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Congenital erythropoietic porphyria
1 OMIM reference -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
Isolated delta-storage pool disease
2 associated genes
No signs/symptoms info
Congenital erythropoietic porphyria
Isolated delta-storage pool disease

GATA1
(UniProt - OMIM)
 FLI1
(UniProt - OMIM)
UROS
(UniProt - OMIM)
 RUNX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GATA1
(0.9)
FLI1


Citations in the biomedical literature:


Congenital erythropoietic porphyria
GATA1 UROS
Isolated delta-storage pool disease
FLI1 RUNX1



Congenital erythropoietic porphyria
Isolated delta-storage pool disease

Synonym(s):
- CEP
- Günther disease
Synonym(s):
- Isolated delta-SPD
- Isolated dense-SPD
- Isolated dense-storage pool disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
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


Isolated delta-storage pool disease

(no data available)