HFG HOXA13-I

Disease ID
HFG-I
Gene ID
HOXA13
Other gene loci (3)
HFG_HOXA13-IHFG_HOXA13-IIHFG_HOXA13-III
Clinical Links
GARD
2594
GeneReviews
NBK1423
MalaCard
HND004
MedGen
331103
Mondo
0007698
OMIM
140000
Orphanet
2438
Bioinformatical Links
gnomAD
HOXA13_1
STRipy
HOXA13_1
TR-Atlas
TR74138
WebSTR hg38
5679832
WebSTR hg19
STR_1311037

Disease

HFGS
Name
Hand-foot-genital syndrome 1
Inheritance
Autosomal dominant
Description
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects1 .
Prevalence
Extremely rare, published cases generally European ancestry or unknown2,3,4 .
Age of OnsetYears0  0
Age of Onset Details
0 (birth)

Locus

hg19
chr7:27239543-27239585
hg38
chr7:27199924-27199966
t2t
chr7:27335920-27335951
Details
Anticipation does not occur, and expansions appear fully penetrant4 .
Mechanism
LoF
Polyalanine expansions leading to haploinsufficiency4
Year
20042
Location in Gene
Exon 1
Gene Strand

Alleles

Ref. Motif
NGC
Pathogenic (ref.)
NGC
Pathogenic (gene)
CNG
BenignPathogenicUnits14  1422  22

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0007698
2
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.
Jeffrey W,Innis, Douglas,Mortlock, Zhi,Chen, Michael,Ludwig, Melissa E,Williams, Thomas M,Williams, Colleen D,Doyle, Zhihong,Shao, Michael,Glynn, Davor,Mikulic, Katarina,Lehmann, Stefan,Mundlos, Boris,Utsch
Human molecular genetics · 2004-09-22
pmid:15385446
3
Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.
Boris,Utsch, Colleen D,McCabe, Kenneth,Galbraith, Ricardo,Gonzalez, Mark,Born, Jörg,Dötsch, Michael,Ludwig, Heiko,Reutter, Jeffrey W,Innis
American journal of medical genetics. Part A · 2007-12-15
pmid:17935235
4
Hand-Foot-Genital Syndrome
Jeffrey W.,Innis
GeneReviews® · 1993-01-01
genereviews:NBK1423

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease.
Shaon,Basu, Sebastian D,Mackowiak, Henri,Niskanen, Dora,Knezevic, Vahid,Asimi, Stefanie,Grosswendt, Hylkje,Geertsema, Salaheddine,Ali, Ivana,Jerković, Helge,Ewers, Stefan,Mundlos, Alexander,Meissner, Daniel M,Ibrahim, Denes,Hnisz
Cell · 2020-05-07
pmid:32386547
Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.
Kailey M,Owens, Shane C,Quinonez, Peedikayil E,Thomas, Catherine E,Keegan, Nanci,Lefebvre, Diane,Roulston, Christine A,Larsen, H Scott,Stadler, Jeffrey W,Innis
American journal of medical genetics. Part A · 2013-03-26
pmid:23532960
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.
Elisa M,Jorgensen, Jane I,Ruman, Leo,Doherty, Hugh S,Taylor
Fertility and sterility · 2009-07-09
pmid:19591980
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
P,Debeer, C,Bacchelli, P J,Scambler, L,De Smet, J-P,Fryns, F R,Goodman
Journal of medical genetics · 2002-11-01
pmid:12414828
The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.
S,Bruneau, K R,Johnson, M,Yamamoto, A,Kuroiwa, D,Duboule
Developmental biology · 2001-09-15
pmid:11543619