Myoglobinuria, Acute Recurrent, Autosomal Recessive

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 (OMIM ), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency (OMIM ), 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).See {160010} for discussion of a possible autosomal dominant form of myglobinuria.Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (OMIM ), an autosomal dominant disorder.

Clinical Features

Top most frequent phenotypes and symptoms related to Myoglobinuria, Acute Recurrent, Autosomal Recessive

  • Muscle weakness
  • Pain
  • Fever
  • Renal insufficiency
  • Areflexia
  • Hyporeflexia
  • Elevated serum creatine phosphokinase
  • Myalgia
  • Inability to walk
  • Generalized muscle weakness

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Myoglobinuria, Acute Recurrent, Autosomal Recessive Is also known as rhabdomyolysis, acute recurrent, myoglobinuria, familial paroxysmal paralytic.

Researches and researchers

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Myoglobinuria, Acute Recurrent, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
LPIN1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LPIN1
Specificity
100 %
Genes
100 %
LPIN1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LPIN1
Specificity
100 %
Genes
100 %
LPIN1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LPIN1
Specificity
100 %
Genes
100 %
LPIN1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

LPIN1
Specificity
100 %
Genes
100 %
Fatty Acid Oxidation Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, ACADL, ACADM, ACADS, ACADVL
Specificity
6 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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