FASTKD2-related infantile mitochondrial encephalomyopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Infancy, Neonatal
- Status
- active
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FASTKD2-related infantile mitochondrial encephalomyopathy | |
| fr | Encéphalomyopathie mitochondriale infantile associée à FASTKD2 | |
| de | Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani | |
| es | Encefalomiopatía mitocondrial del lactante asociada a FASTKD2 | |
| it | Encefalopatia mitocondriale infantile correlata a FASTKD2 | |
| nl | FASTKD2-gerelateerde infantiele mitochondriale encefalomyopathie | |
| pt | Encefalomiopatia mitocondrial da infância FASTKD2-relacionada | |
| pl | Niemowlęca encefalopatia mitochondrialna związana z FASTKD2 | |
| cs | FASTKD2-vázaná infantilní mitochondriální encefalomyopatie | |
| uk | Дитяча мітохондріальна енцефаломіопатія, повязана з FASTKD2 | |
| zh | FASTKD2相关的婴儿线粒体脑肌病 | |
| tr | FASTKD2 -ilişkili infantil mitokondriyal ensefalomiyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618855 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MONDO | 0015632 | E | validated | |
| UMLS | C4755278 | 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:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FASTKD2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29160 | ENSG00000118246 | 612322 | 2q33.3 | FAST kinase domains 2 | 18771761[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 18771761[PMID]_28499982[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18771761[PMID]_28499982[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166105
- This record as JSON: /data/d/166105.json