Hand-Foot-Genital Syndrome (HOXA13)
| Dred_ID | RD00019 |
| OMIM ID | 140000 |
| Disease name | Hand-Foot-Genital Syndrome |
| Alternative names | HFGS, HFG Syndrome Hand-foot-uterus Syndrome HFU |
| Category | Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Fetal diseases |
| Phenotype | NIH Rare Diseases: Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.Visit the Orphanet disease page for more resources.
OMIM: Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include: abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females; hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal. |
| Miscellaneouse | Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy; |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | Autosomal dominant |
| Anticipation | N/A |
| Evidence | Strong |
| Gene symbol | HOXA13 |
| Alias symbols | HOX1; HOX1J |
| Gene name | homeobox A13 |
| Gene map locus | 7p15.2; chr7:27,193,503-27,200,091(-) |
| Ensembl Gene ID | ENSG00000106031 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008] |
| Repeat unit | GCG |
| Normal repeat copies | 12-18 |
| Pathogenic repeat copies | ≥24 |
| Gene | HOXA13 |
| Repeat location | CDS |
| Chromosome locus | chr7:27199826-27199861 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | Protein |
| Possible toxicity | In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [By OMIM] |
| Pathway annotation | Reactome, KEGG |
| PMID | 10839976 |
| Authors | Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ |
| Title | Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome |
| Journal | Am J Hum Genet. 67(1):197-202 |
| Year | 2000 |
| PMID | 23532960 |
| Authors | Owens KM, Quinonez SC, Thomas PE, Keegan CE, Lefebvre N, Roulston D, Larsen CA, Stadler HS, Innis JW |
| Title | Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation |
| Journal | Am J Med Genet A. 161A(5):1019-27 |
| Year | 2013 |
| PMID | 19591980 |
| Authors | Jorgensen EM , Ruman JI, Doherty L, Taylor HS |
| Title | A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies |
| Journal | Fertil Steril. 94(4):1235-8 |
| Year | 2010 |