MCID: VND004
MIFTS: 19

Van Der Woude Syndrome 2

Categories: Genetic 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 53 75 29 13 6 73
Vws2 57 53 75
Van Der Woude Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
van der woude syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606713
MedGen 42 C1847604
UMLS 73 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)

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 cleft palate and cleft upper lip

UniProtKB/Swiss-Prot : 75 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 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 11.3
2 van der woude syndrome 1 8.9 CFAP57 GRHL3

Symptoms & Phenotypes for Van Der Woude Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
lower lip pits
cleft lip
cleft palate
uvular anomaly

Head And Neck Teeth:
anodontia (rare)


Clinical features from OMIM:

606713

Human phenotypes related to Van Der Woude Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 cleft upper lip 32 HP:0000204
3 anodontia 32 occasional (7.5%) HP:0000674

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

Variations for Van Der Woude Syndrome 2

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

75
# 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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRHL3 NM_198173.2(GRHL3): c.970_971insGT (p.Phe324Cysfs) insertion Pathogenic rs879255573 GRCh38 Chromosome 1, 24339685: 24339686
2 GRHL3 NM_198173.2(GRHL3): c.970_971insGT (p.Phe324Cysfs) insertion Pathogenic rs879255573 GRCh37 Chromosome 1, 24666175: 24666176
3 GRHL3 NM_198173.2(GRHL3): c.1563_1566delGGAG (p.Glu522Leufs) deletion Pathogenic rs879255243 GRCh37 Chromosome 1, 24673977: 24673980
4 GRHL3 NM_198173.2(GRHL3): c.1563_1566delGGAG (p.Glu522Leufs) deletion Pathogenic rs879255243 GRCh38 Chromosome 1, 24347487: 24347490
5 GRHL3 NM_198173.2(GRHL3): c.893G> A (p.Arg298His) single nucleotide variant Pathogenic rs752673677 GRCh37 Chromosome 1, 24664534: 24664534
6 GRHL3 NM_198173.2(GRHL3): c.893G> A (p.Arg298His) single nucleotide variant Pathogenic rs752673677 GRCh38 Chromosome 1, 24338044: 24338044
7 GRHL3 NM_198173.2(GRHL3): c.1419+1G> T single nucleotide variant Pathogenic rs879255244 GRCh37 Chromosome 1, 24669516: 24669516
8 GRHL3 NM_198173.2(GRHL3): c.1419+1G> T single nucleotide variant Pathogenic rs879255244 GRCh38 Chromosome 1, 24343026: 24343026
9 GRHL3 NM_198173.2(GRHL3): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs879255245 GRCh37 Chromosome 1, 24668728: 24668728
10 GRHL3 NM_198173.2(GRHL3): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs879255245 GRCh38 Chromosome 1, 24342238: 24342238
11 GRHL3 NM_001195010.1(GRHL3): c.1223C> T (p.Thr408Met) single nucleotide variant Benign rs41268753 GRCh37 Chromosome 1, 24669457: 24669457
12 GRHL3 NM_001195010.1(GRHL3): c.1223C> T (p.Thr408Met) single nucleotide variant Benign rs41268753 GRCh38 Chromosome 1, 24342967: 24342967
13 GRHL3 NM_001195010.1(GRHL3): c.1313A> G (p.Asn438Ser) single nucleotide variant Benign rs116396279 GRCh37 Chromosome 1, 24671418: 24671418
14 GRHL3 NM_001195010.1(GRHL3): c.1313A> G (p.Asn438Ser) single nucleotide variant Benign rs116396279 GRCh38 Chromosome 1, 24344928: 24344928
15 GRHL3 NM_001195010.1(GRHL3): c.341T> C (p.Val114Ala) single nucleotide variant Benign rs34637004 GRCh37 Chromosome 1, 24663184: 24663184
16 GRHL3 NM_001195010.1(GRHL3): c.341T> C (p.Val114Ala) single nucleotide variant Benign rs34637004 GRCh38 Chromosome 1, 24336694: 24336694
17 GRHL3 NM_001195010.1(GRHL3): c.761G> A (p.Trp254Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 24664540: 24664540
18 GRHL3 NM_001195010.1(GRHL3): c.761G> A (p.Trp254Ter) single nucleotide variant Pathogenic 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

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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