Details of Disease

General Information of Disease (ID: DISEPFG2)

Disease Name Inherited porphyria
Synonyms Porphyrinopathy; Hematoporphyria; disorder of porphyrin metabolism; porphyria; disorder of porphyrin and heme metabolism; disorder of porphyrin and hem metabolism; hereditary porphyria
Definition
Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.|Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic
Disease Hierarchy
DIS9YL4C: Porphyria
DISZUIKC: Inborn disorder of porphyrin metabolism
DISYJQB2: Hereditary photodermatosis
DISEPFG2: Inherited porphyria
Disease Identifiers
MONDO ID
MONDO_0019142
UMLS CUI
C1275125
MedGen ID
698423
Orphanet ID
738
SNOMED CT ID
403832004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FECH TTQ6VF4 moderate Altered Expression [1]
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References

1 Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.Mol Med. 2009 Nov-Dec;15(11-12):425-31. doi: 10.2119/molmed.2009.00006. Epub 2009 Aug 12.