CCDC115-CDG

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
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Rx Blood, Metabolism, and Infectious Diseases (A - Z)

CCDC115-CDG is a very rare inherited disorder where the body cannot “decorate” many proteins with sugar chains in the normal way (this process is called glycosylation). These sugar chains help proteins fold well, travel to the right place, and work correctly in many organs. In CCDC115-CDG, changes (variants) in the CCDC115 gene disturb normal work inside the Golgi apparatus (a cell “packing and shipping” area). This can lead to abnormal N-linked and O-linked glycosylation on blood proteins, and it often shows up as early liver disease (like enlarged liver/spleen, high liver enzymes, and sometimes progressive liver failure) plus low muscle tone and developmental delay in some people. Because the liver and copper-related blood tests can look “Wilson-disease-like,” the condition can be confusing at first. ScienceDirect+4Orpha+4Genetic Diseases Info Center+4

CCDC115-CDG is a very rare congenital disorder of glycosylation (CDG). “Congenital” means you are born with it. “Glycosylation” is the body’s way of attaching tiny sugar chains to proteins so those proteins can work correctly. In CCDC115-CDG, this sugar-attachment process is abnormal (mainly in the Golgi cell system), so many organs can be affected—especially the liver and the brain/nerves. PMC+3Genetic Diseases Info Center+3Orpha+3

Most reported people have infant/childhood onset with signs like enlarged liver/spleen, progressive liver disease, low muscle tone (hypotonia), developmental delay, and sometimes seizures. Blood tests may show high liver enzymes, fat/lipid changes, and other metabolic changes. Because it is rare, the exact symptoms and severity can be different from person to person. PubMed+3Genetic Diseases Info Center+3Orpha+3

Other names

You may also see CCDC115-CDG called: congenital disorder of glycosylation, type IIo; CDG2O; carbohydrate-deficient glycoprotein syndrome type IIo; or “CCDC115 deficiency.” Monarch Initiative+2Orpha+2

Types

  • Biochemical type: a combined N- and O-glycosylation defect (a Golgi-type pattern on testing). ScienceDirect+1

  • CDG classification type: a CDG type II (Golgi/processing) disorder, specifically type IIo (CDG2O). Mouse Genome Informatics+1

  • Clinical pattern 1 (liver-predominant): mainly liver disease with abnormal liver enzymes and fatty change/fibrosis in some reports. ScienceDirect+2PubMed+2

  • Clinical pattern 2 (liver + neurodevelopment): liver disease plus hypotonia and developmental delay in some patients. Genetic Diseases Info Center+2Orpha+2

  • Clinical pattern 3 (Wilson-like pattern): liver findings plus low ceruloplasmin and copper-test changes that can mimic Wilson disease. Genetic Diseases Info Center+2ScienceDirect+2

Causes

  1. Biallelic (two-copy) harmful variants in the CCDC115 gene are the direct cause. This means both gene copies do not work well enough, so the disorder is typically autosomal recessive. PMC+2Mouse Genome Informatics+2

  2. Autosomal recessive inheritance is a key reason the condition appears in a child: parents often carry one changed copy each and are usually healthy. Mouse Genome Informatics+1

  3. CCDC115 protein problems can disturb Golgi “homeostasis.” In simple words, the Golgi cannot keep its normal working conditions, so protein processing becomes faulty. PMC+1

  4. Abnormal Golgi trafficking (shipping of proteins) is suggested in research, meaning proteins may not move through Golgi steps in the right order. That can worsen glycosylation quality. PubMed+1

  5. A link to V-ATPase assembly factors is important. CCDC115 is described as related to factors that help build the V-ATPase system, which is connected to organelle function and cell chemistry. UniProt+2Nature+2

  6. Golgi pH and enzyme performance can be affected when Golgi systems are disturbed. Many glycosylation enzymes need the right environment to add sugars correctly. PMC+1

  7. Combined N-linked glycosylation disruption happens, shown by abnormal transferrin patterns in blood testing. This is part of the disease mechanism, not just a lab sign. ScienceDirect+2PMC+2

  8. Combined O-linked glycosylation disruption can also happen, shown by abnormal ApoC-III testing in some patients, pointing to broader Golgi problems. ScienceDirect+2PMC+2

  9. Liver cell injury and progressive liver disease can be part of the pathway, with reports describing severe liver involvement in this CDG subtype. Orpha+2ScienceDirect+2

  10. Fatty liver (steatosis) and fibrosis have been reported in some cases, meaning fat build-up and scarring may develop as part of disease effects on liver biology. ScienceDirect+2Cell+2

  11. Abnormal lipid handling (hyperlipidemia / hypercholesterolemia) is reported in CCDC115-related V-ATPase assembly defects, suggesting liver metabolism is disturbed. Genetic Diseases Info Center+2cmghjournal.org+2

  12. Copper-test abnormalities (Wilson-like) can occur in this condition, likely because liver processing of certain proteins (like ceruloplasmin) and liver function are affected. Genetic Diseases Info Center+2ScienceDirect+2

  13. Low ceruloplasmin is a reported lab feature and can contribute to confusion with Wilson disease; it reflects altered liver protein production/processing. Genetic Diseases Info Center+1

  14. Hepatosplenomegaly (enlarged liver and spleen) is a common early sign in descriptions, showing how strongly liver-spleen systems are involved. Genetic Diseases Info Center+1

  15. Coagulation factor problems (bleeding/clotting imbalance) can happen in CDGs because the liver makes many clotting proteins and these proteins also need correct glycosylation. PMC+1

  16. Neurologic involvement (like low tone, developmental delay, and sometimes seizures) can occur because glycosylation supports brain development and nerve function in many CDG conditions. Genetic Diseases Info Center+2PMC+2

  17. Hypotonia (low muscle tone) can be partly due to brain/nerve involvement and overall multisystem stress seen in CDGs, including this subtype. Genetic Diseases Info Center+1

  18. Seizures in some patients show that the nervous system can be affected; this is reported in case descriptions of CCDC115 deficiency. Genetic Diseases Info Center+2Cell+2

  19. System-wide glycoprotein under-processing can lead to many mild “small signs” (like mild dysmorphic features) because glycosylation touches many tissues. Genetic Diseases Info Center+2PMC+2

  20. Why it is rare: it usually needs two harmful variants plus the right inheritance pattern, so it stays uncommon in the population, and many cases are only found after special glycosylation screening and gene testing. PMC+2ScienceDirect+2

Symptoms

  1. Enlarged liver and spleen (hepatosplenomegaly): the belly may look swollen because the liver and spleen become bigger than normal, often starting in infancy. Genetic Diseases Info Center+1

  2. High liver enzymes on blood tests: ALT/AST and other liver markers can be high because the liver is stressed or inflamed. Genetic Diseases Info Center+1

  3. Progressive liver disease or liver failure: in more severe cases, liver function can worsen over time and may become serious. Orpha+1

  4. Jaundice (yellow skin/eyes): some children can develop yellowing when the liver cannot process bilirubin well. PubMed+1

  5. Poor growth or poor weight gain: chronic liver disease and metabolic stress can make it hard for a child to grow as expected. PMC+1

  6. Low muscle tone (hypotonia): the child may feel “floppy,” sit late, or have weaker posture because muscle tone control is reduced. Genetic Diseases Info Center+1

  7. Global developmental delay: skills like sitting, walking, talking, and learning may develop later than usual. Genetic Diseases Info Center+1

  8. Motor delay (movement delay): gross motor skills such as crawling and walking can be slow, often linked to hypotonia and brain involvement. Genetic Diseases Info Center+1

  9. Speech and language delay: some children may speak late or have fewer words because overall development is affected. Genetic Diseases Info Center+1

  10. Seizures (in some patients): abnormal electrical activity in the brain can cause seizure episodes; not everyone has this, but it is reported. Genetic Diseases Info Center+2Cell+2

  11. Tiredness and low energy: chronic liver problems and metabolic imbalance can cause fatigue and low stamina. ScienceDirect+1

  12. High cholesterol / abnormal fats: blood fats can be higher than normal, which is a common lab-linked feature in reported cases. Genetic Diseases Info Center+2cmghjournal.org+2

  13. Low ceruloplasmin (lab-linked symptom cluster): while it is a lab value, it often comes with a “Wilson-like” story and can be part of the clinical picture doctors notice. Genetic Diseases Info Center+1

  14. Mild facial or body differences (mild dysmorphic features): some patients have small physical differences, which can happen in many CDG conditions. Genetic Diseases Info Center+1

  15. Easy bruising or bleeding tendency (possible): if liver-made clotting proteins are low or abnormal, bruising or bleeding can be easier in some CDG cases. PMC+1

Diagnostic tests

Physical exam (doctor checks with eyes/hands)

  1. General growth check (height, weight, head size): the doctor measures growth and compares it with normal charts to see if growth is delayed. PMC+1

  2. Abdominal exam for enlarged liver/spleen: the doctor gently feels the belly to check if liver or spleen is bigger than normal. Genetic Diseases Info Center+1

  3. Skin and eye exam for jaundice: the doctor looks for yellow color in the eyes and skin, which can suggest liver trouble. PubMed+1

  4. Neurologic exam (tone, reflexes, coordination): the doctor checks muscle tone and basic nerve reflexes to look for hypotonia or other signs. Genetic Diseases Info Center+1

Manual tests (simple bedside tests and scoring tools)

  1. Developmental screening test (age-based milestones): simple tasks and questions help check speech, social skills, fine motor, and gross motor development. Genetic Diseases Info Center+1

  2. Muscle tone assessment (passive movement and posture): the clinician moves arms/legs gently and watches posture to judge “floppiness” and strength control. Genetic Diseases Info Center+1

  3. Feeding and swallowing assessment: history plus bedside observation can show if the child tires during feeding or has signs of swallowing difficulty in chronic illness. PMC+1

Lab and pathological tests (blood/urine and tissue tests)

  1. Liver function tests (ALT, AST, ALP, bilirubin): these blood tests show liver stress, bile flow problems, and how well the liver is working. Genetic Diseases Info Center+1

  2. Serum transferrin glycoform testing (IEF or similar): this is a classic CDG screening test for N-glycosylation problems and can show a Golgi-type pattern. ScienceDirect+2MDPI+2

  3. Apolipoprotein C-III glycoform testing (IEF/2D methods): this helps evaluate O-glycosylation and supports a combined N+O Golgi defect in some patients. ScienceDirect+2ScienceDirect+2

  4. Lipid profile (cholesterol and triglycerides): this checks for hypercholesterolemia or other fat changes reported with CCDC115/V-ATPase assembly defects. Genetic Diseases Info Center+1

  5. Ceruloplasmin level: low ceruloplasmin can appear and may confuse the picture with Wilson disease, so it helps guide further testing. Genetic Diseases Info Center+1

  6. Copper studies (blood and urine copper, as guided by doctor): these help separate true Wilson disease from Wilson-like patterns seen in CCDC115-CDG. MDPI+1

  7. Coagulation tests (PT/INR and clotting factors): the liver makes many clotting proteins, so these tests show if liver-related bleeding risk may exist. PMC+1

  8. Genetic testing (CCDC115 sequencing, often via exome/panels): this is the confirmatory test that finds disease-causing variants in both gene copies. PMC+2ScienceDirect+2

  9. Liver biopsy (only when needed): a small sample of liver tissue can show steatosis, fibrosis, or other changes and can help explain severity. ScienceDirect+2Cell+2

Electrodiagnostic tests (tests of brain/nerve electricity)

  1. EEG (brain wave test): if seizures are suspected, EEG records brain electrical signals to look for seizure patterns. Cell+1

  2. Nerve conduction study (NCS) and/or EMG (as guided): if weakness or nerve concerns appear, these tests can check nerve signal speed and muscle response. Frontiers+1

Imaging tests (pictures of organs)

  1. Abdominal ultrasound: a simple scan can show enlarged liver/spleen, fatty liver signs, and changes in liver texture. ScienceDirect+1

  2. Brain MRI (if developmental delay or seizures): MRI can look for structural brain changes that sometimes appear in broader CDG conditions and helps rule out other causes. PMC+1

Non-pharmacological treatments (therapies and other supports)

  1. Care team + regular monitoring. Description: A coordinated team (metabolic/genetics, liver specialist, neurology, dietitian, rehab) follows growth, liver labs, clotting, development, and infections. Purpose: catch problems early. Mechanism: frequent checks allow quick changes in nutrition/therapy plans. NCBI+1

  2. Individualized nutrition plan (high-calorie when needed). Description: Many CDG children struggle to gain weight. Dietitians may use energy-dense meals or formulas. Purpose: support growth and healing. Mechanism: more calories + balanced protein/fat/carbs reduces “failure to thrive.” NCBI+1

  3. Feeding therapy (speech/OT feeding). Description: Helps chewing, swallowing safety, and texture tolerance. Purpose: safer feeding and better intake. Mechanism: exercises and strategies improve coordination and reduce aspiration risk. NCBI+1

  4. Physical therapy (PT). Description: Builds strength, posture, balance, and walking skills when hypotonia/delay exist. Purpose: improve mobility and prevent contractures. Mechanism: repeated guided movement trains muscles and motor pathways. NCBI+1

  5. Occupational therapy (OT). Description: Supports hand skills, daily activities, and sensory needs. Purpose: better independence. Mechanism: task practice + adaptive tools reduces effort and improves function. NCBI+1

  6. Speech-language therapy (communication). Description: Works on speech, language, and alternative communication (AAC) if needed. Purpose: improve learning and social connection. Mechanism: structured language practice builds communication pathways. NCBI+1

  7. Early intervention + special education plan. Description: School supports tailored to attention, learning, and motor needs. Purpose: maximize development. Mechanism: repeated skills practice and accommodations improve outcomes. NCBI+1

  8. Seizure-safety planning (non-drug). Description: Sleep routine, triggers diary, helmet in high-risk kids, caregiver training. Purpose: fewer injuries and better control. Mechanism: avoiding triggers and fast response reduces seizure harm. NCBI+1

  9. Liver-protective lifestyle. Description: Avoid alcohol (later in life), avoid unnecessary herbal “detox” products, and review all medicines for liver safety. Purpose: protect liver cells. Mechanism: reduces toxic stress on an already vulnerable liver. Genetic Diseases Info Center+1

  10. Low-salt plan if fluid retention/ascites appears. Description: Lower sodium foods and careful fluid guidance when doctors recommend. Purpose: reduce swelling/ascites. Mechanism: less sodium means less water retention in the body. NIDDK+2NIDDK+2

  11. Infection-prevention habits. Description: Hand hygiene, safe food handling, and staying away from sick contacts during outbreaks. Purpose: fewer severe infections. Mechanism: reduces exposure to viruses/bacteria. NCBI+1

  12. Vaccine planning with clinicians. Description: Vaccines are especially important if liver disease or immune issues exist, but schedules may be individualized. Purpose: prevent dangerous infections. Mechanism: trained immune memory lowers risk of severe disease. CDC+1

  13. Safe-food precautions (especially with liver disease). Description: Avoid raw/undercooked seafood/meat and unpasteurized products if advised. Purpose: prevent serious foodborne infections. Mechanism: lowers exposure to pathogens that can hit harder with liver disease. NIDDK

  14. Sleep support. Description: Regular bedtime, screen limits, and treating sleep apnea if present. Purpose: better daytime function and seizure stability. Mechanism: stable sleep supports brain regulation and immune health. NCBI+1

  15. Vision and hearing screening. Description: Regular eye/ear checks and early correction. Purpose: protect learning and communication. Mechanism: fixing sensory input improves brain development and school progress. NCBI+1

  16. Dental care plan. Description: Routine dental visits, fluoride guidance, and feeding-related tooth protection. Purpose: prevent pain/infection. Mechanism: reduces oral bacteria and inflammation that can worsen overall health. NCBI+1

  17. Psychology + family support. Description: Counseling for stress, coping, and behavior challenges. Purpose: protect mental health and caregiver resilience. Mechanism: skills + support reduce burnout and improve adherence. NCBI+1

  18. Genetic counseling for the family. Description: Explains inheritance (often autosomal recessive in many CDGs) and options for future pregnancies. Purpose: informed decisions. Mechanism: risk calculation + testing options reduce uncertainty. NCBI+1

  19. Emergency care plan document. Description: A one-page sheet listing diagnosis, baseline labs, seizure plan, and specialist contacts. Purpose: faster correct treatment in emergencies. Mechanism: reduces delays and mistakes in urgent care. NCBI+1

  20. Regular reassessment of goals. Description: Every few months, the team reviews nutrition, development, liver status, and therapies. Purpose: keep care realistic and effective. Mechanism: plans evolve as the child grows and symptoms change. NCBI+1

Drug treatments

Important: These medicines are used to treat symptoms/complications, not to “cure” CCDC115-CDG. Doses and timing must be decided by a licensed clinician, especially in children and in liver disease. NCBI+1

  1. Levetiracetam (Keppra) — Class: anti-seizure medicine. Dosage/Time: individualized; often given 2 times daily. Purpose: seizure control. Mechanism: exact mechanism is not fully known; it reduces abnormal seizure firing. Side effects: sleepiness, dizziness, mood/behavior changes. FDA Access Data

  2. Clobazam (Onfi) — Class: benzodiazepine anti-seizure. Dosage/Time: individualized; often daily or twice daily. Purpose: add-on seizure control (certain seizure types). Mechanism: enhances GABA calming signals in the brain. Side effects: sleepiness, drooling, constipation, dependence risk. FDA Access Data

  3. Lamotrigine (Lamictal) — Class: anti-seizure. Dosage/Time: slow dose increases are common. Purpose: seizure control and mood stabilization in some patients. Mechanism: blocks sodium channels and reduces excitatory release. Side effects: rash (can be serious), dizziness, nausea. FDA Access Data

  4. Topiramate (Topamax) — Class: anti-seizure. Dosage/Time: individualized; often twice daily. Purpose: seizure control, sometimes migraine prevention. Mechanism: multiple actions (ion channels and inhibitory signaling). Side effects: tingling, weight loss, kidney stones, word-finding difficulty. FDA Access Data

  5. Diazepam nasal spray (Valtoco) for rescue — Class: benzodiazepine. Dosage/Time: used as emergency rescue for seizure clusters, not daily. Purpose: stop prolonged or cluster seizures fast. Mechanism: boosts GABA calming. Side effects: sleepiness, slowed breathing risk (especially with other sedatives). FDA Access Data

  6. Phenobarbital — Class: barbiturate anti-seizure. Dosage/Time: clinician-set; often daily. Purpose: seizure control (often in infants). Mechanism: increases inhibitory brain signaling. Side effects: sleepiness, learning effects, breathing suppression at high levels, drug interactions. FDA Access Data

  7. Ursodiol / ursodeoxycholic acid — Class: bile acid. Dosage/Time: clinician-set; often 2–3 times daily. Purpose: improve bile flow in cholestatic liver disease. Mechanism: changes bile composition and supports bile movement. Side effects: diarrhea, stomach upset. FDA Access Data

  8. Spironolactone — Class: diuretic (aldosterone blocker). Dosage/Time: individualized. Purpose: reduce fluid buildup/ascites. Mechanism: helps the kidney remove salt/water while sparing potassium. Side effects: high potassium, breast tenderness, dizziness. FDA Access Data+1

  9. Furosemide (Lasix) — Class: loop diuretic. Dosage/Time: individualized. Purpose: swelling/ascites control. Mechanism: increases salt/water loss through kidneys. Side effects: dehydration, low potassium, low blood pressure. FDA Access Data+1

  10. Lactulose — Class: osmotic laxative / ammonia-lowering therapy. Dosage/Time: clinician-guided; dose is adjusted to stool pattern. Purpose: constipation relief and treatment/prevention of hepatic encephalopathy in severe liver disease. Mechanism: traps ammonia in the gut and increases bowel removal. Side effects: gas, diarrhea, cramps. FDA Access Data

  11. Rifaximin (Xifaxan) — Class: gut-targeted antibiotic. Dosage/Time: clinician-set. Purpose: reduce hepatic encephalopathy recurrence in advanced liver disease. Mechanism: lowers ammonia-producing gut bacteria. Side effects: nausea, swelling, fatigue; C. difficile risk is possible with antibiotics. FDA Access Data

  12. Phytonadione (Vitamin K1) — Class: vitamin/coagulation support. Dosage/Time: clinician-set (oral or injection). Purpose: treat or prevent vitamin-K deficiency bleeding, especially if cholestasis reduces vitamin absorption. Mechanism: supports clotting factor activation. Side effects: injection reactions; rare allergic reactions. FDA Access Data

  13. Omeprazole — Class: proton-pump inhibitor. Dosage/Time: clinician-set; often once daily. Purpose: reflux/GERD and stomach protection. Mechanism: lowers stomach acid production. Side effects: headache, diarrhea; long-term use may affect magnesium/B12 in some people. FDA Access Data

  14. Ondansetron (Zofran) — Class: anti-nausea (5-HT3 blocker). Dosage/Time: as prescribed. Purpose: control nausea/vomiting to protect hydration and nutrition. Mechanism: blocks serotonin signals that trigger vomiting. Side effects: constipation, headache; QT-prolongation risk in some patients. FDA Access Data

  15. Polyethylene glycol 3350 (PEG 3350) — Class: osmotic laxative. Dosage/Time: clinician-guided; often daily. Purpose: chronic constipation support. Mechanism: holds water in stool to soften it. Side effects: bloating, diarrhea. U.S. Food and Drug Administration

  16. Amoxicillin/clavulanate (Augmentin) — Class: antibiotic. Dosage/Time: depends on infection and age/weight. Purpose: treat bacterial infections (e.g., sinus/ear, some respiratory infections). Mechanism: blocks bacterial cell wall + inhibits beta-lactamase. Side effects: diarrhea, rash; liver warnings exist in some patients. FDA Access Data

  17. Ceftriaxone — Class: cephalosporin antibiotic. Dosage/Time: clinician-set; often injection. Purpose: serious bacterial infections. Mechanism: blocks bacterial cell wall building. Side effects: diarrhea, allergic reactions; special precautions in newborns. FDA Access Data

  18. Azithromycin — Class: macrolide antibiotic. Dosage/Time: clinician-set. Purpose: certain respiratory/ear infections and atypical bacteria. Mechanism: blocks bacterial protein production. Side effects: stomach upset; QT-prolongation risk in some patients. MedlinePlus

  19. Immune globulin (IVIG, e.g., Gamunex-C) — Class: antibody replacement (biologic). Dosage/Time: given by infusion at clinician-planned intervals. Purpose: help prevent infections in antibody deficiency. Mechanism: provides ready-made IgG antibodies for protection. Side effects: headache, infusion reactions; clot risk in high-risk settings. U.S. Food and Drug Administration+1

  20. Trimethoprim-sulfamethoxazole (TMP-SMX) — Class: antibiotic. Dosage/Time: clinician-set; sometimes used for prophylaxis in specific immune conditions. Purpose: prevent/treat certain infections. Mechanism: blocks bacterial folate pathway. Side effects: rash (can be severe), nausea, blood count changes in some people. MedlinePlus

Dietary molecular supplements (supportive; not a cure)

Important: Supplements can still cause harm (especially in liver disease) and can interact with medicines. Use them only if your clinician approves and monitors labs. NCBI+1

  1. Vitamin D — Dosage: clinician-guided (often based on blood level). Function: bone and immune support. Mechanism: acts like a hormone that helps calcium absorption and immune signaling. Office of Dietary Supplements

  2. Calcium — Dosage: based on age and diet. Function: bone strength and muscle function. Mechanism: mineral needed for bone structure and nerve/muscle signaling. Office of Dietary Supplements

  3. Omega-3 fatty acids (EPA/DHA) — Dosage: clinician-guided. Function: supports heart and may help inflammation balance. Mechanism: changes cell-membrane fats and signaling molecules. Office of Dietary Supplements

  4. Vitamin C — Dosage: food-first when possible; supplement only if needed. Function: antioxidant and wound support. Mechanism: helps collagen formation and protects cells from oxidative stress. Office of Dietary Supplements

  5. Zinc — Dosage: clinician-guided (too much can harm). Function: immune function and growth. Mechanism: supports many enzymes and immune cell signaling. Office of Dietary Supplements

  6. Selenium — Dosage: clinician-guided. Function: antioxidant support. Mechanism: part of selenoproteins that reduce oxidative damage. Office of Dietary Supplements

  7. Magnesium — Dosage: clinician-guided. Function: muscle/nerve support and energy pathways. Mechanism: cofactor for many enzymes and helps electrical stability in cells. Office of Dietary Supplements

  8. Folate (Vitamin B9) — Dosage: clinician-guided. Function: red blood cell and DNA support. Mechanism: required for DNA synthesis and methylation pathways. Office of Dietary Supplements

  9. Vitamin B12 — Dosage: clinician-guided (oral or injection depending on cause). Function: nerve and blood support. Mechanism: cofactor for myelin and red blood cell production. Office of Dietary Supplements

  10. Vitamin K (as a nutrient) — Dosage: usually food-based unless malabsorption/cholestasis; medical dosing is prescription-guided. Function: clotting support. Mechanism: required for activation of clotting proteins. FDA Access Data+1

Medicines linked to immunity support / regenerative support / stem-cell

Reality check: There are no proven “stem-cell drugs” that fix CCDC115-CDG. The options below are supportive tools used in other conditions when a specialist decides they are needed for immune problems or low blood counts. NCBI+1

  1. Filgrastim (Neupogen) — Dosage/Time: clinician-set injections. Function: raises neutrophils in some neutropenia states. Mechanism: is a G-CSF growth factor that stimulates neutrophil production. Risks: bone pain, spleen effects, rare serious reactions. FDA Access Data+1

  2. Sargramostim (Leukine) — Dosage/Time: clinician-set injections. Function: supports white blood cell recovery in specific settings. Mechanism: GM-CSF that stimulates certain bone-marrow cells. Risks: fever, fluid retention, lung reactions in some people. FDA Access Data+1

  3. Epoetin alfa (Epogen/Procrit) — Dosage/Time: clinician-set injections. Function: supports red blood cell production in specific anemia settings. Mechanism: ESA that signals bone marrow to make RBCs. Risks: clot/stroke risk at higher hemoglobin targets. FDA Access Data+1

  4. Romiplostim (Nplate) — Dosage/Time: clinician-set injections. Function: boosts platelet production in certain thrombocytopenia disorders. Mechanism: TPO-receptor agonist. Risks: clot risk, rebound low platelets after stopping, marrow changes. FDA Access Data+1

  5. Eltrombopag (Promacta) — Dosage/Time: clinician-set oral medicine. Function: platelet support in certain conditions. Mechanism: oral TPO-receptor agonist. Risks: important liver warnings and clot risk; needs careful monitoring. FDA Access Data+1

  6. Plerixafor (Mozobil) — Dosage/Time: specialist-only injections (for stem-cell mobilization in cancer care). Function: mobilizes stem cells into blood for collection. Mechanism: CXCR4 antagonist that releases stem cells from bone marrow niche. Risks: GI upset, dizziness, rare allergic reactions. FDA Access Data+1

Surgeries / procedures (what, and why)

  1. Gastrostomy tube (G-tube) placement. Procedure: feeding tube into the stomach. Why done: when safe oral intake is not enough, or aspiration risk is high. It helps reliable nutrition, hydration, and medicines. NCBI+1

  2. Liver transplant (in end-stage liver failure). Procedure: replace damaged liver with donor liver. Why done: when liver failure becomes life-threatening or complications cannot be controlled. Genetic Diseases Info Center+1

  3. Tympanostomy tubes (ear tubes). Procedure: tiny tubes placed in eardrums. Why done: repeated ear infections or fluid causing hearing loss; better hearing supports speech and learning. Office of Dietary Supplements+1

  4. Central venous access (port/central line) when needed. Procedure: long-term IV access device. Why done: frequent blood draws, IV medicines, or IVIG infusions when veins are hard to access (decision is individualized). Immune Deficiency Foundation+1

  5. Laparoscopic/anti-reflux procedure (selected cases). Procedure: e.g., fundoplication (varies). Why done: severe reflux with poor growth, aspiration, or feeding failure when medical therapy is not enough. MedlinePlus+1

Prevention tips

  1. Keep a vaccine plan with your clinician (especially with liver disease or immune issues). CDC+1

  2. Hand hygiene + sick-contact avoidance during outbreaks at school/home. NIDDK+1

  3. Food safety (avoid raw/undercooked seafood/meat and unpasteurized foods if advised). NIDDK

  4. Medication review for liver safety before starting anything new (including herbs). NIDDK+1

  5. Low-salt strategy if swelling/ascites (only when the liver team recommends it). NIDDK+1

  6. Hydration plan during vomiting/diarrhea to prevent dehydration and metabolic stress. NCBI+1

  7. Seizure safety plan at home and school (supervision during bathing/swimming). NCBI+1

  8. Regular hearing/vision checks so learning problems are not missed. NCBI+1

  9. Early nutrition intervention at the first sign of poor weight gain. NCBI+1

  10. Genetic counseling for family planning and risk understanding. NCBI+1

When to see a doctor (urgent red flags)

Go to urgent care/ER now for breathing trouble, blue lips, severe sleepiness/confusion, uncontrolled vomiting, signs of dehydration (very low urine), a seizure that won’t stop, repeated seizures close together, vomiting blood/black stools, severe belly swelling with fever, or yellowing that rapidly worsens. These can be emergency signs in seizure disorders or serious liver complications. Genetic Diseases Info Center+2NIDDK+2

See your specialist soon (days–weeks) for poor feeding/weight loss, new bruising/bleeding, increasing fatigue, worsening jaundice, repeated infections, developmental regression, or new behavior changes (especially if on anti-seizure medicines). NCBI+1

What to eat and what to avoid

  1. Eat: balanced meals with enough calories (dietitian guided). Avoid: “crash diets.” NCBI+1

  2. Eat: fruits/vegetables and safe proteins. Avoid: raw/undercooked seafood/meat if liver disease risk is present. NIDDK+1

  3. Eat: low-salt foods if swelling/ascites. Avoid: processed salty foods (chips, instant noodles, cured meats). NIDDK+1

  4. Eat: adequate protein if your liver team agrees. Avoid: self-restricting protein without medical advice. EASL-The Home of Hepatology.+1

  5. Eat: safe dairy (pasteurized) or alternatives. Avoid: unpasteurized milk/cheese (infection risk). NIDDK

  6. Eat: iron/folate/B12 foods if anemia risk. Avoid: random high-dose supplements without labs. Office of Dietary Supplements+1

  7. Eat: fluids as advised; track hydration in illness. Avoid: dehydration (especially during fever/diarrhea). NCBI+1

  8. Eat: small frequent meals if nausea/reflux. Avoid: large late meals and trigger foods if GERD worsens. MedlinePlus+1

  9. Eat: vitamin-K foods if allowed (leafy greens). Avoid: changing vitamin-K intake suddenly if on clotting-related treatment—ask your doctor. FDA Access Data+1

  10. Avoid: alcohol (later in life) because it can worsen liver damage; this is a key liver-protection rule. NIDDK+1

FAQs

  1. Is CCDC115-CDG curable? There is no single cure right now; care focuses on managing symptoms and preventing complications. NCBI+1

  2. Is it genetic? Yes, it is linked to changes affecting the CCDC115 pathway; CDGs are commonly inherited, often autosomal recessive. NCBI+1

  3. Why does the liver get sick? CCDC115 problems disturb Golgi function and protein glycosylation, which can strongly affect liver cell processing and bile handling. PMC+2MDPI+2

  4. Do all patients have seizures? No. Seizures are reported in some, but not everyone. Genetic Diseases Info Center+1

  5. What tests confirm the diagnosis? Doctors often use glycosylation studies plus genetic testing; the exact pathway depends on the clinic. NCBI+1

  6. Can diet alone fix it? Diet helps growth and liver support, but it does not correct the gene-based cause. NCBI+1

  7. Are supplements always safe? No—especially with liver disease. Use only with clinician approval and lab monitoring. MedlinePlus+1

  8. Why are infections a concern? Some CDG patients have immune system findings; your doctor decides if immune testing or antibody therapy is needed. NCBI+1

  9. Does IVIG “boost immunity”? IVIG provides antibodies for people who cannot make enough effective antibodies; it is not a general wellness booster. Immune Deficiency Foundation+1

  10. Can liver transplant be needed? In severe progressive liver failure, transplant may be considered by a specialist team. Genetic Diseases Info Center+1

  11. What medicines should be used carefully? Any medicine can matter in liver disease; clinicians review liver safety and interactions (especially anti-seizure drugs). NIDDK+1

  12. Why is low salt sometimes recommended? In cirrhosis/ascites, sodium can worsen fluid retention, so teams may advise restriction. NIDDK+1

  13. Will development improve with therapy? Many children improve skills with early PT/OT/speech, even if challenges remain. NCBI+1

  14. Is every case the same severity? No. Because very few cases are reported, the range of severity is still being defined. NCBI+2Genetic Diseases Info Center+2

  15. What’s the best next step after diagnosis? Build a care team, start nutrition and developmental supports early, and set a monitoring plan for liver, seizures, and infections. NCBI+1

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: December 15, 2025.

PDF Documents For This Disease Condition

  1. Rare Diseases and Medical Genetics.[rxharun.com]
  2. i2023_IFPMA_Rare_Diseases_Brochure_28Feb2017_FINAL.[rxharun.com]
  3. the-UK-rare-diseases-framework.[rxharun.com]
  4. National-Recommendations-for-Rare-Disease-Health-Care-Summary.[rxharun.com]
  5. History of rare diseases and their genetic.[rxharun.com]
  6. health-care-and-rare-disorders.[rxharun.com]
  7. Rare Disease Registries.[rxharun.com]
  8. autoimmune-Rare-Genetic-Diseases.[rxharun.com]
  9. Rare Genetic Diseases.[rxharun.com]
  10. rare-disease-day.[rxharun.com]
  11. Rare_Disease_Drugs_e.[rxharun.com]
  12. fda-CDER-Rare-Diseases-Public-Workshop-Master.[rxharun.com]
  13. rare-and-inherited-disease-eligibility-criteria.[rxharun.com]
  14. FDA-rare-disease-list.pdf-rxharun.com1 Human-Gene-Therapy-for-Rare Diseases_Jan_2020fda.[rxharun.com]
  15. FDA-rare-disease-lists.[rxharun.com]
  16. 30212783fnl_Rare Disease.[rxharun.com]
  17. FDA-rare-disease-list.[rxharun.com]
  18. List of rare disease.[rxharun.com]
  19. Genome Res.-2025-Steyaert-755-68.[rxharun.com]
  20. uk-practice-guidelines-for-variant-classification-v4-01-2020.[rxharun.com]
  21. PIIS2949774424010355.[rxharun.com]
  22. hidden-costs-2016.[rxharun.com]
  23. B156_CONF2-en.[rxharun.com]
  24. IRDiRC_State-of-Play-2018_Final.[rxharun.com]
  25. IRDR_2022Vol11No3_pp96_160.[rxharun.com]
  26. from-orphan-to-opportunity-mastering-rare-disease-launch-excellence.[rxharun.com]
  27. Rare disease fda.[rxharun.com]
  28. England-Rare-Diseases-Action-Plan-2022.[rxharun.com]
  29. SCRDAC 2024 Report.[rxharun.com]
  30. CORD-Rare-Disease-Survey_Full-Report_Feb-2870-2.[rxharun.com]
  31. Stats-behind-the-stories-Genetic-Alliance-UK-2024.[rxharun.com]
  32. rare-and-inherited-disease-eligibility-criteria-v2.[rxharun.com]
  33. ENG_White paper_A4_Digital_FINAL.[rxharun.com]
  34. UK_Strategy_for_Rare_Diseases.[rxharun.com]
  35. MalaysiaRareDiseaseList.[rxharun.com]
  36. EURORDISCARE_FULLBOOKr.[rxharun.com]
  37. EMHJ_1999_5_6_1104_1113.[rxharun.com]
  38. national-genomic-test-directory-rare-and-inherited-disease-eligibilitycriteria-.[rxharun.com]
  39. be-counted-052722-WEB.[rxharun.com]
  40. RDI-Resource-Map-AMR_MARCH-2024.[rxharun.com]
  41. genomic-analysis-of-rare-disease-brochure.[rxharun.com]
  42. List-of-rare-diseases.[rxharun.com]
  43. RDI-Resource-Map-AFROEMRO_APRIL[rxharun.com]
  44. rdnumbers.[rxharun.com] .
  45. Rare disease atoz .[rxharun.com]
  46. EmanPublisher_12_5830biosciences-.[rxharun.com]

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  72. https://beta.rarediseases.info.nih.gov/diseases
  73. https://orwh.od.nih.gov/

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