ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Hepatoerythropoietic porphyria

Diaphyseal medullary stenosis - bone malignancy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UROD	(0.63)	MTAP

Citations in the biomedical literature:

Hepatoerythropoietic porphyria		Diaphyseal medullary stenosis - bone malignancy
	Synonym(s): - HEP		Synonym(s): - Bone dysplasia - medullary fibrosarcoma - Diaphyseal medullary stenosis - malignant fibrous histiocytoma - Hardcastle syndrome

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D017121		External references: 1 OMIM reference - 1 MeSH reference: C536169

Hepatoerythropoietic porphyria
	Very frequent - Autosomal dominant inheritance - Hemolytic anemia - Skin photosensitivity - Thin skin
Diaphyseal medullary stenosis - bone malignancy
(no data available)