MCID: SPL037
MIFTS: 32

Split Hand Foot Malformation malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Split Hand Foot Malformation

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Aliases & Descriptions for Split Hand Foot Malformation:

Name: Split Hand Foot Malformation 48
Ectrodactyly 48 24 50 68
Split-Hand/foot Malformation 68
Split Hand Foot Deformity 1 68
 
Split Hand Foot Deformity 68
Split Hand/split Foot 24
Shfm 48

Classifications:



Summaries for Split Hand Foot Malformation

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NIH Rare Diseases:48 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 with sensorineural hearing loss and split-hand/foot malformation 6. An important gene associated with Split Hand Foot Malformation is TP63 (Tumor Protein P63), and among its related pathways are TP53 network and Sumoylation by RanBP2 regulates transcriptional repression. Affiliated tissues include bone and heart, and related mouse phenotypes are craniofacial and 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 3
Split Hand Foot Malformation 1

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

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1split-hand/foot malformation 1 with sensorineural hearing loss12.6
2split-hand/foot malformation 612.5
3split-hand/foot malformation with long bone deficiency 312.5
4split-hand/foot malformation 412.5
5split-hand/foot malformation 312.5
6split-hand/foot malformation 512.4
7split hand foot malformation 112.4
8split-hand/foot malformation with long bone deficiency 112.3
9split-hand/foot malformation with long bone deficiency 212.2
10split hand/foot malformation x-linked12.2
11ectodermal dysplasia, ectrodactyly, and macular dystrophy12.2
12ectrodactyly with tibial hemimelia11.4
13split hand-split foot malformation11.3
14ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 311.2
15brachydactyly-ectrodactyly with fibular aplasia or hypoplasia11.2
16split hand10.7
17sonoda syndrome10.4FBXW4, SHFM3
18vlcad deficiency10.3BHLHA9, SHFLD3
19serous conjunctivitis except viral10.1BHLHA9, FBXW4, TP63
20hyperphalangy10.1DLX5, FBXW4, SHFM2, TP63
21hypogonadism10.0
22hypogonadotropism10.0
23mondini dysplasia10.0
24brachydactyly of toes10.0BHLHA9, DLX5, FBXW4, TP63, WNT10B
25hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome9.9DLX5, FBXW4, SHFM2, TP63, WNT10B
26glycogen storage disease ix9.9FGFR1, TP63, WNT10B
27wolf-hirschhorn syndrome9.9
28tetralogy of fallot9.9
29tibial hemimelia9.9
30sensorineural hearing loss9.9
31cerebral degeneration9.9
32cerebritis9.9
33cleft lip9.9
34cleft lip/palate9.9
35myocardium cancer9.4FGFR1, SUMO1, TP63
36ectrodactyly cardiopathy dysmorphism5.3BHLHA9, C7orf76, DLX5, FBXW4, FBXW4P1, FGFR1

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



Diseases related to split hand foot malformation

Symptoms & Phenotypes for Split Hand Foot Malformation

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MGI Mouse Phenotypes related to Split Hand Foot Malformation according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.8DLX5, FGFR1, GLI2, HAND2, SUMO1, TP63
2MP:00053719.6BHLHA9, DLX5, FBXW4, FGFR1, GLI2, HAND2
3MP:00030128.8FBXW4, FGFR1, GLI2, HAND2, TP63, UBE2I

Drugs & Therapeutics for Split Hand Foot Malformation

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63Not yet recruitingNCT02896387

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 Ectrodactyly24 TP63

Anatomical Context for Split Hand Foot Malformation

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MalaCards organs/tissues related to Split Hand Foot Malformation:

36
Bone, Heart

Publications for Split Hand Foot Malformation

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Articles related to Split Hand Foot Malformation:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region. (28087897)
2017
2
Split Hand / Foot Malformation Syndrome with Cerebral Degeneration. (27730782)
2016
3
Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report. (27022330)
2016
4
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development. (27821526)
2016
5
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. (27351625)
2016
6
A Novel Heterozygous Frameshift Mutation in DLX5 Gene Underlies Isolated Split Hand Foot Malformation type 1. (27085093)
2016
7
Phenotypic subregions within the split-hand/foot malformation 1 locus. (26839112)
2016
8
Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data. (27600068)
2015
9
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
10
Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization. (25675931)
2015
11
Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. (26477560)
2015
12
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. (24371113)
2014
13
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
14
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. (25196357)
2014
15
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. (25394172)
2014
16
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. (24211389)
2014
17
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. (24973351)
2014
18
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. (24496061)
2014
19
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. (23736768)
2013
20
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. (23202277)
2013
21
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. (23790188)
2013
22
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. (23168687)
2013
23
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). (23722700)
2013
24
Split-hand/foot malformation - molecular cause and implications in genetic counseling. (24163146)
2013
25
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. (24115638)
2013
26
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. (21554266)
2012
27
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. (22430731)
2012
28
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). (21629300)
2011
29
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. (20635353)
2010
30
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (22140379)
2010
31
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. (19584065)
2010
32
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? (19353584)
2009
33
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (19401716)
2009
34
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. (19223930)
2009
35
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. (18792980)
2008
36
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
37
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. (18515319)
2008
38
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. (18493797)
2008
39
The association of split hand foot malformation (SHFM) and congenital heart defects. (18383509)
2008
40
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (17569090)
2007
41
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
42
Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. (16838310)
2006
43
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. (16761290)
2006
44
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. (16688749)
2006
45
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. (16673359)
2006
46
The expanding panorama of split hand foot malformation. (16763964)
2006
47
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
48
Discrepancies in upper and lower limb patterning in split hand foot malformation. (16207208)
2005
49
Split hand foot malformation (SHFM). (16283879)
2005
50
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. (15121782)
2004

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
210.0SUMO1, UBE2I
39.8DLX5, FGFR1, WNT10B

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 13)
idNameGO IDScoreTop Affiliating Genes
1head developmentGO:006032210.7DLX5, GLI2
2prostatic bud formationGO:006051310.6GLI2, TP63
3proximal/distal pattern formationGO:000995410.6GLI2, TP63
4anatomical structure formation involved in morphogenesisGO:004864610.5DLX5, GLI2, TP63
5positive regulation of osteoblast differentiationGO:004566910.5DLX5, TP63, WNT10B
6odontogenesis of dentin-containing toothGO:004247510.4GLI2, HAND2, TP63
7embryonic digit morphogenesisGO:004273310.4FBXW4, GLI2, HAND2
8chondrocyte differentiationGO:000206210.4FGFR1, GLI2, WNT10B
9positive regulation of mesenchymal cell proliferationGO:000205310.4FBXW4, FGFR1, TP63
10palate developmentGO:006002110.4DLX5, HAND2, SUMO1
11embryonic limb morphogenesisGO:003032610.2DLX5, FBXW4, FGFR1, TP63
12sympathetic nervous system developmentGO:004848510.0HAND2, TP63
13skeletal system developmentGO:00015019.9DLX5, FGFR1, GLI2, TP63

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:004421210.2DLX5, GLI2, HAND2, TP63
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6DLX5, GLI2, HAND2, TP63

Sources for Split Hand Foot Malformation

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet