Details of Disease | DrugMAP

General Information of Disease (ID: DISIIYAQ)

Disease Name	Split hand-foot malformation 3
Synonyms	limb deficiencies distal with micrognathia; Buttiens Fryns syndrome; distal limb deficiencies-micrognathia syndrome; split-hand/foot malformation 3; chromosome 10Q24 Duplication syndrome; Shsf3; limb deficiencies, distal, with micrognathia; distal limb deficiencies with micrognathia; split-hand/foot malformation 3, gene duplication syndrome; chromosome 10q24 duplication syndrome; split hand-foot malformation 3; SHFM3; Buttiens-Fryns syndrome; split hand-foot malformation type 3; 10q24 microduplication syndrome; split-hand/foot malformation type 3
Definition	The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS8PKGD: Split hand-foot malformation DISZ88KZ: Partial duplication of the long arm of chromosome 10 DISIIYAQ: Split hand-foot malformation 3
Disease Identifiers	MONDO ID MONDO_0009525 MESH ID C565437 UMLS CUI C1838652 OMIM ID 246560 MedGen ID 325070 Orphanet ID 1307

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBXW4	OTEGSZOX	Limited	Autosomal dominant	[1]
BTRC	OT2EZDGR	Strong	Altered Expression	[2]
FBXO8	OTZNGJGW	Strong	Biomarker	[3]
SUFU	OT0IRYG1	Strong	Altered Expression	[2]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.Am J Med Genet A. 2006 Jul 1;140(13):1384-95. doi: 10.1002/ajmg.a.31247.
3	Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes.Am J Med Genet A. 2013 Oct;161A(10):2656-62. doi: 10.1002/ajmg.a.36146. Epub 2013 Aug 16.