| Disease Browser
|
Parent Node:
 Cataract (D002386) | Parent Node:
Developmental Disabilities (D002658) | Parent Node:
Hearing Loss (D034381) | Parent Node:
Mitochondrial Myopathies (D017240) | ..Starting node
.. Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
|
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: | 7687 |
| Name: | Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay |
| Definition: | |
| Alternative IDs: | OMIM:613076 |
| ParentIDs: | MESH:D002386|MESH:D002658|MESH:D017240|MESH:D034381 |
| TreeNumbers: | C05.651.460/C567769 |C09.218.458.341/C567769 |C10.597.751.418.341/C567769 |C10.668.491.500/C567769 |C11.510.245/C567769 |C18.452.660.560/C567769 |C23.888.592.763.393.341/C567769 |F03.550.362/C567769 |
| Synonyms: | Mitochondrial Complex Deficiency, Combined |Myopathy With Cataract And Combined Respiratory Chain Deficiency |
| Slim Mappings: | Ear-nose-throat disease|Eye disease|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C567769
MeSH: C567769
OMIM: 613076;
Genes: GFER; | | 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_005262.2(GFER):c.581G>A (p.Arg194His) | 2671 | GFER | Pathogenic | 121908192 | RCV000009228; RCV000199876; | N | MedGen:C2751320,OMIM:613076,ORPHA:330054; MedGen:CN221809 | 16 | 2035992 | 2035992 | NM_005262.2:c.581G>A | NP_005253.3:p.Arg194His | NC_000016.9:g.2035992G>A | OMIM Allelic Variant:600924.0001,UniProtKB (variants):VAR_063435 | C2751320 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; CN221809 not provided | | |
|
|
