SHFM6
MCID: SPL033
MIFTS: 37

Split-Hand/foot Malformation 6 (SHFM6)

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

Aliases & Classifications for Split-Hand/foot Malformation 6

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

Name: Split-Hand/foot Malformation 6 58 76 30 13 6 74
Shfm6 58 12 76
Split Hand-Foot Malformation 6 12 15
Split-Hand/foot Malformation, Type 6 41
Ectrodactyly, Autosomal Recessive 58
Ectrodactyly Autosomal Recessive 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

33
split-hand/foot malformation 6:
Onset and clinical course incomplete penetrance
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090026
OMIM 58 225300
ICD9CM 36 755.58
SNOMED-CT 69 13624003 81208006
ICD10 34 Q71.6 Q71.60
MedGen 43 C2749665

Summaries for Split-Hand/foot Malformation 6

OMIM : 58 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. Affiliated tissues include bone, and related phenotypes are finger syndactyly and split hand

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 : 76 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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 33 HP:0006101
2 split hand 33 HP:0001171
3 toe syndactyly 33 HP:0001770
4 split foot 33 HP:0001839
5 foot oligodactyly 33 HP:0001849
6 hand oligodactyly 33 HP:0001180

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
split hand
ectrodactyly

Skeletal Feet:
split foot

Clinical features from OMIM:

225300

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.35 BHLHA9 DLX5 FBXW4 LBX1 TP63
2 taste/olfaction MP:0005394 8.8 DLX5 SNCA TP63

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 30 WNT10B

Anatomical Context for Split-Hand/foot Malformation 6

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

42
Bone

Publications for Split-Hand/foot Malformation 6

Articles related to Split-Hand/foot Malformation 6:

# Title Authors Year
1
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. ( 20635353 )
2010
2
Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. ( 18515319 )
2008
3
Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ( 12072797 )
2002

Variations for Split-Hand/foot Malformation 6

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

76
# 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 (show all 11)
# 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 rs1163162816 GRCh38 Chromosome 12, 48968320: 48968320
7 WNT10B NM_003394.3(WNT10B): c.338-1G> C single nucleotide variant Likely pathogenic rs1163162816 GRCh37 Chromosome 12, 49362103: 49362103
8 WNT10B NM_003394.4(WNT10B): c.695_697del (p.Asn232del) deletion Pathogenic rs776938956 GRCh37 Chromosome 12, 49361743: 49361745
9 WNT10B NM_003394.4(WNT10B): c.695_697del (p.Asn232del) deletion Pathogenic rs776938956 GRCh38 Chromosome 12, 48967960: 48967962
10 WNT10B NM_003394.4(WNT10B): c.290T> C (p.Leu97Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 48970136: 48970136
11 WNT10B NM_003394.4(WNT10B): c.290T> C (p.Leu97Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 49363919: 49363919

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 rough endoplasmic reticulum GO:0005791 8.96 SNCA TP63
2 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:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.71 FZD8 SNCA TP63 WNT10B
2 post-translational protein modification GO:0043687 9.63 BTRC FBXW4 SEM1
3 positive regulation of osteoblast differentiation GO:0045669 9.43 TP63 WNT10B
4 protein destabilization GO:0031648 9.37 BTRC SNCA
5 embryonic limb morphogenesis GO:0030326 9.33 DLX5 FBXW4 TP63
6 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.32 BTRC FBXW4
7 anatomical structure formation involved in morphogenesis GO:0048646 9.26 DLX5 TP63
8 Wnt signaling pathway GO:0016055 9.26 BTRC FBXW4 FZD8 WNT10B
9 multicellular organism development GO:0007275 9.17 BHLHA9 DLX5 FBXW4 FZD8 LBX1 TP63

Molecular functions related to Split-Hand/foot Malformation 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.8 DLX5 SNCA TP63

Sources for Split-Hand/foot Malformation 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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