HFG
MCID: HND004
MIFTS: 47

Hand-Foot-Genital Syndrome (HFG)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hand-Foot-Genital Syndrome

MalaCards integrated aliases for Hand-Foot-Genital Syndrome:

Name: Hand-Foot-Genital Syndrome 57 12 25 43 58 72 36 29 54 6 15
Hand-Foot-Uterus Syndrome 57 12 73 43 58 72 13
Hfgs 12 25 20 43 58
Hfg Syndrome 25 20 43 72
Hfu Syndrome 20 43 72
Hand Foot Uterus Syndrome 20 70
Hfg 57 72
Hfu 57 72
Hand-Foot-Uterus Syndrome; Hfu 57
Syndrome, Hand-Foot-Genital 39
Hand Foot Genital Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
hand-foot-genital syndrome
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hand-foot-genital syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Skeletal defects are 100% penetrant....

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hand-Foot-Genital Syndrome

MedlinePlus Genetics : 43 Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardening of bones in the wrists and ankles. The other bones in the arms and legs are normal.Abnormalities of the genitals and urinary tract can vary among affected individuals. Many people with hand-foot-genital syndrome have defects in the ureters, which are tubes that carry urine from each kidney to the bladder, or in the urethra, which carries urine from the bladder to the outside of the body. Recurrent urinary tract infections and an inability to control the flow of urine (urinary incontinence) have been reported. About half of males with this disorder have the urethra opening on the underside of the penis (hypospadias).People with hand-foot-genital syndrome are usually able to have children (fertile). In some affected females, problems in the early development of the uterus can later increase the risk of pregnancy loss, premature labor, and stillbirth.

MalaCards based summary : Hand-Foot-Genital Syndrome, also known as hand-foot-uterus syndrome, is related to preaxial deficiency, postaxial polydactyly, and hypospadias and hypospadias. An important gene associated with Hand-Foot-Genital Syndrome is HOXA13 (Homeobox A13). Affiliated tissues include uterus and cervix, and related phenotypes are short hallux and short distal phalanx of finger

Disease Ontology : 12 A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has material basis in heterozygous mutation in the HOXA13 gene on chromosome 7p15.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2438 Definition Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

OMIM® : 57 Hand-foot-genital syndrome (HFGS) is an autosomal dominant condition characterized by distal limb and distal genitourinary tract malformations. The most striking limb abnormality is first-digit hypoplasia, comprising short, proximally placed thumbs with hypoplastic thenar eminences and short, medially deviated halluces. There is also ulnar deviation of the second fingers, clinodactyly/brachydactyly of the fifth fingers, brachydactyly of the second to fifth toes, and delayed ossification, fusion, and shortening of the carpals and tarsals. These abnormalities appear to be fully penetrant, bilateral, and symmetrical, with little variation in severity. In contrast, genitourinary tract abnormalities are incompletely penetrant and variably severe, and include hypospadias in males, Mullerian duct fusion defects in females, vesicoureteric reflux, and pelviureteric junction obstruction (summary by Goodman et al., 2000). (140000) (Updated 05-Apr-2021)

KEGG : 36 Hand-foot-genital syndrome is very rare dominantly inherited condition affecting the development of the limbs and genitourinary tract.

UniProtKB/Swiss-Prot : 72 Hand-foot-genital syndrome: A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract.

Wikipedia : 73 Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13... more...

GeneReviews: NBK1423

Related Diseases for Hand-Foot-Genital Syndrome

Diseases related to Hand-Foot-Genital Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 preaxial deficiency, postaxial polydactyly, and hypospadias 32.2 HOXD13 HOXD10 HOXC13 HOXB1 HOXA2 HOXA13
2 hypospadias 31.0 MAMLD1 HOXD13 HOXA13
3 chromosome 2q35 duplication syndrome 30.2 HOXD9 HOXD13 HOXD12 HOXA13
4 brachydactyly 30.1 HOXD9 HOXD13 HOXD12 HOXD10
5 synpolydactyly 30.0 HOXD9 HOXD13 HOXD12 HOXD10 HOXA13
6 ectodermal dysplasia 6, hair/nail type 10.3 HOXC13 HOXA13
7 athabaskan brainstem dysgenesis syndrome 10.3 HOXB1 HOXA13
8 ectodermal dysplasia 5, hair/nail type 10.3 HOXC13 HOXA13
9 brachydactyly, type a4 10.3 HOXD13 HOXD12
10 ectodermal dysplasia 9, hair/nail type 10.3 HOXC13 HOXA13
11 ectodermal dysplasia 7, hair/nail type 10.3 HOXC13 HOXA13
12 syndactyly, type iv 10.3 HOXD13 HOXD12
13 isolated growth hormone deficiency type iii 10.3 HOXD13 HOXA13 FOXL2
14 tibia, hypoplasia or aplasia of, with polydactyly 10.2 HOXD13 HOXD12
15 acrofrontofacionasal dysostosis 10.2 ZIC2 HIBADH
16 combined oxidative phosphorylation deficiency 5 10.2 HOXA2 FOXL2
17 brachydactyly, type d 10.2 HOXD13 HOXD12
18 brachydactyly, type e1 10.2 HOXD13 HOXD12
19 congenital anomalies of kidney and urinary tract 2 10.2
20 tarsal coalition 10.2
21 vesicoureteral reflux 1 10.2
22 bunion 10.2
23 bicornuate uterus 10.2
24 brachydactyly-syndactyly syndrome 10.2 HOXD13 HOXD12 HOXD10
25 vertical talus, congenital 10.2 HOXD12 HOXD10 HOXC13
26 currarino syndrome 10.1 HOXD13 HOXA@
27 cornelia de lange syndrome 1 10.1
28 holt-oram syndrome 10.1
29 ellis-van creveld syndrome 10.1
30 focal dermal hypoplasia 10.1
31 cornelia de lange syndrome 10.1
32 congenital amyoplasia 10.1
33 renal cell carcinoma, nonpapillary 10.0
34 uterine anomalies 10.0
35 polydactyly 10.0
36 urinary tract infection 10.0
37 chronic pyelonephritis 10.0
38 hydronephrosis 10.0
39 pyelonephritis 10.0
40 acute cystitis 10.0
41 embryonal rhabdomyosarcoma 10.0
42 rhabdomyosarcoma 10.0
43 cervical incompetence 10.0
44 longitudinal vaginal septum 10.0
45 congenital limb malformation 10.0
46 autosomal anomaly 10.0
47 cryptorchidism, unilateral or bilateral 10.0 MAMLD1 HOXA13 HOXA11
48 pallister-hall syndrome 10.0 ZIC2 HOXD13
49 syndactyly, type v 10.0 HOXD9 HOXD13 HOXD12 HOXD10 HOXA13
50 mulchandani-bhoj-conlin syndrome 9.9

Graphical network of the top 20 diseases related to Hand-Foot-Genital Syndrome:



Diseases related to Hand-Foot-Genital Syndrome

Symptoms & Phenotypes for Hand-Foot-Genital Syndrome

Human phenotypes related to Hand-Foot-Genital Syndrome:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
2 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
3 proximal placement of thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009623
4 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
5 ureteropelvic junction obstruction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000074
6 short 1st metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010034
7 bicornuate uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000813
8 shortening of all middle phalanges of the fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0006110
9 short first metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010105
10 abnormal dermatoglyphics 58 31 frequent (33%) Frequent (79-30%) HP:0007477
11 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
12 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
13 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
14 recurrent urinary tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0000010
15 hypoplastic fifth toenail 58 31 frequent (33%) Frequent (79-30%) HP:0011937
16 hallux varus 58 31 frequent (33%) Frequent (79-30%) HP:0008080
17 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
20 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
21 postaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001162
22 spontaneous abortion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005268
23 renal insufficiency 31 HP:0000083
24 brachydactyly 31 HP:0001156
25 micropenis 31 HP:0000054
26 bifid scrotum 31 HP:0000048
27 abnormality of the uterus 58 Very frequent (99-80%)
28 short thumb 58 Very frequent (99-80%)
29 abnormality of the urethra 58 Frequent (79-30%)
30 short 5th finger 31 HP:0009237
31 uterus didelphys 31 HP:0003762
32 short 2nd toe 31 HP:0001885
33 pyelonephritis 31 HP:0012330
34 chordee 31 HP:0000041
35 small thenar eminence 31 HP:0001245
36 delayed ossification of carpal bones 31 HP:0001216
37 ulnar deviation of the 2nd finger 31 HP:0009464
38 delayed tarsal ossification 31 HP:0008103
39 longitudinal vaginal septum 31 HP:0008740
40 pseudoepiphyses 31 HP:0010584

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
renal insufficiency
chronic pyelonephritis
renal transplant

Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Genitourinary Internal Genitalia Female:
longitudinal vaginal septum
double uterus
double cervix

Genitourinary External Genitalia Male:
bifid scrotum
hypospadias
chordee
short penis

Skeletal Feet:
short first metatarsal
absent halluces
short halluces
medially deviated halluces
brachydactyly (2nd-5th toes)
more
Skeletal Hands:
pseudoepiphyses
fifth finger clinodactyly
fifth finger brachydactyly
hypoplastic middle phalanges
short first metacarpal
more

Clinical features from OMIM®:

140000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hand-Foot-Genital Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.03 EVX1 FOXL2 HOXA11 HOXA13 HOXA2 HOXA3
2 endocrine/exocrine gland MP:0005379 10.02 FOXL2 HOXA11 HOXA13 HOXA3 HOXB1 HOXD13
3 digestive/alimentary MP:0005381 9.97 HOXA13 HOXA2 HOXA3 HOXC13 HOXD12 HOXD13
4 limbs/digits/tail MP:0005371 9.96 HOXA11 HOXA13 HOXA3 HOXC13 HOXD10 HOXD12
5 muscle MP:0005369 9.56 HOXA2 HOXA3 HOXB1 HOXD10 HOXD12 HOXD13
6 skeleton MP:0005390 9.44 HOXA11 HOXA13 HOXA2 HOXA3 HOXB1 HOXC13

Drugs & Therapeutics for Hand-Foot-Genital Syndrome

Search Clinical Trials , NIH Clinical Center for Hand-Foot-Genital Syndrome

Genetic Tests for Hand-Foot-Genital Syndrome

Genetic tests related to Hand-Foot-Genital Syndrome:

# Genetic test Affiliating Genes
1 Hand-Foot-Genital Syndrome 29 HOXA13

Anatomical Context for Hand-Foot-Genital Syndrome

MalaCards organs/tissues related to Hand-Foot-Genital Syndrome:

40
Uterus, Cervix

Publications for Hand-Foot-Genital Syndrome

Articles related to Hand-Foot-Genital Syndrome:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. 25 57 6 61 54
10839976 2000
2
Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation. 61 6 57 25
1442892 1992
3
The hand-food-uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract. 6 57 25
5450271 1970
4
Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. 54 25 6 61
17935235 2007
5
Mutation of HOXA13 in hand-foot-genital syndrome. 57 25 61 54
9020844 1997
6
Urinary tract abnormalities in hand-foot-genital syndrome. 57 6 61
2774004 1989
7
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? 61 25 6
12073020 2002
8
Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies. 61 57 25
6862042 1983
9
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. 25 6
12414828 2002
10
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome. 61 54 25
12676922 2003
11
The hand-foot-genital syndrome: on the variable expression in affected males. 57 61
8375102 1993
12
Hand-foot-genital syndrome: the importance of hallux varus. 61 57
2349017 1990
13
The hand-foot-genital (hand-foot-uterus) syndrome: family report and update. 61 57
3189398 1988
14
A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome. 61 57
1156681 1975
15
Radiographic findings in the hand-foot-uterus syndrome (HFUS). 57 61
5417032 1970
16
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. 61 25
27649277 2017
17
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. 61 25
26590955 2016
18
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. 61 25
24934387 2014
19
Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation. 61 25
23532960 2013
20
Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster. 25 61
21344639 2011
21
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. 61 25
19591980 2010
22
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. 25 61
15378350 2004
23
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. 61 25
15385446 2004
24
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. 61 25
11968094 2002
25
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. 61 25
10364539 1999
26
The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation. 6
8673126 1996
27
Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. 25 61
8484413 1993
28
Acral-genital anomalies combined with ear anomalies. 57
2596533 1989
29
Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome. 57
987572 1976
30
A community of human malformation syndromes involving the Müllerian ducts, distal extremities, urinary tract, and ears. 57
4855855 1974
31
HOXA genes cluster: clinical implications of the smallest deletion. 25
25881986 2015
32
Human HOX gene disorders. 25
24239177 2014
33
HOX genes: seductive science, mysterious mechanisms. 54 61
16457401 2006
34
The pathophysiology of HOX genes and their role in cancer. 54 61
15643670 2005
35
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. 25
14519685 2003
36
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. 25
14675924 2003
37
Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for Hoxa13. 54 61
11830557 2002
38
Evolution of N-terminal sequences of the vertebrate HOXA13 protein. 25
10656931 2000
39
A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies. 25
3706400 1986
40
"Hand foot genital syndrome": Proposition of a new term, induced by Sunitinib in a patient of metastatic renal cell carcinoma. 61
33480072 2021
41
An unusual manifestation of Hand-Foot-Genital Syndrome: Embryonal Rhabdomyosarcoma - A case report. 61
33520218 2021
42
50 Years Ago in The Journal of Pediatrics: Hand-Foot-Genital Syndrome and Its Multiple Genetic Mechanisms. 61
32586521 2020
43
Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome. 61
30649340 2019
44
Hand-foot-genital syndrome - analysis of two cases. 61
29638102 2018
45
A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family. 61
28947713 2017
46
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype. 61
29177010 2017
47
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system]. 61
27013621 2016
48
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. 61
27272187 2016
49
Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome. 61
22631585 2012
50
Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster. 61
22570644 2011

Variations for Hand-Foot-Genital Syndrome

ClinVar genetic disease variations for Hand-Foot-Genital Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXA13 NM_000522.5(HOXA13):c.1107G>A (p.Trp369Ter) SNV Pathogenic 14889 rs104894019 GRCh37: 7:27237877-27237877
GRCh38: 7:27198258-27198258
2 LOC107126288 , HOXA13 NM_000522.5(HOXA13):c.407C>A (p.Ser136Ter) SNV Pathogenic 14890 rs1158254994 GRCh37: 7:27239290-27239290
GRCh38: 7:27199671-27199671
3 HOXA13 HOXA13, 24-BP INS, 8-ALA EXP Insertion Pathogenic 14891 GRCh37:
GRCh38:
4 HOXA13 NM_000522.5(HOXA13):c.1114A>C (p.Asn372His) SNV Pathogenic 14892 rs121912542 GRCh37: 7:27237870-27237870
GRCh38: 7:27198251-27198251
5 HOXA13 HOXA13, 18-BP DUP, ALANINE TRACT EXPANSION Insertion Pathogenic 14894 GRCh37:
GRCh38:
6 HOXA13 HOXA13, 27-BP DUP, ALANINE TRACT EXPANSION Insertion Pathogenic 14895 GRCh37:
GRCh38:
7 LOC107126288 , HOXA13 NM_000522.5(HOXA13):c.355_406dup (p.Ser136fs) Duplication Pathogenic 14896 rs387906542 GRCh37: 7:27239290-27239291
GRCh38: 7:27199671-27199672

UniProtKB/Swiss-Prot genetic disease variations for Hand-Foot-Genital Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 HOXA13 p.Asn372His VAR_017776 rs121912542
2 HOXA13 p.Ile368Phe VAR_075341
3 HOXA13 p.Val375Phe VAR_075342

Expression for Hand-Foot-Genital Syndrome

Search GEO for disease gene expression data for Hand-Foot-Genital Syndrome.

Pathways for Hand-Foot-Genital Syndrome

GO Terms for Hand-Foot-Genital Syndrome

Cellular components related to Hand-Foot-Genital Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.06 ZIC2 PABPN1 MAMLD1 HSP90AA1 HOXD9 HOXD13
2 nucleoplasm GO:0005654 9.77 ZIC2 PABPN1 MAMLD1 HSP90AA1 HOXD9 HOXD13
3 chromatin GO:0000785 9.36 HOXD9 HOXD13 HOXD12 HOXD10 HOXC13 HOXB1
4 axonal growth cone GO:0044295 9.26 NRXN1 HSP90AA1

Biological processes related to Hand-Foot-Genital Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 HOXD9 HOXD13 HOXD10 HOXC13 HOXB1 HOXA2
2 regulation of transcription, DNA-templated GO:0006355 10.03 HOXD9 HOXD13 HOXD12 HOXD10 HOXC13 HOXB1
3 multicellular organism development GO:0007275 9.93 ZIC2 HOXD9 HOXD13 HOXD12 HOXD10 HOXC13
4 skeletal system development GO:0001501 9.8 HOXD13 HOXD12 HOXD10 HOXA13 HOXA11
5 regulation of transcription by RNA polymerase II GO:0006357 9.8 ZIC2 MAMLD1 HOXD9 HOXD13 HOXD12 HOXD10
6 anatomical structure morphogenesis GO:0009653 9.77 HOXC13 HOXB1 HOXA13 HOXA11 FOXL2
7 single fertilization GO:0007338 9.74 HOXD9 HOXD10 HOXA11
8 pattern specification process GO:0007389 9.73 HOXD13 HOXD12 HOXB1 HOXA2
9 embryonic skeletal system morphogenesis GO:0048704 9.72 HOXD9 HOXD10 HOXB1 HOXA3 HOXA2
10 embryonic digit morphogenesis GO:0042733 9.7 HOXD13 HOXD12 HOXA11
11 embryonic limb morphogenesis GO:0030326 9.69 HOXD13 HOXD10 HOXA11
12 embryonic forelimb morphogenesis GO:0035115 9.67 HOXD9 HOXA13 HOXA11
13 proximal/distal pattern formation GO:0009954 9.65 HOXD9 HOXD10 HOXA11
14 male genitalia development GO:0030539 9.58 HOXD13 HOXA13
15 peripheral nervous system neuron development GO:0048935 9.56 HOXD9 HOXD10
16 hindlimb morphogenesis GO:0035137 9.55 HOXD9 HOXD10
17 forelimb morphogenesis GO:0035136 9.54 HOXD9 HOXD10
18 anterior/posterior pattern specification GO:0009952 9.23 HOXD9 HOXD13 HOXD10 HOXC13 HOXB1 HOXA3

Molecular functions related to Hand-Foot-Genital Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.07 ZIC2 HOXD9 HOXD13 HOXD12 HOXD10 HOXC13
2 DNA-binding transcription factor activity GO:0003700 9.97 ZIC2 HOXD9 HOXD13 HOXD10 HOXA3 HOXA2
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.93 ZIC2 HOXD9 HOXD13 HOXD10 HOXC13 HOXB1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.77 HOXD13 HOXD10 HOXC13 HOXB1 HOXA13
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 ZIC2 HOXD9 HOXD13 HOXD12 HOXD10 HOXC13
6 sequence-specific double-stranded DNA binding GO:1990837 9.36 HOXD9 HOXD13 HOXD12 HOXD10 HOXC13 HOXB1

Sources for Hand-Foot-Genital Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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