MCID: SPL026
MIFTS: 15

Split-Hand/foot Malformation, Type 4 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Split-Hand/foot Malformation, Type 4

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Sources:
48OMIM, 34MalaCards
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MalaCards: Split-Hand/foot Malformation, Type 4, is also known as split-hand/foot malformation 4 An important gene associated with Split-Hand/foot Malformation, Type 4 is TP63 (tumor protein p63).

Description from OMIM:48 605289

Aliases & Classifications for Split-Hand/foot Malformation, Type 4

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Aliases & Descriptions:

split-hand/foot malformation, type 4 21 23
split-hand/foot malformation 4 48 63


Related Diseases for Split-Hand/foot Malformation, Type 4

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Symptoms for Split-Hand/foot Malformation, Type 4

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Sources:
48OMIM
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Clinical features from OMIM:

605289

Drugs & Therapeutics for Split-Hand/foot Malformation, Type 4

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Split-Hand/foot Malformation, Type 4

Drug clinical trials:

Search ClinicalTrials for Split-Hand/foot Malformation, Type 4

Search NIH Clinical Center for Split-Hand/foot Malformation, Type 4

Search CenterWatch for Split-Hand/foot Malformation, Type 4

Genetic Tests for Split-Hand/foot Malformation, Type 4

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21GeneTests, 23GTR
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Genetic tests related to Split-Hand/foot Malformation, Type 4:

id Genetic test Affiliating Genes
1 Split-Hand/foot Malformation, Type 421 TP63
2 Split-Hand/foot Malformation 423

Anatomical Context for Split-Hand/foot Malformation, Type 4

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Animal Models for Split-Hand/foot Malformation, Type 4 or affiliated genes

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Publications for Split-Hand/foot Malformation, Type 4

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Variations for Split-Hand/foot Malformation, Type 4

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Split-Hand/foot Malformation, Type 4:

65
id Symbol AA change Variation ID SNP ID
1TP63p.Lys233GluVAR_020869
2TP63p.Lys232GluVAR_032737
3TP63p.Arg319HisVAR_032743

Clinvar genetic disease variations for Split-Hand/foot Malformation, Type 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1TP63NM_003722.4(TP63): c.697A> G (p.Lys233Glu)single nucleotide variantPathogenicrs121908838GRCh37Chr 3, 189582138: 189582138
2TP63NM_003722.4(TP63): c.955C> T (p.Arg319Cys)single nucleotide variantPathogenicrs121908839GRCh37Chr 3, 189585694: 189585694
3TP63NM_003722.4(TP63): c.289C> T (p.Arg97Cys)single nucleotide variantPathogenicrs121908848GRCh37Chr 3, 189456528: 189456528

Expression for genes affiliated with Split-Hand/foot Malformation, Type 4

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Split-Hand/foot Malformation, Type 4

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Pathways for genes affiliated with Split-Hand/foot Malformation, Type 4

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Compounds for genes affiliated with Split-Hand/foot Malformation, Type 4

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GO Terms for genes affiliated with Split-Hand/foot Malformation, Type 4

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Products for genes affiliated with Split-Hand/foot Malformation, Type 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Split-Hand/foot Malformation, Type 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet