Ocular cystinosis
Synonyms: Adult-onset cystinosis · Non-nephropathic cystinosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ocular cystinosis | Adult-onset cystinosis · Non-nephropathic cystinosis |
| fr | Cystinose oculaire | Cystinose de l'adulte · Cystinose non néphropathique |
| de | Cystinose, okuläre | |
| es | Cistinosis ocular | Cistinosis de inicio en el adulto · Cistinosis no nefropática |
| it | Cistinosi oculare | Cistinosi a esordio nell'età adulta · Cistinosi non nefropatica |
| nl | Oculaire cystinose | Cystinose met volwassen aanvang · Niet-nefropathische cystinose |
| pt | Cistinose ocular | |
| pl | Cystynoza oczna | Cystynoza nienefropatyczna · Cystynoza o początku w wieku dorosłym |
| cs | Okulární cystinóza | Non-nefropatická cystinóza · Cystinóza dospělých |
| uk | Очний цистиноз | Цистиноз у дорослих · Ненефропатичний цистиноз |
| zh | 眼胱氨酸贮积症 | 非肾病性胱氨酸病 |
| tr | Oküler sistinoz | Erişkin başlangıçlı sistinoz · Nefropatik olmayan sistinoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219750 | E | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| MONDO | 0009064 | E | validated | |
| MeSH | C535765 | E | validated | |
| UMLS | C2931013 | 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:213Cystinosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare endocrine diseases; rare bone diseases - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNS | Disease-causing germline mutation(s) in | Assessed | HGNC:2518 | ENSG00000040531 | 606272 | 17p13.2 | cystinosin, lysosomal cystine transporter | 20301574[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
4 annotations · validated 2020-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000531 | Corneal crystals | |
| HP:0032639 | Elevated leukocyte cystine | |
| HP:0000613 | Photophobia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25345100[PMID]_10625078[PMID]_25345100[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411641
- This record as JSON: /data/d/411641.json