MCID: HND004
MIFTS: 42

Hand-Foot-Genital Syndrome

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

Aliases & Classifications for Hand-Foot-Genital Syndrome

MalaCards integrated aliases for Hand-Foot-Genital Syndrome:

Name: Hand-Foot-Genital Syndrome 57 12 24 25 59 75 37 55 15
Hand-Foot-Uterus Syndrome 57 12 25 59 75 13 40
Hfgs 12 24 53 25 59
Hand Foot Uterus Syndrome 53 29 6 73
Hfg Syndrome 24 53 25 75
Hfu Syndrome 53 25 75
Hfg 57 75
Hfu 57 75
Hand-Foot-Uterus Syndrome; Hfu 57
Hand Foot Genital Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
hand-foot-genital syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hand-foot-genital syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Skeletal defects are 100% penetrant...

Classifications:



Summaries for Hand-Foot-Genital Syndrome

Genetics Home Reference : 25 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.

MalaCards based summary : Hand-Foot-Genital Syndrome, also known as hand-foot-uterus syndrome, is related to hypospadias and preaxial deficiency, postaxial polydactyly, and hypospadias. An important gene associated with Hand-Foot-Genital Syndrome is HOXA13 (Homeobox A13). Affiliated tissues include uterus, bone and cervix, and related phenotypes are recurrent urinary tract infections and hypospadias

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2438Disease definitionHand-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.

Disease Ontology : 12 A autosomal dominant disease 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.

Wikipedia : 76 Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild... more...

Description from OMIM: 140000
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:

# Related Disease Score Top Affiliating Genes
1 hypospadias 29.3 HOXA13 HOXD13
2 preaxial deficiency, postaxial polydactyly, and hypospadias 11.4
3 palatopharyngeal incompetence 10.0
4 synpolydactyly 9.9 HOXA13 HOXD13
5 chromosome 2q35 duplication syndrome 9.8 HOXA13 HOXD13

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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
renal insufficiency
chronic pyelonephritis
renal transplant

Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Skeletal Hands:
fifth finger clinodactyly
fifth finger brachydactyly
hypoplastic middle phalanges
short first metacarpal
proximally placed thumbs
more
Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
chordee
short penis

Skeletal Feet:
short first metatarsal
absent halluces
short halluces
medially deviated halluces
brachydactyly (2nd-5th toes)
more
Genitourinary Internal Genitalia Female:
longitudinal vaginal septum
double uterus
double cervix


Clinical features from OMIM:

140000

Human phenotypes related to Hand-Foot-Genital Syndrome:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
2 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
3 ureteropelvic junction obstruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000074
4 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
5 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
6 bicornuate uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000813
7 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
8 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
9 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
10 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
11 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
12 spontaneous abortion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005268
13 shortening of all middle phalanges of the fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0006110
14 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
15 hallux varus 59 32 frequent (33%) Frequent (79-30%) HP:0008080
16 microtia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008551
17 proximal placement of thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009623
18 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
19 short 1st metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010034
20 short first metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010105
21 short hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010109
22 hypoplastic fifth toenail 59 32 frequent (33%) Frequent (79-30%) HP:0011937
23 abnormality of the uterus 59 Very frequent (99-80%)
24 abnormality of the urethra 59 Frequent (79-30%)
25 short thumb 59 Very frequent (99-80%)
26 chordee 32 HP:0000041
27 bifid scrotum 32 HP:0000048
28 micropenis 32 HP:0000054
29 renal insufficiency 32 HP:0000083
30 brachydactyly 32 HP:0001156
31 delayed ossification of carpal bones 32 HP:0001216
32 small thenar eminence 32 HP:0001245
33 short 2nd toe 32 HP:0001885
34 uterus didelphys 32 HP:0003762
35 delayed tarsal ossification 32 HP:0008103
36 longitudinal vaginal septum 32 HP:0008740
37 short 5th finger 32 HP:0009237
38 ulnar deviation of the 2nd finger 32 HP:0009464
39 pseudoepiphyses 32 HP:0010584

GenomeRNAi Phenotypes related to Hand-Foot-Genital Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.1 HOXD13
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.1 HOXA13
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.1 HOXA13
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.1 HOXA13
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.1 HOXA13 HOXD13

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 HOXA11 HOXA13 HOXD13 HSP90AA1 NRXN1
2 limbs/digits/tail MP:0005371 9.55 HOXA11 HOXA13 HOXD13 HSP90AA1 NRXN1
3 reproductive system MP:0005389 9.26 HOXA11 HOXA13 HOXD13 HSP90AA1
4 skeleton MP:0005390 9.02 HOXA11 HOXA13 HOXD13 HSP90AA1 NRXN1

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 Uterus Syndrome 29 HOXA13

Anatomical Context for Hand-Foot-Genital Syndrome

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

41
Uterus, Bone, Cervix

Publications for Hand-Foot-Genital Syndrome

Articles related to Hand-Foot-Genital Syndrome:

(show all 22)
# Title Authors Year
1
Hand-foot-genital syndrome - analysis of two cases. ( 29638102 )
2018
2
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype. ( 29177010 )
2017
3
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability. ( 27649277 )
2017
4
A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family. ( 28947713 )
2017
5
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. ( 27272187 )
2016
6
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. ( 26590955 )
2015
7
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. ( 24934387 )
2014
8
Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome. ( 22631585 )
2012
9
Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome. ( 21549968 )
2011
10
A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of MA1llerian fusion anomalies. ( 19591980 )
2010
11
Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. ( 17935235 )
2007
12
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome. ( 12676922 )
2003
13
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? ( 12073020 )
2002
14
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot- genital syndrome. ( 10839976 )
2000
15
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. ( 10364539 )
1999
16
Mutation of HOXA13 in hand-foot-genital syndrome. ( 9020844 )
1997
17
Hand-Foot-Genital Syndrome ( 20301596 )
1993
18
The hand-foot-genital syndrome: on the variable expression in affected males. ( 8375102 )
1993
19
Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation. ( 1442892 )
1992
20
Hand-foot-genital syndrome: the importance of hallux varus. ( 2349017 )
1990
21
Urinary tract abnormalities in hand-foot-genital syndrome. ( 2774004 )
1989
22
A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome. ( 1156681 )
1975

Variations for Hand-Foot-Genital Syndrome

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXA13 NM_000522.4(HOXA13): c.1107G> A (p.Trp369Ter) single nucleotide variant Pathogenic rs104894019 GRCh37 Chromosome 7, 27237877: 27237877
2 HOXA13 NM_000522.4(HOXA13): c.1107G> A (p.Trp369Ter) single nucleotide variant Pathogenic rs104894019 GRCh38 Chromosome 7, 27198258: 27198258
3 HOXA13 HOXA13, 407A-C single nucleotide variant Pathogenic
4 HOXA13 HOXA13, 24-BP INS, 8-ALA EXP insertion Pathogenic
5 HOXA13 NM_000522.4(HOXA13): c.1114A> C (p.Asn372His) single nucleotide variant Pathogenic rs121912542 GRCh37 Chromosome 7, 27237870: 27237870
6 HOXA13 NM_000522.4(HOXA13): c.1114A> C (p.Asn372His) single nucleotide variant Pathogenic rs121912542 GRCh38 Chromosome 7, 27198251: 27198251
7 HOXA13 HOXA13, 18-BP INS, 6-ALA EXP insertion Pathogenic
8 HOXA13 HOXA13, 27-BP INS, 9-ALA EXP insertion Pathogenic
9 HOXA13 NM_000522.4(HOXA13): c.355_406dup (p.Ser136Cysfs) duplication Pathogenic rs387906542 GRCh37 Chromosome 7, 27239291: 27239342
10 HOXA13 NM_000522.4(HOXA13): c.355_406dup (p.Ser136Cysfs) duplication Pathogenic rs387906542 GRCh38 Chromosome 7, 27199672: 27199723

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 protein-containing complex GO:0032991 9.13 HOXA11 HSP90AA1 NRXN1
2 axonal growth cone GO:0044295 8.62 HSP90AA1 NRXN1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.37 HSP90AA1 NRXN1
2 anterior/posterior pattern specification GO:0009952 9.32 HOXA11 HOXD13
3 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.26 HSP90AA1 NRXN1
4 embryonic digit morphogenesis GO:0042733 9.16 HOXA11 HOXD13
5 embryonic limb morphogenesis GO:0030326 8.96 HOXA11 HOXD13
6 skeletal system development GO:0001501 8.8 HOXA11 HOXA13 HOXD13

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.8 HOXA11 HOXA13 HOXD13

Sources for Hand-Foot-Genital Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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