Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Synonyms: COXPD16 · Combined oxidative phosphorylation defect type 16
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | COXPD16 · Combined oxidative phosphorylation defect type 16 |
| fr | Cardiomyopathie hypertrophique infantile par déficit en MRPL44 | COXPD16 · Déficit combiné de la phosphorylation oxydative type 16 |
| de | Infantile hypertrophe Kardiomyopathie durch MRPL44-Mangel | COXPD16 · Kombinierter Defekt der oxidativen Phosphorylierung Typ 16 |
| es | Miocardiopatía hipertrófica infantil por deficiencia de MRPL44 | COXPD16 · Deficiencia combinada de la fosforilación oxidativa tipo 16 |
| it | Cardiomiopatia ipertrofica infantile da deficit di MRPL44 | COXPD16 · Difetto combinato della fosforilazione ossidativa, tipo 16 |
| nl | Infantiele hypertrofische cardiomyopathie door MRPL44-deficiëntie | COXPD16 · Gecombineerde oxidatieve fosforylatiedeficiëntie type 16 |
| pt | Cardiomiopatia hipertrófica da infância por défice de MRPL44 | |
| pl | Dziecięca kardiomiopatia przerostowa z powodu niedoboru MRpl44 | COXPD16 · Złożony defekt fosforylacji oksydacyjnej typu 16 |
| cs | Hypertrofická kardiomyopatie kojenců způsobená deficitem MRPL44 s nástupem v kojeneckém věku | COXPD16 · Kombinovaná porucha oxidativní fosforylace typ 16 |
| uk | Інфантильна гіпертрофічна кардіоміопатія, зумовлена дефіцитом MRPL44 | Комбінований дефект окисного фосфорилювання типу 16 · COXPD16 |
| zh | MRPL44基因缺陷导致婴儿肥厚型心肌病 | 联合氧化磷酸化缺陷症16型 |
| tr | MRPL44 eksikliğine bağlı infantil hipertrofik kardiyomiyopati | COXPD16 · Kombine oksidatif fosforilasyon defekti tip 16 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615395 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0014162 | E | validated | |
| UMLS | C4749946 | E | validated | |
| GARD | 12892 | 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: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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MRPL44 | Disease-causing germline mutation(s) in | Assessed | HGNC:16650 | ENSG00000135900 | 611849 | 2q36.1 | mitochondrial ribosomal protein L44 | 23315540[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23315540[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352563
- This record as JSON: /data/d/352563.json