Neuropathy, hereditary sensory and autonomic, type iia

Preferred Label : Neuropathy, hereditary sensory and autonomic, type iia;

Symbol : HSAN2A;

CISMeF acronym : HSAN2A; HSN2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuropathy, congenital sensory; Neuropathy, hereditary sensory, type iia; Acroosteolysis, giaccai type; Hsan iia; Hsn iia; Morvan disease; Neuropathy, hereditary sensory radicular, autosomal recessive; Neuropathy, progressive sensory, of children; HSN2A; Acroosteolysis, neurogenic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HSN2 isoform of the protein kinase, lysine-deficient 1 gene (WNK1, 605232.0003);

Laboratory abnormalities : Decreased axonal flare response after intradermal histamine injection;

Prefixed ID : #201300;

Details

Origin ID

201300;

UMLS CUI

C2752089;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
- Other hereditary and idiopathic neuropathies [ICD-10 Sub-category]
- Syringomyelia (disorder) [SNOMED CT concept]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- morvan disease [MeSH concept]
- neuropathy, hereditary sensory and autonomic, type IIB [MeSH Supplementary Concept]
- sensory neuropathy, hereditary [MeSH concept]
- syringomyelia [MeSH Descriptor]
Broader ORDO disease(s)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy type IIA [ICD-11 More detail]
- Hereditary sensory autonomic neuropathy type IIA (disorder) [SNOMED CT concept]
- hereditary sensory and autonomic neuropathy type 2A [DO Concept]
- neuropathy, hereditary sensory and autonomic, type IIA [MeSH concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 2A [DO Concept]
Genes related to phenotype
- Protein kinase, lysine-deficient 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Acral ulceration [HPO term]
- Anhidrosis [HPO term]
- Areflexia [HPO term]
- Autoamputation of digits [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased corneal reflex [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Episodic hyperhidrosis [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Foot acroosteolysis [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Hypogeusia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Painless fractures due to injury [HPO term]
- Paronychia [HPO term]
- Peripheral neuropathy [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
See also inter- (CISMeF)
- congenital sensory neuropathy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory autonomic neuropathy type IIA (disorder) [SNOMED CT concept]
- hereditary sensory and autonomic neuropathy type 2A [DO Concept]
- neuropathy, hereditary sensory and autonomic, type IIA [MeSH concept]

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