Combined oxidative phosphorylation defect type 23
Synonyms: COXPD23
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 23 | COXPD23 |
| fr | Déficit combiné de la phosphorylation oxydative type 23 | = en |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 23 | = en |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 23 | = en |
| it | Deficit combinato della fosforilazione ossidativa tipo 23 | = en |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 23 | COXPD23 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 23 |
| pt | Défice combinado da fosforilação oxidativa tipo 23 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 23 | = en |
| cs | Kombinovaný deficit oxidativní fosforylace, typ 23 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 23 | = en |
| zh | 联合氧化磷酸化缺陷23型 | = en |
| tr | Kombine oksidatif fosforilasyon defekti tip 23 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616198 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0014525 | E | validated | |
| UMLS | C5567743 | 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: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 - 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 |
|---|---|---|---|---|---|---|---|---|
| GTPBP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:14880 | ENSG00000130299 | 608536 | 19p13.11 | GTP binding protein 3, mitochondrial | 25434004[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 25434004[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25434004[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
27 annotations · validated 2019-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0003128 | Lactic acidosis | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0008947 | Floppy infant | |
| Occasional (29-5%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0100543 | Cognitive impairment | |
| HP:0001635 | Congestive heart failure | |
| HP:0000961 | Cyanosis | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0003388 | Easy fatigability | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0002415 | Leukodystrophy | |
| HP:0012763 | Paroxysmal dyspnea | |
| HP:0002878 | Respiratory failure | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0001250 | Seizure | |
| HP:0012666 | Severely reduced ejection fraction | |
| HP:0010307 | Stridor | |
| HP:0000505 | Visual impairment | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25434004[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/444013
- This record as JSON: /data/d/444013.json