ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

3 OMIM references -
2 associated genes
7 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

Van der Woude syndrome

IRF8	(UniProt - OMIM)		GRHL3	(UniProt - OMIM)
			IRF6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IRF8	(0.75)	IRF6

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency		Van der Woude syndrome
	Synonym(s): - MSMD due to partial IRF8 deficiency - MSMD due to partial interferon regulatory factor 8 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency		Synonym(s): - Cleft lip and/or palate with mucous cysts of lower lip - Lip-pit syndrome - VWS

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C536528


COMMON SIGNS	- Autosomal dominant inheritance

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency		Van der Woude syndrome
	Very frequent - Fever / chilling - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lymphadenopathy / polyadenopathies		Very frequent - Lip pits / fistulae Frequent - Cleft lip and palate - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Lateral cleft lip / gingival cleft / paramedian nasal cleft Occasional - Anodontia / oligodontia / hypodontia - Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct