MCID: SPL026
MIFTS: 18

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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OMIM:46 Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with... (605289) more...

MalaCards based summary: Split-Hand/foot Malformation, Type 4, is also known as split-hand/foot malformation 4, and has symptoms including autosomal dominant inheritance, syndactyly and aplasia/hypoplasia of metatarsal bones. An important gene associated with Split-Hand/foot Malformation, Type 4 is TP63 (tumor protein p63).

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

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Split-Hand/foot Malformation, Type 4, Aliases & Descriptions:

Name: Split-Hand/foot Malformation, Type 4 21 23
 
Split-Hand/foot Malformation 4 46 61


Classifications:

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


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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Clinical features from OMIM:

605289

HPO human phenotypes related to Split-Hand/foot Malformation, Type 4:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 syndactyly HP:0001159
3 aplasia/hypoplasia of metatarsal bones HP:0001964
4 aplasia/hypoplasia involving the metacarpal bones HP:0005914
5 aplasia/hypoplasia of the phalanges of the hand HP:0009767
6 aplasia/hypoplasia of the phalanges of the toes HP:0010173
7 ectrodactyly HP:0100257

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

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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

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

63
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:

7
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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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

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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
  • Proteins
  • Kits and Assays

Sources for Split-Hand/foot Malformation, Type 4

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet