LPS
MCID: VND002
MIFTS: 52

Van Der Woude Syndrome (LPS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Van Der Woude Syndrome

MalaCards integrated aliases for Van Der Woude Syndrome:

Name: Van Der Woude Syndrome 11 19 42 58 75 53 5 43 14
Lip-Pit Syndrome 11 42 58
Vws 19 42 58
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip 19 42
Vdws 19 42
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 43
Cleft Lip/palate with Mucous Cysts of Lower Lip 58
Lip Pit Syndrome 19
Lps 19

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-9/100000 (Finland, France, France, Australia, Europe) 1-9/1000000 (Taiwan, Province of China, Taiwan, Province of China, United States, United States, Australia) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060239
NCIt 49 C74986
SNOMED-CT 68 79261008
ICD10 31 Q38.0
MESH via Orphanet 44 C536528
ICD10 via Orphanet 32 Q38.0
UMLS via Orphanet 72 C0175697
Orphanet 58 ORPHA888
UMLS 71 C0175697 C1834339

Summaries for Van Der Woude Syndrome

MedlinePlus Genetics: 42 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.

MalaCards based summary: Van Der Woude Syndrome, also known as lip-pit syndrome, is related to van der woude syndrome 2 and van der woude syndrome 1. An important gene associated with Van Der Woude Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Wnt / Hedgehog / Notch. Affiliated tissues include tongue, heart and salivary gland, and related phenotypes are cleft palate and lower lip pit

GARD: 19 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with Van der Woude syndrome have missing teeth. Growth and intelligence are usually normal. This condition is caused by genetic changes in the IRF6 gene and is inherited in a autosomal dominant fashion. Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders. At the more severe end of the spectrum is popliteal pterygium syndrome.

Orphanet: 58 Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

Disease Ontology: 11 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.

Wikipedia: 75 Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits,... more...

Related Diseases for Van Der Woude Syndrome

Diseases in the Van Der Woude Syndrome family:

Van Der Woude Syndrome 1 Van Der Woude Syndrome 2

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

(show top 50) (show all 928)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 2 33.7 GRHL3 CFAP57
2 van der woude syndrome 1 33.5 IRF6 GRHL3
3 cleft lip/palate 31.8 TP63 NECTIN1 MSX1 IRF6 ARHGAP29
4 popliteal pterygium syndrome 31.6 VAX1 TGFB3 TFAP2A TBX22 RIPK4 NECTIN1
5 cleft lip 31.2 VAX1 TP63 TGFB3 TFAP2A TBX22 PAX9
6 cleft lip with or without cleft palate 31.2 TFAP2A NECTIN1 MSX1 ARHGAP29
7 syngnathia 31.2 MSX1 IRF6
8 chromosome 2q35 duplication syndrome 31.1 TP63 NECTIN1 MSX1 IRF6
9 anodontia 31.0 PAX9 MSX1 KDF1
10 ankyloglossia with or without tooth anomalies 30.9 VAX1 TP63 TBX22 PAX9 MSX1 IRF6
11 tooth agenesis 30.9 VAX1 TP63 TGFB3 TBX22 PAX9 NECTIN1
12 cleft lip and alveolus 30.9 TP63 NECTIN1 MSX1 IRF6
13 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 30.7 TP63 NECTIN1 IRF6
14 cleft palate, isolated 30.6 VAX1 TP63 TGFB3 TFAP2A TBX22 PAX9
15 ectodermal dysplasia 30.4 TP63 NECTIN1 MSX1 KDF1 GRHL2
16 orofacial cleft 30.2 VAX1 TP63 TGFB3 TFAP2A TBX22 PAX9
17 fetal encasement syndrome 30.2 RIPK4 KDF1 IRF6 GRHL3
18 fissured tongue 29.8 TP63 IRF6
19 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 29.5 TP63 PAX9 NECTIN1 MSX1 KDF1
20 neural tube defects 29.5 TGFB3 PAX9 MSX1 GRHL3 GRHL2
21 nemaline myopathy 3 11.9
22 van der woude syndrome 1, modifier of 11.5
23 adult respiratory distress syndrome 11.1
24 lrba deficiency 11.0
25 immunodeficiency 67 11.0
26 immunodeficiency 68 11.0
27 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.9
28 cytokine deficiency 10.9
29 multiple pterygium syndrome, escobar variant 10.8
30 toxic shock syndrome 10.8
31 irf6-related disorders 10.8
32 periodontitis 10.7
33 orofacial cleft 6 10.7
34 orofacial clefting syndrome 10.7
35 uvula, bifid 10.6
36 pulmonary edema 10.6
37 mastitis 10.6
38 toxic encephalopathy 10.5
39 liver disease 10.5
40 twin-reversed arterial perfusion sequence 10.5
41 lung disease 10.5
42 acute liver failure 10.4
43 ceroid lipofuscinosis, neuronal, 5 10.4
44 peritonitis 10.4
45 autoimmune disease 10.4
46 endometritis 10.4
47 pulmonary disease, chronic obstructive 10.4
48 respiratory failure 10.4
49 proteasome-associated autoinflammatory syndrome 1 10.4
50 cholera 10.4

Graphical network of the top 20 diseases related to Van Der Woude Syndrome:



Diseases related to Van Der Woude Syndrome

Symptoms & Phenotypes for Van Der Woude Syndrome

Human phenotypes related to Van Der Woude Syndrome:

58 30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
2 lower lip pit 58 30 Frequent (33%) Frequent (79-30%)
HP:0000196
3 cleft upper lip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000204
4 hypodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000668
5 abnormal salivary gland morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010286
6 lip pit 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Van Der Woude Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 ARHGAP29 FOXE1 GRHL1 GRHL2 GRHL3 IRF6
2 homeostasis/metabolism MP:0005376 10.29 ARHGAP29 FOXE1 GRHL1 GRHL3 IRF6 KDF1
3 craniofacial MP:0005382 10.24 ARHGAP29 FOXE1 GRHL2 GRHL3 IRF6 KDF1
4 digestive/alimentary MP:0005381 10.22 ARHGAP29 FOXE1 GRHL3 IRF6 KDF1 MSX1
5 limbs/digits/tail MP:0005371 10.19 GRHL2 GRHL3 IRF6 KDF1 MSX1 PAX9
6 embryo MP:0005380 10.13 ARHGAP29 GRHL2 GRHL3 IRF6 MSX1 PAX9
7 cardiovascular system MP:0005385 10.02 GRHL1 GRHL2 GRHL3 MSX1 NHLH1 PAX9
8 skeleton MP:0005390 9.93 ARHGAP29 GRHL2 GRHL3 IRF6 MSX1 NECTIN1
9 respiratory system MP:0005388 9.91 GRHL2 KDF1 MSX1 PAX9 RIPK4 TBX22
10 mortality/aging MP:0010768 9.89 ARHGAP29 FOXE1 GRHL1 GRHL2 GRHL3 IRF6
11 integument MP:0010771 9.32 FOXE1 GRHL1 GRHL3 IRF6 KDF1 MSX1

Drugs & Therapeutics for Van Der Woude Syndrome

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

Cochrane evidence based reviews: myopathy, actin, congenital, with excess of thin myofilaments

Genetic Tests for Van Der Woude Syndrome

Anatomical Context for Van Der Woude Syndrome

Organs/tissues related to Van Der Woude Syndrome:

MalaCards : Tongue, Heart, Salivary Gland, Cortex, Brain

Publications for Van Der Woude Syndrome

Articles related to Van Der Woude Syndrome:

(show top 50) (show all 363)
# Title Authors PMID Year
1
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 53 62 5
19282774 2009
2
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 53 62 5
19036739 2009
3
A familial case of popliteal pterygium syndrome. 53 62 5
18617879 2008
4
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 53 62 5
12219090 2002
5
Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. 62 5
29115498 2018
6
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 62 5
25784454 2015
7
Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. 62 5
25579819 2014
8
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. 62 5
23949966 2013
9
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. 62 5
23154523 2013
10
Novel IRF6 mutations in Honduran Van der Woude syndrome patients. 62 5
21468557 2011
11
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 62 5
21045959 2010
12
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. 62 5
19623037 2009
13
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model. 5
28945736 2017
14
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. 5
25547932 2014
15
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 5
25548624 2014
16
EEC syndrome-like phenotype in a patient with an IRF6 mutation. 5
22488974 2012
17
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 5
16160700 2005
18
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
19
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 53 62
19536562 2010
20
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. 53 62
19842205 2009
21
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 53 62
19536891 2009
22
Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India. 53 62
19929101 2009
23
Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. 53 62
19368978 2009
24
Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome. 53 62
18813858 2008
25
Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. 53 62
18278815 2008
26
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 53 62
18478600 2008
27
Identification of IRF6 gene variants in three families with Van der Woude syndrome. 53 62
18506368 2008
28
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. 53 62
17873121 2008
29
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. 53 62
17549393 2007
30
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 53 62
17438386 2007
31
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. 53 62
17041603 2006
32
Novel IRF6 mutations in Chinese patients with Van der Woude syndrome. 53 62
16998136 2006
33
Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome. 53 62
16245336 2006
34
[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome]. 53 62
16456794 2006
35
Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome. 53 62
16211254 2005
36
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. 53 62
16132054 2005
37
Variation in IRF6 contributes to nonsyndromic cleft lip and palate. 53 62
16096995 2005
38
Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes. 53 62
15939375 2005
39
[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]. 53 62
15995766 2005
40
Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family. 53 62
15647839 2005
41
Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. 53 62
15558496 2005
42
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. 53 62
15472655 2004
43
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome. 53 62
15013698 2004
44
Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome. 53 62
12964020 2003
45
Novel mutations in the IRF6 gene for Van der Woude syndrome. 53 62
12920575 2003
46
A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. 53 62
12632105 2003
47
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 53 62
14618417 2003
48
Revealing the interlayer van der Waals coupling of bi-layer and tri-layer MoS2 using terahertz coherent phonon spectroscopy. 62
36281319 2022
49
Ultralow-Loss Phonon Polaritons in the Isotope-Enriched α-MoO3. 62
36343338 2022
50
Self-Powered Bidirectional Photoresponse in High-Detectivity WSe2 Phototransistor with Asymmetrical van der Waals Stacking for Retinal Neurons Emulation. 62
36413009 2022

Variations for Van Der Woude Syndrome

ClinVar genetic disease variations for Van Der Woude Syndrome:

5 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF6 NM_006147.4(IRF6):c.454C>T (p.Gln152Ter) SNV Pathogenic
379807 rs1057520738 GRCh37: 1:209968689-209968689
GRCh38: 1:209795344-209795344
2 IRF6 NM_006147.4(IRF6):c.1045G>T (p.Glu349Ter) SNV Pathogenic
1423078 GRCh37: 1:209963855-209963855
GRCh38: 1:209790510-209790510
3 IRF6 NM_006147.4(IRF6):c.575G>A (p.Trp192Ter) SNV Pathogenic
1456094 GRCh37: 1:209965706-209965706
GRCh38: 1:209792361-209792361
4 IRF6 NM_006147.4(IRF6):c.902del (p.Gly301fs) DEL Pathogenic
1459906 GRCh37: 1:209963998-209963998
GRCh38: 1:209790653-209790653
5 IRF6 NM_006147.4(IRF6):c.647_650dup (p.Trp217fs) MICROSAT Pathogenic
1456673 GRCh37: 1:209965630-209965631
GRCh38: 1:209792285-209792286
6 IRF6 NM_006147.4(IRF6):c.478C>T (p.Gln160Ter) SNV Pathogenic
1445221 GRCh37: 1:209968665-209968665
GRCh38: 1:209795320-209795320
7 IRF6 NM_006147.4(IRF6):c.321_322del (p.Val108fs) DEL Pathogenic
1452687 GRCh37: 1:209969750-209969751
GRCh38: 1:209796405-209796406
8 IRF6 NC_000001.10:g.(?_209974565)_(209979435_?)del DEL Pathogenic
1070385 GRCh37: 1:209974565-209979435
GRCh38:
9 IRF6 NM_006147.4(IRF6):c.439del (p.Glu147fs) DEL Pathogenic
1075467 GRCh37: 1:209968704-209968704
GRCh38: 1:209795359-209795359
10 IRF6 NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs) DEL Pathogenic
583293 rs1558038218 GRCh37: 1:209961845-209961855
GRCh38: 1:209788500-209788510
11 IRF6 NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) SNV Pathogenic
40077 rs397515434 GRCh37: 1:209974614-209974614
GRCh38: 1:209801269-209801269
12 IRF6 NM_006147.4(IRF6):c.180G>A (p.Trp60Ter) SNV Pathogenic
843190 rs2077902411 GRCh37: 1:209969892-209969892
GRCh38: 1:209796547-209796547
13 IRF6 NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) SNV Pathogenic
844327 rs2077863259 GRCh37: 1:209963911-209963911
GRCh38: 1:209790566-209790566
14 IRF6 NM_006147.4(IRF6):c.179G>A (p.Trp60Ter) SNV Pathogenic
851809 rs2077902428 GRCh37: 1:209969893-209969893
GRCh38: 1:209796548-209796548
15 IRF6 NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) SNV Pathogenic
3419 rs28942095 GRCh37: 1:209961971-209961971
GRCh38: 1:209788626-209788626
16 IRF6 NC_000001.10:g.(?_209974565)_(209974778_?)del DEL Pathogenic
1070384 GRCh37: 1:209974565-209974778
GRCh38:
17 IRF6 NM_006147.4(IRF6):c.558C>A (p.Cys186Ter) SNV Pathogenic
1073005 GRCh37: 1:209965723-209965723
GRCh38: 1:209792378-209792378
18 IRF6 NM_006147.4(IRF6):c.1195del (p.Ala399fs) DEL Pathogenic
458680 rs1553247602 GRCh37: 1:209961974-209961974
GRCh38: 1:209788629-209788629
19 IRF6 NM_006147.4(IRF6):c.748C>T (p.Arg250Ter) SNV Pathogenic
1074446 GRCh37: 1:209964152-209964152
GRCh38: 1:209790807-209790807
20 IRF6 NM_006147.4(IRF6):c.622C>T (p.Gln208Ter) SNV Pathogenic
938570 rs2077873846 GRCh37: 1:209965659-209965659
GRCh38: 1:209792314-209792314
21 IRF6 NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser) SNV Pathogenic
1455254 GRCh37: 1:209963848-209963848
GRCh38: 1:209790503-209790503
22 IRF6 NM_006147.4(IRF6):c.263A>G (p.Asn88Ser) SNV Pathogenic
1440379 GRCh37: 1:209969809-209969809
GRCh38: 1:209796464-209796464
23 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV Pathogenic
458682 rs1553247595 GRCh37: 1:209961935-209961935
GRCh38: 1:209788590-209788590
24 IRF6 NM_006147.4(IRF6):c.226C>T (p.Pro76Ser) SNV Pathogenic
265196 rs886039388 GRCh37: 1:209969846-209969846
GRCh38: 1:209796501-209796501
25 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV Pathogenic
3415 rs121434227 GRCh37: 1:209969821-209969821
GRCh38: 1:209796476-209796476
26 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) SNV Pathogenic
3414 rs121434226 GRCh37: 1:209969822-209969822
GRCh38: 1:209796477-209796477
27 IRF6 NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) SNV Pathogenic
217873 rs769068305 GRCh37: 1:209961959-209961959
GRCh38: 1:209788614-209788614
28 IRF6 NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) SNV Pathogenic
458684 rs1553247774 GRCh37: 1:209964151-209964151
GRCh38: 1:209790806-209790806
29 IRF6 NM_006147.4(IRF6):c.133del (p.Arg45fs) DEL Pathogenic
659301 rs1571986293 GRCh37: 1:209974626-209974626
GRCh38: 1:209801281-209801281
30 IRF6 NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser) SNV Pathogenic
1019576 rs2077857559 GRCh37: 1:209963053-209963053
GRCh38: 1:209789708-209789708
31 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) SNV Pathogenic
449039 rs1553248641 GRCh37: 1:209974734-209974734
GRCh38: 1:209801389-209801389
32 IRF6 NM_006147.4(IRF6):c.292G>C (p.Asp98His) SNV Likely Pathogenic
650115 rs1571983348 GRCh37: 1:209969780-209969780
GRCh38: 1:209796435-209796435
33 IRF6 NM_006147.4(IRF6):c.176C>T (p.Ala59Val) SNV Likely Pathogenic
663350 rs1571983440 GRCh37: 1:209969896-209969896
GRCh38: 1:209796551-209796551
34 IRF6 NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) SNV Likely Pathogenic
849913 rs2077857680 GRCh37: 1:209963070-209963070
GRCh38: 1:209789725-209789725
35 IRF6 NM_006147.4(IRF6):c.269G>C (p.Ser90Thr) SNV Likely Pathogenic
1507060 GRCh37: 1:209969803-209969803
GRCh38: 1:209796458-209796458
36 IRF6 NM_006147.4(IRF6):c.232A>G (p.Lys78Glu) SNV Likely Pathogenic
458683 rs1553248271 GRCh37: 1:209969840-209969840
GRCh38: 1:209796495-209796495
37 IRF6 NM_006147.4(IRF6):c.120G>T (p.Trp40Cys) SNV Likely Pathogenic
458681 rs1553248635 GRCh37: 1:209974639-209974639
GRCh38: 1:209801294-209801294
38 IRF6 NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) SNV Likely Pathogenic
643611 rs1571979607 GRCh37: 1:209963950-209963950
GRCh38: 1:209790605-209790605
39 IRF6 NM_006147.4(IRF6):c.1060+1G>A SNV Likely Pathogenic
458679 rs781506407 GRCh37: 1:209963839-209963839
GRCh38: 1:209790494-209790494
40 IRF6 NM_006147.4(IRF6):c.668-8C>G SNV Uncertain Significance
934161 rs2077865321 GRCh37: 1:209964240-209964240
GRCh38: 1:209790895-209790895
41 IRF6 NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn) SNV Uncertain Significance
957538 rs200808685 GRCh37: 1:209963840-209963840
GRCh38: 1:209790495-209790495
42 IRF6 NM_006147.4(IRF6):c.866T>C (p.Leu289Pro) SNV Uncertain Significance
1372197 GRCh37: 1:209964034-209964034
GRCh38: 1:209790689-209790689
43 IRF6 NM_006147.4(IRF6):c.921C>T (p.Ser307=) SNV Uncertain Significance
1409081 GRCh37: 1:209963979-209963979
GRCh38: 1:209790634-209790634
44 IRF6 NM_006147.4(IRF6):c.932T>C (p.Ile311Thr) SNV Uncertain Significance
1035083 rs2077863646 GRCh37: 1:209963968-209963968
GRCh38: 1:209790623-209790623
45 IRF6 NM_006147.4(IRF6):c.199_213dup (p.Tyr67_Val71dup) DUP Uncertain Significance
1042039 rs2077902226 GRCh37: 1:209969858-209969859
GRCh38: 1:209796513-209796514
46 IRF6 NM_006147.4(IRF6):c.169T>C (p.Phe57Leu) SNV Uncertain Significance
1043710 rs2077939791 GRCh37: 1:209974590-209974590
GRCh38: 1:209801245-209801245
47 IRF6 NM_006147.4(IRF6):c.726C>G (p.Thr242=) SNV Uncertain Significance
1486318 GRCh37: 1:209964174-209964174
GRCh38: 1:209790829-209790829
48 IRF6 NM_006147.4(IRF6):c.327G>C (p.Lys109Asn) SNV Uncertain Significance
1349516 GRCh37: 1:209969745-209969745
GRCh38: 1:209796400-209796400
49 IRF6 NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg) SNV Uncertain Significance
1463896 GRCh37: 1:209961769-209961769
GRCh38: 1:209788424-209788424
50 IRF6 NM_006147.4(IRF6):c.745T>C (p.Cys249Arg) SNV Uncertain Significance
1462384 GRCh37: 1:209964155-209964155
GRCh38: 1:209790810-209790810

Copy number variations for Van Der Woude Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 26163 1 197500000 222100000 Microdeletion van der Woude syndrome
2 26164 1 197500000 222100000 Microdeletion IRF6 van der Woude syndrome

Expression for Van Der Woude Syndrome

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

Pathways for Van Der Woude Syndrome

Pathways related to Van Der Woude Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.56 TP63 MSX1 IRF6
2 11.52 TGFB3 RIPK4 PAX9 MSX1
3 11.06 TP63 MSX1 FOXE1
4
Show member pathways
9.98 TP63 TGFB3 TFAP2A IRF6 ARHGAP29

GO Terms for Van Der Woude Syndrome

Cellular components related to Van Der Woude Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.7 VAX1 TP63 TFAP2A TBX22 PAX9 NHLH1

Biological processes related to Van Der Woude Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of DNA-templated transcription GO:0045892 10.32 TP63 TFAP2A TBX22 PAX9 MSX1 FOXE1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.26 GRHL1 GRHL2 GRHL3 IRF6 MSX1 NHLH1
3 positive regulation of DNA-templated transcription GO:0045893 10.25 FOXE1 GRHL2 GRHL3 IRF6 TBX22 TFAP2A
4 regulation of transcription by RNA polymerase II GO:0006357 10.23 FOXE1 GRHL1 GRHL2 GRHL3 IRF6 MSX1
5 stem cell proliferation GO:0072089 10.03 TP63 KDF1 IRF6
6 epidermis development GO:0008544 10.02 TP63 GRHL3 GRHL2 GRHL1
7 regulation of DNA-templated transcription GO:0006355 10.02 VAX1 TP63 TFAP2A TBX22 PAX9 MSX1
8 embryonic forelimb morphogenesis GO:0035115 9.99 TP63 TFAP2A MSX1
9 face morphogenesis GO:0060325 9.97 TGFB3 PAX9 MSX1
10 odontogenesis GO:0042476 9.93 TGFB3 PAX9 MSX1
11 keratinocyte proliferation GO:0043616 9.91 TP63 KDF1 IRF6
12 establishment of planar polarity GO:0001736 9.89 TP63 GRHL3
13 eyelid development in camera-type eye GO:0061029 9.88 TFAP2A GRHL3
14 negative regulation of keratinocyte differentiation GO:0045617 9.87 TP63 GRHL2
15 desmosome organization GO:0002934 9.85 NECTIN1 GRHL1
16 regulation of odontogenesis GO:0042481 9.83 MSX1 PAX9
17 cranial skeletal system development GO:1904888 9.8 TP63 IRF6 FOXE1
18 regulation of epidermal cell division GO:0010482 9.76 TP63 KDF1
19 establishment of skin barrier GO:0061436 9.56 TP63 KDF1 GRHL3 GRHL1
20 roof of mouth development GO:0060021 9.28 VAX1 TFAP2A MSX1 IRF6 FOXE1

Molecular functions related to Van Der Woude Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 10.31 VAX1 TFAP2A PAX9 NHLH1 MSX1 IRF6
2 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.3 FOXE1 GRHL1 GRHL2 GRHL3 IRF6 NHLH1
3 DNA binding GO:0003677 10.22 VAX1 TP63 TFAP2A TBX22 PAX9 NHLH1
4 RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0000977 10.16 TP63 TFAP2A TBX22 PAX9 NHLH1 MSX1
5 DNA-binding transcription factor activity GO:0003700 10.15 FOXE1 GRHL2 IRF6 PAX9 TBX22 TFAP2A
6 chromatin DNA binding GO:0031490 10.03 VAX1 GRHL3 GRHL2 GRHL1
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.03 FOXE1 GRHL1 GRHL2 GRHL3 IRF6 MSX1
8 sequence-specific DNA binding GO:0043565 10 TP63 TFAP2A MSX1 IRF6 GRHL3 GRHL2
9 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.58 TP63 TFAP2A PAX9 NHLH1 MSX1 IRF6

Sources for Van Der Woude Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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