Myoglobinuria, acute recurrent, autosomal recessive

Preferred Label : Myoglobinuria, acute recurrent, autosomal recessive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myoglobinuria, familial paroxysmal paralytic; Rhabdomyolysis, acute recurrent;

Description : Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (255110; 255120), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992). Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lipin 1 gene (LPIN1, 605518.0001);

Laboratory abnormalities : Myoglobinuria; Increased serum creatine kinase;

Prefixed ID : #268200;

Details

Origin ID

268200;

UMLS CUI

C1849386;

Broader ORDO disease(s)
- Genetic recurrent myoglobinuria [ORDO Disease]
Currated CISMeF NLP mapping
- myoglobinuria, acute recurrent, autosomal recessive [MeSH concept]
- myoglobinuria, acute recurrent, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- myoglobinuria [DO Concept]
Genes related to phenotype
- Lipin 1 [OMIM gene]
HPO term(s)
- Acute kidney injury [HPO term]
- Acute rhabdomyolysis [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fever [HPO term]
- Hyperkalemia [HPO term]
- Hyporeflexia [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Myoglobinuria [HPO term]
- Rhabdomyolysis [HPO term]
ORDO concept(s)
- Genetic recurrent myoglobinuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myoglobinuria, acute recurrent, autosomal recessive [MeSH Supplementary Concept]
- myoglobinuria, acute recurrent, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- Genetic recurrent myoglobinuria [ORDO Disease]

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