MCID: GNT042
MIFTS: 21

Genetic Recurrent Myoglobinuria

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Genetic Recurrent Myoglobinuria

MalaCards integrated aliases for Genetic Recurrent Myoglobinuria:

Name: Genetic Recurrent Myoglobinuria 58

Characteristics:

Orphanet epidemiological data:

58
genetic recurrent myoglobinuria
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 R82.1
Orphanet 58 ORPHA99845

Summaries for Genetic Recurrent Myoglobinuria

MalaCards based summary : Genetic Recurrent Myoglobinuria is related to myoglobinuria, recurrent and mitochondrial myopathy, infantile, transient. An important gene associated with Genetic Recurrent Myoglobinuria is LPIN1 (Lipin 1), and among its related pathways/superpathways are Cardiac muscle contraction and TP53 Regulates Metabolic Genes.

Related Diseases for Genetic Recurrent Myoglobinuria

Graphical network of the top 20 diseases related to Genetic Recurrent Myoglobinuria:



Diseases related to Genetic Recurrent Myoglobinuria

Symptoms & Phenotypes for Genetic Recurrent Myoglobinuria

Drugs & Therapeutics for Genetic Recurrent Myoglobinuria

Search Clinical Trials , NIH Clinical Center for Genetic Recurrent Myoglobinuria

Genetic Tests for Genetic Recurrent Myoglobinuria

Anatomical Context for Genetic Recurrent Myoglobinuria

Publications for Genetic Recurrent Myoglobinuria

Articles related to Genetic Recurrent Myoglobinuria:

# Title Authors PMID Year
1
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. 6
18817903 2008
2
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. 6
10980727 2000

Variations for Genetic Recurrent Myoglobinuria

ClinVar genetic disease variations for Genetic Recurrent Myoglobinuria:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LPIN1 NM_001349206.2(LPIN1):c.643G>T (p.Glu215Ter) SNV Pathogenic 4910 rs119480071 GRCh37: 2:11913792-11913792
GRCh38: 2:11773666-11773666
2 LPIN1 NM_145693.3(LPIN1):c.2295-?_2513+?del Deletion Pathogenic 4913 GRCh37: 2:11959610-11960640
GRCh38: 2:11819484-11820514
3 LPIN1 NM_001349206.2(LPIN1):c.1549+2T>C SNV Pathogenic 4914 rs730880306 GRCh37: 2:11925204-11925204
GRCh38: 2:11785078-11785078
4 MT-CO1 m.5920G>A SNV Pathogenic 9669 rs199476129 GRCh37: MT:5920-5920
GRCh38: MT:5920-5920
5 LPIN1 NM_001349206.2(LPIN1):c.942del (p.Pro315fs) Deletion Pathogenic 807626 rs1572770217 GRCh37: 2:11919756-11919756
GRCh38: 2:11779630-11779630
6 LPIN1 NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter) SNV Pathogenic 4911 rs119480072 GRCh37: 2:11923960-11923960
GRCh38: 2:11783834-11783834
7 LPIN1 NM_001349206.2(LPIN1):c.2509C>T (p.Arg837Ter) SNV Pathogenic 4912 rs119480073 GRCh37: 2:11959716-11959716
GRCh38: 2:11819590-11819590
8 LPIN1 NM_001349206.2(LPIN1):c.1822C>T (p.Gln608Ter) SNV Pathogenic 1032472 GRCh37: 2:11935549-11935549
GRCh38: 2:11795423-11795423
9 LPIN1 NM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs) Duplication Likely pathogenic 666366 rs1572931008 GRCh37: 2:11944589-11944590
GRCh38: 2:11804463-11804464
10 LPIN1 NM_001349206.2(LPIN1):c.2518G>C (p.Asp840His) SNV Uncertain significance 666367 rs1573030522 GRCh37: 2:11960537-11960537
GRCh38: 2:11820411-11820411
11 LPIN1 NM_001349206.2(LPIN1):c.309G>T (p.Leu103=) SNV Uncertain significance 893030 GRCh37: 2:11911518-11911518
GRCh38: 2:11771392-11771392
12 LPIN1 NM_001349206.2(LPIN1):c.438G>A (p.Pro146=) SNV Uncertain significance 893031 GRCh37: 2:11911647-11911647
GRCh38: 2:11771521-11771521
13 LPIN1 NM_001349206.2(LPIN1):c.524C>T (p.Thr175Ile) SNV Uncertain significance 893032 GRCh37: 2:11911733-11911733
GRCh38: 2:11771607-11771607
14 LPIN1 NM_001349206.2(LPIN1):c.1972G>A (p.Val658Ile) SNV Uncertain significance 893070 GRCh37: 2:11943118-11943118
GRCh38: 2:11802992-11802992
15 LPIN1 NM_001349206.2(LPIN1):c.2030A>T (p.Lys677Met) SNV Uncertain significance 893071 GRCh37: 2:11944565-11944565
GRCh38: 2:11804439-11804439
16 LPIN1 NM_001349206.2(LPIN1):c.2043C>T (p.Asn681=) SNV Uncertain significance 893072 GRCh37: 2:11944578-11944578
GRCh38: 2:11804452-11804452
17 LPIN1 NM_001349206.2(LPIN1):c.2067G>T (p.Thr689=) SNV Uncertain significance 785777 rs369684215 GRCh37: 2:11944602-11944602
GRCh38: 2:11804476-11804476
18 LPIN1 NM_001349206.2(LPIN1):c.2150G>T (p.Gly717Val) SNV Uncertain significance 893073 GRCh37: 2:11944685-11944685
GRCh38: 2:11804559-11804559
19 LPIN1 NM_001349206.2(LPIN1):c.2168A>G (p.Asp723Gly) SNV Uncertain significance 893074 GRCh37: 2:11945201-11945201
GRCh38: 2:11805075-11805075
20 LPIN1 NM_001349206.2(LPIN1):c.2342C>T (p.Thr781Met) SNV Uncertain significance 893075 GRCh37: 2:11955306-11955306
GRCh38: 2:11815180-11815180
21 LPIN1 NM_001349206.2(LPIN1):c.*927A>G SNV Uncertain significance 893107 GRCh37: 2:11965844-11965844
GRCh38: 2:11825718-11825718
22 LPIN1 NM_001349206.2(LPIN1):c.*1066A>G SNV Uncertain significance 893108 GRCh37: 2:11965983-11965983
GRCh38: 2:11825857-11825857
23 LPIN1 NM_001349206.2(LPIN1):c.*1100T>C SNV Uncertain significance 893109 GRCh37: 2:11966017-11966017
GRCh38: 2:11825891-11825891
24 LPIN1 NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys) SNV Uncertain significance 893247 GRCh37: 2:11919668-11919668
GRCh38: 2:11779542-11779542
25 LPIN1 NM_001349206.2(LPIN1):c.879C>G (p.Val293=) SNV Uncertain significance 893248 GRCh37: 2:11919693-11919693
GRCh38: 2:11779567-11779567
26 LPIN1 NM_001349206.2(LPIN1):c.2343G>A (p.Thr781=) SNV Uncertain significance 893278 GRCh37: 2:11955307-11955307
GRCh38: 2:11815181-11815181
27 LPIN1 NM_001349206.2(LPIN1):c.2403-8T>G SNV Uncertain significance 893279 GRCh37: 2:11959602-11959602
GRCh38: 2:11819476-11819476
28 LPIN1 NM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly) SNV Uncertain significance 893280 GRCh37: 2:11959621-11959621
GRCh38: 2:11819495-11819495
29 LPIN1 NM_001349206.2(LPIN1):c.2609C>G (p.Thr870Ser) SNV Uncertain significance 893281 GRCh37: 2:11960628-11960628
GRCh38: 2:11820502-11820502
30 LPIN1 NM_001349206.2(LPIN1):c.2674A>T (p.Ser892Cys) SNV Uncertain significance 893282 GRCh37: 2:11964810-11964810
GRCh38: 2:11824684-11824684
31 LPIN1 NM_001349206.2(LPIN1):c.*1430C>T SNV Uncertain significance 893318 GRCh37: 2:11966347-11966347
GRCh38: 2:11826221-11826221
32 LPIN1 NM_001349206.2(LPIN1):c.*1487G>A SNV Uncertain significance 893319 GRCh37: 2:11966404-11966404
GRCh38: 2:11826278-11826278
33 LPIN1 NM_001349206.2(LPIN1):c.*1582T>G SNV Uncertain significance 893320 GRCh37: 2:11966499-11966499
GRCh38: 2:11826373-11826373
34 LPIN1 NM_001349206.2(LPIN1):c.*99C>T SNV Uncertain significance 330922 rs886054800 GRCh37: 2:11965016-11965016
GRCh38: 2:11824890-11824890
35 LPIN1 NM_001349206.2(LPIN1):c.695C>T (p.Ser232Leu) SNV Uncertain significance 330910 rs568970987 GRCh37: 2:11913844-11913844
GRCh38: 2:11773718-11773718
36 LPIN1 NM_001349206.2(LPIN1):c.*538C>T SNV Uncertain significance 330926 rs531722548 GRCh37: 2:11965455-11965455
GRCh38: 2:11825329-11825329
37 LPIN1 NM_001349206.2(LPIN1):c.*1263C>T SNV Uncertain significance 330935 rs183188041 GRCh37: 2:11966180-11966180
GRCh38: 2:11826054-11826054
38 LPIN1 NM_001349206.2(LPIN1):c.1790A>G (p.Asn597Ser) SNV Uncertain significance 330917 rs886054799 GRCh37: 2:11932116-11932116
GRCh38: 2:11791990-11791990
39 LPIN1 NM_001349206.2(LPIN1):c.966T>C (p.Ser322=) SNV Uncertain significance 330912 rs777607912 GRCh37: 2:11922335-11922335
GRCh38: 2:11782209-11782209
40 LPIN1 NM_001349206.2(LPIN1):c.-35A>G SNV Uncertain significance 894057 GRCh37: 2:11886772-11886772
GRCh38: 2:11746646-11746646
41 LPIN1 NM_001349206.2(LPIN1):c.-26A>C SNV Uncertain significance 894058 GRCh37: 2:11886781-11886781
GRCh38: 2:11746655-11746655
42 LPIN1 NM_001349206.2(LPIN1):c.-15C>A SNV Uncertain significance 894059 GRCh37: 2:11886792-11886792
GRCh38: 2:11746666-11746666
43 LPIN1 NM_001349206.2(LPIN1):c.2661G>A (p.Pro887=) SNV Uncertain significance 330921 rs114931326 GRCh37: 2:11964797-11964797
GRCh38: 2:11824671-11824671
44 LPIN1 NM_001349206.2(LPIN1):c.*1357G>C SNV Uncertain significance 330938 rs886054807 GRCh37: 2:11966274-11966274
GRCh38: 2:11826148-11826148
45 LPIN1 NM_001349206.2(LPIN1):c.*2284A>G SNV Uncertain significance 330956 rs569760366 GRCh37: 2:11967201-11967201
GRCh38: 2:11827075-11827075
46 LPIN1 NM_001349206.2(LPIN1):c.1374A>C (p.Gly458=) SNV Uncertain significance 330916 rs546979072 GRCh37: 2:11925027-11925027
GRCh38: 2:11784901-11784901
47 LPIN1 NM_001349206.2(LPIN1):c.*2597C>T SNV Uncertain significance 330959 rs886054811 GRCh37: 2:11967514-11967514
GRCh38: 2:11827388-11827388
48 LPIN1 NM_001349206.2(LPIN1):c.119A>G (p.Asn40Ser) SNV Uncertain significance 330903 rs149819112 GRCh37: 2:11905786-11905786
GRCh38: 2:11765660-11765660
49 LPIN1 NM_001349206.2(LPIN1):c.*1708G>A SNV Uncertain significance 330945 rs142740836 GRCh37: 2:11966625-11966625
GRCh38: 2:11826499-11826499
50 LPIN1 NM_001349206.2(LPIN1):c.110G>A (p.Arg37His) SNV Uncertain significance 330902 rs774490262 GRCh37: 2:11905777-11905777
GRCh38: 2:11765651-11765651

Expression for Genetic Recurrent Myoglobinuria

Search GEO for disease gene expression data for Genetic Recurrent Myoglobinuria.

Pathways for Genetic Recurrent Myoglobinuria

Pathways related to Genetic Recurrent Myoglobinuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.9 MT-CO3 MT-CO1
2 10.55 MT-CO3 MT-CO1

GO Terms for Genetic Recurrent Myoglobinuria

Cellular components related to Genetic Recurrent Myoglobinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 8.96 MT-CO3 MT-CO1
2 respiratory chain complex IV GO:0045277 8.62 MT-CO3 MT-CO1

Biological processes related to Genetic Recurrent Myoglobinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.26 MT-CO3 MT-CO1
2 aerobic respiration GO:0009060 9.16 MT-CO3 MT-CO1
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.96 MT-CO3 MT-CO1
4 respiratory electron transport chain GO:0022904 8.62 MT-CO3 MT-CO1

Molecular functions related to Genetic Recurrent Myoglobinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 MT-CO3 MT-CO1

Sources for Genetic Recurrent Myoglobinuria

3 CDC
7 CNVD
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11 DGIdb
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20 GARD
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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71 UMLS via Orphanet
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