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Inherited porphyria

MedGen UID:
698423
Concept ID:
C1275125
Disease or Syndrome
Synonyms: disorder of porphyrin and hem metabolism; Hematoporphyria; hereditary porphyria; Inherited disorder of porphyrin metabolism; inherited porphyria; Porphyria; Porphyrinopathy
SNOMED CT: Inherited disorder of porphyrin metabolism (403832004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0019142
Orphanet: ORPHA738

Definition

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited porphyria

Professional guidelines

PubMed

Whatley SD, Badminton MN
Ann Clin Biochem 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. PMID: 23605133

Recent clinical studies

Etiology

Coffey A, Leung DH, Quintanilla NM
Pediatrics 2018 Apr;141(Suppl 5):S445-S450. doi: 10.1542/peds.2016-1625. PMID: 29610169
Whatley SD, Badminton MN
Ann Clin Biochem 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. PMID: 23605133
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC
J Inherit Metab Dis 2013 Sep;36(5):849-57. Epub 2012 Nov 1 doi: 10.1007/s10545-012-9544-4. PMID: 23114748
Pischik E, Kazakov V, Kauppinen R
J Neurol 2008 Jul;255(7):974-9. Epub 2008 Jun 27 doi: 10.1007/s00415-008-0779-9. PMID: 18574620

Diagnosis

Snast I, Kaftory R, Sherman S, Edel Y, Hodak E, Levi A, Lapidoth M
Photodermatol Photoimmunol Photomed 2020 Jan;36(1):29-33. Epub 2019 Aug 21 doi: 10.1111/phpp.12501. PMID: 31374130
Coffey A, Leung DH, Quintanilla NM
Pediatrics 2018 Apr;141(Suppl 5):S445-S450. doi: 10.1542/peds.2016-1625. PMID: 29610169
Whatley SD, Badminton MN
Ann Clin Biochem 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. PMID: 23605133
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC
J Inherit Metab Dis 2013 Sep;36(5):849-57. Epub 2012 Nov 1 doi: 10.1007/s10545-012-9544-4. PMID: 23114748
Grob U, Puy H, Jacob K, Deybach JC, Kremer J, Doss MO
J Inherit Metab Dis 2006 Feb;29(1):157-61. doi: 10.1007/s10545-006-0155-9. PMID: 16601882

Therapy

Snast I, Kaftory R, Sherman S, Edel Y, Hodak E, Levi A, Lapidoth M
Photodermatol Photoimmunol Photomed 2020 Jan;36(1):29-33. Epub 2019 Aug 21 doi: 10.1111/phpp.12501. PMID: 31374130
Coffey A, Leung DH, Quintanilla NM
Pediatrics 2018 Apr;141(Suppl 5):S445-S450. doi: 10.1542/peds.2016-1625. PMID: 29610169

Prognosis

Whatley SD, Badminton MN
Ann Clin Biochem 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. PMID: 23605133
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC
J Inherit Metab Dis 2013 Sep;36(5):849-57. Epub 2012 Nov 1 doi: 10.1007/s10545-012-9544-4. PMID: 23114748
Wu C, Xu W, Kozak CA, Desnick RJ
Mamm Genome 1996 May;7(5):349-52. doi: 10.1007/s003359900101. PMID: 8661721
Warner CA, Yoo HW, Roberts AG, Desnick RJ
J Clin Invest 1992 Feb;89(2):693-700. doi: 10.1172/JCI115637. PMID: 1737856Free PMC Article

Clinical prediction guides

Whatley SD, Badminton MN
Ann Clin Biochem 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. PMID: 23605133
Camagna A, Del Duca P, Petrinelli P, Borelli LG, Ciancio L, Cipollone L, Misasi G, Manfredi MR, Dionisi S, de Martinis C
Am J Med Sci 1998 Jan;315(1):59-62. doi: 10.1097/00000441-199801000-00011. PMID: 9427577
Wu C, Xu W, Kozak CA, Desnick RJ
Mamm Genome 1996 May;7(5):349-52. doi: 10.1007/s003359900101. PMID: 8661721
Warner CA, Yoo HW, Roberts AG, Desnick RJ
J Clin Invest 1992 Feb;89(2):693-700. doi: 10.1172/JCI115637. PMID: 1737856Free PMC Article

Recent systematic reviews

Snast I, Kaftory R, Sherman S, Edel Y, Hodak E, Levi A, Lapidoth M
Photodermatol Photoimmunol Photomed 2020 Jan;36(1):29-33. Epub 2019 Aug 21 doi: 10.1111/phpp.12501. PMID: 31374130

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