ORPHA:98676

Autosomal recessive isolated optic atrophy

Synonyms: Autosomal recessive non-syndromic optic atrophy

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

A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive isolated optic atrophy	Autosomal recessive non-syndromic optic atrophy
fr	Atrophie optique isolée autosomique récessive	Atrophie optique non syndromique autosomique récessive
de	Optikusatrophie, isolierte, autosomal-rezessive	Optikusatrophie, nicht-syndromale, autosomal-rezessive
es	Atrofia óptica autosómica recesiva aislada	Atrofia óptica autosómica recesiva no sindrómica
it	Atrofia ottica isolata, autosomica recessiva
nl	Autosomaal recessieve geïsoleerde opticusatrofie	Autosomaal recessieve niet-syndromale opticusatrofie
pt	Atrofia óptica isolada autossómica recessiva
pl	Autosomalny recesywny izolowany zanik nerwu wzrokowego	= en
cs	Autozomálně recesivní izolovaná atrofie optiku	= en
uk	Аутосомно-рецесивна ізольована атрофія зорового нерва	Аутосомно-рецесивна несиндромальна атрофія зорового нерва
zh	常染色体隐性遗传孤立型视神经萎缩	常染色体隐性非综合征性视神经萎缩
tr	Otozomal resesif izole optik atrofi	Otozomal Çekinik sendromik olmayan optik atrofi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	258500	BTNT		validated
OMIM	616289	BTNT		validated
OMIM	616732	BTNT		validated
OMIM	617302	BTNT		validated
OMIM	620583	BTNT		validated
OMIM	620629	BTNT		validated
ICD-10	H47.2	NTBT	attributed	validated
ICD-11	9C40.8	NTBT	index	validated
MONDO	0014753	E		validated
UMLS	C5680331	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:97966Rare ophthalmic disorder

Parents in the classifications (1):

ORPHA:98671Hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:99012OBSOLETE: Autosomal recessive optic atrophy, OPA6 type referred to · inactive
ORPHA:441344OBSOLETE: Autosomal recessive optic atrophy, OPA9 type referred to · inactive

Genes

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ACO2	Disease-causing germline mutation(s) in	Assessed	HGNC:118	ENSG00000100412	100850	22q13.2	aconitase 2	25351951[PMID]
MCAT	Disease-causing germline mutation(s) in	Assessed	HGNC:29622	ENSG00000100294	614479	22q13.2	malonyl-CoA-acyl carrier protein transacylase	31915829[PMID]
MECR	Disease-causing germline mutation(s) in	Assessed	HGNC:19691	ENSG00000116353	608205	1p35.3	mitochondrial trans-2-enoyl-CoA reductase	37734847[PMID]
RTN4IP1	Disease-causing germline mutation(s) in	Assessed	HGNC:18647	ENSG00000130347	610502	6q21	reticulon 4 interacting protein 1	26593267[PMID]
YME1L1	Disease-causing germline mutation(s) in	Assessed	HGNC:12843	ENSG00000136758	607472	10p12.1	YME1 like 1 ATPase	27495975[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		5 cases	Worldwide	Case(s)	Validated	14508503[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_14508503[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/98676
This record as JSON: /data/d/98676.json