Van Der Woude Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Endocrine diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations of the digestive system

Other congenital malformations of tongue, mouth and pharynx

Congenital malformations of lips, not elsewhere classified

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0060239

MeSH ⁴³ C536528 C563529

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

SNOMED-CT via HPO ⁶⁹ 10890000 63567004 64969001 more

UMLS ⁷¹ C0175697 C1834339

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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...

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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:

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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

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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

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Genetic Tests for Van Der Woude Syndrome

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Anatomical Context for Van Der Woude Syndrome

Organs/tissues related to Van Der Woude Syndrome:

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

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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	de Lima RL...Schutte BC	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	Little HJ...Shore P	19036739	2009
3	A familial case of popliteal pterygium syndrome. ⁵³ ⁶² ⁵	Bertele G...Carletti V	18617879	2008
4	Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. ⁵³ ⁶² ⁵	Kondo S...Murray JC	12219090	2002
5	Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. ⁶² ⁵	Li S...Sun C	29115498	2018
6	Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. ⁶² ⁵	Kwa MQ...Scholz GM	25784454	2015
7	Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family. ⁶² ⁵	Manjegowda DS...Ramachandra NB	25579819	2014
8	Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. ⁶² ⁵	Leslie EJ...Murray JC	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	Leslie EJ...Murray JC	23154523	2013
10	Novel IRF6 mutations in Honduran Van der Woude syndrome patients. ⁶² ⁵	Birkeland AC...Haddad J	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	Desmyter L...Vikkula M	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	Houweling AC...Lachmeijer AM	19623037	2009
13	Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model. ⁵	Li EB...Liao EC	28945736	2017
14	Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. ⁵	Ratbi I...Sefiani A	25547932	2014
15	Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. ⁵	Mubungu G...Devriendt K	25548624	2014
16	EEC syndrome-like phenotype in a patient with an IRF6 mutation. ⁵	Kosaki R...Kosaki K	22488974	2012
17	Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. ⁵	Peyrard-Janvid M...Kere J	16160700	2005
18	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	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	Ferrero GB...Silengo MC	19536562	2010
20	Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. ⁵³ ⁶²	Yeetong P...Shotelersuk V	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	Diercks GR...Haddad J	19536891	2009
22	Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India. ⁵³ ⁶²	Ali A...Raman R	19929101	2009
23	Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure. ⁵³ ⁶²	Donepudi SK...Thompson JW	19368978	2009
24	Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome. ⁵³ ⁶²	Paranaiba LM...Coletta RD	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	Jugessur A...Murray JC	18278815	2008
26	A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. ⁵³ ⁶²	de Medeiros F...Jakobsen LP	18478600	2008
27	Identification of IRF6 gene variants in three families with Van der Woude syndrome. ⁵³ ⁶²	Tan EC...Yeow V	18506368	2008
28	Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. ⁵³ ⁶²	Osoegawa K...de Jong PJ	17873121	2008
29	A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. ⁵³ ⁶²	Brosch S...Pfister M	17549393	2007
30	Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. ⁵³ ⁶²	Park JW...Beaty TH	17438386	2007
31	Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch. ⁵³ ⁶²	Richardson RJ...Dixon MJ	17041603	2006
32	Novel IRF6 mutations in Chinese patients with Van der Woude syndrome. ⁵³ ⁶²	Du X...Tang Y	16998136	2006
33	Developmental expression analysis of the mouse and chick orthologues of IRF6: the gene mutated in Van der Woude syndrome. ⁵³ ⁶²	Knight AS...Dixon MJ	16245336	2006
34	[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome]. ⁵³ ⁶²	Du XY...Zheng XH	16456794	2006
35	Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome. ⁵³ ⁶²	Ye XQ...Bian Z	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	Ghassibe M...Vikkula M	16132054	2005
37	Variation in IRF6 contributes to nonsyndromic cleft lip and palate. ⁵³ ⁶²	Blanton SH...Hecht JT	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	Ben J...Chong SS	15939375	2005
39	[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province]. ⁵³ ⁶²	Wang XF...Kong XY	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	Item CB...Ewers R	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	Scapoli L...Carinci F	15558496	2005
42	Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. ⁵³ ⁶²	Matsuzawa N...Niikawa N	15472655	2004
43	A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome. ⁵³ ⁶²	Gatta V...Stuppia L	15013698	2004
44	Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome. ⁵³ ⁶²	Kim Y...Yoo HW	12964020	2003
45	Novel mutations in the IRF6 gene for Van der Woude syndrome. ⁵³ ⁶²	Wang X...Kong X	12920575	2003
46	A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. ⁵³ ⁶²	Shotelersuk V...Niikawa N	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	Kayano S...Matsubara Y	14618417	2003
48	Revealing the interlayer van der Waals coupling of bi-layer and tri-layer MoS2 using terahertz coherent phonon spectroscopy. ⁶²	Wang PJ...Sun CK	36281319	2022
49	Ultralow-Loss Phonon Polaritons in the Isotope-Enriched α-MoO3. ⁶²	Zhao Y...Chen J	36343338	2022
50	Self-Powered Bidirectional Photoresponse in High-Detectivity WSe2 Phototransistor with Asymmetrical van der Waals Stacking for Retinal Neurons Emulation. ⁶²	Zhang Y...Hu H	36413009	2022

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Genes for Van Der Woude Syndrome

Genes related to Van Der Woude Syndrome (2 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IRF6	Interferon Regulatory Factor 6	Protein Coding	838.4	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	12219090 16160700 18617879 (more) 19036739 19282774 19623037 21045959 21468557 22488974 23154523 23949966 25547932 25548624 25784454 28945736 29115498 16199547 25579819 19929101 12920575 14618417 15647839 19536562 15995766 16456794 15558496 17438386 15317890 16998136 18478600 16096995 15939375 15472655 18813858 18278815 17873121 19842205 19536891 16211254 15013698 12632105 19368978 18506368 17041603 16132054 17549393 16245336 12964020
2	GRHL3	Grainyhead Like Transcription Factor 3	Protein Coding	376.24	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	24360809
3	CFAP57	Cilia And Flagella Associated Protein 57	Protein Coding	25.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
4	VWSM	Van Der Woude Syndrome Modifier	Genetic Locus	18.52	GeneCards inferred via : Publications Gene name (show sections)
5	MSX1	Msh Homeobox 1	Protein Coding	7.07	DISEASES inferred ¹⁴
6	ARHGAP29	Rho GTPase Activating Protein 29	Protein Coding	6.78	DISEASES inferred ¹⁴
7	TBX22	T-Box Transcription Factor 22	Protein Coding	6.76	DISEASES inferred ¹⁴
8	VAX1	Ventral Anterior Homeobox 1	Protein Coding	6.62	DISEASES inferred ¹⁴
9	FOXE1	Forkhead Box E1	Protein Coding	6.52	DISEASES inferred ¹⁴
10	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	6.35	DISEASES inferred ¹⁴
11	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	6.29	DISEASES inferred ¹⁴
12	RIPK4	Receptor Interacting Serine/Threonine Kinase 4	Protein Coding	6.24	DISEASES inferred ¹⁴
13	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	6.14	DISEASES inferred ¹⁴
14	PAX9	Paired Box 9	Protein Coding	6.13	DISEASES inferred ¹⁴
15	TP63	Tumor Protein P63	Protein Coding	5.88	DISEASES inferred ¹⁴
16	GRHL1	Grainyhead Like Transcription Factor 1	Protein Coding	5.81	DISEASES inferred ¹⁴
17	GRHL2	Grainyhead Like Transcription Factor 2	Protein Coding	5.79	DISEASES inferred ¹⁴
18	NHLH1	Nescient Helix-Loop-Helix 1	Protein Coding	5.69	DISEASES inferred ¹⁴
19	KDF1	Keratinocyte Differentiation Factor 1	Protein Coding	5.69	DISEASES inferred ¹⁴
20	MIR4796	MicroRNA 4796	RNA Gene	5.64	DISEASES inferred ¹⁴
21	TBX10	T-Box Transcription Factor 10	Protein Coding	5.64	DISEASES inferred ¹⁴
22	CRISPLD2	Cysteine Rich Secretory Protein LCCL Domain Containing 2	Protein Coding	5.56	DISEASES inferred ¹⁴
23	BMP4	Bone Morphogenetic Protein 4	Protein Coding	5.55	DISEASES inferred ¹⁴
24	ZNF236	Zinc Finger Protein 236	Protein Coding	5.48	DISEASES inferred ¹⁴
25	FGF8	Fibroblast Growth Factor 8	Protein Coding	5.47	DISEASES inferred ¹⁴
26	PHF8	PHD Finger Protein 8	Protein Coding	5.46	DISEASES inferred ¹⁴
27	LHX8	LIM Homeobox 8	Protein Coding	5.46	DISEASES inferred ¹⁴
28	HR	HR Lysine Demethylase And Nuclear Receptor Corepressor	Protein Coding	5.44	DISEASES inferred ¹⁴
29	CLPTM1	CLPTM1 Regulator Of GABA Type A Receptor Forward Trafficking	Protein Coding	5.38	DISEASES inferred ¹⁴
30	TDRP	Testis Development Related Protein	Protein Coding	5.26	DISEASES inferred ¹⁴
31	WNT9B	Wnt Family Member 9B	Protein Coding	5.24	DISEASES inferred ¹⁴
32	SPRY2	Sprouty RTK Signaling Antagonist 2	Protein Coding	5.19	DISEASES inferred ¹⁴
33	TGFA	Transforming Growth Factor Alpha	Protein Coding	5.16	DISEASES inferred ¹⁴
34	SPECC1L	Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like	Protein Coding	5.16	DISEASES inferred ¹⁴

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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

Sources

Expression for Van Der Woude Syndrome

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

Sources

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	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.56	TP63 MSX1 IRF6
2	Wnt / Hedgehog / Notch ³	11.52	TGFB3 RIPK4 PAX9 MSX1
3	Hair follicle development: cytodifferentiation - part 3 of 3 ⁷⁴	11.06	TP63 MSX1 FOXE1
4	Hypothetical craniofacial development pathway ⁷⁴ Show member pathways p63 transcription factor network ⁶¹	9.98	TP63 TGFB3 TFAP2A IRF6 ARHGAP29

Sources

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

Sources for Van Der Woude Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

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⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

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²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LPS MCID: VND002 MIFTS: 52	Van Der Woude Syndrome (LPS) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Van Der Woude Syndrome (LPS)

Aliases & Classifications for Van Der Woude Syndrome

MalaCards integrated aliases for Van Der Woude Syndrome:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Van Der Woude Syndrome

Related Diseases for Van Der Woude Syndrome

Diseases in the Van Der Woude Syndrome family:

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

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

Symptoms & Phenotypes for Van Der Woude Syndrome

Human phenotypes related to Van Der Woude Syndrome:

MGI Mouse Phenotypes related to Van Der Woude Syndrome:

Drugs & Therapeutics for Van Der Woude Syndrome

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

Genetic Tests for Van Der Woude Syndrome

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Genes for Van Der Woude Syndrome

Genes related to Van Der Woude Syndrome (2 elite genes):

Variations for Van Der Woude Syndrome

ClinVar genetic disease variations for Van Der Woude Syndrome:

Copy number variations for Van Der Woude Syndrome from CNVD:

Expression for Van Der Woude Syndrome

Pathways for Van Der Woude Syndrome

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

GO Terms for Van Der Woude Syndrome

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

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

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

Sources for Van Der Woude Syndrome