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Diseases

Chylomicron Retention Disease

chylomicron retention disease

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Chylomicron Retention Disease
Standard Disease Name
chylomicron retention disease
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
C536418
OMIM ID
No data
UMLS ID
C0878578
HPO ID
No data

Description and Extensions

Description
SNOMEDCT_US_2016_09_01:Also known as shaky legs syndrome, this is a rare movement disorder with characteristics of fast, task-specific tremor, affecting the legs and trunk while standing. The prevalence is unknown. To date, around 390 cases have been reported in the literature. Women are predominantly affected (sex ratio: 2:1) with disease onset occurring in middle aged or elderly people. At present, the pathophysiology is unknown. The disorder is sporadic but exceptional familial cases have been reported.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
02
GBE1
1,4-alpha-glucan branching enzyme 1
1,4-alpha-glucan branching enzyme 1
03
IQGAP1
IQ motif containing GTPase activating protein 1
IQ motif containing GTPase activating protein 1
04
MTTP
microsomal triglyceride transfer protein
microsomal triglyceride transfer protein
05
PITPNA
phosphatidylinositol transfer protein alpha
phosphatidylinositol transfer protein alpha