LCAT deficiency
Synonyms: Lecithin-cholesterol acyltransferase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | LCAT deficiency | Lecithin-cholesterol acyltransferase deficiency |
| fr | Déficit en LCAT | Déficit en lécithine-cholestérol-acyltransférase |
| de | LCAT-Mangel | Lecitin-Cholesterin-Acyltransferase-Mangel |
| es | Deficiencia de LCAT | Deficiencia de lecitina-colesterol-acil-transferasa |
| it | Deficit di LCAT | Deficit di lecitina-colesterolo-aciltransferasi |
| nl | LCAT-deficiëntie | Lecithine-cholesterol-acyltransferasedeficiëntie |
| pt | Deficiência de LCAT | Deficiência de lecitina-colesterol aciltransferase · Doença de Norum · Doença de olho de peixe · Ictiose oftálmica |
| pl | Niedobór LCAT | Niedobór acylotransferazy lecytynowo-cholesterolowej |
| cs | Nedostatek LCAT | Deficit lecitin cholesterol acyltransferázy · Choroba "rybích ocí · Deficit lecitincholesterolacyltransferázy · Choroba "rybích očí |
| uk | Дефіцит LCAT | Дефіцит лецитин-холестерин-ацилтрансферази |
| zh | 卵磷脂酰基转移酶缺乏症 | 卵磷脂-胆固醇酰基转移酶缺乏症 |
| tr | LCAT eksikliği | Lesitin-kolesterol açiltransferaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136120 | BTNT | validated | |
| OMIM | 245900 | BTNT | validated | |
| ICD-10 | E78.6 | NTBT | inclusion | validated |
| ICD-11 | 5C81.0 | NTBT | attributed | validated |
| MONDO | 0018999 | E | validated | |
| MeSH | D007863 | E | validated | |
| UMLS | C5779633 | E | validated | |
| MedDRA | 10077917 | 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 (4):
- ORPHA:31153Hypoalphalipoproteinemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| LCAT | ORPHA:79292Fish-eye disease | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6522 | ENSG00000213398 | 606967 | 16q22.1 | lecithin-cholesterol acyltransferase | 9162740[PMID] |
| LCAT | ORPHA:79293Familial LCAT deficiency | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6522 | ENSG00000213398 | 606967 | 16q22.1 | lecithin-cholesterol acyltransferase | 9162740[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 125 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.
HPO phenotypes
13 annotations · validated 2021-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0031799 | Decreased apolipoprotein AI level | |
| HP:0002155 | Hypertriglyceridemia | |
| Frequent (79-30%) | ||
| HP:0002621 | Atherosclerosis | |
| HP:0007957 | Corneal opacity | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0001878 | Hemolytic anemia | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0005181 | Premature coronary artery atherosclerosis | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0000505 | Visual impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 34256778[PMID]_32998975[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/650
- This record as JSON: /data/d/650.json