Details of Disease | DrugMAP

General Information of Disease (ID: DISZQ3U9)

Disease Name	Hand-foot-genital syndrome
Synonyms	HFU syndrome; hand foot genital syndrome; HFG; hand foot uterus syndrome; HFG syndrome; hand-foot-genital syndrome; hand-foot-uterus syndrome; HFGS
Definition	Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS7W23Z: Reproductive system disorder DIS3HIWD: Autosomal dominant disease DISZQ3U9: Hand-foot-genital syndrome
Disease Identifiers	MONDO ID MONDO_0007698 MESH ID C535627 UMLS CUI C1841679 OMIM ID 140000 MedGen ID 331103 Orphanet ID 2438 SNOMED CT ID 702425002

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
HOXA13	TTN26OM	Definitive	Autosomal dominant	[1]
HOXA13	TTN26OM	Definitive	Biomarker	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HOXD13	OTWSC8TF	Limited	Genetic Variation	[3]
HOXA13	OTTRI3KI	Definitive	Autosomal dominant	[1]
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References

1	Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5.
2	Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome.Hum Mol Genet. 2019 May 15;28(10):1671-1681. doi: 10.1093/hmg/ddz013.
3	The pathophysiology of HOX genes and their role in cancer.J Pathol. 2005 Jan;205(2):154-71. doi: 10.1002/path.1710.