Heredopathia Ophthalmootoencephalica
Heredopathia ophthalmo-oto-encephalica is a very rare inherited brain and nerve disease. It is caused by a change (mutation) in a gene called ITM2B/BRI2. This change makes an abnormal protein ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Heredopathia Ophthalmo-Oto-Encephalica
Heredopathia ophthalmo-oto-encephalica is a rare inherited brain-and-body disease. It runs in families in an autosomal dominant way. A small change (duplication) near the end of the ITM2B/BRI2 gene ...
ADan amyloidosis (Familial Danish Dementia, ITM2B/BRI2 Amyloidosis)
ADan amyloidosis is a very rare, inherited brain disease. It happens when a small protein fragment called “ADan” builds up as amyloid in the walls of brain blood vessels and in nearby brain tissue. ...
Congenital Scalp Defects With Distal Limb Reduction Anomalies
Congenital scalp defects with distal limb reduction anomalies is a rare birth condition where a baby is born with a missing patch of skin on the scalp (often called aplasia cutis congenita) and with ...
Congenital Scalp Defects With Distal Limb Anomalies
Congenital scalp defects with distal limb anomalies” is the descriptive name most doctors use for Adams–Oliver syndrome (AOS). Babies are born with areas of missing skin on the scalp (called aplasia ...
Congenital Absence/Hypoplasia of Fingers (Excluding the Thumb)
Congenital absence or hypoplasia of the fingers means one or more fingers (index, middle, ring, little) are missing, very short, or under-developed at birth, while the thumb is present. The change ...
Unilateral Adactylia of the Hand
Unilateral adactylia of the hand means a person is born with no fingers on one hand, while the other hand is normal. “Uni-” means one side. “A-dactylia” means “without digits.” This is a congenital ...
Unilateral Adactylia
Unilateral adactylia means a baby is born without one or more fingers or toes on one side of the body. It is a congenital limb difference. “Unilateral” means it affects only one hand or one foot. ...
Acyl-CoA Dehydrogenase 9 (ACAD9) Deficiency
ACAD9 deficiency is a rare genetic disease. It affects tiny parts of the cell called mitochondria. Mitochondria make energy. ACAD9 is a protein that helps build “complex I,” which is the first step ...
Isolated Acute Necrotizing Encephalopathy (ANE)
Acute necrotizing encephalopathy (ANE) is a sudden, very serious brain illness that usually appears a few days after a fever or a common viral infection (often influenza). “Isolated” ANE means the ...
Acute Necrotizing Encephalopathy of Childhood (ANEC)
Acute necrotizing encephalopathy of childhood (ANEC) is a rare, rapidly progressive brain disorder that usually begins a few days after a high fever from a viral illness. In a short time—often within ...
Acute Necrotizing Encephalitis (ANE/ANEC)
Acute necrotizing encephalitis is a sudden and severe brain illness that usually follows a fever or a viral infection. The immune system reacts in an extreme way and releases many inflammatory ...
Pyrroloporphyria
Pyrroloporphyria is an older name for Acute Intermittent Porphyria (AIP), one of the acute hepatic porphyrias. In AIP, the liver cannot make heme (a part of hemoglobin) normally because an enzyme ...
Acute Intermittent Porphyria (AIP)
Acute intermittent porphyria is often called AIP. Doctors may also write acute hepatic porphyria (AHP) — AIP subtype. Older names include Swedish porphyria (because it was first described in Sweden) ...
Acute Liver Failure and Neurodegeneration Syndrome
Neurodegeneration” means slow damage and loss of nerve cells in the brain or spinal cord. Over time, this causes problems with memory, thinking, movement, behavior, speech, swallowing, sleep, and ...
Autosomal Recessive Spinocerebellar Ataxia-21 With Hepatopathy
Autosomal recessive spinocerebellar ataxia-21 with hepatopathy (often abbreviated SCAR21) is a very rare genetic disorder caused by harmful changes (mutations) in both copies of a gene called SCYL1. ...
Autosomal Recessive Spinocerebellar Ataxia 21 with Hepatopathy
Autosomal recessive spinocerebellar ataxia 21 with hepatopathy is a very rare inherited disorder caused by harmful changes in the SCYL1 gene. “Autosomal recessive” means a child is affected only when ...
Acute Infantile Liver Failure Cerebellar Ataxia Peripheral Sensory Motor Neuropathy Syndrome
This is a very rare, inherited (autosomal recessive) disorder caused by harmful changes in a gene called SCYL1. Children with this condition can have repeated episodes of acute liver failure (often ...
Infantile Liver Failure
Infantile liver failure means a baby’s liver suddenly stops working well. The liver cleans the blood, makes bile, controls sugar and clotting, and helps fight infection. When it fails, these jobs ...
Transient Infantile Liver Failure
Transient infantile liver failure is a rare condition in which a young baby’s liver suddenly stops working well, but then improves over time with the right care. “Transient” means short-term or ...
