MCID: HND003
MIFTS: 35

Hand-Foot-Uterus Syndrome malady

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

Aliases & Classifications for Hand-Foot-Uterus Syndrome

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Aliases & Descriptions for Hand-Foot-Uterus Syndrome:

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

Characteristics:

Orphanet epidemiological data:

51
hand-foot-genital syndrome:
Inheritance: Autosomal dominant

HPO:

61
hand-foot-uterus syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 140000
Orphanet51 2438
ICD10 via Orphanet28 Q51.2
UMLS via Orphanet66 C1841679
MedGen34 C1841679
UMLS65 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 breast cancer, and has symptoms including short hallux, short distal phalanx of finger and aplasia/hypoplasia of the thumb. An important gene associated with Hand-Foot-Uterus Syndrome is HOXA13 (Homeobox A13). Affiliated tissues include uterus, bone and testes, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

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 NBK1423

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 syndrome30.7HOXA13, HOXD13
2breast cancer10.4
3endotheliitis10.4
4microcephaly9.7HOXA13, HOXD13
5tryptophan hydroxylase deficiency9.6HOXA13, HOXD13
6stuttering9.5HOXA13, 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:

140000

Clinical features from OMIM:

140000

Symptoms:

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

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

Anatomical Context for Hand-Foot-Uterus Syndrome

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

33
Uterus, Bone, Testes

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.6HOXA13, HOXD13
2MP:00053679.5HOXA13, HOXD13

Publications for Hand-Foot-Uterus Syndrome

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Articles related to Hand-Foot-Uterus Syndrome:

idTitleAuthorsYear
1
A simple gene test for lactose intolerance/adult hypolactasia. (18264193)
2007
2
Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3. (15890703)
2005
3
Bax protein expression in the carcinogenesis of human oral mucosa]. (12539337)
2000
4
An approach to diagnosis of orbital disease. (6871787)
1983

Variations for Hand-Foot-Uterus Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1HOXA13p.Asn372HisVAR_017776
2HOXA13p.Ile368PheVAR_075341
3HOXA13p.Val375PheVAR_075342

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

5
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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Sources for Hand-Foot-Uterus Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet