Encephalopathy due to mitochondrial and peroxisomal fission defect
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Encephalopathy due to mitochondrial and peroxisomal fission defect | |
| fr | Encéphalopathie par défaut de fission mitochondriale et peroxysomale | Encéphalopathie par défaut de fission des mitochondries et peroxysomes |
| de | Enzephalopathie durch mitochondrialen und peroxisomalen Teilungsdefekt | |
| es | Encefalopatía por un defecto en la fisión mitocondrial y peroxisomal | |
| it | Encefalopatia da difetto della fissione dei mitocondri e dei perossisomi | |
| nl | Encefalopathie door een defect van mitochondriale en peroxisomale deling | |
| pt | Encefalopatia devida a defeito de fissão mitocondrial e peroxissomal | |
| pl | Encefalopatia wywołana zaburzeniem fragmentacji mitochondriów i peroksysomów | |
| cs | Encefalopatie způsobená poruchou mitochondriálního a peroxizomálního štěpení | |
| uk | Енцефалопатія внаслідок дефекту мітохондріального та пероксисомного поділу | |
| zh | 线粒体和过氧化物酶体裂变缺陷性脑病 | |
| tr | Mitokondriyal ve peroksizomal fisyon defektine bağlı ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614388 | BTNT | validated | |
| OMIM | 617086 | BTNT | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C5Y | NTBT | attributed | validated |
| MONDO | 0054865 | E | validated | |
| UMLS | C5681458 | 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:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| DNM1L | ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2973 | ENSG00000087470 | 603850 | 12p11.21 | dynamin 1 like | 17460227[PMID] |
| MFF | ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24858 | ENSG00000168958 | 614785 | 2q36.3 | mitochondrial fission factor | 26783368[PMID]_22499341[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 17460227[PMID]_26825290[PMID]_26992161[PMID]_26604000[PMID]_27145208[PMID]_30109270[PMID]_27328748[PMID]_26783368[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17460227[PMID]_26825290[PMID]_26992161[PMID]_26604000[PMID]_27145208[PMID]_30109270[PMID]_27328748[PMID]_26783368[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/527276
- This record as JSON: /data/d/527276.json