Neuropathy, hereditary sensory and autonomic, type III

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

Symbol : HSAN3;

CISMeF acronym : DYS; FD; HSAN3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DYS; Hsan III; FD; Dysautonomia, familial; Riley-day syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the elongator complex protein 1 gene (ELP1, 603722.0001);

Laboratory abnormalities : Azotemia; Increased blood urea nitrogen (BUN); Increased serum creatinine; Absent axonal flare response after intradermal histamine injection; Increased sensitivity to adrenergic and cholinergic agents;

Prefixed ID : #223900;

Details

Origin ID

223900;

UMLS CUI

C0013364;

Automatic exact mappings (from CISMeF team)
- Clinical Study Sponsor Financial Disclosure Form [NCIt concept]
- Dying [ICNP subject]
- ELP1 wt Allele [NCIt concept]
- Fabry disease [ORDO Disease]
- Faraday [NCIt concept]
- Final diagnosis (discharge) (contextual qualifier) (qualifier value) [SNOMED CT concept]
- dengue [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]
Currated CISMeF NLP mapping
- Familial Dysautonomia [NCIt concept]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category (who)]
- Hereditary sensory and autonomic neuropathy type III [ICD-11 Subcategory]
- Riley-Day syndrome [DO Concept]
- Riley-Day syndrome [MedDRA Preferred Term]
- dysautonomia, familial [MeSH Descriptor]
- dysautonomia, familial [MeSH concept]
- familial dysautonomia [Disease (Nov.)]
- familial dysautonomia [Radlex concept]
- familial dysautonomia [SNOMED Notion]
DO Cross reference
- Riley-Day syndrome [DO Concept]
Genes related to phenotype
- Elongator complex protein 1 [OMIM gene]
HPO term(s)
- Abnormal renal physiology [HPO term]
- Abnormality of renal physiology [HPO term]
- Acrocyanosis [HPO term]
- Alacrima [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Constipation [HPO term]
- Corneal ulceration [HPO term]
- Decreased corneal reflex [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Decreased sensitivity to hypoxemia [HPO term]
- Diarrhea [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Emotional lability [HPO term]
- Episodic hyperhidrosis [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Glomerular sclerosis [HPO term]
- Growth delay [HPO term]
- Hypertension [HPO term]
- Hypogeusia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Increased blood urea nitrogen [HPO term]
- Neuropathic arthropathy [HPO term]
- Orthostatic hypotension [HPO term]
- Progressive [HPO term]
- Recurrent corneal erosions [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections due to aspiration [HPO term]
- Scoliosis [HPO term]
- Tachycardia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Familial dysautonomia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Dysautonomia [NCIt concept]
- Familial dysautonomia [ORDO Disease]
- Familial dysautonomia [MedDRA LLT]
- Familial dysautonomia [PASCAL descriptor]
- Familial dysautonomia (disorder) [SNOMED CT concept]
- Familial dysautonomia [Riley-Day] [ICD-10 Sub-category]
- Hereditary sensory and autonomic neuropathy type III [ICD-11 Subcategory]
- Riley-Day syndrome [MedDRA Preferred Term]
- Riley-Day syndrome [DO Concept]
- dysautonomia, familial [MeSH Descriptor]
- dysautonomia, familial [MeSH concept]
- familial dysautonomia [SNOMED Notion]
- familial dysautonomia [Radlex concept]
- familial dysautonomia [Disease (Nov.)]

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