Details of Disease | DrugMAP

General Information of Disease (ID: DISEHK38)

Disease Name	Split hand-foot malformation 1 with sensorineural hearing loss
Synonyms	deafness, congenital, with split hands and feet; split hand-split foot-deafness syndrome; split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive; congenital deafness with split hands and feet; split hand-foot malformation 1 with sensorineural hearing loss; split-hand/foot malformation 1 with sensorineural hearing loss; SHFM1D
Definition	Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.\|DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features
Disease Hierarchy	DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS5Z8U6: Skeletal dysplasia DISEHK38: Split hand-foot malformation 1 with sensorineural hearing loss
Disease Identifiers	MONDO ID MONDO_0009080 MESH ID C565647 UMLS CUI C1857344 OMIM ID 220600 MedGen ID 347431 Orphanet ID 71271 SNOMED CT ID 723611008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLX6	OT0FIJHY	Limited	Biomarker	[1]
DLX5	OTEEFBEU	Strong	Autosomal dominant	[2]
BHLHA9	OT80XOJB	Definitive	Autosomal dominant	[3]
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References

1	A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. Mol Syndromol. 2017 Mar;8(2):79-84. doi: 10.1159/000453350. Epub 2016 Dec 20.
2	Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet. 2012 Jan;49(1):16-20. doi: 10.1136/jmedgenet-2011-100556. Epub 2011 Nov 25.
3	Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6.