MCID: CHY007
MIFTS: 10

Chylomicronemia, Familial, Due to Circulating Inhibitor of Lipoprotein Lipase

Categories: Genetic 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 57
Hyperlipoproteinemia, Type Ic 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 118830
MedGen 42 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...

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 abdominal pain 32 HP:0002027
3 recurrent pancreatitis 32 HP:0100027
4 hyperlipoproteinemia 32 HP:0010980

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

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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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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