Hepatic carnitine palmitoyl transferase 1 deficiency, often shortened to CPT1A deficiency, is a rare, inherited energy-use problem in the liver. Our bodies ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Disorder of the Carnitine Cycle and Carnitine Transport Caused by CPT1A Mutation is a rare, inherited metabolic disease. The CPT1A enzyme sits on the outer ...
SDHC-Related Paraganglioma and Gastric Stromal Sarcoma (Gastric GIST) are rare growths that arise from nerve-related cells called paraganglia. These cells sit ...
SDHB-related paraganglioma and gastric stromal sarcoma are rare tumors that grow from special nerve-related cells (paraganglia) outside the adrenal glands. ...
Paraganglioma and gastric stromal sarcoma syndrome—better known medically as the Carney–Stratakis syndrome (CSS)—is a rare, inherited condition where a person ...
Carney–Stratakis dyad is a rare, inherited condition in which a person can develop two types of tumors: (1) gastrointestinal stromal tumors (GIST), usually in ...
Carney-Stratakis syndrome (also called the Carney-Stratakis dyad) is a hereditary condition in which a person can develop both gastrointestinal stromal tumors ...
Carney triad (CT) is a rare condition in which a person develops a combination of three tumors over time: (1) gastrointestinal stromal tumors (GISTs)—usually ...
Carney complex–trismus–pseudocamptodactyly syndrome is a very rare, inherited “heart–hand” disorder. It blends two things: (1) the classic features of Carney ...
“Myxoma–spotty pigmentation–endocrine overactivity syndrome” is the original descriptive name for Carney complex (CNC). It is a rare, inherited condition in ...
LAMB (lentigines, atrial myxoma, blue nevi) syndrome is LAMB stands for lentigines (multiple small dark skin spots), atrial myxoma (a benign heart tumor), and ...
Carney complex (CNC) is a rare, inherited condition in which people develop small dark skin spots, tumors made of myxoid (gel-like) tissue, and several types ...
Mitral regurgitation-hearing loss-skeletal anomalies syndrome is best known as Cardiospondylocarpofacial (CSCF) syndrome and has been reported under the ...
Mitral regurgitation with deafness and skeletal anomalies syndrome is a very rare genetic condition. It affects the heart valves (especially the mitral valve), ...
Forney-Robinson-Pascoe syndrome is a very rare genetic condition. It mainly affects the heart, the bones and joints (especially in the neck, hands, and feet), ...
Forney syndrome—better known to geneticists as Cardiospondylocarpofacial (CSCF) syndrome is an extremely rare, inherited condition that affects the heart, ...
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