Details of Disease | DrugMAP

General Information of Disease (ID: DISOZ09B)

Disease Name	Bifid nose
Definition	Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.
Disease Hierarchy	DISXTTL9: Facial cleft DISUFSPX: Otorhinolaryngologic disease DISOZ09B: Bifid nose
Disease Identifiers	MONDO ID MONDO_0000110 MESH ID C535441 UMLS CUI C0221363 MedGen ID 66379 HPO ID HP:0011803 Orphanet ID 2695 SNOMED CT ID 787413007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FREM1	OTMHRV87	Limited	Genetic Variation	[1]
ALX3	OTXZ25PZ	Strong	Genetic Variation	[2]
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References

1	Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8.
2	Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.Am J Med Genet A. 2014 Feb;164A(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13.