MCID: HND003
MIFTS: 45

Hand-Foot-Uterus Syndrome

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

Aliases & Classifications for Hand-Foot-Uterus Syndrome

MalaCards integrated aliases for Hand-Foot-Uterus Syndrome:

Name: Hand-Foot-Uterus Syndrome 54 12 24 25 56 71 13
Hand-Foot-Genital Syndrome 12 23 24 25 56 71 52 14
Hfgs 12 23 50 24 25 56
Hfg Syndrome 23 50 24 25 71
Hand Foot Uterus Syndrome 50 29 69
Hfu Syndrome 50 25 71
Hand Foot Genital Syndrome 50
Urogenital Abnormalities 42
Hfu 71
Hfg 71

Characteristics:

Orphanet epidemiological data:

56
hand-foot-genital syndrome
Inheritance: Autosomal dominant;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


GeneReviews:

23
Penetrance Skeletal defects are 100% penetrant...

Classifications:



Summaries for Hand-Foot-Uterus Syndrome

NIH Rare Diseases : 50 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. last updated: 1/1/2014

MalaCards based summary : Hand-Foot-Uterus Syndrome, also known as hand-foot-genital syndrome, is related to guttmacher syndrome and dk phocomelia syndrome, and has symptoms including strabismus, recurrent urinary tract infections and hypospadias. An important gene associated with Hand-Foot-Uterus Syndrome is HOXA13 (Homeobox A13), and among its related pathways/superpathways is MECP2 and Associated Rett Syndrome. Affiliated tissues include uterus, bone and cervix, and related phenotypes are Increased shRNA abundance (Z-score > 2) and limbs/digits/tail

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.

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.

UniProtKB/Swiss-Prot : 71 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 : 72 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-Uterus Syndrome

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 guttmacher syndrome 11.3
2 dk phocomelia syndrome 10.6
3 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 10.6
4 hypotonia, ataxia, and delayed development syndrome 10.6
5 alpha-thalassemia/mental retardation syndrome 10.6
6 tsen34-related pontocerebellar hypoplasia 10.3 HOXA13 HOXD13
7 cardiomyopathy, familial hypertrophic, 9 10.1 DLX5 HOXD13
8 simosa craniofacial syndrome 10.0 HOXA13 HOXD13
9 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0 DLX5 DLX6
10 hypospadias 9.9
11 torsion dystonia 13 9.9 DLX5 DLX6
12 hypotrichosis 7 9.9 DLX5 DLX6
13 brachydactyly-syndactyly syndrome 9.9 HOXD10 HOXD13
14 lower limb deficiency-hypospadias syndrome 9.9 DLX5 DLX6
15 duane retraction syndrome 2 9.8 HOXD10 HOXD13
16 congenital absence of thigh and lower leg with foot present 9.8 DLX5 DLX6
17 specific language impairment 9.8 HOXD10 HOXD13
18 hay-wells syndrome 9.8 DLX5 DLX6
19 growth hormone deficiency 9.7
20 encephalopathy, neonatal severe 9.7 DLX5 DLX6
21 tooth disease 9.7 HOXA13 HOXD13
22 thrombocytopenia 9.6
23 congenital hypothyroidism 9.6
24 thrombosis 9.6
25 split hand-foot malformation 9.6
26 polydactyly 9.6
27 oligohydramnios 9.6
28 hypothyroidism 9.6
29 cleft lip 9.6
30 encephalocele 9.6
31 silver-russell syndrome 9.6
32 phocomelia 9.6
33 denys-drash syndrome 9.6
34 rectal duplication 9.6
35 cleft lip/palate 9.6
36 split hand 9.6
37 nephrotic syndrome 9.5 HOXD10 HOXD13
38 myelodysplasia and leukemia syndrome with monosomy 7 7.8 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13

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



Diseases related to Hand-Foot-Uterus Syndrome

Symptoms & Phenotypes for Hand-Foot-Uterus Syndrome

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- External Genitalia Male:
hypospadias
bifid scrotum
chordee
short penis

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


Clinical features from OMIM:

140000

Human phenotypes related to Hand-Foot-Uterus Syndrome:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
2 recurrent urinary tract infections 56 32 frequent (33%) Frequent (79-30%) HP:0000010
3 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
4 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
5 vesicoureteral reflux 56 32 frequent (33%) Frequent (79-30%) HP:0000076
6 bicornuate uterus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000813
7 ureteropelvic junction obstruction 56 32 hallmark (90%) Very frequent (99-80%) HP:0000074
8 microtia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008551
9 short hallux 56 32 hallmark (90%) Very frequent (99-80%) HP:0010109
10 sacral dimple 56 32 occasional (7.5%) Occasional (29-5%) HP:0000960
11 short first metatarsal 56 32 hallmark (90%) Very frequent (99-80%) HP:0010105
12 hallux varus 56 32 frequent (33%) Frequent (79-30%) HP:0008080
13 abnormal dermatoglyphics 56 32 frequent (33%) Frequent (79-30%) HP:0007477
14 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
15 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
16 synostosis of carpal bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0005048
17 proximal placement of thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0009623
18 postaxial hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001162
19 short 1st metacarpal 56 32 hallmark (90%) Very frequent (99-80%) HP:0010034
20 hypoplastic fifth toenail 56 32 frequent (33%) Frequent (79-30%) HP:0011937
21 spontaneous abortion 56 32 occasional (7.5%) Occasional (29-5%) HP:0005268
22 shortening of all middle phalanges of the fingers 56 32 hallmark (90%) Very frequent (99-80%) HP:0006110
23 brachydactyly 32 HP:0001156
24 micropenis 32 HP:0000054
25 renal insufficiency 32 HP:0000083
26 bifid scrotum 32 HP:0000048
27 delayed tarsal ossification 32 HP:0008103
28 short thumb 56 Very frequent (99-80%)
29 pseudoepiphyses 32 HP:0010584
30 chordee 32 HP:0000041
31 longitudinal vaginal septum 32 HP:0008740
32 uterus didelphys 32 HP:0003762
33 abnormality of the uterus 56 Very frequent (99-80%)
34 abnormality of the urethra 56 Frequent (79-30%)
35 short 5th finger 32 HP:0009237
36 short 2nd toe 32 HP:0001885
37 small thenar eminence 32 HP:0001245
38 delayed ossification of carpal bones 32 HP:0001216
39 ulnar deviation of the 2nd finger 32 HP:0009464

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 HOXD13
2 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.6 HOXD13
3 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.6 HOXA13
4 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.6 HOXA13
5 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.6 HOXA13 HOXD13 DLX6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.6 HOXA13
7 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.6 HOXA13
8 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.6 HOXD13
9 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.6 HOXD13
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.6 HOXD13
11 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.6 HOXA13
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.6 DLX6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 HOXD13
14 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.6 DLX6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.6 HOXD13
16 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.6 HOXD13
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 DLX6

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.73 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13
2 digestive/alimentary MP:0005381 9.71 DLX5 DLX6 HOXA13 HOXD13
3 embryo MP:0005380 9.67 DLX5 DLX6 HOXA13 HOXD13
4 mortality/aging MP:0010768 9.63 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13
5 integument MP:0010771 9.62 DLX5 DLX6 HOXA13 HOXD13
6 renal/urinary system MP:0005367 9.26 HOXA11 HOXA13 HOXD10 HOXD13
7 skeleton MP:0005390 9.1 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13

Drugs & Therapeutics for Hand-Foot-Uterus Syndrome

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

Cochrane evidence based reviews: urogenital abnormalities

Genetic Tests for Hand-Foot-Uterus Syndrome

Genetic tests related to Hand-Foot-Uterus Syndrome:

id Genetic test Affiliating Genes
1 Hand Foot Uterus Syndrome 29
2 Hand-Foot-Genital Syndrome 24 HOXA13

Anatomical Context for Hand-Foot-Uterus Syndrome

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

39
Uterus, Bone, Cervix

Publications for Hand-Foot-Uterus Syndrome

Articles related to Hand-Foot-Uterus Syndrome:

id Title Authors Year
1
The hand-foot-genital (hand-foot-uterus) syndrome: family report and update. ( 3189398 )
1988
2
The hand-foot-uterus syndrome: a case study. ( 3772265 )
1986
3
Radiographic findings in the hand-foot-uterus syndrome (HFUS). ( 5417032 )
1970
4
Hand-foot-uterus syndrome. ( 4179869 )
1969

Variations for Hand-Foot-Uterus Syndrome

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

71
id 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-Uterus Syndrome:

6
id 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 HOXA13, 407A-C single nucleotide variant Pathogenic
3 HOXA13 HOXA13, 24-BP INS, 8-ALA EXP insertion Pathogenic
4 HOXA13 NM_000522.4(HOXA13): c.1114A> C (p.Asn372His) single nucleotide variant Pathogenic rs121912542 GRCh37 Chromosome 7, 27237870: 27237870
5 HOXA13 HOXA13, 18-BP INS, 6-ALA EXP insertion Pathogenic
6 HOXA13 HOXA13, 27-BP INS, 9-ALA EXP insertion Pathogenic
7 HOXA13 NM_000522.4(HOXA13): c.355_406dup52 (p.Ser136Cysfs) duplication Pathogenic rs387906542 GRCh37 Chromosome 7, 27239291: 27239342

Expression for Hand-Foot-Uterus Syndrome

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

Pathways for Hand-Foot-Uterus Syndrome

Pathways related to Hand-Foot-Uterus Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.42 DLX5 DLX6

GO Terms for Hand-Foot-Uterus Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.1 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.85 DLX5 HOXA11 HOXA13 HOXD10 HOXD13
2 regulation of transcription, DNA-templated GO:0006355 9.8 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13
3 multicellular organism development GO:0007275 9.63 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13
4 transcription from RNA polymerase II promoter GO:0006366 9.56 DLX5 HOXD13
5 palate development GO:0060021 9.55 DLX5 DLX6
6 epithelial cell differentiation GO:0030855 9.54 DLX5 DLX6
7 single fertilization GO:0007338 9.52 HOXA11 HOXD10
8 positive regulation of epithelial cell proliferation GO:0050679 9.51 DLX5 DLX6
9 inner ear morphogenesis GO:0042472 9.49 DLX5 DLX6
10 embryonic digit morphogenesis GO:0042733 9.48 HOXA11 HOXD13
11 proximal/distal pattern formation GO:0009954 9.43 HOXA11 HOXD10
12 anterior/posterior pattern specification GO:0009952 9.43 HOXA11 HOXD10 HOXD13
13 anatomical structure formation involved in morphogenesis GO:0048646 9.4 DLX5 DLX6
14 head development GO:0060322 9.37 DLX5 DLX6
15 embryonic limb morphogenesis GO:0030326 9.35 DLX5 DLX6 HOXA11 HOXD10 HOXD13
16 skeletal system development GO:0001501 9.1 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.43 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13
2 sequence-specific DNA binding GO:0043565 9.1 DLX5 DLX6 HOXA11 HOXA13 HOXD10 HOXD13
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.85 HOXD13

Sources for Hand-Foot-Uterus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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