Apolipoprotein A-I deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HDL CHOLESTEROL, LOW SERUM
HYPOALPHALIPOPROTEINEMIA, FAMILIAL
HIGH DENSITY LIPOPROTEIN DEFICIENCY
FAMILIAL HDL DEFICIENCY
FHD
HDLC
FHA
HDLD
Familial hypoalphalipoproteinemia
Familial apoA-I deficiency
ApoA-I deficiency
Number of Symptoms 11
OrphanetNr: 425
OMIM Id: 604091
ICD-10: E78.6
UMLs: C0342898
C1704429
MeSH: D052456
MedDRA: 10065133
Snomed: 15346004
238095002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypoalphalipoproteinemia
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
2
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
3
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
4
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
5
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
6
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
7
 (HPO:0003233) Hypoalphalipoproteinemia 9888879 IBIS 18 / 7739
8
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
9
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (HPO:0030089) Abnormal muscle fiber protein expression Frequent [Orphanet] 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels ...
Clinical Description OMIM As in Tangier disease, an autosomal recessive disorder, the dominantly inherited disorder familial hypoalphalipoproteinemia shows a reduction in cellular cholesterol efflux (Marcil et al., 1999).
Molecular genetics OMIM In affected members of French Canadian families with hypoalphalipoproteinemia, Brooks-Wilson et al. (1999) identified heterozygous mutations in the ABC1 gene (600046.0001-600046.0004). One of the families had previously been studied by Marcil et al. (1995).