SHFM
MCID: SPL037
MIFTS: 25

Split Hand Foot Malformation (SHFM) malady

Summaries for Split Hand Foot Malformation

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42NIH Rare Diseases, 32MalaCards
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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: 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.

Aliases & Classifications for Split Hand Foot Malformation

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42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 60UMLS
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Aliases & Descriptions:

split hand foot malformation 42
ectrodactyly 42 20 22 44 60
split-hand/foot malformation 60
shfm 42


Related Diseases for Split Hand Foot Malformation

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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 2

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1split-hand/foot malformation 630.8WNT10B
2cleft palate30.8TP63
3syndactyly29.9TP63, SHFM1, FBXW4
4split hand foot malformation 110.6
5split-hand/foot malformation 510.6
6split-hand/foot malformation, type 410.6
7split hand/foot malformation x-linked10.5
8cleft lip10.5
9split-hand/foot malformation 310.5
10split hand/foot malformation 210.5
11tibial aplasia - ectrodactyly10.5
12cleft hand absent tibia10.4
13fibular aplasia ectrodactyly10.4
14split-hand/foot malformation with long bone deficiency 110.4
15split-hand/foot malformation with long bone deficiency 210.4
16split-hand/foot malformation 1 with sensorineural hearing loss10.4
17split-hand/foot malformation 3, gene duplication syndrome10.4
18split-hand/foot malformation with long bone deficiency 310.4
19holoprosencephaly10.3
20mental retardation spasticity ectrodactyly10.3
21eec syndrome10.3
22femur bifid with monodactylous ectrodactyly10.3
23phocomelia ectrodactyly deafness sinus arrhythmia10.2
24sensorineural hearing loss10.2
25wolf-hirschhorn syndrome10.2
26tetralogy of fallot10.2
27congenital heart defect10.2
28split hand split foot malformation autosomal recessive10.2
29ectrodactyly with tibial hemimelia10.2
30ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.2
31eem syndrome10.2
32ectrodactyly polydactyly10.2
33anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.2
34hartsfield syndrome10.2
35microphthalmia10.1
36anonychia ectrodactyly10.1
37ectrodactyly cardiopathy dysmorphism10.1
38phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia10.1
39intellectual deficit - spasticity - ectrodactyly10.1
40microcephaly10.1
41focal dermal hypoplasia10.1
42adult syndrome10.1
43cleft palate cardiac defect ectrodactyly10.1
44ectrodactyly cleft palate syndrome10.1
45ectrodactyly and ectodermal dysplasia without cleft lip/palate10.1
46kasznica carlson coppedge syndrome10.1
47holoprosencephaly ectrodactyly cleft lip palate10.1
48hydrops ectrodactyly syndactyly10.1
49microphthalmia syndromic 810.1
50short stature monodactylous ectrodactyly cleft palate10.1

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

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Drugs & Therapeutics for Split Hand Foot Malformation

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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Animal Models for Split Hand Foot Malformation or affiliated genes

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Publications for Split Hand Foot Malformation

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Genetic Variations for Split Hand Foot Malformation

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Expression for genes affiliated with Split Hand Foot Malformation

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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

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37NCBI BioSystems Database, 12EMD Millipore, 53Reactome
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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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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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet