MCID: SPL040
MIFTS: 33

Split Hand malady

Bone, Fetal categories

Summaries for Split Hand

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64Wikipedia, 33MalaCards
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Wikipedia:64 Ectrodactyly, split hand, cleft hand or lobster claw hand involves the deficiency or absence of one or... more...

MalaCards: Split Hand is related to split-hand/foot malformation 6 and syndactyly. An important gene associated with Split Hand is SHFM1 (split hand/foot malformation (ectrodactyly) type 1), and among its related pathways are TP53 network and Sumoylation by RanBP2 regulates transcriptional repression. Affiliated tissues include heart and skeletal muscle, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Aliases & Classifications for Split Hand

Sources:
49Orphanet, 26ICD10 via Orphanet
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Related Diseases for Split Hand

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Split Hand family:

split hand, unilateral split hand, bilateral

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1split-hand/foot malformation 630.8WNT10B
2syndactyly30.3TP63, SHFM1, FBXW4
3split foot11.0
4split hand foot malformation11.0
5split hand foot malformation 110.7
6split hand split foot nystagmus10.5
7split hand urinary anomalies spina bifida10.5
8split hand split foot malformation autosomal recessive10.5
9split hand, bilateral10.5
10split hand/foot malformation x-linked10.4
11split-hand/foot malformation, type 410.4
12n syndrome10.4
13split-hand/foot malformation 510.4
14split hand/foot malformation 210.4
15tibial aplasia - ectrodactyly10.4
16split-hand/foot malformation 310.3
17lateral sclerosis10.2
18amyotrophic lateral sclerosis10.2
19cleft hand absent tibia10.2
20ectodermal dysplasia10.2
21split-hand/foot malformation 1 with sensorineural hearing loss10.2
22split hand, unilateral10.2
23split foot, bilateral10.2
24wolf-hirschhorn syndrome10.2
25hypospadias10.2
26micro syndrome10.2
27wolf–hirschhorn syndrome10.2
28fibular aplasia ectrodactyly10.2
29mondini dysplasia10.2
30mental retardation10.2
31split-hand/foot malformation with long bone deficiency 110.2
32split-hand/foot malformation with long bone deficiency 210.2
33split-hand/foot malformation 3, gene duplication syndrome10.2
34split-hand/foot malformation with long bone deficiency 310.2
35acro-renal-mandibular syndrome10.2
36sensorineural hearing loss10.0
37ladd syndrome10.0
38buphthalmos10.0
39aniridia10.0
40coloboma10.0
41polydactyly10.0
42focal dermal hypoplasia10.0
43amelogenesis imperfecta10.0
44waardenburg's syndrome10.0
45microphthalmia10.0
46congenital nystagmus10.0
47holoprosencephaly10.0
48spina bifida10.0
49urinary tract obstruction10.0
50short syndrome10.0

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



Diseases related to split hand

Clinical Features for Split Hand

Drugs & Therapeutics for Split Hand

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Split Hand

Anatomical Context for Split Hand

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

33
Heart, Skeletal muscle

Animal Models for Split Hand or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Split Hand:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.4TP63, SUMO1, DLX5, DLX6, HOXA13, HAND2
2MP:00053719.1HAND2, FBXW4, HOXA13, DLX6, DLX5, TP63
3MP:00053808.7TP63, TLX1, UBE2I, HAND2, FBXW4, HOXA13

Publications for Split Hand

Sources:
51PubMed
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Articles related to Split Hand:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Split-hand index for the diagnosis of amyotrophic lateral sclerosis. (23017503)
2013
2
Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. (23024267)
2013
3
Split-hand to diagnosis shot. (22999820)
2013
4
Cortical excitability differences in hand muscles follow a split-hand pattern in healthy controls. (24037729)
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: report of 13 new families. (23790188)
2013
8
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia. (23168687)
2013
9
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. (22121204)
2012
10
Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation. (22065540)
2012
11
A boy with Weyers-like ulnar ray/oligodactyly reduction limb defects and split hand malformation: case report. (22029164)
2011
12
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (22140379)
2010
13
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (19401716)
2009
14
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. (19223930)
2009
15
The association of split hand foot malformation (SHFM) and congenital heart defects. (18383509)
2008
16
Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation. (18792980)
2008
17
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. (16761290)
2006
18
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. (16688749)
2006
19
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
20
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes. (15617554)
2005
21
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
22
Split hand foot malformation (SHFM). (16283879)
2005
23
Tibial hemimelia-split hand/foot syndrome with rare anomalies. (15767725)
2005
24
Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. (15539951)
2004
25
Bilateral congenital split hand with tibial aplasia. (15531852)
2004
26
Pathogenesis of split-hand/split-foot malformation. (12668597)
2003
27
Deletion mapping of split hand/split foot malformation with hearing impairment: a case report. (14550969)
2003
28
Split hand and foot malformation: ultrasound detection in the first trimester. (12423492)
2002
29
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? (12401986)
2002
30
Split hand-foot malformation: a congenital central limb ray deficiency. (12432199)
2002
31
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
32
Holoprosencephaly and split hand/foot: an additional case with this rare association. (11666003)
2001
33
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. (9271682)
1997
34
A split hand-split foot (SHFM3) gene is located at 10q24-->25. (8723077)
1996
35
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
36
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. (8160746)
1994
37
On the inheritance of the split hand/split foot malformation. (7802032)
1994
38
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. (8279479)
1993
39
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. (1895319)
1991
40
Bilateral absence of the ulna in twins as a manifestation of the split hand--split foot deformity. (2910312)
1989
41
Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. (3233778)
1988
42
Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. (4007857)
1985
43
The split-hand and split-foot anomaly in a central African Negro population. (6507501)
1984
44
Unilateral split hand in one of monozygotic twins. (6576983)
1983
45
A problem for genetic counselling - split hand deformity. (891014)
1977
46
Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients. (924443)
1977
47
Syndactyly and split hand. (181296)
1976
48
Split hand and foot anomaly in Macaca mulatta: a report of two cases. (5104066)
1971
49
Split-hand with unusual complications. (14361393)
1955
50
Hereditary split-hand in the domestic cat. (13041028)
1953

Genetic Variations for Split Hand

Expression for genes affiliated with Split Hand

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

Search GEO for disease gene expression data for Split Hand.

Pathways for genes affiliated with Split Hand

Sources:
38NCBI BioSystems Database, 54Reactome
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Pathways related to Split Hand according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1TP63, SUMO1
210.1SUMO1, UBE2I
3
Hide members
10.1SUMO1, UBE2I

Compounds for genes affiliated with Split Hand

GO Terms for genes affiliated with Split Hand

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

idNameGO IDScoreTop Affiliating Genes
1nuclear chromatinGO:00079010.0TP63, DLX5, HAND2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure formation involved in morphogenesisGO:04864610.1DLX5, DLX6
2protein sumoylationGO:01692510.1SUMO1, UBE2I
3positive regulation of osteoblast differentiationGO:04566910.1DLX5, WNT10B, TP63
4sympathetic nervous system developmentGO:04848510.0HAND2, TP63
5embryonic limb morphogenesisGO:03032610.0TP63, DLX5, DLX6, FBXW4
6inner ear morphogenesisGO:04247210.0HMX2, DLX5, DLX6
7palate developmentGO:0600219.9HAND2, DLX6, DLX5, SUMO1
8skeletal system developmentGO:0015019.9TP63, DLX5, DLX6, HOXA13
9negative regulation of DNA bindingGO:0433929.8SUMO1, HAND2

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

idNameGO IDScoreTop Affiliating Genes
1SUMO ligase activityGO:01978910.1SUMO1, UBE2I
2RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.7TP63, DLX5, HAND2
3transcription regulatory region DNA bindingGO:0442129.6TP63, DLX5, HOXA13, HAND2

Products for genes affiliated with Split Hand

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Sources for Split Hand

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