Details of Disease | DrugMAP

General Information of Disease (ID: DISBGVUE)

Disease Name	Mandibulofacial dysostosis with alopecia
Synonyms	mandibulofacial dysostosis with alopecia; MFDA
Definition	A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
Disease Hierarchy	DISUEW2W: Hereditary otorhinolaryngologic disease DIS6SVEE: Syndromic disease DISTXWNT: Integumentary system disorder DISEGMSH: Mandibulofacial dysostosis DISHPNVX: Dysplasia DISBGVUE: Mandibulofacial dysostosis with alopecia
Disease Identifiers	MONDO ID MONDO_0014608 UMLS CUI C4225349 OMIM ID 616367 MedGen ID 898794 Orphanet ID 443995 SNOMED CT ID 1216943004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EDNRA	TTKRD0G	Strong	Biomarker	[1]
EDNRA	TTKRD0G	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDNRA	OTK9T5O3	Definitive	Autosomal dominant	[2]
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References

1	Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.Mamm Genome. 2016 Dec;27(11-12):587-598. doi: 10.1007/s00335-016-9664-5. Epub 2016 Sep 26.
2	Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12.