MCID: HYP289
MIFTS: 24

Hyperlipoproteinemia, Type Ib

Categories: Genetic diseases, Metabolic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperlipoproteinemia, Type Ib

MalaCards integrated aliases for Hyperlipoproteinemia, Type Ib:

Name: Hyperlipoproteinemia, Type Ib 54 13
Familial Apolipoprotein C-Ii Deficiency 56 69
Apolipoprotein C-Ii Deficiency 24 69
Hyperlipoproteinemia Type Ib 71
Apolipoprotein C2 Deficiency 29
Familial Apoc-Ii Deficiency 56
Hyperlipoproteinemia 1b 71
Apolipoprotein C-Ii 13
Apoc2 Deficiency 71
Hlpp1b 71

Characteristics:

Orphanet epidemiological data:

56
familial apolipoprotein c-ii deficiency
Inheritance: Autosomal recessive;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
transfusion of plasma, which has apoc-ii, causes decrease in plasma triglycerides


HPO:

32
hyperlipoproteinemia, type ib:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 207750
Orphanet 56 ORPHA309020
UMLS via Orphanet 70 C0268199 C1720779
ICD10 via Orphanet 34 E78.3
MedGen 40 C1720779

Summaries for Hyperlipoproteinemia, Type Ib

UniProtKB/Swiss-Prot : 71 Hyperlipoproteinemia 1B: Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.

MalaCards based summary : Hyperlipoproteinemia, Type Ib, also known as familial apolipoprotein c-ii deficiency, is related to hypertriglyceridemia and coronary artery disease, and has symptoms including hypertriglyceridemia, hepatomegaly and splenomegaly. An important gene associated with Hyperlipoproteinemia, Type Ib is APOC2 (Apolipoprotein C2).

Description from OMIM: 207750

Related Diseases for Hyperlipoproteinemia, Type Ib

Diseases in the Hyperlipoproteinemia, Type Iii family:

Hyperlipoproteinemia, Type 1d Hyperlipoproteinemia, Type Ib
Hyperlipoproteinemia Type Iv

Diseases related to Hyperlipoproteinemia, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 9.9
2 coronary artery disease 9.8
3 hepatitis 9.8
4 artery disease 9.8
5 pancreatitis 9.8
6 encephalopathy 9.8

Graphical network of the top 20 diseases related to Hyperlipoproteinemia, Type Ib:



Diseases related to Hyperlipoproteinemia, Type Ib

Symptoms & Phenotypes for Hyperlipoproteinemia, Type Ib

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
lipemia retinalis (in severe cases)

Abdomen- Pancreas:
pancreatitis

Skin Nails & Hair- Skin:
eruptive xanthomas

Abdomen- Liver:
hepatomegaly

Abdomen- Spleen:
splenomegaly

Laboratory- Abnormalities:
hypertriglyceridemia
decreased plasma apolipoprotein c-ii
fasting chylomicronemia
'cloudy' or 'pink' blood (lipemia)


Clinical features from OMIM:

207750

Human phenotypes related to Hyperlipoproteinemia, Type Ib:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 32 HP:0002155
2 hepatomegaly 32 HP:0002240
3 splenomegaly 32 HP:0001744
4 pancreatitis 32 HP:0001733
5 lipemia retinalis 32 HP:0000660
6 eruptive xanthomas 32 HP:0001013

Drugs & Therapeutics for Hyperlipoproteinemia, Type Ib

Search Clinical Trials , NIH Clinical Center for Hyperlipoproteinemia, Type Ib

Genetic Tests for Hyperlipoproteinemia, Type Ib

Genetic tests related to Hyperlipoproteinemia, Type Ib:

id Genetic test Affiliating Genes
1 Apolipoprotein C2 Deficiency 29
2 Apolipoprotein C-Ii Deficiency 24 APOC2

Anatomical Context for Hyperlipoproteinemia, Type Ib

Publications for Hyperlipoproteinemia, Type Ib

Variations for Hyperlipoproteinemia, Type Ib

UniProtKB/Swiss-Prot genetic disease variations for Hyperlipoproteinemia, Type Ib:

71
id Symbol AA change Variation ID SNP ID
1 APOC2 p.Trp48Arg VAR_000640 rs120074115

ClinVar genetic disease variations for Hyperlipoproteinemia, Type Ib:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 APOC2 NM_000483.4(APOC2): c.229A> C (p.Lys77Gln) single nucleotide variant Pathogenic rs5126 GRCh37 Chromosome 19, 45452429: 45452429
2 APOC2 NM_000483.4(APOC2): c.177C> A (p.Tyr59Ter) single nucleotide variant Pathogenic rs120074111 GRCh37 Chromosome 19, 45452079: 45452079
3 APOC2 APOC2, 1-BP INS insertion Pathogenic
4 APOC2 APOC2, 1-BP DEL deletion Pathogenic
5 APOC2 APOC2, IVS2, G-C, +1 single nucleotide variant Pathogenic
6 APOC2 APOC2, 1-BP DEL, 2943G deletion Pathogenic
7 APOC2 NM_000483.4(APOC2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs120074112 GRCh37 Chromosome 19, 45451736: 45451736
8 APOC2 NM_000483.4(APOC2): c.177C> G (p.Tyr59Ter) single nucleotide variant Pathogenic rs120074111 GRCh37 Chromosome 19, 45452079: 45452079
9 APOC2 NM_000483.4(APOC2): c.122A> C (p.Lys41Thr) single nucleotide variant Pathogenic rs120074114 GRCh37 Chromosome 19, 45452024: 45452024
10 APOC2 NM_000483.4(APOC2): c.178G> A (p.Glu60Lys) single nucleotide variant Pathogenic rs5122 GRCh37 Chromosome 19, 45452080: 45452080
11 APOC2 NM_000483.4(APOC2): c.142T> C (p.Trp48Arg) single nucleotide variant Pathogenic rs120074115 GRCh37 Chromosome 19, 45452044: 45452044
12 APOC2 NM_000483.4(APOC2): c.255C> A (p.Tyr85Ter) single nucleotide variant Pathogenic rs120074116 GRCh37 Chromosome 19, 45452455: 45452455

Expression for Hyperlipoproteinemia, Type Ib

Search GEO for disease gene expression data for Hyperlipoproteinemia, Type Ib.

Pathways for Hyperlipoproteinemia, Type Ib

GO Terms for Hyperlipoproteinemia, Type Ib

Sources for Hyperlipoproteinemia, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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