ORPHA:330050

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

This disease is described under Encephalopathy due to mitochondrial and peroxisomal fission defect

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
fr	Encéphalopathie par défaut de fission mitochondriale et peroxysomale associée à DNM1L	Encéphalopathie par défaut de fission des mitochondries et peroxysomes associée à DNM1L
de	Enzephalopathie durch mitochondrialen und peroxisomalen Teilungsdefekt, DNM1L-assoziiert
es	Encefatalopatía por un defecto en la fisión mitocondrial y peroxisomal asociada a DNM1L
it	Encefalopatia letale da difetto della fissione dei mitocondri e dei perossisomi
nl	DNM1L-gerelateerde encefalopathie door defect van mitochondriale en peroxisomale deling
pt	Encefalopatia DNM1L-relacionada devida a defeitos de fissão mitocondrial e peroxissomal
pl	Śmiertelna encefalopatia spowodowana wadą rozszczepiania mitochondrialnego i peroksysomalnego
cs	Letální encefalopatie způsobená mitochondriální a peroxisomální poruchou štěpení
uk	Енцефалопатія, повязана з DNM1L, зумовлена дефектом мітохондріального та пероксисомного поділу
zh	线粒体和过氧化物酶体裂变缺陷所致DNM1L相关脑病
tr	Mitokondriyal ve peroksizomal fisyon defektine bağlı DNM1L -ilişkili ensefalopati

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614388	E		validated
ICD-10	E88.8	NTBT	attributed	validated
ICD-11	5C5Y	NTBT	attributed	validated
ICD-11	LD2E	NTBT	attributed	validated
MONDO	0013726	E		validated
UMLS	C3280660	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:527276Encephalopathy due to mitochondrial and peroxisomal fission defect
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DNM1L	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:2973	ENSG00000087470	603850	12p11.21	dynamin 1 like	17460227[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		11 cases	Worldwide	Case(s)	Validated	17460227[PMID]_26825290[PMID]_26992161[PMID]_26604000[PMID]_27145208[PMID]_30109270[PMID]_27328748[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]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

30 annotations · validated 2020-03-05

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0012103	Abnormality of the mitochondrion
Frequent (79-30%)
HP:0001344	Absent speech
HP:0410263	Brain imaging abnormality
HP:0002376	Developmental regression
HP:0012707	Elevated brain lactate level by MRS
HP:0001263	Global developmental delay
HP:0002540	Inability to walk
HP:0002151	Increased circulating lactate concentration
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0001250	Seizure
HP:0002133	Status epilepticus
Occasional (29-5%)
HP:0002381	Aphasia
HP:0001488	Bilateral ptosis
HP:0002069	Bilateral tonic-clonic seizure
HP:0001272	Cerebellar atrophy
HP:0012569	Delayed menarche
HP:0002506	Diffuse cerebral atrophy
HP:0001332	Dystonia
HP:0002384	Focal impaired awareness seizure
HP:0007359	Focal-onset seizure
HP:0001288	Gait disturbance
HP:0011471	Gastrostomy tube feeding in infancy
HP:0002123	Generalized myoclonic seizure
HP:0006801	Hyperactive deep tendon reflexes
HP:0010553	Oculogyric crisis
HP:0002650	Scoliosis
HP:0003202	Skeletal muscle atrophy
HP:0000486	Strabismus
HP:0001337	Tremor

Annotation source: 30850373[PMID]_26604000[PMID]_27145208[PMID]