Familial apolipoprotein C-II deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: APOC2 DEFICIENCY
HYPERLIPOPROTEINEMIA, TYPE IB
C-II ANAPOLIPOPROTEINEMIA
Familial apoC-II deficiency
Number of Symptoms 10
OrphanetNr: 309020
OMIM Id: 207750
ICD-10: E78.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hyperlipoproteinemia type 1
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000660) Lipemia retinalis 7 / 7739
2
(HPO:0001744) Splenomegaly 337 / 7739
3
(HPO:0001733) Pancreatitis 46 / 7739
4
(HPO:0002240) Hepatomegaly 467 / 7739
5
(HPO:0001013) Eruptive xanthomas 3 / 7739
6
(HPO:0002155) Hypertriglyceridemia 67 / 7739
7
(OMIM) Decreased plasma apolipoprotein C-II 1 / 7739
8
(OMIM) Fasting chylomicronemia 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) 'Cloudy' or 'pink' blood (lipemia) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Breckenridge et al. (1978) reported the first case of complete deficiency of apoC-II and high levels of triglycerides, in a 59-year-old man who had had chronic, gnawing, epigastric pain from the age of 18 years and diabetes for ...
Molecular genetics OMIM In studies of the family with hyperlipoproteinemia type IB reported by Cox et al. (1978), Connelly et al. (1987) identified 14 homozygotes and 23 obligate heterozygotes in the extended pedigree. In affected members of this family, Connelly et ...