Hand-Foot-Uterus Syndrome malady

Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Hand-Foot-Uterus Syndrome

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49OMIM, 11diseasecard, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 21GeneReviews, 47Novoseek, 45NIH Rare Diseases, 22GeneTests, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Hand-Foot-Uterus Syndrome:

Name: Hand-Foot-Uterus Syndrome 49 11 23 51 67
Hand-Foot-Genital Syndrome 21 23 47 51 67
Hfg Syndrome 21 45 22 23 67
Hand Foot Uterus Syndrome 45 22 24 65
Hfgs 21 45 23 51
Hfu Syndrome 45 23 67
Hand Foot Genital Syndrome 45 22
Hfu 67
Hfg 67


Characteristics (Orphanet epidemiological data):

hand-foot-genital syndrome:
Inheritance: Autosomal dominant

External Ids:

OMIM49 140000
Orphanet51 2438
ICD10 via Orphanet28 Q51.2
UMLS via Orphanet66 C1841679
MedGen34 C1841679

Summaries for Hand-Foot-Uterus Syndrome

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Genetics Home Reference:23 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-Uterus Syndrome, also known as hand-foot-genital syndrome, is related to guttmacher syndrome and hypospadias, and has symptoms including abnormality of female internal genitalia, abnormality of the metacarpal bones and synostosis of carpal bones. An important gene associated with Hand-Foot-Uterus Syndrome is HOXA13 (Homeobox A13). Affiliated tissues include uterus and bone, and related mouse phenotype limbs/digits/tail.

UniProtKB/Swiss-Prot:67 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.

Description from OMIM:49 140000

GeneReviews summary for hfg

Related Diseases for Hand-Foot-Uterus Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1guttmacher syndrome30.3HOXA13, HOXD13
3nephrogenic adenoma9.8HOXA13, HOXD13
4tryptophan hydroxylase deficiency9.8HOXA13, HOXD13
5specific language impairment9.7HOXA13, HOXD13

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

Diseases related to hand-foot-uterus syndrome

Symptoms for Hand-Foot-Uterus Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 51 (show all 24)
  • carpal bones fusion/synostosis
  • metacarpal anomalies/archibald's sign
  • terminal/third phalangeal bone of fingers hypoplasia
  • thumb hypoplasia/aplasia/absence
  • tarsal anomaly/fusion/synostosis
  • short big toe
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • uterine/uterus/fallopian tubes anomalies
  • autosomal dominant inheritance
  • abnormal dermatoglyphics
  • flat palm
  • clinodactyly of fifth finger
  • short foot/brachydactyly of toes
  • absent/small toenails/anonychia of feet
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • vesicorenal/vesicoureteral reflux
  • recurrent urinary infections
  • hypospadias/epispadias/bent penis
  • strabismus/squint
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • sacral sinus/dimple
  • postaxial polydactyly (hand)
  • ventricular septal defect/interventricular communication
  • spontaneous abortions

HPO human phenotypes related to Hand-Foot-Uterus Syndrome:

(show all 43)
id Description Frequency HPO Source Accession
1 abnormality of female internal genitalia hallmark (90%) HP:0000008
2 abnormality of the metacarpal bones hallmark (90%) HP:0001163
3 synostosis of carpal bones hallmark (90%) HP:0005048
4 tarsal synostosis hallmark (90%) HP:0008368
5 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
6 short distal phalanx of finger hallmark (90%) HP:0009882
7 short hallux hallmark (90%) HP:0010109
8 recurrent urinary tract infections typical (50%) HP:0000010
9 vesicoureteral reflux typical (50%) HP:0000076
10 clinodactyly of the 5th finger typical (50%) HP:0004209
11 abnormal dermatoglyphics typical (50%) HP:0007477
12 aplastic/hypoplastic toenail typical (50%) HP:0010624
13 displacement of the external urethral meatus typical (50%) HP:0100627
14 abnormality of the outer ear occasional (7.5%) HP:0000356
15 strabismus occasional (7.5%) HP:0000486
16 sacral dimple occasional (7.5%) HP:0000960
17 postaxial hand polydactyly occasional (7.5%) HP:0001162
18 ventricular septal defect occasional (7.5%) HP:0001629
19 spontaneous abortion occasional (7.5%) HP:0005268
20 autosomal dominant inheritance HP:0000006
21 chordee HP:0000041
22 hypospadias HP:0000047
23 bifid scrotum HP:0000048
24 micropenis HP:0000054
25 ureteropelvic junction obstruction HP:0000074
26 vesicoureteral reflux HP:0000076
27 renal insufficiency HP:0000083
28 delayed ossification of carpal bones HP:0001216
29 small thenar eminence HP:0001245
30 short 2nd toe HP:0001885
31 uterus didelphys HP:0003762
32 clinodactyly of the 5th finger HP:0004209
33 shortening of all middle phalanges of the fingers HP:0006110
34 hallux varus HP:0008080
35 delayed tarsal ossification HP:0008103
36 longitudinal vaginal septum HP:0008740
37 short 5th finger HP:0009237
38 ulnar deviation of the 2nd finger HP:0009464
39 proximal placement of thumb HP:0009623
40 short 1st metacarpal HP:0010034
41 short first metatarsal HP:0010105
42 short hallux HP:0010109
43 pseudoepiphyses HP:0010584

Drugs & Therapeutics for Hand-Foot-Uterus Syndrome

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Interventional clinical trials:

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

Genetic Tests for Hand-Foot-Uterus Syndrome

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Genetic tests related to Hand-Foot-Uterus Syndrome:

id Genetic test Affiliating Genes
1 Hand-Foot-Genital Syndrome22 HOXA13
2 Hand Foot Uterus Syndrome24

Anatomical Context for Hand-Foot-Uterus Syndrome

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

Uterus, Bone

Animal Models for Hand-Foot-Uterus Syndrome or affiliated genes

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

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1HOXA13, HOXD13

Publications for Hand-Foot-Uterus Syndrome

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Articles related to Hand-Foot-Uterus Syndrome:

The hand-foot-genital (hand-foot-uterus) syndrome: family report and update. (3189398)
The hand-foot-uterus syndrome: a case study. (3772265)
Radiographic findings in the hand-foot-uterus syndrome (HFUS). (5417032)
Hand-foot-uterus syndrome. (4179869)

Variations for Hand-Foot-Uterus Syndrome

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Hand-Foot-Uterus Syndrome:

id Gene Variation Type Significance SNP ID Assembly Location
1HOXA13NM_000522.4(HOXA13): c.1107G> A (p.Trp369Ter)single nucleotide variantPathogenicrs104894019GRCh37Chr 7, 27237877: 27237877
2HOXA13HOXA13, 407A-Csingle nucleotide variantPathogenic
3HOXA13HOXA13, 24-BP INS, 8-ALA EXPinsertionPathogenic
4HOXA13NM_000522.4(HOXA13): c.1114A> C (p.Asn372His)single nucleotide variantPathogenicrs121912542GRCh37Chr 7, 27237870: 27237870
5HOXA13HOXA13, 18-BP INS, 6-ALA EXPinsertionPathogenic
6HOXA13HOXA13, 27-BP INS, 9-ALA EXPinsertionPathogenic
7HOXA13NM_000522.4(HOXA13): c.355_406dup52 (p.Ser136Cysfs)duplicationPathogenicrs387906542GRCh37Chr 7, 27239291: 27239342

Expression for genes affiliated with Hand-Foot-Uterus Syndrome

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

Pathways for genes affiliated with Hand-Foot-Uterus Syndrome

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GO Terms for genes affiliated with Hand-Foot-Uterus Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1male genitalia developmentGO:00305399.2HOXA13, HOXD13
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.1HOXA13, HOXD13
3skeletal system developmentGO:00015018.8HOXA13, HOXD13

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.1HOXA13, HOXD13
2transcription factor activity, sequence-specific DNA bindingGO:00037008.8HOXA13, HOXD13

Sources for Hand-Foot-Uterus Syndrome

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet