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 ⁵⁷ ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Shfm6 ⁵⁷ ¹² ⁷²

Split Hand-Foot Malformation 6 ¹² ¹⁵

Split-Hand/foot Malformation, Type 6 ³⁹

Ectrodactyly, Autosomal Recessive ⁵⁷

Ectrodactyly Autosomal Recessive ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype

HPO:

³¹

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

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: ³²

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® ⁵⁷ 225300

OMIM Phenotypic Series ⁵⁷ PS183600

ICD9CM ³⁴ 755.58

MeSH ⁴⁴ C574275 D017880

SNOMED-CT ⁶⁷ 81208006

ICD10 ³² Q71.6

MedGen ⁴¹ C2749665

SNOMED-CT via HPO ⁶⁸ 205358006 249769001 249820005 more

UMLS ⁷⁰ 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) (Updated 20-May-2021)

MalaCards based summary : Split-Hand/foot Malformation 6, also known as shfm6, is related to split hand-foot malformation and split hand split foot malformation autosomal recessive. An important gene associated with Split-Hand/foot Malformation 6 is WNT10B (Wnt Family Member 10B), and among its related pathways/superpathways is MECP2 and Associated Rett Syndrome. Related phenotypes are split hand and finger syndactyly

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 : ⁷² 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 21)

#	Related Disease	Score	Top Affiliating Genes
1	split hand-foot malformation	29.5	WNT10B TP63 SEM1 FBXW4 DPCD DLX6
2	split hand split foot malformation autosomal recessive	10.9
3	split hand/foot malformation x-linked	10.9
4	lacrimoauriculodentodigital syndrome	9.9	FBXW4 BHLHA9
5	agnathia-otocephaly complex	9.9	DLX6 DLX5
6	split-hand/foot malformation 1	9.8	TP63 SEM1 DLX5
7	tooth agenesis	9.7	WNT10B TP63 DLX5
8	orofacial cleft	9.7	TP63 DLX6 DLX5
9	orofacial cleft 8	9.7	TP63 DLX6 DLX5
10	rapp-hodgkin syndrome	9.7	TP63 DLX6 DLX5
11	orofacial cleft 4	9.6	WNT10B TP63 SEM1 DLX6
12	brachydactyly, type a2	9.6	LBX1 FBXW4 DPCD
13	cleft palate, isolated	9.4	TP63 DLX6 DLX5
14	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	9.3	WNT10B TP63 DLX6 DLX5 BHLHA9
15	split-hand/foot malformation 5	9.2	TP63 SEM1 FBXW4 DLX6 DLX5 BHLHA9
16	isolated split hand-split foot malformation	9.0	WNT10B TP63 SEM1 EPS15L1 DLX6 DLX5
17	split-hand/foot malformation 2	9.0	WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
18	split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	9.0	WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
19	chromosome 2q35 duplication syndrome	9.0	WNT10B TP63 SEM1 FBXW4 DLX6 DLX5
20	split-hand/foot malformation 3	8.8	SEM1 LBX1 FBXW4 DPCD DLX6 DLX5
21	split-hand/foot malformation 4	8.0	WNT10B TP63 SEM1 LBX1 FBXW4 EPS15L1

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:

³¹ (show all 6)

#	Description	HPO Source Accession
1	split hand ³¹	HP:0001171
2	finger syndactyly ³¹	HP:0006101
3	toe syndactyly ³¹	HP:0001770
4	hand oligodactyly ³¹	HP:0001180
5	split foot ³¹	HP:0001839
6	foot oligodactyly ³¹	HP:0001849

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Skeletal Hands:
split hand
ectrodactyly

Skeletal Feet:
split foot

Skin Nails Hair Hair:
sparse hair
interrupted eyebrows

Clinical features from OMIM®:

225300 (Updated 20-May-2021)

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	9.8	DLX5 DLX6 EPS15L1 FBXW4 LBX1 TP63
2	limbs/digits/tail	MP:0005371	9.8	BHLHA9 DLX5 DLX6 EPS15L1 FBXW4 LBX1
3	nervous system	MP:0003631	9.7	BHLHA9 DLX5 DLX6 DPCD EPS15L1 LBX1
4	respiratory system	MP:0005388	9.35	DLX5 DLX6 DPCD EPS15L1 TP63
5	skeleton	MP:0005390	9.1	DLX5 DLX6 DPCD FBXW4 TP63 WNT10B

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 ²⁹	WNT10B

Sources

Anatomical Context for Split-Hand/foot Malformation 6

Sources

Publications for Split-Hand/foot Malformation 6

Articles related to Split-Hand/foot Malformation 6:

(show all 18)

#	Title	Authors	PMID	Year
1	Split hand-foot malformation and a novel WNT10B mutation. ⁶ ⁵⁷ ⁶¹	Kantaputra PN...Ketudat Cairns JR	29427788	2018
2	Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. ⁵⁷ ⁶	Blattner A...Rothlisberger B	20635353	2010
3	Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. ⁵⁷ ⁶	Ugur SA...Tolun A	18515319	2008
4	Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. ⁵⁷ ⁶	Gul D...Oktenli C	12072797	2002
5	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ⁶	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
6	Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. ⁵⁷	Elliott AM...Evans JA	16688749	2006
7	Is there an autosomal recessive form of the split hand and split foot malformation? ⁵⁷	Zlotogora J...Nubani N	2918544	1989
8	Ectrodactyly in sisters and half sisters. ⁵⁷	Hennekam RC...Lommen EJ	3346888	1988
9	Ectrodactyly in sisters and half sisters. ⁵⁷	Mufti MH...Wood SK	3585937	1987
10	Split-hand and split-foot deformity inherited as an autosomal recessive trait. ⁵⁷	Verma IC...Mehta S	1248167	1976
11	A recessive form of ectrodactyly, and its implications in genetic counseling. ⁵⁷	Freire-Maia A	5094721	1971
12	A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations. ⁶¹	Al Ghamdi MA...AlBalwi MA	31421290	2020
13	WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. ⁶¹	Brunelle P...Petit F	31050392	2019
14	Duplication of 10q24 locus: broadening the clinical and radiological spectrum. ⁶¹	Holder-Espinasse M...Manouvrier-Hanu S	30622331	2019
15	Bhlha9 regulates apical ectodermal ridge formation during limb development. ⁶¹	Kataoka K...Asahara H	28324176	2018
16	Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3. ⁶¹	Xiang R...Zhou ZB	29263051	2017
17	Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. ⁶¹	Aziz A...Ahmad W	24211389	2014
18	A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. ⁶¹	Khan S...Ahmad W	21554266	2012

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	PubMed IDs
1	WNT10B	Wnt Family Member 10B	Protein Coding	1351.39	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	12072797 18515319
2	FBXW4	F-Box And WD Repeat Domain Containing 4	Protein Coding	8.05	DISEASES inferred ¹⁵
3	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	7.97	DISEASES inferred ¹⁵
4	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	7.9	DISEASES inferred ¹⁵
5	DLX5	Distal-Less Homeobox 5	Protein Coding	7.52	DISEASES inferred ¹⁵
6	DPCD	Deleted In Primary Ciliary Dyskinesia Homolog (Mouse)	Protein Coding	7.28	DISEASES inferred ¹⁵
7	DLX6	Distal-Less Homeobox 6	Protein Coding	7.1	DISEASES inferred ¹⁵
8	EPS15L1	Epidermal Growth Factor Receptor Pathway Substrate 15 Like 1	Protein Coding	6.96	DISEASES inferred ¹⁵
9	LBX1	Ladybird Homeobox 1	Protein Coding	6.92	DISEASES inferred ¹⁵
10	TP63	Tumor Protein P63	Protein Coding	6.86	DISEASES inferred ¹⁵

Sources

Variations for Split-Hand/foot Malformation 6

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

⁶ (show all 12)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	WNT10B	NM_003394.4(WNT10B):c.817del (p.Ala273fs)	Deletion	Pathogenic	634645		GRCh37: 12:49360231-49360231 GRCh38: 12:48966448-48966448
2	WNT10B	NM_003394.4(WNT10B):c.458_461dup (p.Asp155fs)	Duplication	Pathogenic	30237	rs763548858	GRCh37: 12:49361978-49361979 GRCh38: 12:48968195-48968196
3	WNT10B	NM_003394.4(WNT10B):c.689_691ACA[2] (p.Asn232del)	Microsatellite	Pathogenic	599263	rs776938956	GRCh37: 12:49361743-49361745 GRCh38: 12:48967960-48967962
4	WNT10B	NM_003394.4(WNT10B):c.994C>T (p.Arg332Trp)	SNV	Pathogenic	7630	rs121918349	GRCh37: 12:49360054-49360054 GRCh38: 12:48966271-48966271
5	WNT10B	NM_003394.4(WNT10B):c.817dup (p.Ala273fs)	Duplication	Pathogenic	634647		GRCh37: 12:49360230-49360231 GRCh38: 12:48966447-48966448
6	WNT10B	NM_003394.4(WNT10B):c.505C>T (p.Arg169Ter)	SNV	Pathogenic	1029700		GRCh37: 12:49361935-49361935 GRCh38: 12:48968152-48968152
7	WNT10B	NM_003394.4(WNT10B):c.338-1G>C	SNV	Pathogenic/Likely pathogenic	545118	rs1163162816	GRCh37: 12:49362103-49362103 GRCh38: 12:48968320-48968320
8	WNT10B	NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter)	SNV	Likely pathogenic	522440	rs763991433	GRCh37: 12:49361764-49361764 GRCh38: 12:48967981-48967981
9	WNT10B	NM_003394.4(WNT10B):c.746G>T (p.Cys249Phe)	SNV	Likely pathogenic	634646		GRCh37: 12:49360302-49360302 GRCh38: 12:48966519-48966519
10	WNT10B	NM_003394.4(WNT10B):c.949T>A (p.Phe317Ile)	SNV	Likely pathogenic	634648		GRCh37: 12:49360099-49360099 GRCh38: 12:48966316-48966316
11	WNT10B	NM_003394.4(WNT10B):c.257A>C (p.Gln86Pro)	SNV	Likely pathogenic	638164	rs1592252556	GRCh37: 12:49363952-49363952 GRCh38: 12:48970169-48970169
12	WNT10B	NM_003394.4(WNT10B):c.290T>C (p.Leu97Pro)	SNV	Uncertain significance	623323	rs1458667581	GRCh37: 12:49363919-49363919 GRCh38: 12:48970136-48970136

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

⁷²

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

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	MECP2 and Associated Rett Syndrome ¹	10.42	DLX6 DLX5

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	chromatin	GO:0000785	9.02	TP63 LBX1 DLX6 DLX5 BHLHA9

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell differentiation	GO:0030154	9.85	TP63 LBX1 DLX6 DLX5
2	regulation of transcription by RNA polymerase II	GO:0006357	9.8	WNT10B TP63 LBX1 DLX6 DLX5 BHLHA9
3	positive regulation of canonical Wnt signaling pathway	GO:0090263	9.63	WNT10B SEM1 DLX5
4	skeletal system development	GO:0001501	9.58	TP63 DLX6 DLX5
5	positive regulation of osteoblast differentiation	GO:0045669	9.54	WNT10B TP63
6	roof of mouth development	GO:0060021	9.52	DLX6 DLX5
7	positive regulation of epithelial cell proliferation	GO:0050679	9.51	DLX6 DLX5
8	multicellular organism development	GO:0007275	9.5	WNT10B TP63 LBX1 FBXW4 DLX6 DLX5
9	inner ear morphogenesis	GO:0042472	9.49	DLX6 DLX5
10	developmental process	GO:0032502	9.48	TP63 BHLHA9
11	head development	GO:0060322	9.43	DLX6 DLX5
12	epithelial cell differentiation	GO:0030855	9.43	TP63 DLX6 DLX5
13	embryo development	GO:0009790	9.37	DLX6 DLX5
14	anatomical structure formation involved in morphogenesis	GO:0048646	9.33	TP63 DLX6 DLX5
15	embryonic limb morphogenesis	GO:0030326	8.92	TP63 FBXW4 DLX6 DLX5

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.02	TP63 LBX1 DLX6 DLX5 BHLHA9

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 FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

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

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

UniProtKB/Swiss-Prot 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