Autosomal recessive optic atrophy, OPA7 type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive optic atrophy, OPA7 type | |
| fr | Atrophie optique autosomique récessive type OPA7 | |
| de | Optikusatrophie, autosomal-rezessive, Typ 7 | OPA7 |
| es | Atrofia óptica autosómica recesiva tipo OPA7 | |
| it | Atrofia ottica autosomica recessiva, tipo OPA7 | |
| nl | Autosomaal recessieve opticusatrofie, type OPA7 | Autosomaal recessieve optische atrofie, type OPA7 |
| pt | Atrofia óptica autossómica recessiva, tipo OPA7 | |
| pl | Autosomalny recesywny zanik nerwu wzrokowego, typ OPA7 | |
| cs | Autozomálně recesivní atrofie optiku, typ OPA7 | |
| uk | Аутосомно-рецесивна атрофія зорового нерва, тип OPA7 | |
| zh | 常染色体隐性遗传视神经萎缩OPA7型 | |
| tr | Otozomal resesif optik atrofi, OPA7 tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612989 | E | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 9C40.B1 | NTBT | attributed | validated |
| MONDO | 0013069 | E | validated | |
| UMLS | C5190807 | 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):
Parents in the classifications (2):
- ORPHA:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| TMEM126A | Disease-causing germline mutation(s) in | Assessed | HGNC:25382 | ENSG00000171202 | 612988 | 11q14.1 | transmembrane protein 126A | 19327736[PMID]_22815638[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22815638[PMID]_20405026[PMID]_19327736[PMID] |
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 22815638[PMID]_20405026[PMID]_19327736[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/227976
- This record as JSON: /data/d/227976.json