Details of Disease | DrugMAP

General Information of Disease (ID: DIS9VUXS)

Disease Name	Congenital hereditary facial paralysis-variable hearing loss syndrome
Synonyms	congenital hereditary facial palsy with variable deafness; congenital hereditary facial paralysis with variable deafness; congenital hereditary facial palsy with variable hearing loss; congenital hereditary facial paralysis-variable deafness syndrome
Definition	Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISWKYNJ: Disorder of facial skeleton DIS9VUXS: Congenital hereditary facial paralysis-variable hearing loss syndrome
Disease Identifiers	MONDO ID MONDO_0017627 UMLS CUI C4302592 MedGen ID 928261 Orphanet ID 306530 SNOMED CT ID 722389002

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	Supportive	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.