VWS2
MCID: VND004
MIFTS: 24

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 57 20 72 29 13 6 70
Vws2 57 20 72
Van Der Woude Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
van der woude syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 606713
MedGen 41 C1847604
UMLS 70 C1847604

Summaries for Van Der Woude Syndrome 2

OMIM® : 57 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) (Updated 20-May-2021)

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 : 72 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 31.5 GRHL3 CFAP57
2 van der woude syndrome 1 9.5 GRHL3 CFAP57

Symptoms & Phenotypes for Van Der Woude Syndrome 2

Human phenotypes related to Van Der Woude Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 anodontia 31 occasional (7.5%) HP:0000674
2 cleft palate 31 HP:0000175
3 cleft upper lip 31 HP:0000204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
uvular anomaly

Head And Neck Teeth:
anodontia (rare)

Clinical features from OMIM®:

606713 (Updated 20-May-2021)

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 29 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 PMID Year
1
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 6 57
24360809 2014
2
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. 6 57
20184620 2010
3
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 6 57
16160700 2005
4
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. 6 57
11781685 2001
5
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. 57 61
21574244 2011
6
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. 57
27018472 2016
7
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. 57
27018475 2016
8
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]. 61
22925539 2012
9
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation. 61
17551329 2007

Variations for Van Der Woude Syndrome 2

ClinVar genetic disease variations for Van Der Woude Syndrome 2:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRHL3 NM_198173.3(GRHL3):c.970_971insGT (p.Phe324fs) Insertion Pathogenic 101516 rs879255573 GRCh37: 1:24666174-24666175
GRCh38: 1:24339684-24339685
2 GRHL3 NM_198173.3(GRHL3):c.1559_1562GGAG[1] (p.Glu522fs) Microsatellite Pathogenic 101517 rs879255243 GRCh37: 1:24673973-24673976
GRCh38: 1:24347483-24347486
3 GRHL3 NM_198173.3(GRHL3):c.893G>A (p.Arg298His) SNV Pathogenic 101518 rs752673677 GRCh37: 1:24664534-24664534
GRCh38: 1:24338044-24338044
4 GRHL3 NM_198173.3(GRHL3):c.1419+1G>T SNV Pathogenic 101519 rs879255244 GRCh37: 1:24669516-24669516
GRCh38: 1:24343026-24343026
5 GRHL3 NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys) SNV Pathogenic 101520 rs879255245 GRCh37: 1:24668728-24668728
GRCh38: 1:24342238-24342238
6 GRHL3 NM_198173.3(GRHL3):c.899G>A (p.Trp300Ter) SNV Pathogenic 465251 rs1553172687 GRCh37: 1:24664540-24664540
GRCh38: 1:24338050-24338050
7 CFAP57 NM_152498.3(CFAP57):c.1567G>T (p.Asp523Tyr) SNV Uncertain significance 31150 rs387907122 GRCh37: 1:43672415-43672415
GRCh38: 1:43206744-43206744
8 GRHL3 NM_198173.3(GRHL3):c.205-3C>A SNV Uncertain significance 932032 GRCh37: 1:24661132-24661132
GRCh38: 1:24334642-24334642
9 GRHL3 NM_198173.3(GRHL3):c.550C>G (p.His184Asp) SNV Uncertain significance 1062655 GRCh37: 1:24663255-24663255
GRCh38: 1:24336765-24336765
10 GRHL3 NM_198173.3(GRHL3):c.1159C>T (p.Arg387Cys) SNV Likely benign 790225 rs147284380 GRCh37: 1:24668716-24668716
GRCh38: 1:24342226-24342226
11 GRHL3 NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) SNV Benign 697696 rs34593559 GRCh37: 1:24664239-24664239
GRCh38: 1:24337749-24337749
12 GRHL3 NM_198173.3(GRHL3):c.1363C>G (p.Pro455Ala) SNV Benign 697776 rs141193530 GRCh37: 1:24669459-24669459
GRCh38: 1:24342969-24342969
13 GRHL3 NM_198173.3(GRHL3):c.1368C>T (p.Pro456=) SNV Benign 702168 rs114678222 GRCh37: 1:24669464-24669464
GRCh38: 1:24342974-24342974
14 GRHL3 NM_198173.3(GRHL3):c.1439C>A (p.Pro480His) SNV Benign 702169 rs142369311 GRCh37: 1:24671406-24671406
GRCh38: 1:24344916-24344916
15 GRHL3 NM_198173.3(GRHL3):c.471C>T (p.Ala157=) SNV Benign 703367 rs139093980 GRCh37: 1:24663176-24663176
GRCh38: 1:24336686-24336686
16 GRHL3 NM_198173.3(GRHL3):c.507T>C (p.Asp169=) SNV Benign 707227 rs35868286 GRCh37: 1:24663212-24663212
GRCh38: 1:24336722-24336722
17 GRHL3 NM_198173.3(GRHL3):c.781G>A (p.Val261Ile) SNV Benign 790224 rs145470039 GRCh37: 1:24664220-24664220
GRCh38: 1:24337730-24337730
18 GRHL3 NM_198173.3(GRHL3):c.1451A>G (p.Asn484Ser) SNV Benign 465249 rs116396279 GRCh37: 1:24671418-24671418
GRCh38: 1:24344928-24344928
19 GRHL3 NM_198173.3(GRHL3):c.1361C>T (p.Thr454Met) SNV Benign 465245 rs41268753 GRCh37: 1:24669457-24669457
GRCh38: 1:24342967-24342967
20 GRHL3 NM_198173.3(GRHL3):c.479T>C (p.Val160Ala) SNV Benign 465250 rs34637004 GRCh37: 1:24663184-24663184
GRCh38: 1:24336694-24336694

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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