ORPHA:565624
Combined oxidative phosphorylation defect type 39
Synonyms: COXPD39 · GFM2-related combined oxidative phosphorylation defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined oxidative phosphorylation defect type 39 | COXPD39 · GFM2-related combined oxidative phosphorylation defect |
| fr | Déficit combiné de la phosphorylation oxydative type 39 | COXPD39 · Déficit combiné de la phosphorylation oxydative associé à GFM2 |
| de | Kombinierter Defekt der oxidativen Phosphorylierung Typ 39 | COXPD39 · GFM2-assoziierter Kombinierter Defekt der oxidativen Phosphorylierung |
| es | Deficiencia combinada de la fosforilación oxidativa tipo 39 | COXPD39 · Deficiencia combinada de la fosforilación oxidativa asociada a GFM2 |
| it | Difetto combinato della fosforilazione ossidativa tipo 39 | COXPD39 · Difetto combinato della fosforilazione ossidativa correlato a GFM2 |
| nl | Gecombineerde oxidatieve fosforylatiedeficiëntie type 39 | COXPD39 · GFM2-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie |
| pt | Defeito combinado da fosforilação oxidativa tipo 39 | |
| pl | Złożony defekt fosforylacji oksydacyjnej typu 39 | = en |
| cs | Kombinovaný defekt oxidativní fosforylace typu 39 | = en |
| uk | Комбінований дефект окисного фосфорилювання, тип 39 | COXPD39 · Комбінований дефект окислювального фосфорилювання, повязаний з GFM2 |
| zh | 复合氧化磷酸化缺陷39型 | GFM2基因相关复合氧化磷酸化缺陷 |
| tr | Kombine oksidatif fosforilasyon defekti tip 39 | COXPD39 · GFM2-ilişkili kombine oksidatif fosforilasyon defekti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618397 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0032726 | E | validated | |
| UMLS | C5193075 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GFM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29682 | ENSG00000164347 | 606544 | 5q13.3 | GTP dependent ribosome recycling factor mitochondrial 2 | 22700954[PMID]_26016410[PMID]_29075935[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 22700954[PMID]_26016410[PMID]_29075935[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22700954[PMID]_26016410[PMID]_29075935[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.
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HPO phenotypes
52 annotations · validated 2020-08-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001344 | Absent speech | |
| HP:0008936 | Axial hypotonia | |
| HP:0001662 | Bradycardia | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007321 | Deep white matter hypodensities | |
| HP:0000750 | Delayed speech and language development | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002505 | Loss of ambulation | |
| HP:0008763 | No social interaction | |
| HP:0000543 | Optic disc pallor | |
| HP:0002421 | Poor head control | |
| HP:0000817 | Reduced eye contact | |
| HP:0011344 | Severe global developmental delay | |
| Occasional (29-5%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0003487 | Babinski sign | |
| HP:0002059 | Cerebral atrophy | |
| HP:0005745 | Congenital foot contractures | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0002353 | EEG abnormality | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0004305 | Involuntary movements | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0031959 | Leg dystonia | |
| HP:0002509 | Limb hypertonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000252 | Microcephaly | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| HP:0002058 | Myopathic facies | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000194 | Open mouth | |
| HP:0012428 | Prominent calcaneus | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0030051 | Tip-toe gait | |
| HP:0002013 | Vomiting | |
Annotation source: 26016410[PMID]_29075935[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/565624
- This record as JSON: /data/d/565624.json