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Riley-Day Syndrome (MONDO:0009131)

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0009131

Internal:10375

Synonyms

Dysautonomia, Familial

HSAN 3

HSAN III

HSAN3

HSN 3

Riley Day syndrome

Riley-Day syndrome

familial dysautonomia

hereditary sensory and autonomic neuropathy 3

hereditary sensory and autonomic neuropathy type 3

hereditary sensory and autonomic neuropathy type III

hereditary sensory neuropathy type 3

neuropathy, hereditary sensory and autonomic, type 3

neuropathy, hereditary sensory and autonomic, type III

dysautonomia, familial

familial autonomic nervous dysfunction

Mapped terms

DOID:11589

GARD:0007581

ICD10CM:G90.1

MEDGEN:41678

MESH:D004402

MedDRA:10039179

NCIT:C84706

NORD:1069

OMIM:223900

Orphanet:1764

SCTID:29159009

UMLS:C0013364

icd11.foundation:831377479

Child terms

Unknown children.

Results

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