MCID: HYP485
MIFTS: 11

Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency

Categories: Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

MalaCards integrated aliases for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency:

Name: Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Inheritance: Semi-dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

MalaCards based summary : Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency An important gene associated with Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency is CYP7A1 (Cytochrome P450 Family 7 Subfamily A Member 1). Related phenotypes are hypertriglyceridemia and hepatitis

Related Diseases for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Symptoms & Phenotypes for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Human phenotypes related to Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002155
2 hepatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012115
3 increased ldl cholesterol concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0003141
4 hypercholesterolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003124
5 cholestasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001396
6 macrovesicular hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001403
7 acute hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006573
8 cholesterol gallstones 58 31 hallmark (90%) Very frequent (99-80%) HP:0011980
9 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
10 coronary artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0001677
11 accelerated atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0004943
12 abnormality of vitamin a metabolism 58 31 frequent (33%) Frequent (79-30%) HP:0008372
13 abnormality of vitamin e metabolism 58 31 frequent (33%) Frequent (79-30%) HP:0100514
14 aortic atherosclerotic lesion 31 frequent (33%) HP:0012397
15 hepatic steatosis 58 Very frequent (99-80%)
16 coronary atherosclerosis 58 Frequent (79-30%)
17 aortic atherosclerosis 58 Frequent (79-30%)

Drugs & Therapeutics for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Search Clinical Trials , NIH Clinical Center for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency

Genetic Tests for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Anatomical Context for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Publications for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Variations for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Expression for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Search GEO for disease gene expression data for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency.

Pathways for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

GO Terms for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

Sources for Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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