Apolipoprotein A-I deficiency
Synonyms: ApoA-I deficiency · Familial apoA-I deficiency · Familial hypoalphalipoproteinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Apolipoprotein A-I deficiency | ApoA-I deficiency · Familial apoA-I deficiency · Familial hypoalphalipoproteinemia |
| fr | Déficit en apolipoprotéine A-I | Déficit en ApoA-I · Déficit familial en ApoA-I · Hypoalphalipoprotéinémie familiale |
| de | Apolipoprotein A-I-Mangel | Apo A I-Mangel · Familiärer Apolipoprotein A-I-Mangel · Hypoalphalipoproteinämie, familiäre |
| es | Deficiencia de apolipoproteína A-I | Deficiencia de apoA-I · Deficiencia de apoA-I familiar · Hipoalfalipoproteinemia familiar |
| it | Deficit di apolipoproteina A-I | Deficit familiare di apoA-I · Deficiti di ApoA-I · Ipoalfalipoproteinemia familiare |
| nl | Apolipoproteïne A-I-deficiëntie | ApoA-I-deficiëntie · Familiale apoA-I-deficiëntie · Familiale hypoalfalipoproteïnemie |
| pt | Deficiência de apolipoproteina A-I | Deficiência de apoA-I · Deficiência de apoA-I familiar · Hipoalfalipoproteinemia familiar |
| pl | Niedobór apolipoproteiny A-I | Hipoalfalipoproteinemia rodzinna · Niedobór ApoA-I · Rodzinny Niedobór apoA-I |
| cs | Deficit apolipoproteinu A-I | Deficit apoA-I · Familiární deficit apoA-I · Familiární hypoalfalipoproteinémie |
| uk | Дефіцит аполіпопротеїну A-I | Дефіцит ApoA-I · Сімейний дефіцит апоА-I · Сімейна гіпоальфаліпопротеїнемія |
| zh | 载脂蛋白A-Ⅰ缺乏 | 家族性低α脂蛋白血症 |
| tr | Apolipoprotein A-I eksikliği | ApoA-I eksikliği · Ailesel apoA-I eksikliği · Ailesel hipoalfalipoproteinemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604091 | BTNT | validated | |
| OMIM | 618463 | BTNT | validated | |
| ICD-10 | E78.6 | NTBT | attributed | validated |
| ICD-11 | 5C81.0 | NTBT | index | validated |
| MONDO | 0100189 | E | validated | |
| UMLS | C0342898 | E | validated | |
| GARD | 2872 | E | validated | |
| MedDRA | 10065133 | 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 (1):
- ORPHA:31153Hypoalphalipoproteinemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29 | ENSG00000165029 | 600046 | 9q31.1 | ATP binding cassette subfamily A member 1 | 15158913[PMID]_22959828[PMID] |
| APOA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:600 | ENSG00000118137 | 107680 | 11q23.3 | apolipoprotein A1 | 8240372[PMID]_8282791[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | 17991756[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2014[OTHER] |
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
9 annotations · validated 2021-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0002621 | Atherosclerosis | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0007759 | Opacification of the corneal stroma | |
| Frequent (79-30%) | ||
| HP:0001681 | Angina pectoris | |
| HP:0000622 | Blurred vision | |
| HP:0005181 | Premature coronary artery atherosclerosis | |
| HP:0001114 | Xanthelasma | |
| HP:0000991 | Xanthomatosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28178939[PMID]_31003938[PMID]_32022753[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/425
- This record as JSON: /data/d/425.json