Riley-Day syndrome Disease Ontology Browser

Disease Ontology Browser

Riley-Day syndrome (DOID:11589)
Alliance: disease page
Synonyms: familial autonomic nervous dysfunction; familial dysautonomia; HSAN III
Alt IDs: OMIM:223900, ICD10CM:G90.1, MESH:D004402, NCI:C84706, UMLS_CUI:C0013364
Definition: A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31.

Disease References using Mouse Models (8)

Allelic Composition	Genetic Background	Reference	Phenotypes
Elp1tm1.2Id/Elp1tm1.2Id	involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA	J:188923	View
Elp1tm1.1Id/Elp1tm1.2Id Tg(IKBKAP*)#Sasl/0	involves: 129S1/Sv * C57BL/6N	J:229459	View
Elp1tm1.1Id/Elp1tm1.2Id	involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA	J:188923	View
Elp1tm1.1Gilas/Elp1tm1.1Gilas Tg(Dct-cre)1Apdn/0	involves: 129S7/SvEvBrd * C57BL/6J	J:237480	View
Elp1tm1c(KOMP)Wtsi/Elp1tm1c(KOMP)Wtsi H2az2Tg(Wnt1-cre)11Rth/H2az2+	involves: C57BL/6J * C57BL/6N * CBA/J	J:202989	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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