Combined oxidative phosphorylation defect type 29
Synonyms: COXPD29
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 29 | COXPD29 |
| fr | Déficit combiné de la phosphorylation oxydative type 29 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 29 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 29 | = en |
| it | Deficit combinato della fosforilazione ossidativa tipo 29 | |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 29 | COXPD29 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 29 |
| pt | Défice combinado da fosforilação oxidativa tipo 29 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 29 | = en |
| cs | Kombinovaný defekt oxidativní fosforylace, typ 29 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 29 | = en |
| zh | 复合氧化磷酸化缺陷29型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 29 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616811 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0014781 | E | validated | |
| UMLS | C5567607 | 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 (4):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - 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:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TXN2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17772 | ENSG00000100348 | 609063 | 22q12.3 | thioredoxin 2 | 26626369[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 26626369[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26626369[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
22 annotations · validated 2019-02-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0003808 | Abnormal muscle tone | |
| HP:0040078 | Axonal degeneration | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0011924 | Decreased activity of mitochondrial complex III | |
| HP:0012448 | Delayed myelination | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0030884 | Gastrojejunal tube feeding in infancy | |
| HP:0002283 | Global brain atrophy | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003739 | Myoclonic spasms | |
| HP:0002180 | Neurodegeneration | |
| HP:0001138 | Optic neuropathy | |
| HP:0002370 | Poor coordination | |
| HP:0011451 | Primary microcephaly | |
| HP:0000488 | Retinopathy | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002416 | Subependymal cysts | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 26626369[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/478029
- This record as JSON: /data/d/478029.json