ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
7 signs/symptoms

Congenital erythropoietic porphyria

Beta-thalassemia - X-linked thrombocytopenia

GATA1	(UniProt - OMIM)		GATA1	(UniProt - OMIM)
UROS	(UniProt - OMIM)

Citations in the biomedical literature:

Congenital erythropoietic porphyria		Beta-thalassemia - X-linked thrombocytopenia
	Synonym(s): - CEP - GÃ¼nther disease		Synonym(s): - XLTT

	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: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: x-linked recessive

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


COMMON SIGNS	- Splenomegaly - Thrombocytopenia / thrombopenia

Congenital erythropoietic porphyria		Beta-thalassemia - X-linked thrombocytopenia
	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 - 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		Very frequent - Anaemia - Hemoglobinosis / hemoglobinopathy - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Platelets function anomaly - X-linked recessive inheritance