LCAT deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Lecithin-cholesterol acyltransferase deficiency |
| Number of Symptoms | 26 |
| OrphanetNr: | 650 |
| OMIM Id: |
136120
245900 |
| ICD-10: |
E78.6 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 125 cases |
| Inheritance: |
Autosomal recessive 24174160 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hypoalphalipoproteinemia
-Rare endocrine disease -Rare genetic disease Metabolic disease with corneal opacity -Rare eye disease -Rare genetic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease |
Comment:
| 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:
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(HPO:0000083) | Renal insufficiency | Frequent [Orphanet] | 24876348 | IBIS | 232 / 7739 | |
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(HPO:0000790) | Hematuria | Frequent [Orphanet] | 17183024 | IBIS | 106 / 7739 | |
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(HPO:0000100) | Nephrotic syndrome | 24174160 | IBIS | 83 / 7739 | ||
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(HPO:0000093) | Proteinuria | Frequent [Orphanet] | 21540632 | IBIS | 169 / 7739 | |
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(HPO:0100820) | Glomerulopathy | 21809306 | IBIS | 46 / 7739 | ||
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(HPO:0002907) | Microscopic hematuria | Frequent [Orphanet] | 17452402 | IBIS | 27 / 7739 | |
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(HPO:0001114) | Xanthelasma | 21540632 | IBIS | 13 / 7739 | ||
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(HPO:0000505) | Visual impairment | Occasional [Orphanet] | 3989388 | IBIS | 297 / 7739 | |
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(HPO:0007759) | Opacification of the corneal stroma | Very frequent [Orphanet] | 12886512 | IBIS | 77 / 7739 | |
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(HPO:0000613) | Photophobia | 21540632 | IBIS | 158 / 7739 | ||
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(HPO:0007957) | Corneal opacity | Very frequent [Orphanet] hallmark [HPO] | 24876348 | IBIS | 84 / 7739 | |
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 1582035 | IBIS | 467 / 7739 | |
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 1582035 | IBIS | 337 / 7739 | |
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(HPO:0004416) | Precocious atherosclerosis | Occasional [Orphanet] | 21540632 | IBIS | 12 / 7739 | |
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(HPO:0002621) | Atherosclerosis | Occasional [Orphanet] | 21540632 | IBIS | 33 / 7739 | |
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 21540632 | IBIS | 224 / 7739 | |
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(HPO:0001895) | Normochromic anemia | 24174160 | IBIS | 7 / 7739 | ||
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(HPO:0001878) | Hemolytic anemia | Very frequent [Orphanet] | 21540632 | IBIS | 83 / 7739 | |
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(HPO:0003124) | Hypercholesterolemia | Very frequent [Orphanet] | 21540632 | IBIS | 53 / 7739 | |
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(HPO:0003233) | Hypoalphalipoproteinemia | 24174160 | IBIS | 18 / 7739 | ||
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(HPO:0003119) | Abnormality of lipid metabolism | Very frequent [Orphanet] | 24876348 | IBIS | 60 / 7739 | |
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(HPO:0002155) | Hypertriglyceridemia | Very frequent [Orphanet] | 24876348 | IBIS | 67 / 7739 | |
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(HPO:0003349) | Low cholesterol esterification rates | 21540632 | IBIS | 4 / 7739 | ||
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(HPO:0003362) | Increased circulating very-low-density lipoprotein cholesterol | 21540632 | IBIS | 9 / 7739 | ||
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(HPO:0003077) | Hyperlipidemia | Very frequent [Orphanet] | 24876348 | IBIS | 37 / 7739 | |
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(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 22271127 | IBIS | 129 / 7739 |
Associated genes:
| LCAT; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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