QRSL1-related combined oxidative phosphorylation defect
Synonyms: QRSL1-related COXPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | QRSL1-related combined oxidative phosphorylation defect | QRSL1-related COXPD |
| fr | Déficit combiné de la phosphorylation oxydative associé à QRSL1 | COXPD associé à QRSL1 |
| de | Kombinierter Defekt der oxidativen Phosphorylierung, QRSL1-assoziierter | COXPD, QRSL1-assoziiert |
| es | Deficiencia combinada de la fosforilación oxidativa asociada a QRSL1 | COXPD asociada a QRSL1 |
| it | Difetto combinato della fosforilazione ossidativa correlato a QRSL1 | COXPD correlato a QRSL1 |
| nl | QRSL1-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie | QRSL1-gerelateerde COXPD |
| pt | Defeito combinado da fosforilação oxidativa QRSL1-relacionado | |
| pl | Defekt złożonej fosforylacji oksydacyjnej związany z QRSL1 | = en |
| cs | QRSL1-vázaný kombinovaný defekt oxidativní fosforylace | = en |
| uk | Комбінований дефект окислювального фосфорилювання, повязаний з QRSL1 | COXPD, повязане з QRSL1 |
| zh | QRSL1基因相关复合氧化磷酸化缺陷 | = en |
| tr | QRSL1-ilişkili kombine oksidatif fosforilasyon defekti | QRSL1-ilişkili COXPD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618835 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0030006 | E | validated | |
| UMLS | C5394232 | 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:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| QRSL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21020 | ENSG00000130348 | 617209 | 6q21 | glutaminyl-tRNA amidotransferase subunit QRSL1 | 30237576[PMID]_30283131[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30459337[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/570491
- This record as JSON: /data/d/570491.json