Spasticity, childhood-onset, with hyperglycinemia

Preferred Label : Spasticity, childhood-onset, with hyperglycinemia;

Symbol : SPAHGC;

CISMeF acronym : SPAHGC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutaredoxin 5 gene (GLRX5, 609588.0004);

Laboratory abnormalities : Mildly increased CSF glycine (in some patients); Normal serum lactate; Deficient glycine cleavage enzyme activity; Decreased activity of the pyruvate dehydrogenase complex (PDH); Increased serum glycine;

Prefixed ID : #616859;

Details

Origin ID

616859;

UMLS CUI

C4225178;

Currated CISMeF NLP mapping
- Childhood-onset spasticity with hyperglycinemia [ORDO Disease]
- Childhood-onset spasticity with hyperglycinemia (disorder) [SNOMED CT concept]
Genes related to phenotype
- Glutaredoxin 5 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Dysarthria [HPO term]
- Gait disturbance [HPO term]
- Hyperglycinemia [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Leukodystrophy [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Seizure [HPO term]
- Spastic ataxia [HPO term]
- Spastic diplegia [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
Not associated HPO term(s)
- Increased serum lactate [HPO term]
ORDO concept(s)
- Childhood-onset spasticity with hyperglycinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Childhood-onset spasticity with hyperglycinemia [ORDO Disease]
- Childhood-onset spasticity with hyperglycinemia (disorder) [SNOMED CT concept]

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