ARARM
MCID: MYG004
MIFTS: 23

Myoglobinuria, Acute Recurrent, Autosomal Recessive (ARARM)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoglobinuria, Acute Recurrent, Autosomal Recessive

MalaCards integrated aliases for Myoglobinuria, Acute Recurrent, Autosomal Recessive:

Name: Myoglobinuria, Acute Recurrent, Autosomal Recessive 58 76 30 13 6 41 74
Myoglobinuria, Familial Paroxysmal Paralytic 58
Familial Paroxysmal Paralytic Myoglobinuria 76
Rhabdomyolysis, Acute Recurrent 58
Acute Recurrent Rhabdomyolysis 76
Ararm 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood (infancy to age 7 years)
attacks triggered by catabolic stress, such as fever or illness
normal development between episodes


HPO:

33
myoglobinuria, acute recurrent, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myoglobinuria, Acute Recurrent, Autosomal Recessive

OMIM : 58 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 (see 255110), 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). See 160010 for discussion of a possible autosomal dominant form of myglobinuria. Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder. (268200)

MalaCards based summary : Myoglobinuria, Acute Recurrent, Autosomal Recessive, also known as myoglobinuria, familial paroxysmal paralytic, is related to myoglobinuria, and has symptoms including muscle weakness and myalgia. An important gene associated with Myoglobinuria, Acute Recurrent, Autosomal Recessive is LPIN1 (Lipin 1). Affiliated tissues include skeletal muscle and kidney, and related phenotypes are muscle weakness and fever

UniProtKB/Swiss-Prot : 76 Myoglobinuria, acute recurrent, autosomal recessive: Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur.

Related Diseases for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Diseases in the Myoglobinuria family:

Myoglobinuria, Autosomal Dominant Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Recurrent Myoglobinuria Dominant Form

Diseases related to Myoglobinuria, Acute Recurrent, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myoglobinuria 10.2

Symptoms & Phenotypes for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Human phenotypes related to Myoglobinuria, Acute Recurrent, Autosomal Recessive:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 fever 33 HP:0001945
3 myalgia 33 HP:0003326
4 areflexia 33 HP:0001284
5 hyporeflexia 33 HP:0001265
6 acute kidney injury 33 HP:0001919
7 hyperkalemia 33 HP:0002153
8 myoglobinuria 33 HP:0002913
9 acute rhabdomyolysis 33 HP:0008942
10 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness
muscle pain
rhabdomyolysis, episodic and recurrent
hyporeflexia/areflexia

Genitourinary Kidneys:
renal failure may occur

Laboratory Abnormalities:
myoglobinuria
increased serum creatine kinase

Clinical features from OMIM:

268200

UMLS symptoms related to Myoglobinuria, Acute Recurrent, Autosomal Recessive:


muscle weakness, myalgia

Drugs & Therapeutics for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Genetic Tests for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Genetic tests related to Myoglobinuria, Acute Recurrent, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Myoglobinuria, Acute Recurrent, Autosomal Recessive 30 LPIN1

Anatomical Context for Myoglobinuria, Acute Recurrent, Autosomal Recessive

MalaCards organs/tissues related to Myoglobinuria, Acute Recurrent, Autosomal Recessive:

42
Skeletal Muscle, Kidney

Publications for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Articles related to Myoglobinuria, Acute Recurrent, Autosomal Recessive:

# Title Authors Year
1
Familial paroxysmal paralytic myoglobinuria. ( 13443259 )
1957

Variations for Myoglobinuria, Acute Recurrent, Autosomal Recessive

ClinVar genetic disease variations for Myoglobinuria, Acute Recurrent, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LPIN1 NM_145693.3(LPIN1): c.643G> T (p.Glu215Ter) single nucleotide variant Pathogenic rs119480071 GRCh37 Chromosome 2, 11913792: 11913792
2 LPIN1 NM_145693.3(LPIN1): c.643G> T (p.Glu215Ter) single nucleotide variant Pathogenic rs119480071 GRCh38 Chromosome 2, 11773666: 11773666
3 LPIN1 NM_145693.3(LPIN1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs119480072 GRCh37 Chromosome 2, 11923960: 11923960
4 LPIN1 NM_145693.3(LPIN1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs119480072 GRCh38 Chromosome 2, 11783834: 11783834
5 LPIN1 NM_145693.3(LPIN1): c.2401C> T (p.Arg801Ter) single nucleotide variant Pathogenic rs119480073 GRCh37 Chromosome 2, 11959716: 11959716
6 LPIN1 NM_145693.3(LPIN1): c.2401C> T (p.Arg801Ter) single nucleotide variant Pathogenic rs119480073 GRCh38 Chromosome 2, 11819590: 11819590
7 LPIN1 NM_145693.3(LPIN1): c.2295-?_2513+?del deletion Pathogenic GRCh38 Chromosome 2, 11819484: 11820514
8 LPIN1 NM_145693.3(LPIN1): c.2295-?_2513+?del deletion Pathogenic GRCh37 Chromosome 2, 11959610: 11960640
9 LPIN1 NM_145693.3(LPIN1): c.1441+2T> C single nucleotide variant Pathogenic rs730880306 GRCh38 Chromosome 2, 11785078: 11785078
10 LPIN1 NM_145693.3(LPIN1): c.1441+2T> C single nucleotide variant Pathogenic rs730880306 GRCh37 Chromosome 2, 11925204: 11925204

Expression for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Search GEO for disease gene expression data for Myoglobinuria, Acute Recurrent, Autosomal Recessive.

Pathways for Myoglobinuria, Acute Recurrent, Autosomal Recessive

GO Terms for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Sources for Myoglobinuria, Acute Recurrent, Autosomal Recessive

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