MCID: SPL040
MIFTS: 41

Split Hand malady

Bone diseases, Fetal diseases, Rare diseases categories

Summaries for Split Hand

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MalaCards based summary: Split Hand is related to syndactyly and hypospadias. An important gene associated with Split Hand is SHFM1 (split hand/foot malformation (ectrodactyly) type 1), and among its related pathways is Heart Development. Affiliated tissues include bone and heart, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Aliases & Classifications for Split Hand

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Sources:
49Orphanet, 28ICD10 via Orphanet
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Related Diseases for Split Hand

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.3FBXW4, SHFM1, HOXD13, FGF8, TP63
2hypospadias30.2HOXD13, FGF8, HOXA13
3holoprosencephaly30.0FGF8, GLI2
4polydactyly29.9HOXD13, HOXA13, HAND2, GLI2, FGF8
5split foot10.9
6split hand foot malformation10.9
7split-hand/foot malformation with long bone deficiency 110.6
8split hand foot malformation 110.6
9split hand split foot nystagmus10.5
10split-hand/foot malformation 510.5
11split-hand/foot malformation 610.5
12split hand urinary anomalies spina bifida10.5
13split hand/foot malformation x-linked10.4
14split-hand/foot malformation 410.4
15split-hand/foot malformation 1 with sensorineural hearing loss10.4
16lateral sclerosis10.4
17acrorenal mandibular syndrome10.4
18split-hand/foot malformation with long bone deficiency 210.3
19split-hand/foot malformation with long bone deficiency 310.3
20ectodermal dysplasia10.3
21wolf-hirschhorn syndrome10.3
22tibial hemimelia10.3
23focal dermal hypoplasia10.3
24patterson stevenson syndrome10.3
25split hand split foot malformation autosomal recessive10.3
26split-hand/foot malformation 310.3
27hartsfield-bixler-demyer syndrome10.3
28ulna and fibula, absence of, with severe limb deficiency10.2
29ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.2
30limb-mammary syndrome10.2
31thanatophoric dysplasia, type i10.2
32ulnar-mammary syndrome10.2
33neuropathy, hereditary sensory and autonomic, type ii10.2
34ectodermal dysplasia, ectrodactyly, and macular dystrophy10.2
35cornelia de lange syndrome10.2
36adams-oliver syndrome10.2
37hanhart syndrome10.2
38mondini dysplasia10.2
39richieri costa da silva syndrome10.2
40tetramelic monodactyly10.2
41triphalangeal thumbs brachyectrodactyly10.2
42mental retardation10.2
43acro-cardio-facial syndrome10.2
44split hand, unilateral10.2
45split hand, bilateral10.2
46split hand - split foot - deafness10.2
47rapp-hodgkin syndrome10.1TP63
48rett syndrome10.0DLX6, DLX5
49neural tube defects10.0
50acrofacial dysostosis 1, nager type10.0

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



Diseases related to split hand

Symptoms for Split Hand

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Drugs & Therapeutics for Split Hand

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Drug clinical trials:

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Genetic Tests for Split Hand

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Anatomical Context for Split Hand

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MalaCards organs/tissues related to Split Hand:

33
Bone, Heart

Animal Models for Split Hand or affiliated genes

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Publications for Split Hand

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Articles related to Split Hand:

(show top 50)    (show all 165)
idTitleAuthorsYear
1
Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. (24371113)
2014
2
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. (24459211)
2014
3
Split-hand/feet malformation in three tamilian families and review of the reports from India. (24959024)
2014
4
A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3). (23722700)
2013
5
Split-hand plus sign in ALS: differential involvement of the flexor pollicis longus and intrinsic hand muscles. (23121291)
2013
6
Split-hand index for the diagnosis of amyotrophic lateral sclerosis. (23017503)
2013
7
A prenatal case of split-hand malformation associated with 17p13.3 triplication - A dilemma in genetic counseling. (24380768)
2013
8
Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. (23024267)
2013
9
The split hand syndrome in amyotrophic lateral sclerosis. (22100761)
2012
10
A 0.7a88Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. (23169702)
2012
11
A boy with Weyers-like ulnar ray/oligodactyly reduction limb defects and split hand malformation: case report. (22029164)
2011
12
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. (20635353)
2010
13
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). (21078256)
2010
14
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. (19401716)
2009
15
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
16
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. (18515319)
2008
17
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
18
Split-hand/split-foot malformation associated with maternal valproate consumption. (16010085)
2005
19
Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. (15539951)
2004
20
Bilateral congenital split hand with tibial aplasia. (15531852)
2004
21
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. (15121782)
2004
22
Split hand and foot malformation: ultrasound detection in the first trimester. (12423492)
2002
23
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? (12401986)
2002
24
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. (12072797)
2002
25
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. (11168022)
2001
26
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. (11557033)
2001
27
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
28
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (10839977)
2000
29
Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. (9271682)
1997
30
A split hand-split foot (SHFM3) gene is located at 10q24-->25. (8723077)
1996
31
Bilateral split hand/foot malformation and inv(7)(p22q21.3). (7616545)
1995
32
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity. (7942863)
1994
33
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. (8160746)
1994
34
Non-Mendelian transmission in a human developmental disorder: split hand/split foot. (7942849)
1994
35
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? (8074153)
1994
36
Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). (8287181)
1993
37
Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. (8454282)
1993
38
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
1993
39
An epidemiological study of isolated split hand/foot in Hungary, 1975-1984. (8411034)
1993
40
Bilateral split-hand with bilateral tibial aplasia. (2748235)
1989
41
Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. (3233778)
1988
42
X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred. (3817811)
1987
43
Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance. (3308683)
1987
44
The split-hand and split-foot anomaly in a central African Negro population. (6507501)
1984
45
Syndactyly and split hand. Supplement. (213354)
1978
46
A problem for genetic counselling - split hand deformity. (891014)
1977
47
Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients. (924443)
1977
48
Split foot and split hand. (13949144)
1963
49
Hereditary split-hand in the domestic cat. (13041028)
1953
50
Two Brothers, members of a family with "lobster-claw" (split-hand and split-foot deformity), one showing the Skeletal Deformity and the other Aniridia. (19990206)
1935

Variations for Split Hand

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Expression for genes affiliated with Split Hand

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Search GEO for disease gene expression data for Split Hand.

Pathways for genes affiliated with Split Hand

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Pathways related to Split Hand according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9FGF8, HAND2

Compounds for genes affiliated with Split Hand

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GO Terms for genes affiliated with Split Hand

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Cellular components related to Split Hand according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromatinGO:00007909.5DLX5, TP63, HAND2
2transcription factor complexGO:00056679.2TP63, LBX1, HAND2

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1female genitalia morphogenesisGO:004880710.2TP63, RBP4
2anatomical structure formation involved in morphogenesisGO:004864610.2DLX5, DLX6
3urinary bladder developmentGO:006015710.2RBP4, TP63
4prostatic bud formationGO:006051310.2TP63, GLI2
5positive regulation of mesenchymal cell proliferationGO:000205310.0TP63, FBXW4
6head developmentGO:006032210.0GLI2, DLX6
7sympathetic nervous system developmentGO:004848510.0TP63, HAND2
8inner ear morphogenesisGO:004247210.0HMX2, DLX5, DLX6
9palate developmentGO:006002110.0HAND2, DLX6, DLX5
10proximal/distal pattern formationGO:000995410.0GLI2, TP63
11male genitalia developmentGO:00305399.9HOXA13, HOXD13, FGF8
12embryonic limb morphogenesisGO:00303269.9FBXW4, TP63, DLX6, DLX5
13odontogenesis of dentin-containing toothGO:00424759.9GLI2, TP63, HAND2
14embryonic digit morphogenesisGO:00427339.7GLI2, FBXW4, HOXD13, HAND2
15heart developmentGO:00075079.7HAND2, GLI2, RBP4
16positive regulation of mitosisGO:00458409.6FGF8, HOXA13
17positive regulation of transcription, DNA-templatedGO:00458939.4HAND2, TP63, DLX5, GLI2
18heart loopingGO:00019479.4HAND2, LBX1, FGF8
19skeletal system developmentGO:00015019.3GLI2, DLX5, DLX6, TP63, HOXD13, HOXA13
20positive regulation of transcription from RNA polymerase II promoterGO:00459448.9GLI2, TP63, TLX1, HOXD13, HOXA13, HAND2

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:00010779.8HAND2, TP63, DLX5
2transcription regulatory region DNA bindingGO:00442129.1DLX5, GLI2, HAND2, TP63, HOXA13
3sequence-specific DNA bindingGO:00435658.3HOXA13, HOXD13, TLX1, TP63, HMX2, GLI2
4sequence-specific DNA binding transcription factor activityGO:00037007.5TLX1, LBX1, HOXA13, TP63, DLX6, HMX2

Products for genes affiliated with Split Hand

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Sources for Split Hand

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet