Neuropathy, hereditary sensory and autonomic, type V

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

Symbol : HSAN5;

CISMeF acronym : HSAN5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Insensitivity to pain, congenital; Hsan V;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nerve growth factor-beta gene (NGFB, 162030.0001);

Prefixed ID : #608654;

Détails

Origin ID

608654;

UMLS CUI

C0020075;

Automatic exact mappings (from CISMeF team)
- Indifference to Pain, Congenital, Autosomal Recessive [NCIt concept]
- NGF wt Allele [NCIt concept]
- dysautonomia, familial [MeSH Descriptor]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- hereditary sensory and autonomic neuropathy type ie [MeSH concept]
- hereditary sensory and autonomic neuropathy type ie [MeSH Supplementary Concept]
- pain insensitivity, congenital [MeSH Descriptor]
- pain insensitivity, congenital [MeSH concept]
Currated CISMeF NLP mapping
- Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 5 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type V [ICD-11 Subcategory]
- Neuropathy, Hereditary Sensory and Autonomic, Type V [NCIt concept]
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
- hereditary sensory and autonomic neuropathy type V [MeSH concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
False automatic mappings
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy [ORDO Disease]
Genes related to phenotype
- Nerve growth factor [OMIM gene]
HPO term(s)
- Accidental injury and ulceration of the lips and tongue due to decreased sensation [HPO term]
- Acral ulceration [HPO term]
- Anhidrosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Impaired pain sensation [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Osteomyelitis [HPO term]
- Pain insensitivity [HPO term]
- Painless fractures due to injury [HPO term]
- Peripheral neuropathy [HPO term]
- Recurrent fever [HPO term]
- distal ulceration and osteomyelitis leading to autoamputation [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 5 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type V [ICD-11 Subcategory]
- Neuropathy, Hereditary Sensory and Autonomic, Type V [NCIt concept]
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
- hereditary sensory and autonomic neuropathy type V [MeSH concept]

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