Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Synonyms: Hepatoencephalopathy due to COXPD1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Hepatoencephalopathy due to COXPD1 |
| fr | Hépatoencéphalopathie par déficit combiné de la phosphorylation oxydative de type 1 | Hépatoencéphalopathie par COXPD1 |
| de | Hepatoenzephalopathie durch kombinierten Defekt der oxidativen Phosphorylierung Typ 1 | Hepatoenzephalopathie durch COXPD1 |
| es | Hepatoencefalopatía por deficiencia combinada de la fosforilación oxidativa tipo 1 | Hepatoencefalopatía por COXPD1 |
| it | Epatoencefalopatia da difetto combinato della fosforilazione ossidativa, tipo 1 | Epatoencefalopatia da COXPD1 |
| nl | Hepato-encefalopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 1 | Hepato-encefalopathie door COXPD1 |
| pt | Hepatoencefalopatia por deficiência combinada da fosforilação oxidativa, tipo 1 | |
| pl | Encefalopatia wątrobowa z powodu złożonego niedoboru fosforylacji oksydacyjnej typu 1 | Encefalopatia wątrobowa z powodu COXPD1 |
| cs | Hepatoencefalopatie způsobená kombinovaným deficitem oxidativní fosforylace, typ 1 | Hepatoencefalopatie způsobená COXPD1 |
| uk | Гепатоенцефалопатія внаслідок комбінованого дефекту окисного фосфорилювання типу 1 | Гепатоенцефалопатія внаслідок COXPD1 |
| zh | 复合性氧化磷酸化缺陷所致肝性脑病1型 | 联合氧化磷酸化缺陷1型所致肝性脑病 |
| tr | Tip 1 kombine oksidatif fosforilasyon defektine bağlı hepatoensefalopati | COXPD1'e bağlı hepatoensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609060 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | index | validated |
| MONDO | 0012191 | E | validated | |
| UMLS | C4707239 | 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 (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:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GFM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13780 | ENSG00000168827 | 606639 | 3q25.32 | G elongation factor mitochondrial 1 | 23430926[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21119709[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21119709[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
21 annotations · validated 2025-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain | |
| HP:0002353 | EEG abnormality | |
| HP:0001298 | Encephalopathy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001399 | Hepatic failure | |
| HP:0003128 | Lactic acidosis | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001332 | Dystonia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0000047 | Hypospadias | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0001622 | Premature birth | |
| HP:0001257 | Spasticity | |
| HP:0033725 | Thin corpus callosum | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 38204316[PMID]_34919756[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137681
- This record as JSON: /data/d/137681.json