| Disease Browser
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Parent Node:
 Ataxia (D001259) | Parent Node:
Metabolism, Inborn Errors (D008661) | Parent Node:
Muscle Weakness (D018908) | Parent Node:
Neuromuscular Diseases (D009468) | ..Starting node
.. COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
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Child Nodes:
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Sister Nodes: | ..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
| ..Cyclic Vomiting Syndrome with Neuromuscular Disease (C564022)
| ..Cyprus facial neuromusculoskeletal syndrome (C536229)
| ..Fatigue Syndrome, Chronic (D015673)
| ..GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy (C565544)
| ..GSD IV, Neuromuscular Form, Childhood (C565543)
| ..GSD IV, Neuromuscular Form, Congenital (C565542)
| ..GSD IV, Neuromuscular Form, Fatal Perinatal (C565541)
| ..Isaacs Syndrome (D020386)
| ..Motor Neuron Disease (D016472)  64
| ..Muscular Atrophy, Spinal (D009134) 33
| ..Muscular Diseases (D009135) 430
| ..Muscular Disorders, Atrophic (D020966) 120
| ..Neuromuscular Junction Diseases (D020511) 23
| ..Peripheral Nervous System Diseases (D010523) 294
| ..Poliomyelitis (D011051) 2
| ..Stiff-Person Syndrome (D016750)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 2460 |
| Name: | COENZYME Q10 DEFICIENCY, PRIMARY, 1 |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D001259|MESH:D008661|MESH:D009468|MESH:D018908 |
| TreeNumbers: | C05.651.515/607426 |C10.597.350.090/607426 |C10.597.613.593/607426 |C10.668/607426 |C16.320.565/607426 |C18.452.648/607426 |C23.550.695/607426 |C23.888.592.350.090/607426 |C23.888.592.608.593/607426 |
| Synonyms: | COENZYME Q DEFICIENCY 1 |COQ10D1 |CoQ10 DEFICIENCY, PRIMARY, 1 |CoQ DEFICIENCY 1 |UBIQUINONE DEFICIENCY 1 |
| Slim Mappings: | Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
| Reference: |
MedGen: 607426
MeSH: 607426
OMIM: 607426;
Genes: COQ2; | | 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_015697.7(COQ2):c.890A>G (p.Tyr297Cys) | 27235 | COQ2 | Pathogenic | 121918230 | RCV000001501; | N | MedGen:C1843920,OMIM:607426 | 4 | 84191035 | 84191035 | NM_015697.7:c.890A>G | NP_056512.5:p.Tyr297Cys | NC_000004.11:g.84191035T>C | OMIM Allelic Variant:609825.0001 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | | | NM_015697.7(COQ2):c.683A>G (p.Asn228Ser) | 27235 | COQ2 | Pathogenic | 121918232 | RCV000001504; | N | MedGen:C1843920,OMIM:607426 | 4 | 84194658 | 84194658 | NM_015697.7:c.683A>G | NP_056512.5:p.Asn228Ser | NC_000004.11:g.84194658T>C | OMIM Allelic Variant:609825.0004 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | | | NM_015697.7(COQ2):c.590G>A (p.Arg197His) | 27235 | COQ2 | Pathogenic | 121918231 | RCV000001503; | N | MedGen:C1843920,OMIM:607426 | 4 | 84194751 | 84194751 | NM_015697.7:c.590G>A | NP_056512.5:p.Arg197His | NC_000004.11:g.84194751C>T | OMIM Allelic Variant:609825.0003 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | | | NM_015697.7(COQ2):c.437G>A (p.Ser146Asn) | 27235 | COQ2 | Pathogenic | 121918233 | RCV000001505; | N | MedGen:C1843920,OMIM:607426 | 4 | 84200234 | 84200234 | NM_015697.7:c.437G>A | NP_056512.5:p.Ser146Asn | NC_000004.11:g.84200234C>T | OMIM Allelic Variant:609825.0005 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | |
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