Spinocerebellar ataxia, autosomal recessive 21

Preferred Label : Spinocerebellar ataxia, autosomal recessive 21;

Symbol : SCAR21;

CISMeF acronym : SCAR21;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia, autosomal recessive 21, with hepatopathy; CALFAN; Cholestasis, low ggt, acute liver failure, and neurodegeneration syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SCY1-like 1 gene (SCYL1, 607982.0001);

Laboratory abnormalities : Liver enzymes tend to normalize after acute episode; Lesser elevation of GGT; Elevated liver enzymes during acute episodes;

Prefixed ID : #616719;

Details

Origin ID

616719;

UMLS CUI

C5569084;

CISMeF manual mappings
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ORDO Disease]
- autosomal recessive spinocerebellar ataxia 21 [DO Concept]
Currated CISMeF NLP mapping
- Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 21 [DO Concept]
Genes related to phenotype
- Scy1-like 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Distal sensory impairment [HPO term]
- Frequent falls [HPO term]
- Gait ataxia [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability, mild [HPO term]
- Motor delay [HPO term]
- Sensorimotor neuropathy [HPO term]
- Spasticity [HPO term]
- Splenomegaly [HPO term]
- Talipes equinovarus [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) [SNOMED CT concept]
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ORDO Disease]
- autosomal recessive spinocerebellar ataxia 21 [DO Concept]

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