Familial LCAT deficiency
Synonyms: Complete LCAT deficiency · FLD · Norum disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial LCAT deficiency | Complete LCAT deficiency · FLD · Norum disease |
| fr | Déficit familial complet en LCAT | Déficit complet en LCAT · FLD · Maladie de Norum |
| de | LCAT-Mangel, familiärer | FLD · LCAT-Mangel, kompletter · Norum-Krankheit |
| es | Deficiencia familiar de LCAT | Deficiencia completa de LCAT · Enfermedad de Norum · FLD |
| it | Deficit familiare di LCAT | Deficit completo di LCAT · FLD · Malattia di Norum |
| nl | Familiale LCAT-deficiëntie | FLD · Volledige LCAT-deficiëntie · Ziekte van Norum |
| pt | Deficiência de LCAT familiar | |
| pl | Rodzinny Niedobór LCAT | Całkowity Niedobór LCAT · Choroba Noruma · FLD |
| cs | Familiární deficit LCAT | Kompletní deficit LCAT · FLD · Norumova choroba |
| uk | Сімейний дефіцит LCAT | Повна недостатність LCAT · FLD · Хвороба Норума |
| zh | 家族性LCAT缺陷症 | 完全性LCAT缺陷症 |
| tr | Ailesel LCAT eksikliği | FLD · Norum hastalığı · Tam LCAT eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245900 | E | validated | |
| ICD-10 | E78.6 | NTBT | attributed | validated |
| ICD-11 | 5C81.0 | NTBT | index | validated |
| MONDO | 0009515 | E | validated | |
| UMLS | C0023195 | E | validated | |
| GARD | 4011 | 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:650LCAT deficiency
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders; rare endocrine diseases; rare transplant-related disorders - ORPHA:182043Rare constitutional hemolytic anemia
rare genetic diseases; rare hematological diseases
No children.
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] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79293
- This record as JSON: /data/d/79293.json