MCID: HYP485
MIFTS: 12

Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency

Categories: Metabolic diseases, Endocrine 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 59

Characteristics:

Orphanet epidemiological data:

59
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Inheritance: Semi-dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



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 cholestasis and macrovesicular hepatic steatosis

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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cholestasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001396
2 macrovesicular hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001403
3 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
4 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
5 hypercholesterolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003124
6 accelerated atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0004943
7 acute hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0006573
8 abnormality of vitamin a metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0008372
9 cholesterol gallstones 59 32 hallmark (90%) Very frequent (99-80%) HP:0011980
10 hepatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012115
11 aortic atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0012397
12 abnormality of vitamin e metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0100514
13 hepatic steatosis 59 Very frequent (99-80%)
14 coronary artery disease 59 Frequent (79-30%)
15 hyperbetalipoproteinemia 59 Very frequent (99-80%)
16 coronary atherosclerosis 59 Frequent (79-30%)
17 coronary artery atherosclerosis 32 frequent (33%) HP:0001677
18 increased ldl cholesterol concentration 32 hallmark (90%) HP:0003141

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 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
Content
Loading form....