Nescav syndrome

Preferred Label : Nescav syndrome;

Symbol : NESCAVS;

CISMeF acronym : MRD9; NESCAVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment; MRD9; Mental retardation, autosomal dominant 9;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 1A gene (KIF1A, 601255.0004);

Prefixed ID : #614255;

Details

Origin ID

614255;

UMLS CUI

C5393830;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- Mental Retardation, Autosomal Dominant 9 [NCIt concept]
- NESCAV syndrome [DO Concept]
DO Cross reference
- NESCAV syndrome [DO Concept]
Genes related to phenotype
- Kinesin family member 1a [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Talipes equinovarus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, Autosomal Dominant 9 [NCIt concept]
- NESCAV syndrome [DO Concept]

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