Details of Disease | DrugMAP

General Information of Disease (ID: DISGX3R9)

Disease Name	Postaxial acrofacial dysostosis
Synonyms	POADS syndrome; Genee-Wiedemann syndrome; Genee-Wiedemann acrofacial dysostosis; Wildervanck-Smith syndrome; GWAFD; postaxial acrofacial dysostosis (POADS) syndrome; postaxial acrodysostosis; acrofacial dysostosis, Genee-Wiedmann type; Mandibulfacial dysostosis with postaxial limb anomalies; postaxial acrofacial dysostosis; Miller syndrome; POADS; Miller Syndrome
Definition	Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISNBM5T: Acrofacial dysostosis DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISGX3R9: Postaxial acrofacial dysostosis
Disease Identifiers	MONDO ID MONDO_0009903 MESH ID C537680 UMLS CUI C0265257 OMIM ID 263750 MedGen ID 120522 Orphanet ID 246 SNOMED CT ID 66038001

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
DHODH	TTLVP78	Strong	Biomarker	[1]
DHODH	TTLVP78	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DHODH	OTAKFN78	Definitive	Autosomal recessive	[2]
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References

1	High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14.
2	Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.