Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
COQ10D7 COQ4-related neonatal encephalomyopathy Coenzyme Q10 deficiency, primary, 7 |
| Number of Symptoms | 20 |
| OrphanetNr: | 457185 |
| OMIM Id: |
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases - PMID: 25658047 [IBIS] |
| Inheritance: |
Autosomal recessive Monogenic - PMID: 25658047 [IBIS] |
| Age of onset: |
Prenatal Neonatal - PMID: 25658047 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Comment:
| Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome is caused by mutations in COQ4 (PMID:25658047). |
Symptom Information:
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(HPO:0040144) | L-2-hydroxyglutaric aciduria | 25658047 | IBIS | 3 / 7739 | ||
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(HPO:0002151) | Increased serum lactate | 25658047 | IBIS | 92 / 7739 | ||
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(HPO:0007141) | Sensorimotor neuropathy | 25658047 | IBIS | 27 / 7739 | ||
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(HPO:0001321) | Cerebellar hypoplasia | 25658047 | IBIS | 114 / 7739 | ||
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(HPO:0001250) | Seizures | 25658047 | IBIS | 1245 / 7739 | ||
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(HPO:0006915) | Inability to walk by childhood/adolescence | 25658047 | IBIS | 2 / 7739 | ||
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(OMIM) | Loss of independent ambulation | 25658047 | IBIS | 5 / 7739 | ||
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(HPO:0011343) | Moderate global developmental delay | 25658047 | IBIS | 5 / 7739 | ||
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(HPO:0200134) | Epileptic encephalopathy | 25658047 | IBIS | 42 / 7739 | ||
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(MedDRA:10053839) | Ubiquinone decreased | 25658047 | IBIS | 2 / 7739 | ||
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(HPO:0003647) | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | 25658047 | IBIS | 2 / 7739 | ||
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(HPO:0001319) | Neonatal hypotonia | 25658047 | IBIS | 101 / 7739 | ||
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(HPO:0002650) | Scoliosis | 25658047 | IBIS | 705 / 7739 | ||
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(HPO:0002015) | Dysphagia | 25658047 | IBIS | 301 / 7739 | ||
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(HPO:0002093) | Respiratory insufficiency | 25658047 | IBIS | 410 / 7739 | ||
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(HPO:0001643) | Patent ductus arteriosus | 25658047 | IBIS | 228 / 7739 | ||
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(HPO:0001712) | Left ventricular hypertrophy | 25658047 | IBIS | 76 / 7739 | ||
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(HPO:0001639) | Hypertrophic cardiomyopathy | 25658047 | IBIS | 137 / 7739 | ||
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(HPO:0001662) | Bradycardia | 25658047 | IBIS | 41 / 7739 | ||
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(HPO:0001511) | Intrauterine growth retardation | 25658047 | IBIS | 358 / 7739 |
Associated genes:
| COQ4; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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