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Autosomal dominant myoglobinuria

MedGen UID:: 320384
•Concept ID:: C1834567
•: Disease or Syndrome

Synonym:	Myoglobinuria, Autosomal Dominant
SNOMED CT:	Autosomal dominant myoglobinuria (725903003)
Modes of inheritance:	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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0008046
OMIM®:	160010
Orphanet:	ORPHA99846

Definition

A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. [from SNOMEDCT_US]

Clinical features

From HPO

Myalgia

MedGen UID:: 68541
•Concept ID:: C0231528
•: Sign or Symptom

Pain in muscle.

See: Feature record | Search on this feature

Hereditary myoglobinuria

MedGen UID:: 44557
•Concept ID:: C0027080
•: Finding

Presence of myoglobin in the urine.

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Acute kidney injury

MedGen UID:: 388570
•Concept ID:: C2609414
•: Injury or Poisoning

Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).

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Muscle weakness

MedGen UID:: 57735
•Concept ID:: C0151786
•: Finding

Reduced strength of muscles.

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Elevated circulating creatine kinase concentration

MedGen UID:: 69128
•Concept ID:: C0241005
•: Finding

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

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Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Abnormality of the genitourinary system
- Acute kidney injury
- Hereditary myoglobinuria
Abnormality of the musculoskeletal system
- Muscle weakness
Constitutional symptom
- Myalgia

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant myoglobinuria

Lipid storage myopathy
- Autosomal dominant myoglobinuria

Follow this link to review classifications for Autosomal dominant myoglobinuria in Orphanet.

Recent clinical studies

Diagnosis

Malignant hyperthermia.

Wappler F
Eur J Anaesthesiol 2001 Oct;18(10):632-52. doi: 10.1046/j.1365-2346.2001.00888.x. PMID: 11553240

Early recognition of unsuspected malignant hyperthermia and successful management of serve myoglobinuric renal failure in subsequent rhabdomyolysis: a case report.

Lee CH, Lam KK, Fung ST, Lee CT, Hsu KT
Changgeng Yi Xue Za Zhi 1998 Jun;21(2):211-6. PMID: 9729658

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).

Tsujino S, Shanske S, DiMauro S
N Engl J Med 1993 Jul 22;329(4):241-5. doi: 10.1056/NEJM199307223290404. PMID: 8316268

See all (3)

Therapy

Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia.

Melberg A, Holme E, Oldfors A, Lundberg PO
Neurology 1998 Jan;50(1):299-300. doi: 10.1212/wnl.50.1.299. PMID: 9443501

See all (1)

Prognosis

Early recognition of unsuspected malignant hyperthermia and successful management of serve myoglobinuric renal failure in subsequent rhabdomyolysis: a case report.

Lee CH, Lam KK, Fung ST, Lee CT, Hsu KT
Changgeng Yi Xue Za Zhi 1998 Jun;21(2):211-6. PMID: 9729658

Disorders associated with multiple deletions of mitochondrial DNA.

Haltia M, Suomalainen A, Majander A, Somer H
Brain Pathol 1992 Apr;2(2):133-9. doi: 10.1111/j.1750-3639.1992.tb00681.x. PMID: 1341954

See all (2)

Clinical prediction guides

Early recognition of unsuspected malignant hyperthermia and successful management of serve myoglobinuric renal failure in subsequent rhabdomyolysis: a case report.

Lee CH, Lam KK, Fung ST, Lee CT, Hsu KT
Changgeng Yi Xue Za Zhi 1998 Jun;21(2):211-6. PMID: 9729658

Disorders associated with multiple deletions of mitochondrial DNA.

Haltia M, Suomalainen A, Majander A, Somer H
Brain Pathol 1992 Apr;2(2):133-9. doi: 10.1111/j.1750-3639.1992.tb00681.x. PMID: 1341954

Severe dystonia and myoglobinuria.

Jankovic J, Penn AS
Neurology 1982 Oct;32(10):1195-7. doi: 10.1212/wnl.32.10.1195. PMID: 6889706

See all (3)

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Autosomal dominant myoglobinuria

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

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