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PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant popliteal pterygium syndrome

IRF8 IRF6


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
IRF8
Autosomal dominant popliteal pterygium syndrome
IRF6



Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant popliteal pterygium 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):
- Facio-genito-popliteal syndrome
- Popliteal web syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare immune 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 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 / 1 000 000
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:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant popliteal pterygium syndrome

Very frequent
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies



Very frequent
- 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