Combined oxidative phosphorylation defect type 27
Synonyms: COXPD27
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 27 | COXPD27 |
| fr | Déficit combiné de la phosphorylation oxydative type 27 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 27 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 27 | = en |
| it | Difetto combinato della fosforilazione ossidativa tipo 27 | |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 27 | COXPD27 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 27 |
| pt | Défice combinado da fosforilação oxidativa tipo 27 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 27 | = en |
| cs | Kombinovaný defekt oxidativní fosforylace, typ 27 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 27 | = en |
| zh | 复合氧化磷酸化缺陷27型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 27 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616672 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014728 | E | validated | |
| UMLS | C5567608 | 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 (3):
- ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25695 | ENSG00000134905 | 612800 | 13q34 | cysteinyl-tRNA synthetase 2, mitochondrial | 25787132[PMID]_25361775[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25361775[PMID]_25787132[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25361775[PMID]_25787132[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
29 annotations · validated 2019-09-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0011924 | Decreased activity of mitochondrial complex III | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0002376 | Developmental regression | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0031165 | Multifocal seizures | |
| HP:0000529 | Progressive visual loss | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0002133 | Status epilepticus | |
| HP:0002273 | Tetraparesis | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0000729 | Autistic behavior | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0002015 | Dysphagia | |
| HP:0010853 | EEG with periodic lateralized epileptiform discharges | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0025517 | Hypoplastic hippocampus | |
| HP:0004305 | Involuntary movements | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001790 | Nonimmune hydrops fetalis | |
| HP:0012531 | Pain | |
| HP:0007351 | Upper limb postural tremor | |
Annotation source: 30139652[PMID]_25787132[PMID]_25361775[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477774
- This record as JSON: /data/d/477774.json