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

Sources

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:

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: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Reduction defects of upper limb

Lobster-claw hand

External Ids:

Disease Ontology ¹² DOID:0090026

OMIM ⁵⁸ 225300

ICD9CM ³⁶ 755.58

MeSH ⁴⁵ C574275 D017880

SNOMED-CT ⁶⁹ 13624003 81208006

ICD10 ³⁴ Q71.6 Q71.60

MedGen ⁴³ C2749665

SNOMED-CT via HPO ⁷⁰ 205358006 249769001 249820005 more

UMLS ⁷⁴ C0265554 C2749665

Sources

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.

Sources

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	30.5	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	chromosome 2q35 duplication syndrome	9.8	BHLHA9 TP63
8	split-hand/foot malformation 3	9.7	BTRC FBXW4 SEM1 WNT10B
9	isolated split hand-split foot malformation	9.4	BTRC DLX5 SEM1 TP63 WNT10B
10	rapp-hodgkin syndrome	9.3	DLX5 SEM1 SNCA TP63
11	split-hand/foot malformation 2	8.7	BTRC DLX5 FBXW4 SEM1 SNCA TP63
12	split-hand/foot malformation 4	8.7	BTRC DLX5 FBXW4 SEM1 SNCA TP63
13	split-hand/foot malformation 5	8.7	BTRC DLX5 FBXW4 SEM1 SNCA TP63

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

Sources

Symptoms & Phenotypes for Split-Hand/foot Malformation 6

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

³³ (show all 6)

#	Description	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

Sources

Drugs & Therapeutics for Split-Hand/foot Malformation 6

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

Sources

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

Sources

Anatomical Context for Split-Hand/foot Malformation 6

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

⁴²

Bone

Sources

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 )	Blattner A...R?thlisberger B	2010
2	Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. ( 18515319 )	Ugur SA...Tolun A	2008
3	Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ( 12072797 )	G?l D...Oktenli C	2002

Sources

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	1336.1	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	12072797 18515319 20635353
2	FBXW4	F-Box And WD Repeat Domain Containing 4	Protein Coding	17	DISEASES inferred ¹⁵
3	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	16.59	DISEASES inferred ¹⁵
4	DLX5	Distal-Less Homeobox 5	Protein Coding	16.52	DISEASES inferred ¹⁵
5	SEM1	SEM1 26S Proteasome Complex Subunit	Protein Coding	16.41	DISEASES inferred ¹⁵
6	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	15.97	DISEASES inferred ¹⁵
7	TP63	Tumor Protein P63	Protein Coding	15.57	DISEASES inferred ¹⁵
8	LBX1	Ladybird Homeobox 1	Protein Coding	15.03	DISEASES inferred ¹⁵
9	SNCA	Synuclein Alpha	Protein Coding	13.46	DISEASES inferred ¹⁵
10	FZD8	Frizzled Class Receptor 8	Protein Coding	5.74	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Split-Hand/foot Malformation 6

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

Sources

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 ⁶⁷ Show member pathways TCF dependent signaling in response to WNT ⁶⁷	12.38	BTRC FZD8 SEM1 WNT10B
2	WNT Signaling ⁶⁵	11.94	BTRC FZD8 WNT10B
3	Wnt Signaling Pathway and Pluripotency ¹ Show member pathways Wnt Signaling Pathway ¹	11.83	BTRC FZD8 WNT10B
4	Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling ⁶⁶ Show member pathways Basal cell carcinoma ³⁸ Wnt signaling pathway ³⁸	11.82	BTRC FZD8 WNT10B
5	Hippo signaling pathway ³⁸	11.62	BTRC FZD8 WNT10B
6	Cell cycle Cell cycle (generic schema) ²³ Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²³ G0 and Early G1 ⁶⁷ G2 Phase ⁶⁷	11.54	BTRC FZD8 WNT10B
7	Presenilin-Mediated Signaling ⁶⁵	11.28	BTRC FZD8 WNT10B
8	Signaling pathways regulating pluripotency of stem cells ³⁸	10.94	DLX5 FZD8 WNT10B

Sources

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

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Articles related to 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:

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

Sources for Split-Hand/foot Malformation 6