MCID: CRD168
MIFTS: 17

Cardiomyopathy, Familial Hypertrophic, 19

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 19

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 19:

Name: Cardiomyopathy, Familial Hypertrophic, 19 57 13 73
Cmh19 57 12 75
Familial Hypertrophic Cardiomyopathy 19 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 19 40
Cardiomyopathy, Familial Hypertrophic 19 75
Cardiomyopathy Familial Hypertrophic 19 12
Cardiomyopathy, Hypertrophic, 19 57
Hypertrophic Cardiomyopathy 19 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial hypertrophic, 19:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613875
Disease Ontology 12 DOID:0110325
MedGen 42 C3151266
MeSH 44 D024741
SNOMED-CT via HPO 69 263681008
UMLS 73 C3151266

Summaries for Cardiomyopathy, Familial Hypertrophic, 19

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic 19: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 19, is also known as cmh19. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 19 is CALR3 (Calreticulin 3). Affiliated tissues include heart, and related phenotype is asymmetric septal hypertrophy.

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the calreticulin gene (CALR3) on chromosome 19p13.11.

Description from OMIM: 613875

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 19

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
asymmetric septal hypertrophy
left ventricular outflow obstruction


Clinical features from OMIM:

613875

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 19:

32
# Description HPO Frequency HPO Source Accession
1 asymmetric septal hypertrophy 32 HP:0001670

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 19

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 19

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 19

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 19:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 19 29 CALR3

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 19

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 19:

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 19

Variations for Cardiomyopathy, Familial Hypertrophic, 19

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 19:

75
# Symbol AA change Variation ID SNP ID
1 CALR3 p.Lys82Arg VAR_065476 rs142951029

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 19:

6
(show top 50) (show all 85)
# Gene Variation Type Significance SNP ID Assembly Location
1 CALR3 NM_145046.4(CALR3): c.850G> A (p.Asp284Asn) single nucleotide variant Benign/Likely benign rs10404156 GRCh38 Chromosome 19, 16482518: 16482518
2 CALR3 NM_145046.4(CALR3): c.850G> A (p.Asp284Asn) single nucleotide variant Benign/Likely benign rs10404156 GRCh37 Chromosome 19, 16593329: 16593329
3 CALR3 NM_145046.4(CALR3): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs12459238 GRCh38 Chromosome 19, 16482548: 16482548
4 CALR3 NM_145046.4(CALR3): c.820G> A (p.Val274Ile) single nucleotide variant Benign rs12459238 GRCh37 Chromosome 19, 16593359: 16593359
5 CALR3 NM_145046.4(CALR3): c.215G> A (p.Gly72Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs182376945 GRCh37 Chromosome 19, 16601360: 16601360
6 CALR3 NM_145046.4(CALR3): c.215G> A (p.Gly72Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs182376945 GRCh38 Chromosome 19, 16490549: 16490549
7 CALR3 NM_145046.4(CALR3): c.861G> A (p.Thr287=) single nucleotide variant Benign rs118131979 GRCh38 Chromosome 19, 16482507: 16482507
8 CALR3 NM_145046.4(CALR3): c.861G> A (p.Thr287=) single nucleotide variant Benign rs118131979 GRCh37 Chromosome 19, 16593318: 16593318
9 CALR3 NM_145046.4(CALR3): c.398-6T> C single nucleotide variant Benign/Likely benign rs376479901 GRCh38 Chromosome 19, 16485263: 16485263
10 CALR3 NM_145046.4(CALR3): c.398-6T> C single nucleotide variant Benign/Likely benign rs376479901 GRCh37 Chromosome 19, 16596074: 16596074
11 CALR3 NM_145046.4(CALR3): c.1012-9T> C single nucleotide variant Benign rs144370982 GRCh38 Chromosome 19, 16479283: 16479283
12 CALR3 NM_145046.4(CALR3): c.1012-9T> C single nucleotide variant Benign rs144370982 GRCh37 Chromosome 19, 16590094: 16590094
13 CALR3 NM_145046.4(CALR3): c.780G> T (p.Pro260=) single nucleotide variant Likely benign rs775009764 GRCh38 Chromosome 19, 16482684: 16482684
14 CALR3 NM_145046.4(CALR3): c.780G> T (p.Pro260=) single nucleotide variant Likely benign rs775009764 GRCh37 Chromosome 19, 16593495: 16593495
15 CALR3 NM_145046.4(CALR3): c.483C> A (p.Ile161=) single nucleotide variant Benign rs143158265 GRCh38 Chromosome 19, 16485172: 16485172
16 CALR3 NM_145046.4(CALR3): c.483C> A (p.Ile161=) single nucleotide variant Benign rs143158265 GRCh37 Chromosome 19, 16595983: 16595983
17 CALR3 NM_145046.4(CALR3): c.125A> G (p.Asn42Ser) single nucleotide variant Benign/Likely benign rs149634686 GRCh38 Chromosome 19, 16495819: 16495819
18 CALR3 NM_145046.4(CALR3): c.125A> G (p.Asn42Ser) single nucleotide variant Benign/Likely benign rs149634686 GRCh37 Chromosome 19, 16606630: 16606630
19 CALR3 NM_145046.4(CALR3): c.38T> C (p.Met13Thr) single nucleotide variant Uncertain significance rs878855223 GRCh37 Chromosome 19, 16606903: 16606903
20 CALR3 NM_145046.4(CALR3): c.38T> C (p.Met13Thr) single nucleotide variant Uncertain significance rs878855223 GRCh38 Chromosome 19, 16496092: 16496092
21 CALR3 NM_145046.4(CALR3): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance rs777429499 GRCh37 Chromosome 19, 16590028: 16590028
22 CALR3 NM_145046.4(CALR3): c.1069G> A (p.Glu357Lys) single nucleotide variant Uncertain significance rs777429499 GRCh38 Chromosome 19, 16479217: 16479217
23 CALR3 NM_145046.4(CALR3): c.403G> A (p.Asp135Asn) single nucleotide variant Uncertain significance rs143932873 GRCh37 Chromosome 19, 16596063: 16596063
24 CALR3 NM_145046.4(CALR3): c.403G> A (p.Asp135Asn) single nucleotide variant Uncertain significance rs143932873 GRCh38 Chromosome 19, 16485252: 16485252
25 CALR3 NM_145046.4(CALR3): c.181G> A (p.Glu61Lys) single nucleotide variant Uncertain significance rs1060502978 GRCh37 Chromosome 19, 16606574: 16606574
26 CALR3 NM_145046.4(CALR3): c.181G> A (p.Glu61Lys) single nucleotide variant Uncertain significance rs1060502978 GRCh38 Chromosome 19, 16495763: 16495763
27 CALR3 NM_145046.4(CALR3): c.787G> C (p.Asp263His) single nucleotide variant Uncertain significance rs200056222 GRCh37 Chromosome 19, 16593392: 16593392
28 CALR3 NM_145046.4(CALR3): c.787G> C (p.Asp263His) single nucleotide variant Uncertain significance rs200056222 GRCh38 Chromosome 19, 16482581: 16482581
29 CALR3 NM_145046.4(CALR3): c.60C> G (p.Thr20=) single nucleotide variant Benign/Likely benign rs370721650 GRCh37 Chromosome 19, 16606881: 16606881
30 CALR3 NM_145046.4(CALR3): c.60C> G (p.Thr20=) single nucleotide variant Benign/Likely benign rs370721650 GRCh38 Chromosome 19, 16496070: 16496070
31 CALR3 NM_145046.4(CALR3): c.1114G> A (p.Glu372Lys) single nucleotide variant Uncertain significance rs140440387 GRCh37 Chromosome 19, 16589983: 16589983
32 CALR3 NM_145046.4(CALR3): c.1114G> A (p.Glu372Lys) single nucleotide variant Uncertain significance rs140440387 GRCh38 Chromosome 19, 16479172: 16479172
33 CALR3 NM_145046.4(CALR3): c.1067G> T (p.Arg356Leu) single nucleotide variant Benign rs140290452 GRCh37 Chromosome 19, 16590030: 16590030
34 CALR3 NM_145046.4(CALR3): c.1067G> T (p.Arg356Leu) single nucleotide variant Benign rs140290452 GRCh38 Chromosome 19, 16479219: 16479219
35 CALR3 NM_145046.4(CALR3): c.848C> T (p.Thr283Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs75099211 GRCh37 Chromosome 19, 16593331: 16593331
36 CALR3 NM_145046.4(CALR3): c.848C> T (p.Thr283Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs75099211 GRCh38 Chromosome 19, 16482520: 16482520
37 CALR3 NM_145046.4(CALR3): c.511C> T (p.Leu171=) single nucleotide variant Likely benign rs752204583 GRCh37 Chromosome 19, 16594908: 16594908
38 CALR3 NM_145046.4(CALR3): c.511C> T (p.Leu171=) single nucleotide variant Likely benign rs752204583 GRCh38 Chromosome 19, 16484097: 16484097
39 CALR3 NM_145046.4(CALR3): c.546T> C (p.Tyr182=) single nucleotide variant Likely benign rs369476772 GRCh38 Chromosome 19, 16484062: 16484062
40 CALR3 NM_145046.4(CALR3): c.546T> C (p.Tyr182=) single nucleotide variant Likely benign rs369476772 GRCh37 Chromosome 19, 16594873: 16594873
41 CALR3 NM_145046.4(CALR3): c.1104T> A (p.Ile368=) single nucleotide variant Likely benign GRCh37 Chromosome 19, 16589993: 16589993
42 CALR3 NM_145046.4(CALR3): c.1104T> A (p.Ile368=) single nucleotide variant Likely benign GRCh38 Chromosome 19, 16479182: 16479182
43 CALR3 NM_145046.4(CALR3): c.832C> T (p.Arg278Cys) single nucleotide variant Uncertain significance rs543953490 GRCh38 Chromosome 19, 16482536: 16482536
44 CALR3 NM_145046.4(CALR3): c.832C> T (p.Arg278Cys) single nucleotide variant Uncertain significance rs543953490 GRCh37 Chromosome 19, 16593347: 16593347
45 CALR3 NM_145046.4(CALR3): c.691C> G (p.His231Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 16482773: 16482773
46 CALR3 NM_145046.4(CALR3): c.691C> G (p.His231Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 16593584: 16593584
47 CALR3 NM_145046.4(CALR3): c.96T> C (p.His32=) single nucleotide variant Benign rs144355944 GRCh37 Chromosome 19, 16606659: 16606659
48 CALR3 NM_145046.4(CALR3): c.96T> C (p.His32=) single nucleotide variant Benign rs144355944 GRCh38 Chromosome 19, 16495848: 16495848
49 CALR3 NC_000019.10: g.(?_16485143)_(16490590_?)dup duplication Uncertain significance GRCh38 Chromosome 19, 16485143: 16490590
50 CALR3 NC_000019.10: g.(?_16485143)_(16490590_?)dup duplication Uncertain significance GRCh37 Chromosome 19, 16595954: 16601401

Expression for Cardiomyopathy, Familial Hypertrophic, 19

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Pathways for Cardiomyopathy, Familial Hypertrophic, 19

GO Terms for Cardiomyopathy, Familial Hypertrophic, 19

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