VWS2
MCID: VND004
MIFTS: 22

Van Der Woude Syndrome 2 (VWS2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Van Der Woude Syndrome 2

MalaCards integrated aliases for Van Der Woude Syndrome 2:

Name: Van Der Woude Syndrome 2 58 54 76 30 13 6 74
Vws2 58 54 76
Van Der Woude Syndrome, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
van der woude syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 606713
MedGen 43 C1847604
UMLS 74 C1847604

Summaries for Van Der Woude Syndrome 2

OMIM : 58 Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300). (606713)

MalaCards based summary : Van Der Woude Syndrome 2, also known as vws2, is related to popliteal pterygium syndrome and van der woude syndrome 1. An important gene associated with Van Der Woude Syndrome 2 is GRHL3 (Grainyhead Like Transcription Factor 3). Related phenotypes are anodontia and cleft palate

UniProtKB/Swiss-Prot : 76 Van der Woude syndrome 2: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.

Related Diseases for Van Der Woude Syndrome 2

Diseases in the Van Der Woude Syndrome 1 family:

Van Der Woude Syndrome 2

Diseases related to Van Der Woude Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 popliteal pterygium syndrome 11.5
2 van der woude syndrome 1 9.4 CFAP57 GRHL3

Symptoms & Phenotypes for Van Der Woude Syndrome 2

Human phenotypes related to Van Der Woude Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 anodontia 33 occasional (7.5%) HP:0000674
2 cleft palate 33 HP:0000175
3 cleft upper lip 33 HP:0000204

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
uvular anomaly

Head And Neck Teeth:
anodontia (rare)

Clinical features from OMIM:

606713

Drugs & Therapeutics for Van Der Woude Syndrome 2

Search Clinical Trials , NIH Clinical Center for Van Der Woude Syndrome 2

Genetic Tests for Van Der Woude Syndrome 2

Genetic tests related to Van Der Woude Syndrome 2:

# Genetic test Affiliating Genes
1 Van Der Woude Syndrome 2 30 GRHL3

Anatomical Context for Van Der Woude Syndrome 2

Publications for Van Der Woude Syndrome 2

Articles related to Van Der Woude Syndrome 2:

# Title Authors Year
1
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. ( 24360809 )
2014
2
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. ( 21574244 )
2011
3
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. ( 20184620 )
2010
4
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. ( 16160700 )
2005
5
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. ( 11781685 )
2001

Variations for Van Der Woude Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Van Der Woude Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 GRHL3 p.Arg298His VAR_072616 rs752673677
2 GRHL3 p.Arg391Cys VAR_072617 rs879255245
3 GRHL3 p.Arg520Gln VAR_072618 rs946439477

ClinVar genetic disease variations for Van Der Woude Syndrome 2:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP57 NM_152498.3(CFAP57): c.1567G> T (p.Asp523Tyr) single nucleotide variant Uncertain significance rs387907122 GRCh37 Chromosome 1, 43672415: 43672415
2 CFAP57 NM_152498.3(CFAP57): c.1567G> T (p.Asp523Tyr) single nucleotide variant Uncertain significance rs387907122 GRCh38 Chromosome 1, 43206744: 43206744
3 GRHL3 NM_198173.2(GRHL3): c.970_971insGT (p.Phe324Cysfs) insertion Pathogenic rs879255573 GRCh38 Chromosome 1, 24339685: 24339686
4 GRHL3 NM_198173.2(GRHL3): c.970_971insGT (p.Phe324Cysfs) insertion Pathogenic rs879255573 GRCh37 Chromosome 1, 24666175: 24666176
5 GRHL3 NM_198174.2(GRHL3): c.1563_1566delGGAG (p.Glu522Leufs) deletion Pathogenic rs879255243 GRCh37 Chromosome 1, 24673977: 24673980
6 GRHL3 NM_198174.2(GRHL3): c.1563_1566delGGAG (p.Glu522Leufs) deletion Pathogenic rs879255243 GRCh38 Chromosome 1, 24347487: 24347490
7 GRHL3 NM_198173.2(GRHL3): c.893G> A (p.Arg298His) single nucleotide variant Pathogenic rs752673677 GRCh37 Chromosome 1, 24664534: 24664534
8 GRHL3 NM_198173.2(GRHL3): c.893G> A (p.Arg298His) single nucleotide variant Pathogenic rs752673677 GRCh38 Chromosome 1, 24338044: 24338044
9 GRHL3 NM_198173.2(GRHL3): c.1419+1G> T single nucleotide variant Pathogenic rs879255244 GRCh37 Chromosome 1, 24669516: 24669516
10 GRHL3 NM_198173.2(GRHL3): c.1419+1G> T single nucleotide variant Pathogenic rs879255244 GRCh38 Chromosome 1, 24343026: 24343026
11 GRHL3 NM_198173.2(GRHL3): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs879255245 GRCh37 Chromosome 1, 24668728: 24668728
12 GRHL3 NM_198173.2(GRHL3): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs879255245 GRCh38 Chromosome 1, 24342238: 24342238
13 GRHL3 NM_001195010.1(GRHL3): c.1223C> T (p.Thr408Met) single nucleotide variant Benign rs41268753 GRCh37 Chromosome 1, 24669457: 24669457
14 GRHL3 NM_001195010.1(GRHL3): c.1223C> T (p.Thr408Met) single nucleotide variant Benign rs41268753 GRCh38 Chromosome 1, 24342967: 24342967
15 GRHL3 NM_001195010.1(GRHL3): c.1313A> G (p.Asn438Ser) single nucleotide variant Benign rs116396279 GRCh38 Chromosome 1, 24344928: 24344928
16 GRHL3 NM_001195010.1(GRHL3): c.1313A> G (p.Asn438Ser) single nucleotide variant Benign rs116396279 GRCh37 Chromosome 1, 24671418: 24671418
17 GRHL3 NM_001195010.1(GRHL3): c.341T> C (p.Val114Ala) single nucleotide variant Benign rs34637004 GRCh37 Chromosome 1, 24663184: 24663184
18 GRHL3 NM_001195010.1(GRHL3): c.341T> C (p.Val114Ala) single nucleotide variant Benign rs34637004 GRCh38 Chromosome 1, 24336694: 24336694
19 GRHL3 NM_001195010.1(GRHL3): c.761G> A (p.Trp254Ter) single nucleotide variant Pathogenic rs1553172687 GRCh37 Chromosome 1, 24664540: 24664540
20 GRHL3 NM_001195010.1(GRHL3): c.761G> A (p.Trp254Ter) single nucleotide variant Pathogenic rs1553172687 GRCh38 Chromosome 1, 24338050: 24338050

Expression for Van Der Woude Syndrome 2

Search GEO for disease gene expression data for Van Der Woude Syndrome 2.

Pathways for Van Der Woude Syndrome 2

GO Terms for Van Der Woude Syndrome 2

Sources for Van Der Woude Syndrome 2

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