ODCs

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1 OMIM reference -
1 associated gene
2 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
14 signs/symptoms

Paris-Trousseau thrombocytopenia

Congenital erythropoietic porphyria

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


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

Citations in the biomedical literature:

Paris-Trousseau thrombocytopenia		Congenital erythropoietic porphyria
	Synonym(s): (no synonyms)		Synonym(s): - CEP - GÃ¼nther disease

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		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: 1 OMIM reference - 1 MeSH reference: C538617		External references: 1 OMIM reference - No MeSH references

Paris-Trousseau thrombocytopenia		Congenital erythropoietic porphyria
	Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Structural anomalies of the cardio-circulatory system		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