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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Apolipoprotein A-I deficiency | |
| Synonyms |
ApoA-I deficiency Familial hypoalphalipoproteinemia Familial apoA-I deficiency |
|
| Definitions |
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_425 |
|
| alternative_term |
ApoA-I deficiency Familial hypoalphalipoproteinemia Familial apoA-I deficiency
|
|
| definition |
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
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|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=425 |
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| has_age_of_onset |
All ages
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|
| has_inheritance |
Autosomal dominant
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|
| hasDbXref |
OMIM:618463 ICD-11:5C81.0 ICD-10:E78.6 MedDRA:10065133 UMLS:C0342898 OMIM:604091
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|
| label |
Apolipoprotein A-I deficiency
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|
| notation |
ORPHA:425
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|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_425
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|
| prefLabel |
Apolipoprotein A-I deficiency
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|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 30.0 (Family(ies)) Europe AND has_point_prevalence_range : <1 / 1 000 000
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| treeView | ||
| subClassOf |
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