Details of Disease | DrugMAP

General Information of Disease (ID: DISAPJ2C)

Disease Name	Facial paresis, hereditary congenital, 3
Synonyms	HCFP3; HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome; facial paresis, hereditary congenital, type 3; congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1; facial paresis, hereditary congenital, 3
Definition	Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.
Disease Hierarchy	DISYKSRF: Genetic disease DIS9VUXS: Congenital hereditary facial paralysis-variable hearing loss syndrome DISAPJ2C: Facial paresis, hereditary congenital, 3
Disease Identifiers	MONDO ID MONDO_0013880 UMLS CUI C3553625 OMIM ID 614744 MedGen ID 766539

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
HOXB1	OTGC0EKI	Strong	Autosomal recessive	[1]
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References

1	HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Hum Genet. 2012 Jul 13;91(1):171-9. doi: 10.1016/j.ajhg.2012.05.018. Epub 2012 Jul 5.