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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
Primary biliary cirrhosis
Autosomal dominant popliteal pterygium syndrome

IL12A IRF6
IL12RB1
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
Autosomal dominant popliteal pterygium syndrome
IRF6



Primary biliary cirrhosis
Autosomal dominant popliteal pterygium syndrome

Synonym(s):
- Hanot syndrome

Synonym(s):
- Facio-genito-popliteal syndrome
- Popliteal web syndrome

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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 / 1 000 000
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:
1 OMIM reference -
No MeSH references

Autosomal dominant popliteal pterygium syndrome

Very frequent
- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hirsutism / hypertrichosis / Increased body hair
- Micrognathia / retrognathia / micrognathism / retrognathism
- Restricted joint mobility / joint stiffness / ankylosis
- Syndactyly of toes
- Thin / retracted lips

Frequent
- Anomalies of the ribs
- Bifid scrotum
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved toenails
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Lip pits / fistulae
- Nails anomalies
- Oral synechiae / abnormal frenulae
- Popliteal web
- Scoliosis
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Ambiguous genitalia
- Choanal atresia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oligodactyly / ectrodactyly of fingers


Primary biliary cirrhosis

(no data available)