HFGS
MCID: HND004
MIFTS: 23

Hand-Foot-Genital Syndrome (HFGS) malady

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Summaries for Hand-Foot-Genital Syndrome

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MalaCards based summary: Hand-Foot-Genital Syndrome, also known as hand foot uterus syndrome, is related to hand foot uterus syndrome and hypospadias. An important gene associated with Hand-Foot-Genital Syndrome is HOXA13 (homeobox A13). The compound alanine have been mentioned in the context of this disorder. Affiliated tissues include uterus, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

GeneReviews summary for hfg

Aliases & Classifications for Hand-Foot-Genital Syndrome

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Hand-Foot-Genital Syndrome, Aliases & Descriptions:

Name: Hand-Foot-Genital Syndrome 19 62
Hand Foot Uterus Syndrome 62
 
Hfg Syndrome 19
Hfgs 19


Related Diseases for Hand-Foot-Genital Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1hand foot uterus syndrome30.9HOXD13, HOXA13
2hypospadias30.1HOXD13, HOXA13
3rheumatoid arthritis9.9HSP90AA1, HOXD13
4polydactyly9.7HOXA13, HOXD13

Symptoms for Hand-Foot-Genital Syndrome

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Drugs & Therapeutics for Hand-Foot-Genital Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Hand-Foot-Genital Syndrome

Genetic Tests for Hand-Foot-Genital Syndrome

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Anatomical Context for Hand-Foot-Genital Syndrome

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

32
Uterus

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0HOXD13, HOXA13
2MP:00053798.5HSP90AA1, HOXD13, HOXA13
3MP:00053898.4HOXA13, HOXD13, HSP90AA1
4MP:00107688.2HSP90AA1, HOXD13, HOXA13

Publications for Hand-Foot-Genital Syndrome

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Articles related to Hand-Foot-Genital Syndrome:

(show all 16)
idTitleAuthorsYear
1
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. (24934387)
2014
2
Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome. (22631585)
2012
3
Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome. (21549968)
2011
4
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
5
Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. (17935235)
2007
6
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome. (12676922)
2003
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? (12073020)
2002
8
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot- genital syndrome. (10839976)
2000
9
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. (10364539)
1999
10
Mutation of HOXA13 in hand-foot-genital syndrome. (9020844)
1997
11
Hand-Foot-Genital Syndrome (20301596)
1993
12
The hand-foot-genital syndrome: on the variable expression in affected males. (8375102)
1993
13
Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation. (1442892)
1992
14
Hand-foot-genital syndrome: the importance of hallux varus. (2349017)
1990
15
Urinary tract abnormalities in hand-foot-genital syndrome. (2774004)
1989
16
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

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

6
id Gene Name Type Significance SNP ID Assembly Location
1HOXA13NM_000522.4(HOXA13): c.1107G> A (p.Trp369Ter)single nucleotide variantPathogenicrs104894019GRCh37Chr 7, 27237877: 27237877
2HOXA13NM_000522.4(HOXA13): c.1114A> C (p.Asn372His)single nucleotide variantPathogenicrs121912542GRCh37Chr 7, 27237870: 27237870
3HOXA13NM_000522.4(HOXA13): c.355_406dup52 (p.Ser136Cysfs)duplicationPathogenicrs387906542GRCh37Chr 7, 27239290: 27239291

Expression for genes affiliated with Hand-Foot-Genital Syndrome

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Expression patterns in normal tissues for genes affiliated with Hand-Foot-Genital Syndrome

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Pathways for genes affiliated with Hand-Foot-Genital Syndrome

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Compounds for genes affiliated with Hand-Foot-Genital Syndrome

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Sources:
44Novoseek
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Compounds related to Hand-Foot-Genital Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alanine448.5HSP90AA1, HOXD13, HOXA13

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

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Cellular components related to Hand-Foot-Genital Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.5HSP90AA1, HOXD13, HOXA13

Biological processes related to Hand-Foot-Genital Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:0459449.0HOXD13, HOXA13
2male genitalia developmentGO:0305398.9HOXD13, HOXA13
3skeletal system developmentGO:0015018.7HOXD13, HOXA13

Molecular functions related to Hand-Foot-Genital Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.0HOXD13, HOXA13
2sequence-specific DNA bindingGO:0435658.7HOXD13, HOXA13

Products for genes affiliated with Hand-Foot-Genital Syndrome

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Sources for Hand-Foot-Genital Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet