MCID: MYG004
MIFTS: 27

Myoglobinuria, Acute Recurrent, Autosomal Recessive

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

Aliases & Classifications for Myoglobinuria, Acute Recurrent, Autosomal Recessive

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

Name: Myoglobinuria, Acute Recurrent, Autosomal Recessive 57 75 29 13 6 40 73
Myoglobinuria, Familial Paroxysmal Paralytic 57
Familial Paroxysmal Paralytic Myoglobinuria 75
Rhabdomyolysis, Acute Recurrent 57
Acute Recurrent Rhabdomyolysis 75
Myoglobinuria 44
Ararm 75

Characteristics:

OMIM:

57
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:

32
myoglobinuria, acute recurrent, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myoglobinuria, Acute Recurrent, Autosomal Recessive

OMIM : 57 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 myoglobinuria, recurrent, 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 : 75 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:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 myoglobinuria 12.5
2 myoglobinuria, recurrent 12.4
3 myoglobinuria, autosomal dominant 12.1
4 genetic recurrent myoglobinuria 12.0
5 myoglobinuria dominant form 11.9
6 phosphoglycerate mutase deficiency 11.5
7 phosphoglycerate kinase deficiency 11.2
8 carnitine palmitoyltransferase ii deficiency, infantile 11.2
9 glycogen storage disease v 11.1
10 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 11.1
11 glycogen storage disease vii 11.1
12 myopathy with lactic acidosis, hereditary 11.0
13 acyl-coa dehydrogenase, very long-chain, deficiency of 11.0
14 myopathy with deficiency of iron-sulfur cluster assembly enzyme 10.9
15 fanconi-bickel syndrome 10.8
16 marinesco-sjogren syndrome 10.8
17 glycogen storage disease x 10.8
18 glycogen storage disease, type ixd 10.8
19 muscular phosphorylase kinase deficiency 10.8
20 myopathy 10.0
21 muscular dystrophy 10.0
22 hemoglobinuria 9.9
23 myositis 9.8
24 mitochondrial complex iv deficiency 9.8
25 muscular dystrophy, becker type 9.8
26 muscular dystrophy, duchenne type 9.8
27 mitochondrial trifunctional protein deficiency 9.8
28 malaria 9.8
29 microvascular complications of diabetes 3 9.8
30 microvascular complications of diabetes 4 9.8
31 microvascular complications of diabetes 6 9.8
32 microvascular complications of diabetes 7 9.8
33 hemolytic anemia 9.8
34 neuroleptic malignant syndrome 9.8
35 influenza 9.8
36 malignant hyperthermia 9.8
37 dystrophinopathies 9.8
38 limb-girdle muscular dystrophy 9.8
39 encephalopathy 9.8
40 myotonia 9.8
41 serotonin syndrome 9.8

Graphical network of the top 20 diseases related to Myoglobinuria, Acute Recurrent, Autosomal Recessive:



Diseases related to Myoglobinuria, Acute Recurrent, Autosomal Recessive

Symptoms & Phenotypes for Myoglobinuria, Acute Recurrent, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 fever 32 HP:0001945
3 elevated serum creatine phosphokinase 32 HP:0003236
4 myalgia 32 HP:0003326
5 areflexia 32 HP:0001284
6 hyporeflexia 32 HP:0001265
7 acute kidney injury 32 HP:0001919
8 hyperkalemia 32 HP:0002153
9 myoglobinuria 32 HP:0002913
10 acute rhabdomyolysis 32 HP:0008942

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

Cochrane evidence based reviews: myoglobinuria

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 29 LPIN1

Anatomical Context for Myoglobinuria, Acute Recurrent, Autosomal Recessive

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

41
Skeletal Muscle, Kidney

Publications for Myoglobinuria, Acute Recurrent, Autosomal Recessive

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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