MCID: SPL033
MIFTS: 35

Split-Hand/foot Malformation 6

Categories: Genetic diseases, Bone diseases, Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Split-Hand/foot Malformation 6

MalaCards integrated aliases for Split-Hand/foot Malformation 6:

Name: Split-Hand/foot Malformation 6 57 75 29 13 6 73
Shfm6 57 12 75
Split Hand-Foot Malformation 6 12 15
Split-Hand/foot Malformation, Type 6 40
Ectrodactyly, Autosomal Recessive 57
Ectrodactyly Autosomal Recessive 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

32
split-hand/foot malformation 6:
Inheritance autosomal recessive inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 225300
Disease Ontology 12 DOID:0090026
ICD10 33 Q71.6
MedGen 42 C2749665
MeSH 44 D017880

Summaries for Split-Hand/foot Malformation 6

OMIM : 57 Split-hand/split-foot malformation (SHFM) is 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 with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600). (225300)

MalaCards based summary : Split-Hand/foot Malformation 6, also known as shfm6, is related to split-hand/foot malformation 1 and split hand-foot malformation. An important gene associated with Split-Hand/foot Malformation 6 is WNT10B (Wnt Family Member 10B), and among its related pathways/superpathways are Signaling by Wnt and Wnt Signaling Pathway and Pluripotency. Affiliated tissues include bone, and related phenotypes are split hand and hand oligodactyly

Disease Ontology : 12 A split-hand/foot malformation that has material basis in homozygous mutation in the WNT10B gene on chromosome 12q13.

UniProtKB/Swiss-Prot : 75 Split-hand/foot malformation 6: 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 6

Graphical network of the top 20 diseases related to Split-Hand/foot Malformation 6:



Diseases related to Split-Hand/foot Malformation 6

Symptoms & Phenotypes for Split-Hand/foot Malformation 6

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
ectrodactyly
split hand

Skeletal Feet:
split foot


Clinical features from OMIM:

225300

Human phenotypes related to Split-Hand/foot Malformation 6:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 split hand 32 HP:0001171
2 hand oligodactyly 32 HP:0001180
3 toe syndactyly 32 HP:0001770
4 split foot 32 HP:0001839
5 foot oligodactyly 32 HP:0001849
6 finger syndactyly 32 HP:0006101

MGI Mouse Phenotypes related to Split-Hand/foot Malformation 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 DLX5 FBXW4 LBX1 TP63 BHLHA9

Drugs & Therapeutics for Split-Hand/foot Malformation 6

Search Clinical Trials , NIH Clinical Center for Split-Hand/foot Malformation 6

Genetic Tests for Split-Hand/foot Malformation 6

Genetic tests related to Split-Hand/foot Malformation 6:

# Genetic test Affiliating Genes
1 Split-Hand/foot Malformation 6 29 WNT10B

Anatomical Context for Split-Hand/foot Malformation 6

MalaCards organs/tissues related to Split-Hand/foot Malformation 6:

41
Bone

Publications for Split-Hand/foot Malformation 6

Variations for Split-Hand/foot Malformation 6

UniProtKB/Swiss-Prot genetic disease variations for Split-Hand/foot Malformation 6:

75
# Symbol AA change Variation ID SNP ID
1 WNT10B p.Arg332Trp VAR_062516 rs121918349

ClinVar genetic disease variations for Split-Hand/foot Malformation 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT10B NM_003394.3(WNT10B): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs121918349 GRCh37 Chromosome 12, 49360054: 49360054
2 WNT10B NM_003394.3(WNT10B): c.994C> T (p.Arg332Trp) single nucleotide variant Pathogenic rs121918349 GRCh38 Chromosome 12, 48966271: 48966271
3 WNT10B WNT10B, 4-BP DUP, 458AGCA duplication Pathogenic
4 WNT10B NM_003394.3(WNT10B): c.676C> T (p.Arg226Ter) single nucleotide variant Likely pathogenic rs763991433 GRCh38 Chromosome 12, 48967981: 48967981
5 WNT10B NM_003394.3(WNT10B): c.676C> T (p.Arg226Ter) single nucleotide variant Likely pathogenic rs763991433 GRCh37 Chromosome 12, 49361764: 49361764
6 WNT10B NM_003394.3(WNT10B): c.338-1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 48968320: 48968320
7 WNT10B NM_003394.3(WNT10B): c.338-1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 49362103: 49362103

Expression for Split-Hand/foot Malformation 6

Search GEO for disease gene expression data for Split-Hand/foot Malformation 6.

Pathways for Split-Hand/foot Malformation 6

GO Terms for Split-Hand/foot Malformation 6

Cellular components related to Split-Hand/foot Malformation 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SCF ubiquitin ligase complex GO:0019005 8.62 BTRC FBXW4

Biological processes related to Split-Hand/foot Malformation 6 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.65 BTRC FBXW4 SEM1
2 protein polyubiquitination GO:0000209 9.61 BTRC FBXW4 SEM1
3 obsolete positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition GO:0051437 9.54 BTRC SEM1
4 epithelial cell differentiation GO:0030855 9.52 DLX5 TP63
5 cellular response to organic cyclic compound GO:0071407 9.51 BTRC WNT10B
6 positive regulation of canonical Wnt signaling pathway GO:0090263 9.5 DLX5 SEM1 WNT10B
7 NIK/NF-kappaB signaling GO:0038061 9.49 BTRC SEM1
8 positive regulation of osteoblast differentiation GO:0045669 9.46 TP63 WNT10B
9 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.43 BTRC FBXW4 SEM1
10 positive regulation of mesenchymal cell proliferation GO:0002053 9.4 FBXW4 TP63
11 anatomical structure formation involved in morphogenesis GO:0048646 9.37 DLX5 TP63
12 embryonic limb morphogenesis GO:0030326 9.33 DLX5 FBXW4 TP63
13 Wnt signaling pathway GO:0016055 9.26 BTRC FBXW4 FZD8 WNT10B
14 multicellular organism development GO:0007275 9.17 BHLHA9 DLX5 FBXW4 FZD8 LBX1 TP63

Sources for Split-Hand/foot Malformation 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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