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	van der woude syndrome

Disease ID	294
Disease	van der woude syndrome
Definition	A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities.
Synonym	cleft lip and-or palate with mucous cysts of lower lip cleft lip and/or palate with mucous cysts of lower lip der syndrome van woudes lip pit syndrome lip-pit syndrome lip-pit-cleft lip syndrome pit van der woude syndrome (disorder) van der woude syndrome 1 van der woude's syndrome vdws vws1
Orphanet	ORPHANET:888
OMIM	OMIM:119300
DOID	DOID:0060239
UMLS	C0175697
SNOMED-CT	SNOMEDCT_US_2016_09_01:79261008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 57822 \| GRHL3 \| ORPHANET 3664 \| IRF6 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3664 \| IRF6 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 1063 \| CENPF \| 2.281 \| DISEASES 6900 \| CNTN2 \| 2.752 \| DISEASES 2304 \| FOXE1 \| 1.532 \| DISEASES 50486 \| G0S2 \| 2.503 \| DISEASES 2737 \| GLI3 \| 1.107 \| DISEASES 2932 \| GSK3B \| 1.686 \| DISEASES 3663 \| IRF5 \| 1.507 \| DISEASES 3664 \| IRF6 \| 7.874 \| DISEASES 3714 \| JAG2 \| 1.768 \| DISEASES 128209 \| KLF17 \| 3.051 \| DISEASES 3914 \| LAMB3 \| 1.97 \| DISEASES 8481 \| OFD1 \| 2.341 \| DISEASES 83695 \| RHNO1 \| 1.004 \| DISEASES 54101 \| RIPK4 \| 2.844 \| DISEASES 2810 \| SFN \| 2.388 \| DISEASES 9901 \| SRGAP3 \| 2.763 \| DISEASES 6427 \| SRSF2 \| 1.594 \| DISEASES 79718 \| TBL1XR1 \| 2.243 \| DISEASES 7020 \| TFAP2A \| 2.715 \| DISEASES 7042 \| TGFB2 \| 1.792 \| DISEASES 113452 \| TMEM54 \| 2.045 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) IRF6 \| 1q32.2 GRHL3 \| 1p36.11

Disease ID	294
Disease	van der woude syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0000175 \| Cleft palate HP:0010286 \| Abnormality of the salivary glands HP:0000204 \| Cleft upper lip HP:0000196 \| Lower lip pit HP:0000193 \| Uvula bifida HP:0000668 \| Hypodontia HP:0100267 \| Lip pit HP:0000175 \| Palatoschisis HP:0000668 \| Failure of development of between one and six teeth
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0100267 \| Lip pit \| 4 HP:0000196 \| Lower lip pit \| 2

Disease ID	294
Disease	van der woude syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0679466 \| cognitive deficits
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
IRF6	Het del whole gene	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:19)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434224	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209796453	C	A
rs121434228	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209789709	C	T
rs121434229	14618417	3664	IRF6	umls:C0175697	UNIPROT	Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.	0.575396242	2003	IRF6	1	209801280	C	T
rs121434229	14618417	3664	IRF6	umls:C0175697	BeFree	Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.	0.575396242	2003	IRF6	1	209801280	C	T
rs121434229	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209801280	C	T
rs121434230	14618417	3664	IRF6	umls:C0175697	BeFree	Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.	0.575396242	2003	IRF6	1	209788638	G	A
rs121434230	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209788638	G	A
rs121434231	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209790539	C	A
rs200166664	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209788625	C	A,G,T
rs28942093	12219090	3664	IRF6	umls:C0175697	UNIPROT	The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32-q41 (refs 2,3).	0.575396242	2002	IRF6	1	209801409	G	A
rs28942093	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209801409	G	A
rs28942094	12920575	3664	IRF6	umls:C0175697	UNIPROT	Novel mutations in the IRF6 gene for Van der Woude syndrome.	0.575396242	2003	IRF6	1	209801398	G	A
rs28942094	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209801398	G	A
rs28942095	12920575	3664	IRF6	umls:C0175697	UNIPROT	Novel mutations in the IRF6 gene for Van der Woude syndrome.	0.575396242	2003	IRF6	1	209788626	G	A
rs28942095	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209788626	G	A
rs387906967	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209801349	A	G
rs397515434	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209801269	G	A
rs587776569	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209790667	GTCCAGCAGCTTGCTAGTG	T
rs769068305	NA	3664	IRF6	umls:C0175697	CLINVAR	NA	0.575396242	NA	IRF6	1	209788614	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000204	Cleft upper lip	MP:0005170	cleft upper lip	defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences
HP:0000175	Cleft palate	MP:0013550	abnormal secondary palate morphology
HP:0010286	Abnormality of the salivary glands	MP:0009657	failure of chorioallantoic fusion	failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0000196	Lower lip pit	MP:0006306	abnormal nasal pit morphology	any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal proces

Mapped by homologous gene(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000193	Bifid uvula	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0010286	Abnormality of the salivary glands	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0100267	Lip pit	MP:0013818	abnormal oral cavity morphology	any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth
HP:0000204	Cleft upper lip	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000175	Cleft palate	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000668	Hypodontia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000196	Lower lip pit	MP:0013818	abnormal oral cavity morphology	any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth

Disease ID	294
Disease	van der woude syndrome
Case	(Waiting for update.)