Details of Disease | DrugMAP

General Information of Disease (ID: DISMI8EV)

Disease Name	Hepatic porphyria
Synonyms	porphyria, hepatic; hepatic Porphyrias; acute porphyria; acute hepatic porphyria; porphyria of liver; porphobilinogen synthase deficiency; liver porphyria; hepatic porphyria; Delta-aminolevulinate dehydratase deficiency; ALAD deficiency
Definition	A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Disease Hierarchy	DIS2OMMF: Liver disease DIS9YL4C: Porphyria DISMI8EV: Hepatic porphyria
Disease Identifiers	MONDO ID MONDO_0002520 MESH ID D017094 UMLS CUI C0162533 MedGen ID 58119 Orphanet ID 95157 SNOMED CT ID 55056006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALAD	TTJHKYD	Strong	Biomarker	[1]
FECH	TTQ6VF4	Strong	Genetic Variation	[2]
HMBS	TTT0HW3	Strong	Genetic Variation	[3]
PPOX	TTNFMS9	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPOX	OTIAY121	Strong	Biomarker	[4]
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References

1	Hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes.Eur J Clin Invest. 1991 Apr;21(2):244-8. doi: 10.1111/j.1365-2362.1991.tb01817.x.
2	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003-1059-5. Epub 2003 Dec 11.
3	De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.Physiol Res. 2006;55 Suppl 2:S145-154. doi: 10.33549/physiolres.930000.55.S2.145.
4	Hexachlorobenzene treatment on hepatic mitochondrial function parameters and intracellular coproporphyrinogen oxidase location.Int J Toxicol. 2008 Nov;27(6):455-65. doi: 10.1080/10915810802657002.