MCID: SPL034
MIFTS: 22

Split-Hand/foot Malformation 4 malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Split-Hand/foot Malformation 4

About this section

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

Name: Split-Hand/foot Malformation 4 49 11 67 65
Shfm4 22 47 67
 
Split-Hand/foot Malformation, Type 4 22 24

Characteristics:

HPO:

61
split-hand/foot malformation 4:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 605289
MedGen34 C1854442
MeSH36 D017880
UMLS65 C1854442

Summaries for Split-Hand/foot Malformation 4

About this section
OMIM:49 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 pertussis and split hand foot malformation, and has symptoms including ectrodactyly, aplasia/hypoplasia of the phalanges of the toes and aplasia/hypoplasia of the phalanges of the hand. An important gene associated with Split-Hand/foot Malformation 4 is TP63 (Tumor Protein P63). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:67 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

About this section

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 1
Split-Hand/foot Malformation 3

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

idRelated DiseaseScoreTop Affiliating Genes
1pertussis10.4
2split hand foot malformation10.3
3split hand foot malformation 110.3
4split hand split foot malformation autosomal recessive10.3
5split hand/foot malformation x-linked10.3

Graphical network of diseases related to Split-Hand/foot Malformation 4:



Diseases related to split-hand/foot malformation 4

Symptoms for Split-Hand/foot Malformation 4

About this section

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 ectrodactyly HP:0100257
2 aplasia/hypoplasia of the phalanges of the toes HP:0010173
3 aplasia/hypoplasia of the phalanges of the hand HP:0009767
4 aplasia/hypoplasia involving the metacarpal bones HP:0005914
5 aplasia/hypoplasia of metatarsal bones HP:0001964
6 triphalangeal thumb HP:0001199
7 split hand HP:0001171
8 syndactyly HP:0001159

Drugs & Therapeutics for Split-Hand/foot Malformation 4

About this section

Interventional clinical trials:

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

Genetic Tests for Split-Hand/foot Malformation 4

About this section

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

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

Anatomical Context for Split-Hand/foot Malformation 4

About this section

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

33
Bone

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

About this section

Publications for Split-Hand/foot Malformation 4

About this section

Variations for Split-Hand/foot Malformation 4

About this section

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

67
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 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

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

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

About this section

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

About this section

Sources for Split-Hand/foot Malformation 4

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet