ORPHA:485421

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Synonyms: Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Type: Etiological subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Age of onset: Infancy
Status: active

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	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
fr	Encéphalopathie par défaut de fission mitochondriale et peroxysomale associée à MFF	Encéphalopathie par défaut de fission des mitochondries et peroxysomes associée à MFF · Syndrome d'atrophie optique-neuropathie périphérique-encéphalopathie Leigh-like
de	MFF-abhängige Enzephalopathie durch mitochondrialen und peroxisomalen Teilungsdefekt	Leigh-ähnliche Basalganglienkrankheit-Optikusatrophie-periphere Neuropathie-Syndrom · Leigh-ähnliche Enzephalopathie-Optikusatrophie-periphere Neuropathie-Syndrom
es	Encefalopatía por un defecto en la fisión mitocondrial y peroxisomal asociada al gen MFF	Síndrome de encefalopatía similar a Leigh-atrofia óptica-neuropatía periférica · Síndrome de enfermedad de los ganglios basales similar a Leigh-atrofia óptica-neuropatía periférica
it	Malattia dei gangli basali simil-Leigh - atrofia ottica - neuropatia periferica
nl	MFF-gerelateerde encefalopathie door defect van mitochondriale en peroxisomale deling	Leigh-achtige encefalopathie - opticusatrofie - perifere neuropathie-syndroom · Leigh-achtige ziekte van de basale ganglia - opticusatrofie - perifere neuropathie-syndroom
pt	Encefalopatia MFF-relacionada devida a defeitos de fissão mitocondrial e peroxissomal	Síndrome de encefalopatia semelhante a Leigh-atrofia óptica-neuropatia periférica
pl	Zespół choroby zwojów podstawnych podobnej do zespołu Leigha, zaniku nerwu wzrokowego i neuropatii obwodowej	= en
cs	MFF asociovaná encefalopatie způsobená poruchou mitochondriálního a peroxizomálního štěpení	Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome · Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Syndrom zahrnující Leigh-like encefalopatii, optickou atrofii a periferní neuropatii · Syndrom zahrnující Leigh-like onemocnění bazálních ganglií, optickou atrofii a periferní neuropatii
uk	MFF-асоційована енцефалопатія, зумовлена дефектом мітохондріального та пероксисомного поділу	Синдром Лі-подібної хвороби базальних гангліїв - атрофії зорового нерва - периферичної нейропатії · Синдром Лі-подібна енцефалопатія - атрофія зорового нерва - периферична нейропатія
zh	线粒体和过氧化物酶体分裂缺陷导致的MFF相关性脑病	Leigh样基底节病-视神经萎缩-周围神经病变综合征
tr	Mitokondriyal ve peroksizomal fisyon defektine bağlı MFF-ilişkili ensefalopati	Leigh-benzeri ensefalopati-optik atrofi-periferik nöropati sendromu · Leigh-benzeri bazal gangliya hastalığı-optik atrofi-periferik nöropati sendromu

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	617086	E		validated
ICD-10	E88.8	NTBT	attributed	validated
ICD-11	5C5Y	NTBT	attributed	validated
MONDO	0014905	E		validated
UMLS	C4310726	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):

ORPHA:98006Rare neurologic disease

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.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MFF	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		4 cases	Worldwide	Case(s)	Validated	26783368[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_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

29 annotations · validated 2020-03-09

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0012751	Abnormal basal ganglia MRI signal intensity
HP:0012087	Abnormal mitochondrial shape
HP:0012696	Abnormal thalamic MRI signal intensity
HP:0000649	Abnormality of visual evoked potentials
HP:0008936	Axial hypotonia
HP:0001272	Cerebellar atrophy
HP:0000762	Decreased nerve conduction velocity
HP:0002376	Developmental regression
HP:0002015	Dysphagia
HP:0002353	EEG abnormality
HP:0000544	External ophthalmoplegia
HP:0011968	Feeding difficulties
HP:0004302	Functional motor deficit
HP:0001347	Hyperreflexia
HP:0002521	Hypsarrhythmia
HP:0000758	Impaired use of nonverbal behaviors
HP:0001270	Motor delay
HP:0001324	Muscle weakness
HP:0040288	Nasogastric tube feeding
HP:0000648	Optic atrophy
HP:0000543	Optic disc pallor
HP:0012736	Profound global developmental delay
HP:0005484	Secondary microcephaly
HP:0001250	Seizure
HP:0025112	Sound sensitivity
HP:0001257	Spasticity
HP:0000505	Visual impairment
Occasional (29-5%)
HP:0011097	Epileptic spasm
HP:0001510	Growth delay

Annotation source: 26783368[PMID]_30361041[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/485421
This record as JSON: /data/d/485421.json