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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
14 signs/symptoms
Primary biliary cirrhosis
Congenital erythropoietic porphyria

IL12A GATA1
IL12RB1 UROS
IRF5
MMEL1
POU2AF1
SPIB
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SPIB
(0.56)
GATA1



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Congenital erythropoietic porphyria
GATA1 UROS



Primary biliary cirrhosis
Congenital erythropoietic porphyria

Synonym(s):
- Hanot syndrome

Synonym(s):
- CEP
- G√ľnther disease

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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 / 1 000 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Congenital erythropoietic porphyria

Very frequent
- Abnormal colour of the urine / cholic / dark urines
- Auto-aggressivity / auto-mutilation
- Autosomal recessive inheritance
- Dental staining anomaly / spotted teeth / erythrodontia
- Hemolytic anemia
- Hirsutism / hypertrichosis / Increased body hair
- Porphyrins metabolism anomalies / porphyria
- Skin photosensitivity
- Splenomegaly
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Thrombocytopenia / thrombopenia


Primary biliary cirrhosis

(no data available)