MCID: SPL026
MIFTS: 15

Split-Hand/foot Malformation, Type 4 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Split-Hand/foot Malformation, Type 4

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 605289

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

About this section
Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
See all sources

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 20 22
split-hand/foot malformation 4 47 62


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

About this section

Symptoms for Split-Hand/foot Malformation, Type 4

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

605289

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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

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

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

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Split-Hand/foot Malformation, Type 4:

id Genetic test Affiliating Genes
1 Split-Hand/foot Malformation, Type 420 TP63
2 Split-Hand/foot Malformation 422

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

About this section

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

About this section

Publications for Split-Hand/foot Malformation, Type 4

About this section

Variations for Split-Hand/foot Malformation, Type 4

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Split-Hand/foot Malformation, Type 4:

64
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Split-Hand/foot Malformation, Type 4

Search GEO for disease gene expression data for Split-Hand/foot Malformation, Type 4.

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Split-Hand/foot Malformation, Type 4

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet