Familial LCAT deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LCAT DEFICIENCY
FLD
Complete LCAT deficiency
norum disease
Number of Symptoms 30
OrphanetNr: 79293
OMIM Id: 245900
ICD-10: E78.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: LCAT deficiency
 -Rare endocrine disease
 -Rare eye disease
 -Rare genetic disease
 -Rare renal disease
Rare constitutional hemolytic anemia
 -Rare genetic disease
 -Rare hematologic disease

Comment:

gene: LCAT The histopathological features of the kidney in cases of acquired LCAT deficiency are similar to those in congenital LCAT deficiency, except that membranous nephropathy is also found, which is not generally observed in cases of congenital LCAT deficiency (PMID:24174160). Renal pathology in FLD is not only characterized by glomerular changes, but also by profound tubular changes (PMID: 23412821).

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome 24174160 IBIS 83 / 7739
2
 (HPO:0100820) Glomerulopathy 21809306 IBIS 46 / 7739
3
 (HPO:0000790) Hematuria 17183024 IBIS 106 / 7739
4
 (HPO:0000083) Renal insufficiency 24876348 IBIS 232 / 7739
5
 (HPO:0000093) Proteinuria Frequent [IBIS] 21540632 IBIS 169 / 7739
6
 (HPO:0001114) Xanthelasma 21540632 IBIS 13 / 7739
7
 (HPO:0007957) Corneal opacity 21540632 IBIS 84 / 7739
8
 (HPO:0007759) Opacification of the corneal stroma 19724202 IBIS 77 / 7739
9
 (HPO:0000613) Photophobia 21540632 IBIS 158 / 7739
10
 (HPO:0000505) Visual impairment 3989388 IBIS 297 / 7739
11
 (HPO:0004416) Precocious atherosclerosis 21540632 IBIS 12 / 7739
12
 (HPO:0000822) Hypertension 21540632 IBIS 224 / 7739
13
 (HPO:0002621) Atherosclerosis 21540632 IBIS 33 / 7739
14
 (HPO:0001897) Normocytic anemia Very frequent [IBIS] 21540632 IBIS 7 / 7739
15
 (HPO:0001895) Normochromic anemia 24174160 IBIS 7 / 7739
16
 (HPO:0001878) Hemolytic anemia 19249891 IBIS 83 / 7739
17
 (HPO:0003349) Low cholesterol esterification rates 21540632 IBIS 4 / 7739
18
 (HPO:0002155) Hypertriglyceridemia 21540632 IBIS 67 / 7739
19
 (HPO:0003077) Hyperlipidemia 24876348 IBIS 37 / 7739
20
 (HPO:0003124) Hypercholesterolemia 21540632 IBIS 53 / 7739
21
 (HPO:0003362) Increased circulating very-low-density lipoprotein cholesterol 21540632 IBIS 9 / 7739
22
 (HPO:0003119) Abnormality of lipid metabolism 24876348 IBIS 60 / 7739
23
 (HPO:0003233) Hypoalphalipoproteinemia 21540632 IBIS 18 / 7739
24
 (OMIM) Decreased lecithin:cholesterol acyltransferase mass and activity 21540632 IBIS 1 / 7739
25
 (OMIM) Decreased apoA-I and apoA-II 17183024 IBIS 1 / 7739
26
 (OMIM) Increased plasma free cholesterol 21540632 IBIS 1 / 7739
27
 (OMIM) Corneal lipid deposits 21540632 IBIS 1 / 7739
28
 (OMIM) Foam cells in bone marrow and renal glomeruli 19249891 IBIS 1 / 7739
29
 (OMIM) Increased plasma phospholipids 21540632 IBIS 1 / 7739
30
 (OMIM) Decreased plasma HDL (<1/10 of normal levels) 21540632 IBIS 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
Clinical Description OMIM In Norway, Norum and Gjone (1967) described an error of lipid metabolism in sisters with normochromic anemia, proteinuria, and corneal deposits of lipid. Total serum cholesterol was elevated, almost all of it being free cholesterol. Lack of plasma ...
Molecular genetics OMIM Humphries et al. (1988) studied the structure of the LCAT gene in patients with familial LCAT deficiency using a cDNA clone. Enzymatic digestion of DNA samples from the patients produced LCAT gene fragments which were indistinguishable from those ...
Population genetics OMIM Albers and Utermann (1981) reviewed the families with LCAT deficiency that had been observed in various parts of the world. Obligate heterozygotes in families in Norway, Canada, and France have shown normal LCAT activities. However, in a family ...