ORPHA:98619
Rare isolated myopia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare isolated myopia | |
| fr | Myopie isolée rare | |
| de | Myopie, isolierte, seltene | |
| es | Miopía aislada rara | |
| it | Miopia isolata rara | |
| nl | Zeldzame geïsoleerde myopie | |
| pt | Miopia isolada rara | |
| pl | Rzadka izolowana krótkowzroczność | |
| cs | Vzácná izolovaná myopie | |
| uk | Рідкісна ізольована короткозорість | |
| zh | 罕见单纯性近视 | |
| tr | Nadir izole miyopi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608908 | BTNT | validated | |
| OMIM | 614292 | BTNT | validated | |
| OMIM | 615431 | BTNT | validated | |
| OMIM | 615946 | BTNT | validated | |
| ICD-10 | H52.1 | NTBT | attributed | validated |
| ICD-11 | 9D00.0 | NTBT | attributed | validated |
| MONDO | 0020207 | E | validated | |
| UMLS | C4751232 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98618Rare refraction anomaly
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRPAP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6701 | ENSG00000163956 | 104225 | 4p16.3 | LDL receptor related protein associated protein 1 | 23830514[PMID] |
| P3H2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19317 | ENSG00000090530 | 610341 | 3q28 | prolyl 3-hydroxylase 2 | 21885030[PMID] |
| SCO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10604 | ENSG00000284194 | 604272 | 22q13.33 | synthesis of cytochrome C oxidase 2 | 23643385[PMID] |
| SLC39A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:20502 | ENSG00000139540 | 608730 | 12q13.3 | solute carrier family 39 member 5 | 24891338[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98619
- This record as JSON: /data/d/98619.json