Details of Disease

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.