Spastic paraplegia 79b, autosomal recessive

Preferred Label : Spastic paraplegia 79b, autosomal recessive;

Symbol : SPG79B;

CISMeF acronym : NDGOA; SPG79;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodegeneration with optic atrophy, childhood-onset; NDGOA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1, 191342.0003);

Prefixed ID : #615491;

Details

Origin ID

615491;

UMLS CUI

C3809665;

Automatic exact mappings (from CISMeF team)
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [ORDO Disease]
Genes related to phenotype
- Ubiquitin carboxyl-terminal esterase l1 [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Dysmetria [HPO term]
- Fasciculations [HPO term]
- Flexion contracture [HPO term]
- Head titubation [HPO term]
- Hyperreflexia [HPO term]
- Intention tremor [HPO term]
- Myokymia [HPO term]
- Myopia [HPO term]
- Myotonia [HPO term]
- Neurodegeneration [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Progressive [HPO term]
- Progressive visual loss [HPO term]
- Sensorimotor neuropathy [HPO term]
- Spastic paraplegia [HPO term]
- Tetraparesis [HPO term]
- Visual loss [HPO term]
Not associated HPO term(s)
- Abnormal electroretinogram [HPO term]
ORDO concept(s)
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients