MCID: SPL037
MIFTS: 38

Split Hand Foot Malformation malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Split Hand Foot Malformation

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Aliases & Descriptions for Split Hand Foot Malformation:

Name: Split Hand Foot Malformation 45
Ectrodactyly 45 22 47 24 65
Split-Hand/foot Malformation 65
Split Hand Foot Deformity 1 65
 
Split Hand Foot Deformity 65
Split Hand/split Foot 22
Shfm 45

Classifications:



External Ids:

UMLS65 C2699510, C2931018, C0265554 C2931019, more

Summaries for Split Hand Foot Malformation

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NIH Rare Diseases:45 Split hand foot malformation (shfm) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. the severity of this condition varies widely among affected individuals. shfm is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. shfm may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. at least six different forms of isolated shfm have been described. each type is associated with a different underlying genetic cause. shfm1 has been linked to chromosome 7, and shfm2 is linked to the x chromosome. shfm3 is caused by a duplication of chromosome 10 at position 10q24. changes (mutations) in the tp63 gene cause shfm4. shfm5 is linked to chromosome 2, and shfm6 is caused by mutations in the wnt10b gene. shfm may be inherited in an autosomal dominant, autosomal recessive, or x-linked manner. last updated: 1/22/2014

MalaCards based summary: Split Hand Foot Malformation, also known as ectrodactyly, is related to split hand foot malformation 1 and split hand split foot nystagmus. An important gene associated with Split Hand Foot Malformation is TP63 (Tumor Protein P63), and among its related pathways are TP53 network and Signaling events mediated by HDAC Class II. Affiliated tissues include bone, placenta and prostate, and related mouse phenotype limbs/digits/tail.

Related Diseases for Split Hand Foot Malformation

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Diseases in the Split Hand Foot Malformation family:

Split-Hand/foot Malformation 5 Split-Hand/foot Malformation 4
Split-Hand/foot Malformation 6 Split Hand Foot Malformation 1
Split-Hand/foot Malformation 3

Diseases related to Split Hand Foot Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1split hand foot malformation 125.6BHLHA9, C7orf76, DLX5, FBXW4, FBXW4P1, GLI2
2split hand split foot nystagmus12.6
3split-hand/foot malformation 1 with sensorineural hearing loss12.6
4split-hand/foot malformation 612.6
5split-hand/foot malformation 412.6
6split-hand/foot malformation 512.5
7split-hand/foot malformation with long bone deficiency 312.5
8split-hand/foot malformation 312.5
9split hand/foot malformation x-linked12.5
10split-hand/foot malformation with long bone deficiency 112.4
11split-hand/foot malformation with long bone deficiency 212.3
12ectodermal dysplasia, ectrodactyly, and macular dystrophy12.2
13ectrodactyly with tibial hemimelia11.6
14split hand-split foot malformation11.4
15split hand10.8
16hypotrichosis 710.2DLX5, SHFM1, TP63
17acute laryngopharyngitis10.2BHLHA9, FBXW4, TP63
18trismus-pseudocamptodactyly syndrome10.2BHLHA9, SHFLD3
19ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.2
20eec syndrome10.2
21split hand split foot malformation autosomal recessive10.2
22mondini dysplasia10.1
23spondylocostal dysostosis 5, autosomal dominant10.0FBXW4, SHFM3
24wolf-hirschhorn syndrome10.0
25tetralogy of fallot10.0
26tibial hemimelia10.0
27sensorineural hearing loss10.0
28hypogonadism10.0
29hypogonadotropism10.0
30central polydactyly of fingers9.7BHLHA9, DLX5, FBXW4, SHFM1, TP63, WNT10B
31congenital absence/hypoplasia of fingers excluding thumb9.6DLX5, FBXW4, SHFM1, SHFM1P1, SHFM2, TP63
32de novo thrombotic microangiopathy after kidney transplantation9.6DLX5, FBXW4, SHFM1, SHFM2, TP63, WNT10B

Graphical network of the top 20 diseases related to Split Hand Foot Malformation:



Diseases related to split hand foot malformation

Symptoms for Split Hand Foot Malformation

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Drugs & Therapeutics for Split Hand Foot Malformation

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Split Hand Foot Malformation

Genetic Tests for Split Hand Foot Malformation

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Genetic tests related to Split Hand Foot Malformation:

id Genetic test Affiliating Genes
1 Ectrodactyly22 TP63

Anatomical Context for Split Hand Foot Malformation

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MalaCards organs/tissues related to Split Hand Foot Malformation:

33
Bone, Placenta, Prostate, Pons, Endothelial, B cells, Testes

Animal Models for Split Hand Foot Malformation or affiliated genes

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MGI Mouse Phenotypes related to Split Hand Foot Malformation:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1BHLHA9, DLX5, FBXW4, GLI2, HAND2, TP63

Publications for Split Hand Foot Malformation

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Articles related to Split Hand Foot Malformation:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
A Novel Heterozygous Frameshift Mutation in DLX5 Gene Underlies Isolated Split Hand Foot Malformation type 1. (27085093)
2016
2
Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report. (27022330)
2016
3
Phenotypic subregions within the split-hand/foot malformation 1 locus. (26839112)
2016
4
Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. (26477560)
2015
5
Array comparative genomic hybridization characterization of multiple interstitial deletions involving 7p22.1, 7q11.23, 7q21.3-q22.1, 19p13.3-p12, and 19q13.11-q13.43 in a fetus associated with split hand-foot malformation. Role of EPS15L1 in pathogenesis. (26384072)
2015
6
Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization. (25675931)
2015
7
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. (24371113)
2014
8
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. (25351291)
2014
9
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. (25196357)
2014
10
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. (25394172)
2014
11
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. (24211389)
2014
12
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. (24496061)
2014
13
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. (24973351)
2014
14
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). (23722700)
2013
15
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. (23736768)
2013
16
Split-hand/foot malformation - molecular cause and implications in genetic counseling. (24163146)
2013
17
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. (23202277)
2013
18
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. (24115638)
2013
19
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. (23790188)
2013
20
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. (21554266)
2012
21
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. (22430731)
2012
22
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). (21629300)
2011
23
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. (20635353)
2010
24
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (22140379)
2010
25
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (19401716)
2009
26
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. (19223930)
2009
27
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? (19353584)
2009
28
Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter). (18395879)
2008
29
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. (18515319)
2008
30
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. (18493797)
2008
31
The association of split hand foot malformation (SHFM) and congenital heart defects. (18383509)
2008
32
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. (18792980)
2008
33
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (17569090)
2007
34
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. (17160898)
2007
35
Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. (16838310)
2006
36
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. (16761290)
2006
37
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. (16688749)
2006
38
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. (16673359)
2006
39
The expanding panorama of split hand foot malformation. (16763964)
2006
40
Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus. (15662696)
2005
41
Discrepancies in upper and lower limb patterning in split hand foot malformation. (16207208)
2005
42
Split hand foot malformation (SHFM). (16283879)
2005
43
Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. (15539951)
2004
44
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. (15121782)
2004
45
P63 mutations are not a major cause of non-syndromic split hand/foot malformation. (12525544)
2003
46
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. (12974740)
2003
47
Mouse model of split hand/foot malformation type I. (12112878)
2002
48
Split hand-foot malformation: a congenital central limb ray deficiency. (12432199)
2002
49
Bilateral split hand/foot malformation and inv(7)(p22q21.3). (7616545)
1995
50

Variations for Split Hand Foot Malformation

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Expression for genes affiliated with Split Hand Foot Malformation

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Search GEO for disease gene expression data for Split Hand Foot Malformation.

Pathways for genes affiliated with Split Hand Foot Malformation

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Pathways related to Split Hand Foot Malformation according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0SUMO1, TP63
29.9SUMO1, UBE2I
3
Show member pathways
9.9SUMO1, UBE2I

GO Terms for genes affiliated with Split Hand Foot Malformation

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Biological processes related to Split Hand Foot Malformation according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1prostatic bud formationGO:006051310.6GLI2, TP63
2embryonic digit morphogenesisGO:004273310.0FBXW4, GLI2, HAND2
3proximal/distal pattern formationGO:000995410.0GLI2, TP63
4embryonic limb morphogenesisGO:00303269.8DLX5, FBXW4, TP63
5anatomical structure formation involved in morphogenesisGO:00486469.8DLX5, TP63
6odontogenesis of dentin-containing toothGO:00424759.8GLI2, HAND2, TP63
7positive regulation of transcription, DNA-templatedGO:00458939.7DLX5, GLI2, HAND2, TP63

Sources for Split Hand Foot Malformation

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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