SHFM
MCID: SPL037
MIFTS: 35

Split Hand Foot Malformation (SHFM) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Split Hand Foot Malformation

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NIH Rare Diseases:42 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 syndactyly and split hand. An important gene associated with Split Hand Foot Malformation is TP63 (tumor protein p63). Affiliated tissues include bone and heart, and related mouse phenotypes are embryogenesis and limbs/digits/tail.

Aliases & Classifications for Split Hand Foot Malformation

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 62UMLS
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Split Hand Foot Malformation, Aliases & Descriptions:

Name: Split Hand Foot Malformation 42
Ectrodactyly 42 20 22 44 62
 
Split-Hand/foot Malformation 62
Shfm 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Related Diseases for Split Hand Foot Malformation

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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 2

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

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.0TP63, FBXW4
2split hand11.1
3ectodermal dysplasia10.8
4split hand foot malformation 110.7
5split-hand/foot malformation 510.7
6eec syndrome10.7
7split-hand/foot malformation, type 410.6
8split-hand/foot malformation 610.6
9split hand/foot malformation x-linked10.6
10tibial aplasia - ectrodactyly10.6
11cleft lip10.5
12split-hand/foot malformation 310.5
13split-hand/foot malformation with long bone deficiency 110.5
14split-hand/foot malformation with long bone deficiency 210.5
15split-hand/foot malformation 1 with sensorineural hearing loss10.5
16split-hand/foot malformation with long bone deficiency 310.5
17split hand/foot malformation 210.5
18cleft hand absent tibia10.4
19fibular aplasia ectrodactyly10.4
20mondini dysplasia10.4
21split-hand/foot malformation 3, gene duplication syndrome10.4
22eem syndrome10.4
23holoprosencephaly10.4
24femur bifid with monodactylous ectrodactyly10.3
25mental retardation spasticity ectrodactyly10.3
26phocomelia ectrodactyly deafness sinus arrhythmia10.3
27hartsfield syndrome10.3
28hypogonadotropism10.3
29tetralogy of fallot10.3
30sensorineural hearing loss10.3
31wolf-hirschhorn syndrome10.3
32hypogonadism10.3
33split hand split foot malformation autosomal recessive10.3
34mental retardation10.3
35ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.3
36cleft palate10.3
37ectrodactyly polydactyly10.3
38anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.2
39ectrodactyly cleft palate syndrome10.2
40microphthalmia10.2
41anonychia ectrodactyly10.2
42ectrodactyly cardiopathy dysmorphism10.2
43fibular aplasia10.2
44kasznica carlson coppedge syndrome10.2
45phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia10.2
46macular dystrophy10.2
47split foot10.2
48focal dermal hypoplasia10.1
49adult syndrome10.1
50microcephaly10.1

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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Drug clinical trials:

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Search 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 Ectrodactyly20 22 TP63

Anatomical Context for Split Hand Foot Malformation

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MalaCards organs/tissues related to Split Hand Foot Malformation:

32
Bone, Heart

Animal Models for Split Hand Foot Malformation or affiliated genes

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MGI Mouse Phenotypes related to Split Hand Foot Malformation:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1TP63, FBXW4
2MP:00053719.0TP63, FBXW4
3MP:00053908.8TP63, FBXW4

Publications for Split Hand Foot Malformation

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Articles related to Split Hand Foot Malformation:

(show all 45)
idTitleAuthorsYear
1
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. (24371113)
2014
2
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
3
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. (25196357)
2014
4
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. (25394172)
2014
5
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. (24211389)
2014
6
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. (24496061)
2014
7
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. (24973351)
2014
8
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). (23722700)
2013
9
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. (23736768)
2013
10
Split-hand/foot malformation - molecular cause and implications in genetic counseling. (24163146)
2013
11
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. (23202277)
2013
12
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. (24115638)
2013
13
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. (23790188)
2013
14
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. (23168687)
2013
15
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. (21554266)
2012
16
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. (22430731)
2012
17
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). (21629300)
2011
18
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. (20635353)
2010
19
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (22140379)
2010
20
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. (19584065)
2010
21
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (19401716)
2009
22
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. (19223930)
2009
23
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? (19353584)
2009
24
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
25
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. (18515319)
2008
26
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. (18493797)
2008
27
The association of split hand foot malformation (SHFM) and congenital heart defects. (18383509)
2008
28
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. (18792980)
2008
29
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (17569090)
2007
30
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
31
Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. (16838310)
2006
32
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. (16761290)
2006
33
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. (16688749)
2006
34
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. (16673359)
2006
35
The expanding panorama of split hand foot malformation. (16763964)
2006
36
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
37
Discrepancies in upper and lower limb patterning in split hand foot malformation. (16207208)
2005
38
Split hand foot malformation (SHFM). (16283879)
2005
39
Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. (15539951)
2004
40
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. (15121782)
2004
41
P63 mutations are not a major cause of non-syndromic split hand/foot malformation. (12525544)
2003
42
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. (12974740)
2003
43
Mouse model of split hand/foot malformation type I. (12112878)
2002
44
Split hand-foot malformation: a congenital central limb ray deficiency. (12432199)
2002
45
Bilateral split hand/foot malformation and inv(7)(p22q21.3). (7616545)
1995

Variations for Split Hand Foot Malformation

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Expression for genes affiliated with Split Hand Foot Malformation

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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

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Compounds for genes affiliated with Split Hand Foot Malformation

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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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryonic limb morphogenesisGO:0303269.1TP63, FBXW4
2positive regulation of mesenchymal cell proliferationGO:0020538.8TP63, FBXW4

Products for genes affiliated with Split Hand Foot Malformation

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Sources for Split Hand Foot Malformation

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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