Split-Hand/foot Malformation 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:
Onset and clinical course incomplete penetrance
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Neuronal diseases Mental diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Reduction defects of upper limb

Lobster-claw hand

External Ids:

OMIM ⁵⁷ 225300

Disease Ontology ¹² DOID:0090026

ICD10 ³³ Q71.6 Q71.60

ICD9CM ³⁵ 755.58

MeSH ⁴⁴ C574275 D017880

SNOMED-CT ⁶⁸ 13624003 81208006

MedGen ⁴² C2749665

SNOMED-CT via HPO ⁶⁹ 258211005 299034005 71358006 more

UMLS ⁷³ C0265554 C2749665

Sources

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 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 : 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.

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Related Diseases for Split-Hand/foot Malformation 6

Diseases in the Split Hand-Foot Malformation family:

Split-Hand/foot Malformation 1	Split-Hand/foot Malformation 6
Split-Hand/foot Malformation 3	Split-Hand/foot Malformation 2
Split-Hand/foot Malformation 4	Split-Hand/foot Malformation 5

Diseases related to Split-Hand/foot Malformation 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	split-hand/foot malformation 1	31.2	DLX5 SEM1 TP63
2	split hand-foot malformation	30.6	BHLHA9 DLX5 FBXW4 SEM1 TP63 WNT10B
3	split hand split foot malformation autosomal recessive	11.1
4	split hand/foot malformation x-linked	11.1
5	paranoid personality disorder	10.0	DLX5 SEM1
6	split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	9.9	DLX5 SEM1
7	rapp-hodgkin syndrome	9.7	DLX5 SEM1 TP63
8	chromosome 2q35 duplication syndrome	9.7	BHLHA9 FBXW4 TP63
9	split-hand/foot malformation 3	9.7	BTRC FBXW4 SEM1 WNT10B
10	isolated split hand-split foot malformation	9.4	BTRC DLX5 SEM1 TP63 WNT10B
11	split-hand/foot malformation 5	9.3	BTRC DLX5 FBXW4 SEM1 TP63 WNT10B
12	split-hand/foot malformation 2	9.3	BTRC DLX5 FBXW4 SEM1 TP63 WNT10B
13	split-hand/foot malformation 4	9.2	BTRC DLX5 FBXW4 SEM1 TP63 WNT10B

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

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Symptoms & Phenotypes for Split-Hand/foot Malformation 6

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Hands:
split hand
ectrodactyly

Skeletal Feet:
split foot

Clinical features from OMIM:

225300

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

³² (show all 6)

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

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	BHLHA9 DLX5 FBXW4 LBX1 TP63

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Drugs & Therapeutics for Split-Hand/foot Malformation 6

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

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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

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Anatomical Context for Split-Hand/foot Malformation 6

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

⁴¹

Bone

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Publications for Split-Hand/foot Malformation 6

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Genes for Split-Hand/foot Malformation 6

Genes related to Split-Hand/foot Malformation 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WNT10B	Wnt Family Member 10B	Protein Coding	1335.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20635353 12072797 18515319
2	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	17.22	DISEASES inferred ¹⁵
3	SEM1	SEM1, 26S Proteasome Complex Subunit	Protein Coding	16.62	DISEASES inferred ¹⁵
4	DLX5	Distal-Less Homeobox 5	Protein Coding	15.78	DISEASES inferred ¹⁵
5	FBXW4	F-Box And WD Repeat Domain Containing 4	Protein Coding	15.4	DISEASES inferred ¹⁵
6	LBX1	Ladybird Homeobox 1	Protein Coding	15.28	DISEASES inferred ¹⁵
7	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	15.27	DISEASES inferred ¹⁵
8	TP63	Tumor Protein P63	Protein Coding	14.78	DISEASES inferred ¹⁵
9	FZD8	Frizzled Class Receptor 8	Protein Coding	6.02	DISEASES inferred ¹⁵

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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

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Expression for Split-Hand/foot Malformation 6

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

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Pathways for Split-Hand/foot Malformation 6

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

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Wnt ⁶⁶ Show member pathways TCF dependent signaling in response to WNT ⁶⁶	12.38	BTRC FZD8 SEM1 WNT10B
2	Wnt Signaling Pathway and Pluripotency ¹ Show member pathways Wnt signaling pathway ³⁷ Wnt Signaling Pathway ¹	12.09	BTRC FZD8 WNT10B
3	WNT Signaling ⁶⁴	11.94	BTRC FZD8 WNT10B
4	Hippo signaling pathway ³⁷	11.62	BTRC FZD8 WNT10B
5	Cell cycle Cell cycle (generic schema) ²² Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²² G0 and Early G1 ⁶⁶ G2 Phase ⁶⁶	11.54	BTRC FZD8 WNT10B
6	Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling ⁶⁵ Show member pathways Basal cell carcinoma ³⁷	11.51	BTRC FZD8 WNT10B
7	Presenilin-Mediated Signaling ⁶⁴	11.28	BTRC FZD8 WNT10B
8	Signaling pathways regulating pluripotency of stem cells ³⁷	10.94	DLX5 FZD8 WNT10B

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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:

#	Name	GO ID	Score	Top Affiliating Genes
1	post-translational protein modification	GO:0043687	9.54	BTRC FBXW4 SEM1
2	canonical Wnt signaling pathway	GO:0060070	9.48	FZD8 WNT10B
3	epithelial cell differentiation	GO:0030855	9.46	DLX5 TP63
4	cellular response to organic cyclic compound	GO:0071407	9.43	BTRC WNT10B
5	positive regulation of osteoblast differentiation	GO:0045669	9.4	TP63 WNT10B
6	embryonic limb morphogenesis	GO:0030326	9.33	DLX5 FBXW4 TP63
7	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	GO:0031146	9.32	BTRC FBXW4
8	anatomical structure formation involved in morphogenesis	GO:0048646	9.26	DLX5 TP63
9	Wnt signaling pathway	GO:0016055	9.26	BTRC FBXW4 FZD8 WNT10B
10	multicellular organism development	GO:0007275	9.17	BHLHA9 DLX5 FBXW4 FZD8 LBX1 TP63

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Sources for Split-Hand/foot Malformation 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Split-Hand/foot Malformation 6 (SHFM6)

Aliases & Classifications for Split-Hand/foot Malformation 6

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Split-Hand/foot Malformation 6

Related Diseases for Split-Hand/foot Malformation 6

Diseases in the Split Hand-Foot Malformation family:

Diseases related to Split-Hand/foot Malformation 6 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Split-Hand/foot Malformation 6

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

Drugs & Therapeutics for Split-Hand/foot Malformation 6

Genetic Tests for Split-Hand/foot Malformation 6

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

Anatomical Context for Split-Hand/foot Malformation 6

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

Publications for Split-Hand/foot Malformation 6

Genes for Split-Hand/foot Malformation 6

Genes related to Split-Hand/foot Malformation 6 (1 elite genes):

Variations for Split-Hand/foot Malformation 6

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

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

Expression for Split-Hand/foot Malformation 6

Pathways for Split-Hand/foot Malformation 6

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

GO Terms for Split-Hand/foot Malformation 6

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

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

Sources for Split-Hand/foot Malformation 6