MCID: SPL034
MIFTS: 19

Split-Hand/foot Malformation 4 malady

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Split-Hand/foot Malformation 4

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Aliases & Descriptions for Split-Hand/foot Malformation 4:

Name: Split-Hand/foot Malformation 4 51 69 12 67
Shfm4 24 69 49
 
Split-Hand/foot Malformation, Type 4 24 26

Characteristics:

HPO:

63
split-hand/foot malformation 4:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 605289
MedGen36 C1854442
MeSH38 D017880

Summaries for Split-Hand/foot Malformation 4

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OMIM:51 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 4, is also known as shfm4, and has symptoms including syndactyly, split hand and triphalangeal thumb. An important gene associated with Split-Hand/foot Malformation 4 is TP63 (Tumor Protein P63). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:69 Split-hand/foot malformation 4: A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Related Diseases for Split-Hand/foot Malformation 4

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Symptoms for Split-Hand/foot Malformation 4

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Symptoms by clinical synopsis from OMIM:

605289

Clinical features from OMIM:

605289

Human phenotypes related to Split-Hand/foot Malformation 4:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 syndactyly63 HP:0001159
2 split hand63 HP:0001171
3 triphalangeal thumb63 HP:0001199
4 aplasia/hypoplasia of metatarsal bones63 HP:0001964
5 aplasia/hypoplasia involving the metacarpal bones63 HP:0005914
6 aplasia/hypoplasia of the phalanges of the hand63 HP:0009767
7 aplasia/hypoplasia of the phalanges of the toes63 HP:0010173
8 ectrodactyly63 HP:0100257

Drugs & Therapeutics for Split-Hand/foot Malformation 4

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Interventional clinical trials:

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

Genetic Tests for Split-Hand/foot Malformation 4

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

id Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 426
2 Split-Hand/foot Malformation, Type 424 TP63

Anatomical Context for Split-Hand/foot Malformation 4

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MalaCards organs/tissues related to Split-Hand/foot Malformation 4:

35
Bone

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

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Publications for Split-Hand/foot Malformation 4

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Variations for Split-Hand/foot Malformation 4

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

69
id Symbol AA change Variation ID SNP ID
1TP63p.Lys233GluVAR_020869rs121908838
2TP63p.Lys232GluVAR_032737
3TP63p.Arg319HisVAR_032743

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TP63NM_003722.4(TP63): c.697A> G (p.Lys233Glu)SNVPathogenicrs121908838GRCh37Chr 3, 189582138: 189582138
2TP63NM_003722.4(TP63): c.955C> T (p.Arg319Cys)SNVPathogenicrs121908839GRCh37Chr 3, 189585694: 189585694
3TP63NM_003722.4(TP63): c.289C> T (p.Arg97Cys)SNVPathogenicrs121908848GRCh37Chr 3, 189456528: 189456528

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

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

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

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

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Sources for Split-Hand/foot Malformation 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet