Insensitivity to pain, congenital, with anhidrosis

Preferred Label : Insensitivity to pain, congenital, with anhidrosis;

Symbol : CIPA;

CISMeF acronym : CIPA; HSAN4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HSAN4; Hsan iv; Familial dysautonomia, type II; Neuropathy, congenital sensory, with anhidrosis; Hereditary sensory and autonomic neuropathy iv;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neurotrophic tyrosine kinase receptor, type 1, gene (NTRK1, 191315.0001);

Laboratory abnormalities : Absent axonal flare response to intradermal histamine injection;

Prefixed ID : #256800;

Details

Origin ID

256800;

UMLS CUI

C0020074;

Automatic exact mappings (from CISMeF team)
- 3-(2-carboxyindol-3-yl)propionic acid [MeSH concept]
- 3-(2-carboxyindol-3-yl)propionic acid [MeSH Supplementary Concept]
- animal care committees [MeSH Descriptor]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- hereditary sensory neuropathy [DO Concept]
Currated CISMeF NLP mapping
- HSAN type IV [MeSH concept]
- Hereditary insensitivity to pain with anhidrosis (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 4 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type IV [ICD-11 Subcategory]
- Neuropathy, Hereditary Sensory and Autonomic, Type IV [NCIt concept]
- congenital insensitivity to pain with anhidrosis [Disease (Nov.)]
- hereditary sensory neuropathy type 4 [DO Concept]
- recessive hereditary sensory neuropathy, type iv [SNOMED Notion]
DO Cross reference
- hereditary sensory neuropathy type 4 [DO Concept]
Genes related to phenotype
- Neurotrophic tyrosine kinase, receptor, type 1 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormality of the immune system [HPO term]
- Accidental injury and ulceration of the lips and tongue due to decreased sensation [HPO term]
- Acral ulceration [HPO term]
- Anhidrosis [HPO term]
- Autoamputation of digits [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal opacity [HPO term]
- Corneal scarring [HPO term]
- Corneal ulceration [HPO term]
- Decreased number of small peripheral myelinated nerve fibers [HPO term]
- Emotional lability [HPO term]
- Fever, episodic, severe [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypotrichosis of the scalp [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Lichenification [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Neuropathic arthropathy [HPO term]
- Opacification of the corneal stroma [HPO term]
- Osteomyelitis [HPO term]
- Pain insensitivity [HPO term]
- Poor wound healing [HPO term]
- Postural hypotension with compensatory tachycardia [HPO term]
- Recurrent corneal erosions [HPO term]
- Recurrent fever [HPO term]
- Self-mutilation [HPO term]
- Sparse scalp hair [HPO term]
- distal ulceration and osteomyelitis leading to autoamputation [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HSAN type IV [MeSH concept]
- Hereditary insensitivity to pain with anhidrosis (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 4 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type IV [ICD-11 Subcategory]
- Neuropathy, Hereditary Sensory and Autonomic, Type IV [NCIt concept]
- congenital insensitivity to pain with anhidrosis [Disease (Nov.)]
- hereditary sensory neuropathy type 4 [DO Concept]
- recessive hereditary sensory neuropathy, type iv [SNOMED Notion]

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