Molybdenum Cofactor deficiency, type C

Preferred Label : Molybdenum Cofactor deficiency, type C;

Symbol : MOCODC;

CISMeF acronym : MOCODC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Molybdenum Cofactor deficiency, Complementation group C;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gephyrin gene (GPHN, 603930.0001);

Laboratory abnormalities : Decreased xanthine dehydrogenase activity; Hypouricemia; Molybdenum cofactor deficiency; Increased urinary taurine; Decreased aldehyde oxidase activity; Sulfite oxidase deficiency; Increased urinary S-sulfocysteine;

Prefixed ID : #615501;

Détails

Origin ID

615501;

UMLS CUI

C1854990;

Currated CISMeF NLP mapping
- Molybdenum cofactor deficiency complementation group C (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, complementation group C [ICD-11 More detail]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [ORDO Disease]
- molybdenum cofactor deficiency type C [DO Concept]
- molybdenum cofactor deficiency, complementation group C [MeSH concept]
- molybdenum cofactor deficiency, complementation group C [MeSH Supplementary Concept]
DO Cross reference
- molybdenum cofactor deficiency type C [DO Concept]
Genes related to phenotype
- Gephyrin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar hypoplasia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized-onset seizure [HPO term]
- Hyperreflexia [HPO term]
- Hypertaurinemia [HPO term]
- Hypertonia [HPO term]
- Hypocystinemia [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypouricemia [HPO term]
- Increased urinary taurine [HPO term]
- Limb hypertonia [HPO term]
- Molybdenum cofactor deficiency [HPO term]
- Neonatal death [HPO term]
- Neonatal onset [HPO term]
- Polymicrogyria [HPO term]
- Poor eye contact [HPO term]
- Poor head control [HPO term]
- Severe global developmental delay [HPO term]
- Sulfite oxidase deficiency [HPO term]
ORDO concept(s)
- Encephalopathy due to sulfite oxidase deficiency [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Molybdenum cofactor deficiency complementation group C (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, complementation group C [ICD-11 More detail]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [ORDO Disease]
- molybdenum cofactor deficiency type C [DO Concept]
- molybdenum cofactor deficiency, complementation group C [MeSH concept]
- molybdenum cofactor deficiency, complementation group C [MeSH Supplementary Concept]

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