ORPHA:289560

Mitochondrial membrane protein-associated neurodegeneration

Synonyms: MPAN · NBIA due to C19orf12 mutation · NBIA4 · Neurodegeneration with brain iron accumulation due to C19orf12 mutation · Neurodegeneration with brain iron accumulation type 4

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Adolescent, Adult, Childhood
Status: active

A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Mitochondrial membrane protein-associated neurodegeneration	MPAN · NBIA due to C19orf12 mutation · NBIA4 · Neurodegeneration with brain iron accumulation due to C19orf12 mutation · Neurodegeneration with brain iron accumulation type 4
fr	Neurodégénérescence associée à la protéine de membrane mitochondriale	MPAN · NBIA liée à des mutations de C19orf12 · NBIA4 · Neurodégénérescence avec surcharge cérébrale en fer liée à des mutations de C19orf12 · Neurodégénérescence avec surcharge cérébrale en fer type 4
de	Mitochondrienmembran-Protein-assoziierte Neurodegeneration	MPAN · NBIA durch C19orf12-Gen-Mutation · NBIA4 · Neurodegeneration mit Eisenspeicherung im Gehirn Typ 4 · Neurodegeneration mit Eisenspeicherung im Gehirn durch C19orf12-Gen-Mutation
es	Neurodegeneración asociada a proteínas de membrana mitocondrial	MPAN · NBIA por una mutación en el gen C19orf12 · NBIA4 · Neurodegeneración con acumulación cerebral de hierro por una mutación en el gen C19orf12 · Neurodegeneración con acumulación cerebral de hierro tipo 4
it	Neurodegenerazione associata alle proteine della membrana mitocondriale	MPAN · NBIA da mutazione in C19orf12 · NBIA5 · Neurodegenerazione con accumulo cerebrale di ferro da mutazione di C19orf12 · Neurodegenerazione con accumulo cerebrale di ferro, tipo 4
nl	Neurodegeneratie geassocieerd met mitochondriaal membraaneiwit	MPAN · NBIA door C19orf12-mutatie · NBIA4 · Neurodegeneratie met ijzerstapeling in hersenen door C19orf12-mutatie · Neurodegeneratie met ijzerstapeling in hersenen type 4
pt	Neurodegenerescência associada a proteína de membrana mitocondrial	MPAN · NBIA por mutação em C19orf12 · Neurodegenerescência com acumulação cerebral de ferro por mutação em C19orf12
pl	Neurodegeneracja związna z białkiem błony mitochondrialnej	MPAN · NBIA z powodu mutacji C19orf12 · NBIA4 · Neurodegeneracja z gromadzeniem żelaza w mózgu typu 4 · Neurodegeneracja z gromadzeniem żelaza w mózgu z powodu mutacji C19orf12
cs	Neurodegenerace asociovaná s proteinem mitochondriální membrány	MPAN · NBIA4 · Neurodegenerace s akumulací železa v mozku, typ 4 · NBIA z důvodu mutace C19orf12 · Neurodegenerace s akumulací železa v mozku z důvodu mutace C19orf12
uk	Мітохондріальна мембранна білок-асоційована нейродегенерація	MPAN · NBIA внаслідок мутації C19orf12 · NBIA4 · Нейродегенерація з накопиченням заліза в мозку через мутацію C19orf12 · Нейродегенерація з накопиченням заліза в мозку, тип 4
zh	线粒体膜蛋白相关性神经变性	C19orf12基因突变所致神经退行性变大脑铁蓄积
tr	Mitokondriyal membran proteini-ilişkili nörodejenerasyon	MPAN · NBIA4 · C19orf12 mutasyonuna bağlı NBIA · Beyin demir birikimi tip 4 ile seyreden nörodejenerasyon · C19orf12 mutasyonuna bağlı beyin demir birikimi ile seyreden nörodejenerasyon

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614298	E		validated
ICD-10	G23.0	NTBT	attributed	validated
ICD-11	5C64.10	NTBT	index	validated
MONDO	0013674	E		validated
UMLS	C3280371	E		validated
GARD	12569	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 (2):

ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases
ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
C19ORF12	Disease-causing germline mutation(s) in	Assessed	HGNC:25443	ENSG00000131943	614297	19q12	chromosome 19 open reading frame 12	21981780[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.1 / 100 000	Worldwide	Value and class	Validated	[EXPERT]_24575447[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

26 annotations · validated 2018-03-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000708	Atypical behavior
HP:0003487	Babinski sign
HP:0001260	Dysarthria
HP:0002378	Hand tremor
HP:0001268	Mental deterioration
HP:0001324	Muscle weakness
HP:0002172	Postural instability
HP:0002063	Rigidity
HP:0001257	Spasticity
Frequent (79-30%)
HP:0002453	Abnormal globus pallidus morphology
HP:0045007	Abnormality of the substantia nigra
HP:0002607	Bowel incontinence
HP:0002067	Bradykinesia
HP:0002015	Dysphagia
HP:0001332	Dystonia
HP:0002359	Frequent falls
HP:0001288	Gait disturbance
HP:0006801	Hyperactive deep tendon reflexes
HP:0007002	Motor axonal neuropathy
HP:0000648	Optic atrophy
HP:0001300	Parkinsonism
HP:0002313	Spastic paraparesis
HP:0000020	Urinary incontinence
Occasional (29-5%)
HP:0000570	Abnormal saccadic eye movements
HP:0002362	Shuffling gait
Very rare (<4-1%)
HP:0002093	Respiratory insufficiency

Run the differential on the 9 obligate / very frequent terms

Annotation source: 23269600[PMID]_23278385[PMID]_24575447[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/289560
This record as JSON: /data/d/289560.json