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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
7 signs/symptoms
Primary biliary cirrhosis
Van der Woude syndrome

IL12A GRHL3
IL12RB1 IRF6
IRF5
MMEL1
POU2AF1
SPIB
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF5
(0.72)
IRF6



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Van der Woude syndrome
GRHL3 IRF6



Primary biliary cirrhosis
Van der Woude syndrome

Synonym(s):
- Hanot syndrome

Synonym(s):
- Cleft lip and/or palate with mucous cysts of lower lip
- Lip-pit syndrome
- VWS

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

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
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:
5 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C536528

Van der Woude syndrome

Very frequent
- Autosomal dominant inheritance
- 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


Primary biliary cirrhosis

(no data available)