Details of Disease

General Information of Disease (ID: DISPHHJJ)

Disease Name Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Synonyms Bosma-Henkin-Christiansen syndrome; Bosma arhinia-microphthalmia syndrome
Definition This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
Disease Hierarchy
DIS7HTFU: Arhinia, choanal atresia, and microphthalmia
DISEV092: Congenital hypogonadotropic hypogonadism
DISPHHJJ: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Disease Identifiers
MONDO ID
MONDO_0016393
UMLS CUI
C4510568
MedGen ID
1372325
Orphanet ID
2250
SNOMED CT ID
724281002

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
SMCHD1 OTBV52DR Supportive Autosomal dominant [1]
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References

1 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.