| Disease Browser
|
Parent Node:
 Acidosis, Lactic (D000140) | Parent Node:
Growth Disorders (D006130) | Parent Node:
Hearing Loss, Central (D006313) | Parent Node:
Mitochondrial Myopathies (D017240) | ..Starting node
.. Mitochondrial myopathy with lactic acidosis (C537476)
|
Child Nodes:
|
Sister Nodes: | ..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
| ..Mitochondrial cytopathy (C540770)
| ..MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
| ..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
| ..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
| ..Mitochondrial Encephalomyopathies (D017237)  13
| ..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
| ..Mitochondrial Myopathy with Diabetes (C564026)
| ..Mitochondrial myopathy with lactic acidosis (C537476)
| ..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
| ..Myopathy, Mitochondrial, Lethal Infantile (C564017)
| ..Neuropathy ataxia and retinis pigmentosa (C537396)
| ..Ophthalmoplegia, Chronic Progressive External (D017246) 7
| ..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
|
Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
|
|
|
| Term ID: | 7330 |
| Name: | Mitochondrial myopathy with lactic acidosis |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D000140|MESH:D006130|MESH:D006313|MESH:D017240 |
| TreeNumbers: | C05.651.460/C537476 |C09.218.458.341.887.432/C537476 |C09.218.807.186.432/C537476 |C10.228.140.068.432/C537476 |C10.597.751.418.341.887.432/C537476 |C10.668.491.500/C537476 |C18.452.076.176.180/C537476 |C18.452.660.560/C537476 |C23.550.393/C537476 |C23.888.592.76 |
| Synonyms: | |
| Slim Mappings: | Ear-nose-throat disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
| Reference: |
MedGen: C537476
MeSH: C537476
OMIM: 251950;
Genes: | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_001256011.2(PNPLA8):c.1975_1976delCT (p.Leu659Alafs) | 50640 | PNPLA8 | Pathogenic | 774184465 | RCV000170362; | N | MedGen:C1855033,OMIM:251950,ORPHA:2597 | 7 | 108112918 | 108112919 | NM_001256011.2:c.1975_1976delCT | NP_001242940.1:p.Leu659Alafs | NC_000007.13:g.108112918_108112919delAG | OMIM Allelic Variant:612123.0002 | C1855033 251950 Mitochondrial myopathy with lactic acidosis | | | | NM_001256011.2(PNPLA8):c.334_337delAATT (p.Asn112Hisfs) | 50640 | PNPLA8 | Pathogenic | 786205882 | RCV000170361; | N | MedGen:C1855033,OMIM:251950,ORPHA:2597 | 7 | 108155299 | 108155302 | NM_001256011.2:c.334_337delAATT | NP_001242940.1:p.Asn112Hisfs | NC_000007.13:g.108155299_108155302delAATT | OMIM Allelic Variant:612123.0001 | C1855033 251950 Mitochondrial myopathy with lactic acidosis | | |
|
|
