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Hereditary recurrent myoglobinuria

MedGen UID:
901659
Concept ID:
C4274324
Finding
Synonym: Genetic recurrent myoglobinuria
SNOMED CT: Genetic recurrent myoglobinuria (716721003)
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.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0020504
Orphanet: ORPHA99845

Definition

An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary recurrent myoglobinuria

Recent clinical studies

Etiology

Barca E, Emmanuele V, DiMauro SB
Curr Neurol Neurosci Rep 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9. PMID: 26319173
Lamari F, Mochel F, Sedel F, Saudubray JM
J Inherit Metab Dis 2013 May;36(3):411-25. Epub 2012 Jul 20 doi: 10.1007/s10545-012-9509-7. PMID: 22814679

Diagnosis

Shukla SG, Verma A
Neurol India 2020 Jan-Feb;68(1):182-184. doi: 10.4103/0028-3886.279697. PMID: 32129275
Barca E, Emmanuele V, DiMauro SB
Curr Neurol Neurosci Rep 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9. PMID: 26319173
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R
Orphanet J Rare Dis 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. PMID: 25929793Free PMC Article
Lamari F, Mochel F, Sedel F, Saudubray JM
J Inherit Metab Dis 2013 May;36(3):411-25. Epub 2012 Jul 20 doi: 10.1007/s10545-012-9509-7. PMID: 22814679
DiMauro S, Lamperti C
Muscle Nerve 2001 Aug;24(8):984-99. doi: 10.1002/mus.1103. PMID: 11439374

Prognosis

Arélin M, Zierz S, Ceglarek U, Heinemann M, Beblo S, Merkenschlager A
Neuropediatrics 2020 Feb;51(1):53-56. Epub 2019 Sep 21 doi: 10.1055/s-0039-1694977. PMID: 31541997
Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F
Pediatr Neurol 2000 Feb;22(2):98-105. doi: 10.1016/s0887-8994(99)00132-0. PMID: 10738914

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