Neuropathy, hereditary sensory, type iic

Preferred Label : Neuropathy, hereditary sensory, type iic;

Symbol : HSN2C;

CISMeF acronym : HSN2C;

Type : Phenotype, molecular basis known;

Description : HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011). For a discussion of genetic heterogeneity of HSN, see HSAN1 (162400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 1A gene (KIF1A, 601255.0002);

Prefixed ID : #614213;

Détails

Origin ID

614213;

UMLS CUI

C3280168;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- hereditary sensory neuropathy type 2C [DO Concept]
DO Cross reference
- hereditary sensory neuropathy type 2C [DO Concept]
Genes related to phenotype
- Kinesin family member 1a [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hereditary sensory neuropathy type 2C [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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