SHFM4
MCID: SPL034
MIFTS: 20

Split-Hand/foot Malformation 4 (SHFM4) malady

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split-Hand/foot Malformation 4

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

Name: Split-Hand/foot Malformation 4 54 66 13 69
Split-Hand/foot Malformation, Type 4 24 29
Shfm4 24 66

Characteristics:

HPO:

32
split-hand/foot malformation 4:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 605289
MedGen 40 C1854442
MeSH 42 D017880

Summaries for Split-Hand/foot Malformation 4

OMIM : 54 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 split-hand/foot malformation, type 4, and has symptoms including split hand, triphalangeal thumb and ectrodactyly. An important gene associated with Split-Hand/foot Malformation 4 is TP63 (Tumor Protein P63). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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

Symptoms & Phenotypes for Split-Hand/foot Malformation 4

Symptoms by clinical synopsis from OMIM:

605289

Clinical features from OMIM:

605289

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 split hand 32 HP:0001171
2 triphalangeal thumb 32 HP:0001199
3 ectrodactyly 32 HP:0100257
4 aplasia/hypoplasia involving the metacarpal bones 32 HP:0005914
5 syndactyly 32 HP:0001159
6 aplasia/hypoplasia of the phalanges of the hand 32 HP:0009767
7 aplasia/hypoplasia of the phalanges of the toes 32 HP:0010173
8 aplasia/hypoplasia of metatarsal bones 32 HP:0001964

Drugs & Therapeutics for Split-Hand/foot Malformation 4

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

Genetic Tests for Split-Hand/foot Malformation 4

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

id Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 4 29
2 Split-Hand/foot Malformation, Type 4 24 TP63

Anatomical Context for Split-Hand/foot Malformation 4

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

39
Bone

Publications for Split-Hand/foot Malformation 4

Variations for Split-Hand/foot Malformation 4

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

66
id Symbol AA change Variation ID SNP ID
1 TP63 p.Lys233Glu VAR_020869 rs121908838
2 TP63 p.Lys232Glu VAR_032737
3 TP63 p.Arg319His VAR_032743

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.697A> G (p.Lys233Glu) single nucleotide variant Pathogenic rs121908838 GRCh37 Chromosome 3, 189582138: 189582138
2 TP63 NM_003722.4(TP63): c.955C> T (p.Arg319Cys) single nucleotide variant Pathogenic rs121908839 GRCh37 Chromosome 3, 189585694: 189585694
3 TP63 NM_003722.4(TP63): c.289C> T (p.Arg97Cys) single nucleotide variant Pathogenic rs121908848 GRCh37 Chromosome 3, 189456528: 189456528

Expression for Split-Hand/foot Malformation 4

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

Pathways for Split-Hand/foot Malformation 4

GO Terms for Split-Hand/foot Malformation 4

Sources for Split-Hand/foot Malformation 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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