Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | |
| fr | Syndrome d'encéphalopathie-cardiomyopathie hypertrophique-néphropathie tubulaire | |
| de | Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung | |
| es | Síndrome de encefalopatía-miocardiopatía hipertrófica-enfermedad tubular renal | |
| it | Encefalopatia - cardiomiopatia ipertrofica - malattia tubulare renale | |
| nl | Encefalopathie - hypertrofische cardiomyopathie - tubulaire nierziekte-syndroom | |
| pt | Síndrome de encefalopatia-miocardiopatia hipertrófica-doença tubular renal | |
| pl | Encefalopatia - kardiomiopatia przerostowa - choroba kanalików nerkowych | |
| cs | Syndrom zahrnující encefalopatii, hypertrofickou kardiomyopatii a renální tubulární nemoc | |
| uk | Синдром енцефалопатії-гіпертрофічної кардіоміопатії-ниркової недостатності | |
| zh | 脑病-肥厚型心肌病-肾小管疾病综合征 | |
| tr | Ensefalopati-hipertrofik kardiyomiyopati-renal tübüler hastalık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614654 | BTNT | validated | |
| OMIM | 616733 | BTNT | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.22 | NTBT | attributed | validated |
| MONDO | 0013840 | E | validated | |
| UMLS | C4706367 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:35656Coenzyme Q10 deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COQ7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2244 | ENSG00000167186 | 601683 | 16p12.3 | coenzyme Q7, hydroxylase | 31240163[PMID]_28409910[PMID]_26084283[PMID] |
| COQ9 | Disease-causing germline mutation(s) in | Assessed | HGNC:25302 | ENSG00000088682 | 612837 | 16q21 | coenzyme Q9 | 19375058[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 11562630[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11562630[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319678
- This record as JSON: /data/d/319678.json