MCID: SPL040
MIFTS: 27

Split Hand malady

Bone diseases, Fetal diseases categories

Summaries for Split Hand

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 bone, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Aliases & Classifications for Split Hand

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48Orphanet, 26ICD10 via Orphanet
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Related Diseases for Split Hand

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17GeneCards, 18GeneDecks
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Diseases related to Split Hand via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1split-hand/foot malformation 630.7WNT10B
2syndactyly30.3TP63, SHFM1, FBXW4
3split hand foot malformation 110.5
4split hand split foot nystagmus10.4
5split hand urinary anomalies spina bifida10.4
6split hand/foot malformation x-linked10.4
7split-hand/foot malformation, type 410.4
8split-hand/foot malformation 510.3
9tibial aplasia - ectrodactyly10.3
10split hand foot malformation10.3
11lateral sclerosis10.2
12amyotrophic lateral sclerosis10.2
13cleft hand absent tibia10.2
14split hand split foot malformation autosomal recessive10.2
15split-hand/foot malformation 310.2
16split-hand/foot malformation 1 with sensorineural hearing loss10.2
17split hand/foot malformation 210.2
18wolf-hirschhorn syndrome10.1
19hypospadias10.1
20fibular aplasia ectrodactyly10.1
21split-hand/foot malformation with long bone deficiency 110.1
22split-hand/foot malformation with long bone deficiency 210.1
23split-hand/foot malformation 3, gene duplication syndrome10.1
24split-hand/foot malformation with long bone deficiency 310.1
25acro-renal-mandibular syndrome10.1
26split hand, unilateral10.1
27split hand, bilateral10.1
28choroiditis10.0
29sensorineural hearing loss10.0
30ladd syndrome10.0
31buphthalmos10.0
32aniridia10.0
33coloboma10.0
34polydactyly10.0
35focal dermal hypoplasia10.0
36amelogenesis imperfecta10.0
37microphthalmia10.0
38cornelia de lange syndrome10.0
39tetralogy of fallot10.0
40congenital nystagmus10.0
41holoprosencephaly10.0
42cervical cancer10.0
43cervicitis10.0
44congenital heart defect10.0
45spina bifida10.0
46urinary tract obstruction10.0
47acrorenal mandibular syndrome10.0
48limb deficiencies distal with micrognathia10.0
49patterson stevenson syndrome10.0
50pfeiffer tietze welte syndrome10.0

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



Diseases related to split hand

Clinical Features for Split Hand

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Drugs & Therapeutics for Split Hand

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Split Hand

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Anatomical Context for Split Hand

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32MalaCards
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MalaCards organs/tissues related to Split Hand:

32
Bone

Animal Models for Split Hand or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Split Hand:

36
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

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Genetic Variations for Split Hand

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Expression for genes affiliated with Split Hand

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

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Pathways for genes affiliated with Split Hand

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37NCBI BioSystems Database, 53Reactome
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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
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10.1SUMO1, UBE2I

Compounds for genes affiliated with Split Hand

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GO Terms for genes affiliated with Split Hand

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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

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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