Combined oxidative phosphorylation defect type 7
Synonyms: Severe C12ORF65-related combined oxidative phosphorylation defect · COXPD7 · Severe C12ORF65-related COXPD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 7 | Severe C12ORF65-related combined oxidative phosphorylation defect · COXPD7 · Severe C12ORF65-related COXPD |
| fr | Déficit combiné de la phosphorylation oxydative type 7 | COXPD7 · Déficit combiné de la phosphorylation oxydative associé à C12ORF65, forme sévère |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 7 | COXPD7 · OXPHOS-Defekt, kombinierter schwerer, C12ORF65-assoziierter |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 7 | COXPD grave asociada a C12ORF65 · COXPD7 · Deficiencia combinada de la fosforilación oxidativa grave asociada a C12ORF65 |
| it | Difetto combinato della fosforilazione ossidativa, tipo 7 | COXPD7 |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 7 | COXPD7 · Ernstige C12ORF65-gerelateerde COXPD · Ernstige C12ORF65-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie · Gecombineerd defect in oxidatieve fosforylering type 7 |
| pt | Deficiência combinada da fosforilação oxidativa, tipo 7 | COXPD7 |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 7 | COXPD7 |
| cs | Kombinovaný defekt oxidativní fosforylace, typ 7 | COXPD7 |
| uk | Комбінований дефект окисного фосфорилювання, тип 7 | COXPD7 · Тяжкий комбінований дефект окисного фосфорилювання, повязаний з C12ORF65 · Тяжке COXPD, повязане з C12ORF65 |
| zh | 结合氧化磷酸化不足7 | 严重C12ORF65基因相关联合氧化磷酸化缺陷症 |
| tr | Kombine oksidatif fosforilasyon defekti tip 7 | COXPD7 · Ağır C12ORF65-ilişkili COXPD · Ağır C12ORF65-ilişkili kombine oksidatif fosforilasyon defekti |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613559 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | index | validated |
| MONDO | 0013306 | E | validated | |
| UMLS | C3150801 | 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 (1):
- ORPHA:497623C12ORF65-related combined oxidative phosphorylation defect
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTRFR | Disease-causing germline mutation(s) in | Assessed | HGNC:26784 | ENSG00000130921 | 613541 | 12q24.31 | mitochondrial translation release factor in rescue | 20598281[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24284555[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24284555[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
42 annotations · validated 2020-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000648 | Optic atrophy | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0100543 | Cognitive impairment | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002936 | Distal sensory impairment | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0031629 | Impaired tandem gait | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0001283 | Bulbar palsy | |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0007641 | Dyschromatopsia | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0020049 | Exodeviation | |
| HP:0001349 | Facial diplegia | |
| HP:0008947 | Floppy infant | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0005216 | Impaired mastication | |
| HP:0002540 | Inability to walk | |
| HP:0000639 | Nystagmus | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0002590 | Paralytic ileus | |
| HP:0000508 | Ptosis | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0003484 | Upper limb muscle weakness | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20598281[PMID]_24424123[PMID]_28091420[PMID]_24198383[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254930
- This record as JSON: /data/d/254930.json