Combined oxidative phosphorylation defect type 13
Synonyms: COXPD13
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 13 | COXPD13 |
| fr | Déficit combiné de la phosphorylation oxydative type 13 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 13 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 13 | = en |
| it | Difetto combinato della fosforilazione ossidativa, tipo 13 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 13 | COXPD13 · Gecombineerd defect in oxidatieve fosforylering type 13 |
| pt | Defeito combinado da fosforilação oxidativa, tipo 13 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 13 | = en |
| cs | Kombinovaná porucha oxidativní fosforylace, typ 13 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 13 | = en |
| zh | 复合氧化磷酸化缺陷型13型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 13 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614932 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0013977 | E | validated | |
| UMLS | C4706283 | 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: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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23166 | ENSG00000138035 | 610316 | 2p16.1 | polyribonucleotide nucleotidyltransferase 1 | 23084291[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23084291[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23084291[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
33 annotations · validated 2019-08-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0200125 | Mitochondrial respiratory chain defects | |
| Frequent (79-30%) | ||
| HP:0010994 | Abnormal corpus striatum morphology | |
| HP:0008936 | Axial hypotonia | |
| HP:0001266 | Choreoathetosis | |
| HP:0012448 | Delayed myelination | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002451 | Limb dystonia | |
| HP:0001324 | Muscle weakness | |
| HP:0000639 | Nystagmus | |
| HP:0002421 | Poor head control | |
| HP:0007069 | Profound static encephalopathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0001344 | Absent speech | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0000519 | Developmental cataract | |
| HP:0040204 | Elevated CSF neopterin level | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0003273 | Hip contracture | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0000763 | Sensory neuropathy | |
| HP:0003548 | Subsarcolemmal accumulations of abnormally shaped mitochondria | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| HP:0003554 | Type 2 muscle fiber atrophy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30046113[PMID]_23084291[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319514
- This record as JSON: /data/d/319514.json