SHFM
MCID: SPL037
MIFTS: 33

Split Hand Foot Malformation (SHFM) malady

Summaries for Split Hand Foot Malformation

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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: Split Hand Foot Malformation, also known as ectrodactyly, is related to split-hand/foot malformation 6 and cleft palate. An important gene associated with Split Hand Foot Malformation is TP63 (tumor protein p63), and among its related pathways are TP53 network and Development Glucocorticoid receptor signaling. Affiliated tissues include heart.

Aliases & Classifications for Split Hand Foot Malformation

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 61UMLS
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Aliases & Descriptions:

split hand foot malformation 43
ectrodactyly 43 20 22 45 61
split-hand/foot malformation 61
shfm 43


Related Diseases for Split Hand Foot Malformation

Sources:
17GeneCards, 18GeneDecks
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Diseases in the split-hand/foot malformation 6 family:

split hand foot malformation split hand foot malformation 1
split-hand/foot malformation 3 split-hand/foot malformation 5
split-hand/foot malformation, type 4 split-hand/foot malformation 1 with sensorineural hearing loss
split hand/foot malformation 2

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

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1split-hand/foot malformation 631.0WNT10B
2cleft palate30.8TP63
3syndactyly29.9TP63, SHFM1, FBXW4
4rapp-hodgkin syndrome29.7TP63
5split foot11.1
6split hand11.1
7split hand foot malformation 110.8
8ectodermal dysplasia10.8
9split-hand/foot malformation 510.6
10split-hand/foot malformation, type 410.6
11split hand/foot malformation 210.6
12split hand/foot malformation x-linked10.6
13ectrodactyly cleft palate syndrome10.5
14split hand split foot malformation autosomal recessive10.5
15split-hand/foot malformation 310.5
16tibial aplasia - ectrodactyly10.5
17cleft hand absent tibia10.4
18fibular aplasia ectrodactyly10.4
19mondini dysplasia10.4
20split-hand/foot malformation with long bone deficiency 110.4
21split-hand/foot malformation with long bone deficiency 210.4
22split-hand/foot malformation 1 with sensorineural hearing loss10.4
23split-hand/foot malformation 3, gene duplication syndrome10.4
24split-hand/foot malformation with long bone deficiency 310.4
25holoprosencephaly10.3
26sensorineural hearing loss10.3
27wolf-hirschhorn syndrome10.3
28micro syndrome10.3
29wolf–hirschhorn syndrome10.3
30ectrodactyly with tibial hemimelia10.3
31mental retardation10.3
32ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.3
33limb transversal defect - cardiac anomaly10.3
34split hand, bilateral10.3
35split foot, bilateral10.3
36mental retardation spasticity ectrodactyly10.3
37eec syndrome10.3
38femur bifid with monodactylous ectrodactyly10.3
39hartsfield syndrome10.3
40phocomelia ectrodactyly deafness sinus arrhythmia10.2
41n syndrome10.2
42eem syndrome10.2
43ectrodactyly polydactyly10.2
44anonychia ectrodactyly10.2
45anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.2
46microphthalmia10.1
47ectrodactyly cardiopathy dysmorphism10.1
48phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia10.1
49fibular aplasia10.1
50macular dystrophy10.1

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



Diseases related to split hand foot malformation

Clinical Features for Split Hand Foot Malformation

Drugs & Therapeutics for Split Hand Foot Malformation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Split Hand Foot Malformation

Sources:
20GeneTests, 22GTR
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Genetic tests related to Split Hand Foot Malformation:

id Genetic test Affiliating Genes
1 Ectrodactyly20 22 TP63

Anatomical Context for Split Hand Foot Malformation

Sources:
33MalaCards
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MalaCards organs/tissues related to Split Hand Foot Malformation:

33
Heart

Animal Models for Split Hand Foot Malformation or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Split Hand Foot Malformation

Sources:
51PubMed
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Articles related to Split Hand Foot Malformation:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. (24371113)
2014
2
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. (24211389)
2014
3
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). (23722700)
2013
4
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. (23736768)
2013
5
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation. (23596994)
2013
6
Split-hand/foot malformation - molecular cause and implications in genetic counseling. (24163146)
2013
7
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. (23202277)
2013
8
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. (24115638)
2013
9
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. (23790188)
2013
10
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. (23168687)
2013
11
A 0.7a88Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. (23169702)
2012
12
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. (22121204)
2012
13
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. (21554266)
2012
14
A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. (21700002)
2011
15
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). (21629300)
2011
16
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (19401716)
2009
17
First-trimester diagnosis of familial split-hand/split-foot malformation. (19778890)
2009
18
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
19
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. (18493797)
2008
20
The association of split hand foot malformation (SHFM) and congenital heart defects. (18383509)
2008
21
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. (18792980)
2008
22
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (17569090)
2007
23
Genetic analysis of a Chinese pedigree with split hand and foot malformation]. (18067070)
2007
24
Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. (16838310)
2006
25
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. (16691619)
2006
26
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. (16673359)
2006
27
Split-hand/split-foot malformation associated with maternal valproate consumption. (16010085)
2005
28
Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. (16235095)
2005
29
Split hand foot malformation (SHFM). (16283879)
2005
30
Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. (15539951)
2004
31
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. (15121782)
2004
32
Pathogenesis of split-hand/split-foot malformation. (12668597)
2003
33
P63 mutations are not a major cause of non-syndromic split hand/foot malformation. (12525544)
2003
34
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. (12974740)
2003
35
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (12913067)
2003
36
Split hand and foot malformation: ultrasound detection in the first trimester. (12423492)
2002
37
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. (12072797)
2002
38
Mouse model of split hand/foot malformation type I. (12112878)
2002
39
Split hand-foot malformation: a congenital central limb ray deficiency. (12432199)
2002
40
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. (11424924)
2001
41
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
2001
42
Split-hand/split-foot malformation with paternal mutation in the p63 gene. (11787035)
2001
43
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (10839977)
2000
44
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. (8733122)
1996
45
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. (8782053)
1996
46
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. (9004130)
1996
47
Bilateral split hand/foot malformation and inv(7)(p22q21.3). (7616545)
1995
48
Heterogeneity of the autosomal dominant split hand/split foot malformation. (7825599)
1995
49
On the inheritance of the split hand/split foot malformation. (7802032)
1994
50
Is there an autosomal recessive form of the split hand and split foot malformation? (2918544)
1989

Genetic Variations for Split Hand Foot Malformation

Expression for genes affiliated with Split Hand Foot Malformation

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Split Hand Foot Malformation

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Pathways for genes affiliated with Split Hand Foot Malformation

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome
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Compounds for genes affiliated with Split Hand Foot Malformation

GO Terms for genes affiliated with Split Hand Foot Malformation

Sources:
16Gene Ontology
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Cellular components related to Split Hand Foot Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendriteGO:0304259.6TP63, SUMO1, UBE2I
2nuclear chromatinGO:0007909.4TP63, DLX5, HAND2

Biological processes related to Split Hand Foot Malformation according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of mesenchymal cell proliferationGO:00205310.0FBXW4, TP63
2sympathetic nervous system developmentGO:04848510.0HAND2, TP63
3embryonic limb morphogenesisGO:0303269.9DLX5, FBXW4, TP63
4positive regulation of osteoblast differentiationGO:0456699.8TP63, DLX5, WNT10B
5negative regulation of DNA bindingGO:0433929.8HAND2, SUMO1
6palate developmentGO:0600219.7SUMO1, DLX5, HAND2
7protein sumoylationGO:0169259.6UBE2I, SUMO1

Molecular functions related to Split Hand Foot Malformation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.7TP63, DLX5, HAND2
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.6TP63, DLX5, HAND2
3SUMO ligase activityGO:0197899.6SUMO1, UBE2I

Products for genes affiliated with Split Hand Foot Malformation

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Sources for Split Hand Foot Malformation

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet