MCID: SPL037
MIFTS: 35

Split Hand Foot Malformation malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Split Hand Foot Malformation

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Sources:
45NIH Rare Diseases, 22GeneTests, 47Novoseek, 24GTR, 65UMLS
See all sources

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
Absent Finger 65
Shfm 45


Classifications:



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 rapp-hodgkin syndrome and split hand foot malformation 1. 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 and heart, 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 top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1rapp-hodgkin syndrome30.0DLX5, SHFM1, TP63
2split hand foot malformation 127.7BHLHA9, DLX5, FBXW4, FBXW4P1, GLI2, HAND2
3split hand11.1
4ectodermal dysplasia10.9
5split-hand/foot malformation 1 with sensorineural hearing loss10.8
6split-hand/foot malformation 410.8
7split-hand/foot malformation 610.8
8split-hand/foot malformation with long bone deficiency 310.8
9split-hand/foot malformation 510.7
10eec syndrome10.7
11split-hand/foot malformation with long bone deficiency 110.7
12split-hand/foot malformation 310.7
13split-hand/foot malformation with long bone deficiency 210.6
14split hand/foot malformation x-linked10.6
15cleft lip10.6
16split hand - split foot - deafness10.6
17ectrodactyly with tibial hemimelia10.5
18ectodermal dysplasia, ectrodactyly, and macular dystrophy10.5
19mondini dysplasia10.4
20hartsfield syndrome10.4
21holoprosencephaly10.4
22femur bifid with monodactylous ectrodactyly10.4
23fibular aplasia ectrodactyly10.4
24mental retardation spasticity ectrodactyly10.4
25neural tube defects10.3
26ladd syndrome10.3
27amelogenesis imperfecta10.3
28coloboma10.3
29choroiditis10.3
30buphthalmos10.3
31hypospadias10.3
32cervicitis10.3
33urinary tract obstruction10.3
34acrorenal mandibular syndrome10.3
35intellectual disability10.3
36acro-renal-mandibular syndrome10.3
37phocomelia ectrodactyly deafness sinus arrhythmia10.3
38anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.3
39ectrodactyly polydactyly10.3
40ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.3
41wolf-hirschhorn syndrome10.3
42tetralogy of fallot10.3
43tibial hemimelia10.3
44sensorineural hearing loss10.3
45hypogonadotropism10.3
46hypogonadism10.3
47split hand split foot malformation autosomal recessive10.3
48split hand-split foot malformation10.3
49microphthalmia, syndromic 810.3
50anonychia ectrodactyly10.3

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 24 TP63

Anatomical Context for Split Hand Foot Malformation

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MalaCards organs/tissues related to Split Hand Foot Malformation:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3DLX5, FBXW4, GLI2, HAND2, TP63

Publications for Split Hand Foot Malformation

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Articles related to Split Hand Foot Malformation:

(show all 48)
idTitleAuthorsYear
1
Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective. (26477560)
2015
2
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
3
Split hand/foot malformations with microdeletions at chromosomes 7 and 19 detected using array comparative genomic hybridization. (25675931)
2015
4
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. (24371113)
2014
5
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
6
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. (25196357)
2014
7
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. (25394172)
2014
8
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. (24211389)
2014
9
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. (24496061)
2014
10
Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. (24973351)
2014
11
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). (23722700)
2013
12
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. (23736768)
2013
13
Split-hand/foot malformation - molecular cause and implications in genetic counseling. (24163146)
2013
14
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. (23202277)
2013
15
Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. (24115638)
2013
16
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. (23790188)
2013
17
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. (23168687)
2013
18
A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. (21554266)
2012
19
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation. (22430731)
2012
20
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). (21629300)
2011
21
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. (20635353)
2010
22
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (22140379)
2010
23
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. (19584065)
2010
24
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (19401716)
2009
25
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. (19223930)
2009
26
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? (19353584)
2009
27
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
28
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. (18515319)
2008
29
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. (18493797)
2008
30
The association of split hand foot malformation (SHFM) and congenital heart defects. (18383509)
2008
31
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. (18792980)
2008
32
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. (17569090)
2007
33
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
34
Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3. (16838310)
2006
35
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. (16761290)
2006
36
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. (16688749)
2006
37
Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. (16673359)
2006
38
The expanding panorama of split hand foot malformation. (16763964)
2006
39
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
40
Discrepancies in upper and lower limb patterning in split hand foot malformation. (16207208)
2005
41
Split hand foot malformation (SHFM). (16283879)
2005
42
Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. (15539951)
2004
43
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. (15121782)
2004
44
P63 mutations are not a major cause of non-syndromic split hand/foot malformation. (12525544)
2003
45
Split hand foot malformation is associated with a reduced level of Dactylin gene expression. (12974740)
2003
46
Mouse model of split hand/foot malformation type I. (12112878)
2002
47
Split hand-foot malformation: a congenital central limb ray deficiency. (12432199)
2002
48
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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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 pathways (with members indented)ScoreTop 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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Cellular components related to Split Hand Foot Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromatinGO:00007909.8DLX5, HAND2, TP63

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1prostatic bud formationGO:006051310.6GLI2, TP63
2positive regulation of mesenchymal cell proliferationGO:000205310.5FBXW4, TP63
3sympathetic nervous system developmentGO:004848510.5HAND2, TP63
4head developmentGO:006032210.5DLX5, GLI2
5anatomical structure formation involved in morphogenesisGO:004864610.2DLX5, GLI2, TP63
6negative regulation of DNA bindingGO:004339210.1HAND2, SUMO1
7proximal/distal pattern formationGO:000995410.1GLI2, TP63
8embryonic limb morphogenesisGO:003032610.0DLX5, FBXW4, TP63
9embryonic digit morphogenesisGO:004273310.0FBXW4, GLI2, HAND2
10odontogenesis of dentin-containing toothGO:00424759.8GLI2, HAND2, TP63
11skeletal system developmentGO:00015019.8DLX5, GLI2, TP63
12double-strand break repair via homologous recombinationGO:00007249.6SHFM1, SUMO1, UBE2I
13palate developmentGO:00600219.4DLX5, HAND2, SUMO1

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

idNameGO IDScoreTop Affiliating Genes
1SUMO transferase activityGO:001978910.2SUMO1, UBE2I
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6DLX5, GLI2, HAND2, TP63
3transcription regulatory region DNA bindingGO:00442129.5DLX5, 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