ORPHA:79292
Fish-eye disease
Synonyms: FED · Partial LCAT deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fish-eye disease | FED · Partial LCAT deficiency |
| fr | Maladie des yeux de poisson | Déficit partiel en LCAT · FED · Ichtyophtalmie |
| de | Fischaugen-Syndrom | FED · LCAT-Mangel, partieller |
| es | Enfermedad del ojo de pez | Deficiencia parcial de LCAT · FED |
| it | Malattia degli occhi da pesce | Deficit parziale di LCAT · FED |
| nl | Fish-eye ziekte | FED · Partiële LCAT-deficiëntie · Visoogziekte |
| pt | Doença de olho de peixe | |
| pl | Choroba rybiego oka | Częściowy Niedobór LCAT · FED |
| cs | Nemoc rybích očí | FED · Parciální deficit LCAT |
| uk | Хвороба рибячого ока | FED · Часткова недостатність LCAT |
| zh | 鱼眼病 | 部分LCAT缺陷 |
| tr | Balık gözü hastalığı | FED · Kısmi LCAT eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136120 | E | validated | |
| ICD-10 | E78.6 | NTBT | attributed | validated |
| ICD-11 | 5C81.0 | NTBT | index | validated |
| MONDO | 0007620 | E | validated | |
| UMLS | C0342895 | E | validated | |
| GARD | 6450 | 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:650LCAT deficiency
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders; rare endocrine diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LCAT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6522 | ENSG00000213398 | 606967 | 16q22.1 | lecithin-cholesterol acyltransferase | 9162740[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
6
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007957 | Corneal opacity | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| Occasional (29-5%) | ||
| HP:0001681 | Angina pectoris | |
| HP:0002621 | Atherosclerosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001744 | Splenomegaly | |
| HP:0000505 | Visual impairment | |
Run the differential on the 2 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79292
- This record as JSON: /data/d/79292.json