HCHOLA3
MCID: HYP805
MIFTS: 32

Hypercholesterolemia, Autosomal Dominant, 3 (HCHOLA3)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypercholesterolemia, Autosomal Dominant, 3

MalaCards integrated aliases for Hypercholesterolemia, Autosomal Dominant, 3:

Name: Hypercholesterolemia, Autosomal Dominant, 3 57 75 29 6 73
Hypercholesterolemia, Familial, 3 57 13
Hypercholesterolemia 44 73
Hchola3 57 75
Hypercholesterolemia, Autosomal Dominant, Type 3 ) 40
Low Density Lipoprotein Cholesterol Level Qtl 1 57
Familial Hypercholesterolemia 3 75
Fh3 57

Characteristics:

HPO:

32
hypercholesterolemia, autosomal dominant, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 603776
MeSH 44 D006937
SNOMED-CT via HPO 69 263681008 13644009 166830008

Summaries for Hypercholesterolemia, Autosomal Dominant, 3

UniProtKB/Swiss-Prot : 75 Hypercholesterolemia, autosomal dominant, 3: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very- low-density lipoproteins.

MalaCards based summary : Hypercholesterolemia, Autosomal Dominant, 3, also known as hypercholesterolemia, familial, 3, is related to hypercholesterolemia, familial and hypercholesterolemia, autosomal recessive. An important gene associated with Hypercholesterolemia, Autosomal Dominant, 3 is PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9). Affiliated tissues include skin, lung and kidney, and related phenotype is hypercholesterolemia.

Description from OMIM: 603776

Related Diseases for Hypercholesterolemia, Autosomal Dominant, 3

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Autosomal Dominant, 3
Hypercholesterolemia, Autosomal Recessive

Diseases related to Hypercholesterolemia, Autosomal Dominant, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial 12.9
2 hypercholesterolemia, autosomal recessive 12.6
3 hypercholesterolemia, autosomal dominant, type b 12.4
4 homozygous familial hypercholesterolemia 12.2
5 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 12.1
6 hypercholesterolemia suppressor 12.0
7 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 12.0
8 hyperlipidemia, familial combined 11.7
9 sitosterolemia 11.3
10 hyperaldosteronism, familial, type iii 11.3
11 arcus corneae 11.3
12 cerebrotendinous xanthomatosis 11.3
13 hyperlipoproteinemia, type iii 11.2
14 schnyder corneal dystrophy 11.0
15 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.0
16 growth hormone insensitivity with immunodeficiency 11.0
17 glycogen storage disease ixa1 11.0
18 coronary artery disease, autosomal dominant, 1 11.0
19 congenital disorder of glycosylation, type iio 11.0
20 congenital disorder of glycosylation, type iip 11.0
21 spinocerebellar ataxia type 1 with axonal neuropathy 11.0
22 glycogen storage disease ixa 11.0
23 erythromelalgia 11.0
24 arteries, anomalies of 10.5
25 coronary artery anomaly 10.5
26 heart disease 10.4
27 diabetes mellitus 10.4
28 coronary heart disease 1 10.4
29 defective apolipoprotein b-100 10.3
30 myocardial infarction 10.3
31 xanthomatosis 10.2
32 ischemia 10.2
33 diabetes mellitus, noninsulin-dependent 10.2
34 supravalvular aortic stenosis 10.2
35 ischemic heart disease 10.2
36 hypothyroidism 10.1
37 nephrotic syndrome 10.0
38 atherosclerosis susceptibility 10.0
39 myxedema 10.0
40 arthritis 10.0
41 glucose intolerance 10.0
42 arteriosclerosis 10.0
43 lipid metabolism disorder 10.0
44 fatty liver disease 10.0
45 primary biliary cholangitis 10.0
46 alzheimer disease 10.0
47 biliary cirrhosis, primary, 1 10.0
48 hypertriglyceridemia, familial 10.0
49 fatty liver disease, nonalcoholic 1 10.0
50 hypertriglyceridemia, transient infantile 10.0

Graphical network of the top 20 diseases related to Hypercholesterolemia, Autosomal Dominant, 3:



Diseases related to Hypercholesterolemia, Autosomal Dominant, 3

Symptoms & Phenotypes for Hypercholesterolemia, Autosomal Dominant, 3

Clinical features from OMIM:

603776

Human phenotypes related to Hypercholesterolemia, Autosomal Dominant, 3:

32
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 32 obligate (100%) HP:0003124

Drugs & Therapeutics for Hypercholesterolemia, Autosomal Dominant, 3

Genetic Tests for Hypercholesterolemia, Autosomal Dominant, 3

Genetic tests related to Hypercholesterolemia, Autosomal Dominant, 3:

# Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Dominant, 3 29 PCSK9

Anatomical Context for Hypercholesterolemia, Autosomal Dominant, 3

MalaCards organs/tissues related to Hypercholesterolemia, Autosomal Dominant, 3:

41
Skin, Lung, Kidney, Liver, Heart, Prostate

Publications for Hypercholesterolemia, Autosomal Dominant, 3

Variations for Hypercholesterolemia, Autosomal Dominant, 3

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Autosomal Dominant, 3:

75
# Symbol AA change Variation ID SNP ID
1 PCSK9 p.Ser127Arg VAR_017199 rs28942111
2 PCSK9 p.Phe216Leu VAR_017200 rs28942112
3 PCSK9 p.Asp129Gly VAR_058524
4 PCSK9 p.Arg215His VAR_058526 rs794728683
5 PCSK9 p.Arg218Ser VAR_058527 rs970575319
6 PCSK9 p.Arg357His VAR_058530 rs370507566
7 PCSK9 p.Asp374His VAR_058531 rs137852912
8 PCSK9 p.Asp374Tyr VAR_058532 rs137852912
9 PCSK9 p.Arg496Trp VAR_058534 rs374603772

ClinVar genetic disease variations for Hypercholesterolemia, Autosomal Dominant, 3:

6 (show top 50) (show all 194)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCSK9 NM_174936.3(PCSK9): c.381T> A (p.Ser127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28942111 GRCh37 Chromosome 1, 55509689: 55509689
2 PCSK9 NM_174936.3(PCSK9): c.381T> A (p.Ser127Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28942111 GRCh38 Chromosome 1, 55044016: 55044016
3 PCSK9 NM_174936.3(PCSK9): c.646T> C (p.Phe216Leu) single nucleotide variant Pathogenic rs28942112 GRCh37 Chromosome 1, 55518073: 55518073
4 PCSK9 NM_174936.3(PCSK9): c.646T> C (p.Phe216Leu) single nucleotide variant Pathogenic rs28942112 GRCh38 Chromosome 1, 55052400: 55052400
5 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137852912 GRCh37 Chromosome 1, 55523127: 55523127
6 PCSK9 NM_174936.3(PCSK9): c.1120G> T (p.Asp374Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137852912 GRCh38 Chromosome 1, 55057454: 55057454
7 PCSK9 NM_174936.3(PCSK9): c.2037C> A (p.Cys679Ter) single nucleotide variant Benign rs28362286 GRCh37 Chromosome 1, 55529215: 55529215
8 PCSK9 NM_174936.3(PCSK9): c.2037C> A (p.Cys679Ter) single nucleotide variant Benign rs28362286 GRCh38 Chromosome 1, 55063542: 55063542
9 PCSK9 NM_174936.3(PCSK9): c.137G> T (p.Arg46Leu) single nucleotide variant Conflicting interpretations of pathogenicity, association rs11591147 GRCh37 Chromosome 1, 55505647: 55505647
10 PCSK9 NM_174936.3(PCSK9): c.137G> T (p.Arg46Leu) single nucleotide variant Conflicting interpretations of pathogenicity, association rs11591147 GRCh38 Chromosome 1, 55039974: 55039974
11 PCSK9 NM_174936.3(PCSK9): c.158C> T (p.Ala53Val) single nucleotide variant Benign/Likely benign rs11583680 GRCh37 Chromosome 1, 55505668: 55505668
12 PCSK9 NM_174936.3(PCSK9): c.158C> T (p.Ala53Val) single nucleotide variant Benign/Likely benign rs11583680 GRCh38 Chromosome 1, 55039995: 55039995
13 PCSK9 NM_174936.3(PCSK9): c.2009G> A (p.Gly670Glu) single nucleotide variant Benign/Likely benign rs505151 GRCh37 Chromosome 1, 55529187: 55529187
14 PCSK9 NM_174936.3(PCSK9): c.2009G> A (p.Gly670Glu) single nucleotide variant Benign/Likely benign rs505151 GRCh38 Chromosome 1, 55063514: 55063514
15 PCSK9 NM_174936.3(PCSK9): c.524-11G> A single nucleotide variant Benign/Likely benign rs11800231 GRCh37 Chromosome 1, 55517940: 55517940
16 PCSK9 NM_174936.3(PCSK9): c.524-11G> A single nucleotide variant Benign/Likely benign rs11800231 GRCh38 Chromosome 1, 55052267: 55052267
17 PCSK9 NM_174936.3(PCSK9): c.658-7C> T single nucleotide variant Benign/Likely benign rs2483205 GRCh37 Chromosome 1, 55518316: 55518316
18 PCSK9 NM_174936.3(PCSK9): c.658-7C> T single nucleotide variant Benign/Likely benign rs2483205 GRCh38 Chromosome 1, 55052643: 55052643
19 PCSK9 NM_174936.3(PCSK9): c.644G> A (p.Arg215His) single nucleotide variant Conflicting interpretations of pathogenicity rs794728683 GRCh37 Chromosome 1, 55518071: 55518071
20 PCSK9 NM_174936.3(PCSK9): c.644G> A (p.Arg215His) single nucleotide variant Conflicting interpretations of pathogenicity rs794728683 GRCh38 Chromosome 1, 55052398: 55052398
21 PCSK9 NM_174936.3(PCSK9): c.1380A> G (p.Val460=) single nucleotide variant Benign/Likely benign rs540796 GRCh37 Chromosome 1, 55524197: 55524197
22 PCSK9 NM_174936.3(PCSK9): c.1380A> G (p.Val460=) single nucleotide variant Benign/Likely benign rs540796 GRCh38 Chromosome 1, 55058524: 55058524
23 PCSK9 NM_174936.3(PCSK9): c.1405C> T (p.Arg469Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141502002 GRCh38 Chromosome 1, 55058549: 55058549
24 PCSK9 NM_174936.3(PCSK9): c.1405C> T (p.Arg469Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141502002 GRCh37 Chromosome 1, 55524222: 55524222
25 PCSK9 NM_174936.3(PCSK9): c.1420G> A (p.Val474Ile) single nucleotide variant Benign/Likely benign rs562556 GRCh37 Chromosome 1, 55524237: 55524237
26 PCSK9 NM_174936.3(PCSK9): c.1420G> A (p.Val474Ile) single nucleotide variant Benign/Likely benign rs562556 GRCh38 Chromosome 1, 55058564: 55058564
27 PCSK9 NM_174936.3(PCSK9): c.1486C> T (p.Arg496Trp) single nucleotide variant Uncertain significance rs374603772 GRCh38 Chromosome 1, 55058630: 55058630
28 PCSK9 NM_174936.3(PCSK9): c.1486C> T (p.Arg496Trp) single nucleotide variant Uncertain significance rs374603772 GRCh37 Chromosome 1, 55524303: 55524303
29 PCSK9 NM_174936.3(PCSK9): c.63_65dupGCT (p.Leu23_Gly24insLeu) duplication Benign/Likely benign rs35574083 GRCh37 Chromosome 1, 55505573: 55505575
30 PCSK9 NM_174936.3(PCSK9): c.63_65dupGCT (p.Leu23_Gly24insLeu) duplication Benign/Likely benign rs35574083 GRCh38 Chromosome 1, 55039900: 55039902
31 PCSK9 NM_174936.3(PCSK9): c.720C> T (p.Gly240=) single nucleotide variant Conflicting interpretations of pathogenicity rs41297883 GRCh38 Chromosome 1, 55052712: 55052712
32 PCSK9 NM_174936.3(PCSK9): c.720C> T (p.Gly240=) single nucleotide variant Conflicting interpretations of pathogenicity rs41297883 GRCh37 Chromosome 1, 55518385: 55518385
33 PCSK9 NM_174936.3(PCSK9): c.1173C> T (p.His391=) single nucleotide variant Likely benign rs149097297 GRCh37 Chromosome 1, 55523180: 55523180
34 PCSK9 NM_174936.3(PCSK9): c.1173C> T (p.His391=) single nucleotide variant Likely benign rs149097297 GRCh38 Chromosome 1, 55057507: 55057507
35 PCSK9 NM_174936.3(PCSK9): c.1658A> G (p.His553Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28362270 GRCh38 Chromosome 1, 55059640: 55059640
36 PCSK9 NM_174936.3(PCSK9): c.1658A> G (p.His553Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28362270 GRCh37 Chromosome 1, 55525313: 55525313
37 PCSK9 NM_174936.3(PCSK9): c.1484G> A (p.Arg495Gln) single nucleotide variant Uncertain significance rs370574590 GRCh37 Chromosome 1, 55524301: 55524301
38 PCSK9 NM_174936.3(PCSK9): c.1484G> A (p.Arg495Gln) single nucleotide variant Uncertain significance rs370574590 GRCh38 Chromosome 1, 55058628: 55058628
39 PCSK9 NM_174936.3(PCSK9): c.141C> T (p.Ser47=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385701 GRCh38 Chromosome 1, 55039978: 55039978
40 PCSK9 NM_174936.3(PCSK9): c.141C> T (p.Ser47=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385701 GRCh37 Chromosome 1, 55505651: 55505651
41 PCSK9 NM_174936.3(PCSK9): c.207+15A> G single nucleotide variant Benign/Likely benign rs2495482 GRCh38 Chromosome 1, 55040059: 55040059
42 PCSK9 NM_174936.3(PCSK9): c.207+15A> G single nucleotide variant Benign/Likely benign rs2495482 GRCh37 Chromosome 1, 55505732: 55505732
43 PCSK9 NM_174936.3(PCSK9): c.657+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs11800243 GRCh38 Chromosome 1, 55052420: 55052420
44 PCSK9 NM_174936.3(PCSK9): c.657+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs11800243 GRCh37 Chromosome 1, 55518093: 55518093
45 PCSK9 NM_174936.3(PCSK9): c.753C> T (p.Arg251=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385710 GRCh38 Chromosome 1, 55052745: 55052745
46 PCSK9 NM_174936.3(PCSK9): c.753C> T (p.Arg251=) single nucleotide variant Conflicting interpretations of pathogenicity rs28385710 GRCh37 Chromosome 1, 55518418: 55518418
47 PCSK9 NM_174936.3(PCSK9): c.799+3A> G single nucleotide variant Benign/Likely benign rs2495477 GRCh38 Chromosome 1, 55052794: 55052794
48 PCSK9 NM_174936.3(PCSK9): c.799+3A> G single nucleotide variant Benign/Likely benign rs2495477 GRCh37 Chromosome 1, 55518467: 55518467
49 PCSK9 NM_174936.3(PCSK9): c.1026A> G (p.Gln342=) single nucleotide variant Conflicting interpretations of pathogenicity rs509504 GRCh38 Chromosome 1, 55057360: 55057360
50 PCSK9 NM_174936.3(PCSK9): c.1026A> G (p.Gln342=) single nucleotide variant Conflicting interpretations of pathogenicity rs509504 GRCh37 Chromosome 1, 55523033: 55523033

Expression for Hypercholesterolemia, Autosomal Dominant, 3

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Pathways for Hypercholesterolemia, Autosomal Dominant, 3

GO Terms for Hypercholesterolemia, Autosomal Dominant, 3

Sources for Hypercholesterolemia, Autosomal Dominant, 3

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