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Term ID: | 9152 |
Name: | Porphyrias |
Definition: | A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. |
Alternative IDs: | |
ParentIDs: | MESH:D008659|MESH:D008661|MESH:D012875 |
TreeNumbers: | C16.320.565.708 |C17.800.849.617 |C18.452.648.708 |C18.452.811 |C18.452.880.617 |
Synonyms: | Disorder, Porphyrin |Disorders, Porphyrin |Porphyria |Porphyrin Disorder |Porphyrin Disorders |
Slim Mappings: | Genetic disease (inborn)|Metabolic disease|Skin disease |
Reference: |
MedGen: D011164
MeSH: D011164
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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