MCID: GNT042
MIFTS: 13

Genetic Recurrent Myoglobinuria malady

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Genetic Recurrent Myoglobinuria

Aliases & Descriptions for Genetic Recurrent Myoglobinuria:

Name: Genetic Recurrent Myoglobinuria 56

Characteristics:

Orphanet epidemiological data:

56
genetic recurrent myoglobinuria
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA99845
ICD10 via Orphanet 34 R82.1

Summaries for Genetic Recurrent Myoglobinuria

MalaCards based summary : Genetic Recurrent Myoglobinuria is related to myoclonic epilepsy associated with ragged-red fibers and familial cold-induced inflammatory syndrome 1. An important gene associated with Genetic Recurrent Myoglobinuria is LPIN1 (Lipin 1), and among its related pathways/superpathways are TP53 Regulates Metabolic Genes and Cardiac muscle contraction.

Related Diseases for Genetic Recurrent Myoglobinuria

Diseases related to Genetic Recurrent Myoglobinuria via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy associated with ragged-red fibers 9.9 MT-CO1 MT-CO3
2 familial cold-induced inflammatory syndrome 1 9.8 MT-CO1 MT-CO3
3 bjornstad syndrome 9.8 MT-CO1 MT-CO3
4 alopecia, androgenetic, 2 9.8 MT-CO1 MT-CO3
5 nkx2-1-related disorders 9.7 MT-CO1 MT-CO3
6 hyperthyroxinemia, familial dysalbuminemic 9.7 LPIN1 MT-CO1 MT-CO3
7 b-cell childhood acute lymphoblastic leukemia 9.6 LPIN1 MT-CO1 MT-CO3

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

Variations for Genetic Recurrent Myoglobinuria

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:

id Super pathways Score Top Affiliating Genes
1 10.89 MT-CO1 MT-CO3
2 10.52 MT-CO1 MT-CO3

GO Terms for Genetic Recurrent Myoglobinuria

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

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

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

id Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transport GO:1902600 8.96 MT-CO1 MT-CO3
2 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.62 MT-CO1 MT-CO3

Sources for Genetic Recurrent Myoglobinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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