MCID: SPL034
MIFTS: 22

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 50 68 12 66
Shfm4 23 68 48
 
Split-Hand/foot Malformation, Type 4 23 25

Characteristics:

HPO:

62
split-hand/foot malformation 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 605289
MedGen35 C1854442
MeSH37 D017880

Summaries for Split-Hand/foot Malformation 4

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OMIM:50 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, also known as shfm4, is related to split hand foot malformation and split hand foot malformation 1, 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:68 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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Diseases in the Split Hand Foot Malformation family:

Split-Hand/foot Malformation 5 split-hand/foot malformation 4
Split-Hand/foot Malformation 6 Split-Hand/foot Malformation 3
Split Hand Foot Malformation 1

Diseases related to Split-Hand/foot Malformation 4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1split hand foot malformation9.9
2split hand foot malformation 19.9
3split hand/foot malformation x-linked9.9
4split hand split foot malformation autosomal recessive9.9

Symptoms for Split-Hand/foot Malformation 4

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Symptoms by clinical synopsis from OMIM:

605289

Clinical features from OMIM:

605289

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

(show all 8)
id Description Frequency HPO Source Accession
1 syndactyly HP:0001159
2 split hand HP:0001171
3 triphalangeal thumb HP:0001199
4 aplasia/hypoplasia of metatarsal bones HP:0001964
5 aplasia/hypoplasia involving the metacarpal bones HP:0005914
6 aplasia/hypoplasia of the phalanges of the hand HP:0009767
7 aplasia/hypoplasia of the phalanges of the toes HP:0010173
8 ectrodactyly 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 425
2 Split-Hand/foot Malformation, Type 423 TP63

Anatomical Context for Split-Hand/foot Malformation 4

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

34
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:

68
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)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 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet