ORPHA:67047

3-methylglutaconic aciduria type 3

Synonyms: Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3 · Costeff optic atrophy syndrome · Costeff syndrome · Infantile optic atrophy with chorea and spastic paraplegia · MGA3

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

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	3-methylglutaconic aciduria type 3	Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3 · Costeff optic atrophy syndrome · Costeff syndrome · Infantile optic atrophy with chorea and spastic paraplegia · MGA3
fr	Acidurie 3-méthylglutaconique type 3	AMG3 · Atrophie optique de Costeff · Atrophie optique type 3 autosomique récessive · Syndrome d'atrophie optique-plus autosomique récessif · Syndrome de Costeff
de	3-Methylglutaconazidurie Typ 3	Costeff-Syndrom · MGA 3 · Optikusatrophie plus-Syndrom, autosomal-rezessives · Optikusatrophie, autosomal-rezessive, Typ 3 · Optikusatrophie, infantile, mit Chorea und spastischer Paraplegie · Optikusatrophie-Syndrom Typ Costeff
es	Aciduria 3-metilglutacónica tipo 3	Atrofia óptica autosómica recesiva tipo 3 · Atrofia óptica infantil con corea y paraplejía espástica · MGA 3 · Síndrome de Costeff · Síndrome de atrofia óptica de Costeff · Síndrome de atrofia óptica plus autosómica recesiva
it	Aciduria 3-metilglutaconica, tipo 3	Atrofia ottica autosomica recessiva, tipo 3 · Atrofia ottica infantile con corea e paraplegia spastica · MGA 3 · MGA3 · Sindrome atrofia ottica plus, autosomica recessiva · Sindrome da atrofia ottica di Costeff · Sindrome di Costeff
nl	3-methylglutaconacidurie type 3	MGA3 · Opticusatrofiesyndroom van Costeff · Syndroom van Costeff · Autosomaal recessieve opticusatrofie type 3 · Autosomaal recessieve opticusatrofie-plus-syndroom · Infantiele opticusatrofie met chorea en spastische paraplegie
pt	Acidúria 3-metilglutacónica tipo 3	Atrofia óptica autossómica recessiva tipo 3 · Atrofia óptica infantil com coreia e paraplegia espástica · MGA3 · Síndrome Costeff · Síndrome de atrofia óptica Costeff · Síndrome de atrofia ótica plus autossómica recessiva
pl	Kwasica 3-metyloglutakonowa typu 3	Autosomal recessive optic atrophy plus syndromeAutosomalny recesywny zespół zaniku nerwu wzrokowego plus · Autosomalny recesywny zanik nerwu wzrokowego typu 3 · Dziecięcy zanik nerwu wzrokowego z pląsawicą i paraplegią spastyczną · MGA3 · Zespół Costeffa · Zespół zaniku nerwu wzrokowego Costeffa
cs	3-methylglutakonová acidurie, typ 3	Syndrom Costeffovy atrofie optiku · Infantilní atrofie optiku s choreou a spastickou paraplegií · MGA3 · Syndrom autozomálně recesivní atrofie optiku plus · Autozomálně recesivní atrofie optiku, typ 3 · Costeffův syndrom
uk	3-метилглутаконова ацидурія, тип 3	Синдром аутосомно-рецесивної атрофії зорового нерва плюс · Аутосомно-рецесивна атрофія зорового нерва, тип 3 · Синдром атрофії зорового нерва Костеффа · Синдром Костеффа · Дитяча атрофія зорового нерва з хореєю та спастичною параплегією · MGA3
zh	3-甲基戊二酸尿症3型	小儿视神经萎缩伴舞蹈症和痉挛性截瘫
tr	3-metilglutakonik asidüri tip 3	MGA3 · Costeff sendromu · Costeff optik atrofi sendromu · Otozomal Çekinik optik atrofi tip 3 · Otozomal Çekinik optik atrofi artı sendromu · Kore ve spastik paraplejili infantil optik atrofi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	258501	E		validated
ICD-10	E71.1	NTBT	attributed	validated
ICD-11	5C50.E0	NTBT	index	validated
MONDO	0009787	E		validated
MeSH	C535311	E		validated
UMLS	C0574084	E		validated
GARD	5663	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:68367Rare inborn error of metabolism

Parents in the classifications (3):

ORPHA:2899023-methylglutaconic aciduria
rare inborn errors of metabolism; rare genetic diseases
ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MICOS13	Disease-causing germline mutation(s) in	Assessed	HGNC:33702	ENSG00000174917	616658	19p13.3	mitochondrial contact site and cristae organizing system subunit 13	27485409[PMID]
OPA3	Disease-causing germline mutation(s) in	Assessed	HGNC:8142	ENSG00000125741	606580	19q13.32	outer mitochondrial membrane lipid metabolism regulator OPA3	20301646[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

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

9 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003535	3-Methylglutaconic aciduria
HP:0001266	Choreoathetosis
HP:0000505	Visual impairment
Frequent (79-30%)
HP:0001251	Ataxia
HP:0001260	Dysarthria
HP:0001249	Intellectual disability
HP:0000639	Nystagmus
HP:0002313	Spastic paraparesis
Occasional (29-5%)
HP:0001288	Gait disturbance

Run the differential on the 3 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/67047
This record as JSON: /data/d/67047.json