Details of Disease

General Information of Disease (ID: DISISIYH)

Disease Name Human HOXA1 syndromes
Synonyms
BSAS; Bosley Salih Alorainy syndrome; Athabaskan brainstem dysgenesis; Human HOXA1 syndromes; Bosley-Salih-Alorainy syndrome; ABDS; ABSD; Athabaskan brainstem dysgenesis syndrome; Navajo brainstem syndrome; Athabascan brainstem dysgenesis syndrome
Definition
Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DISISIYH: Human HOXA1 syndromes
Disease Identifiers
MONDO ID
MONDO_0011099
MESH ID
C535397
UMLS CUI
C1832215
OMIM ID
601536
MedGen ID
330410
Orphanet ID
69739
SNOMED CT ID
720518006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HOXA1 OTMSOJ7D Definitive Autosomal recessive [1]
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References

1 The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262.