MCID: CHY007
MIFTS: 11

Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

MalaCards integrated aliases for Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase:

Name: Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase 58
Hyperlipoproteinemia, Type Ic 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 118830
MedGen 43 C1861560

Summaries for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

MalaCards based summary : Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase, is also known as hyperlipoproteinemia, type ic. Related phenotypes are splenomegaly and abdominal pain

Description from OMIM: 118830

Related Diseases for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Diseases in the Adult-Onset Familial Chylomicronemia Syndrome family:

Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase

Symptoms & Phenotypes for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Human phenotypes related to Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase:

33
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 abdominal pain 33 HP:0002027
3 recurrent pancreatitis 33 HP:0100027
4 hyperlipoproteinemia 33 HP:0010980

Symptoms via clinical synopsis from OMIM:

58
G I:
splenomegaly
recurrent abdominal pain
recurrent pancreatitis attacks

Lab:
chylomicronemia
hyperlipoproteinemia type i
very low postheparin plasma lipolytic activity
high adipose tissue lipoprotein lipase
normal or elevated plasma apolipoprotein c-ii
more

Clinical features from OMIM:

118830

Drugs & Therapeutics for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Search Clinical Trials , NIH Clinical Center for Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase

Genetic Tests for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Anatomical Context for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Publications for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Variations for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Expression for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Search GEO for disease gene expression data for Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase.

Pathways for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

GO Terms for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

Sources for Chylomicronemia, Familial, Due to Circulating Inhibitor of...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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