Details of Disease

General Information of Disease (ID: DIS9YL4C)

• Disease Name: Porphyria
• Synonyms: porphyria
• Disease Class: 5C58: Inborn porphyrin/heme metabolism error
• Definition: Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.|Represents both genetic and sporadic forms
• Disease Hierarchy:
  DISBNF2N: Porphyrin metabolism disease
  DIS9YL4C: Porphyria
• ICD Code:
  ICD-11: ICD-11: 5C58.1
  ICD-10: ICD-10: E80.2
  ICD-9: ICD-9: 277.1
  Expand ICD-11: '5C58.1
  Expand ICD-10: 'E80.2
  Expand ICD-9: 277.1
• Disease Identifiers:
  MONDO ID: MONDO_0037939
  MESH ID: D011164
  UMLS CUI: C0032708
  MedGen ID: 10865
  SNOMED CT ID: 29094004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Haem arginate	DMYRXZQ	Approved	Small molecular drug	[1]

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
P-9808	DMG8NLI	Phase 2	NA	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PPOX	TTNFMS9	Limited	Genetic Variation	[3]
ALAD	TTJHKYD	Strong	Biomarker	[4]
ALAS1	TTG1FXO	Strong	Genetic Variation	[5]
FECH	TTQ6VF4	Strong	Genetic Variation	[6]
HMBS	TTT0HW3	Strong	Altered Expression	[7]
SLC15A2	TT27Q3A	Strong	Biomarker	[8]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPOX	OTIAY121	Strong	Genetic Variation	[3]
GBE1	OTK2N05B	Strong	Genetic Variation	[9]
HFE	OTDD93KB	Strong	Genetic Variation	[10]

References

• [1] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [2] ClinicalTrials.gov (NCT00418795) Porphozym in the Treatment of Acute Attacks in AIP. U.S. National Institutes of Health.
• [3] Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.J Invest Dermatol. 2011 Nov;131(11):2249-54. doi: 10.1038/jid.2011.186. Epub 2011 Jul 7.
• [4] Drugs and acute porphyrias: reasons for a hazardous relationship.Postgrad Med. 2014 Nov;126(7):108-20. doi: 10.3810/pgm.2014.11.2839.
• [5] Regulation and tissue-specific expression of -aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.Mol Genet Metab. 2019 Nov;128(3):190-197. doi: 10.1016/j.ymgme.2019.01.015. Epub 2019 Jan 23.
• [6] Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.Br J Dermatol. 2016 Jan;174(1):172-5. doi: 10.1111/bjd.14078. Epub 2015 Nov 7.
• [7] Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.Hum Mol Genet. 2013 Jul 15;22(14):2929-40. doi: 10.1093/hmg/ddt148. Epub 2013 Apr 5.
• [8] A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.J Am Soc Nephrol. 2017 Jun;28(6):1924-1932. doi: 10.1681/ASN.2016080918. Epub 2016 Dec 28.
• [9] Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET.Nat Commun. 2019 Nov 29;10(1):5463. doi: 10.1038/s41467-019-13237-8.
• [10] Porphyria cutanea tarda: Recent update.Mol Genet Metab. 2019 Nov;128(3):271-281. doi: 10.1016/j.ymgme.2019.01.004. Epub 2019 Jan 18.