MCID: CRD086
MIFTS: 29

Cardiomyopathy, Familial Hypertrophic, 1 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Cardiomyopathy, Familial Hypertrophic, 1 is related to caveolinopathies and limb-girdle muscular dystrophy, type 1a. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 1 is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Immune response CCR3 signaling in eosinophils and Cell adhesion Integrin mediated cell adhesion and migration. The compounds phenylephrine and isoproterenol have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Description from OMIM:48 192600

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
48OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 1 48


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Familial Hypertrophic Cardiomyopathy family:

Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 13 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 18
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic 6
Cardiomyopathy, Familial Hypertrophic, 15 Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 10
Cardiomyopathy, Familial Hypertrophic, 14 cardiomyopathy, familial hypertrophic, 1
Cardiomyopathy, Familial Hypertrophic, 11 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 19 Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Familial Hypertrophic 17 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Diseases related to Cardiomyopathy, Familial Hypertrophic, 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1caveolinopathies10.1CAV3
2limb-girdle muscular dystrophy, type 1a10.0TCAP, CAV3
3distal muscular dystrophy10.0MYH7, CAV3
4limb-girdle muscular dystrophy, type 2b10.0TCAP, CAV3
5calpainopathy10.0TCAP, CAV3
6limb-girdle muscular dystrophy10.0CAV3, TCAP
7long qt syndrome10.0MYH7, CAV3
8sudden cardiac death multi-gene panels10.0CAV3, MYH7
9neuromuscular disease10.0TCAP, CAV3
10duchenne muscular dystrophy10.0CAV3, TCAP
11hypertrophy of breast10.0CAV3, MYH7
12muscular dystrophy10.0CAV3, TCAP
13dilated cardiomyopathy10.0MYH7, TCAP
14noonan syndrome10.0CAV3, TCAP, MYH7
15myopathy10.0CAV3, TCAP, MYH7
16familial hypertrophic cardiomyopathy9.9CAV3, TCAP, MYLK2

Graphical network of diseases related to Cardiomyopathy, Familial Hypertrophic, 1:



Diseases related to cardiomyopathy, familial hypertrophic, 1

Symptoms for Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

192600

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 1

Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 1

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 1

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

About this section

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

About this section

Animal Models for Cardiomyopathy, Familial Hypertrophic, 1 or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CAV3, TCAP, MYLK2

Publications for Cardiomyopathy, Familial Hypertrophic, 1

About this section

Variations for Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

65 (show all 172)
id Symbol AA change Variation ID SNP ID
1CAV3p.Thr64SerVAR_029543
2MYH7p.Ala26ValVAR_004566rs186964570
3MYH7p.Val59IleVAR_004567
4MYH7p.Arg143GlnVAR_004568
5MYH7p.Arg249GlnVAR_004569rs3218713
6MYH7p.Gly256GluVAR_004570
7MYH7p.Ile263ThrVAR_004571
8MYH7p.Met349ThrVAR_004572
9MYH7p.Arg403LeuVAR_004573
10MYH7p.Arg403GlnVAR_004574
11MYH7p.Arg403TrpVAR_004575rs3218714
12MYH7p.Arg453CysVAR_004576
13MYH7p.Phe513CysVAR_004577
14MYH7p.Gly584ArgVAR_004578
15MYH7p.Asp587ValVAR_004579
16MYH7p.Asn602SerVAR_004580
17MYH7p.Val606MetVAR_004581
18MYH7p.Lys615AsnVAR_004582
19MYH7p.Gly716ArgVAR_004583
20MYH7p.Arg719TrpVAR_004584
21MYH7p.Arg723CysVAR_004585
22MYH7p.Pro731LeuVAR_004586
23MYH7p.Ile736MetVAR_004587
24MYH7p.Gly741ArgVAR_004588
25MYH7p.Gly741TrpVAR_004589
26MYH7p.Asp778GlyVAR_004590
27MYH7p.Ala797ThrVAR_004591rs3218716
28MYH7p.Arg870HisVAR_004592rs36211715
29MYH7p.Leu908ValVAR_004593
30MYH7p.Glu924LysVAR_004594
31MYH7p.Glu930LysVAR_004595
32MYH7p.Glu935LysVAR_004597
33MYH7p.Glu949LysVAR_004598
34MYH7p.Glu743AspVAR_014199
35MYH7p.Arg719GlnVAR_017749
36MYH7p.Ala728ValVAR_017750
37MYH7p.Val39MetVAR_019845
38MYH7p.Thr188AsnVAR_019846
39MYH7p.Arg204HisVAR_019847
40MYH7p.Asn232SerVAR_019848
41MYH7p.Ala355ThrVAR_019849
42MYH7p.Ala428ValVAR_019850
43MYH7p.Ile443ThrVAR_019851
44MYH7p.Asn479SerVAR_019852
45MYH7p.Glu483LysVAR_019853
46MYH7p.Met659IleVAR_019854
47MYH7p.Arg663HisVAR_019855
48MYH7p.Arg663SerVAR_019856
49MYH7p.Arg671CysVAR_019857
50MYH7p.Gly733GluVAR_019858
51MYH7p.Gly768ArgVAR_019859
52MYH7p.Asp778GluVAR_019860
53MYH7p.Arg787HisVAR_019861
54MYH7p.Met852ThrVAR_019862
55MYH7p.Arg869GlyVAR_019863
56MYH7p.Leu1135ArgVAR_019865
57MYH7p.Glu1218GlnVAR_019866
58MYH7p.Thr1377MetVAR_019867
59MYH7p.Ala1379ThrVAR_019868
60MYH7p.Arg1382TrpVAR_019869
61MYH7p.Ala1777ThrVAR_019871
62MYH7p.Thr124IleVAR_020797
63MYH7p.Tyr162CysVAR_020798
64MYH7p.Asn187LysVAR_020799
65MYH7p.Arg190ThrVAR_020800
66MYH7p.Gln222LysVAR_020801
67MYH7p.Phe244LeuVAR_020802
68MYH7p.Val320MetVAR_020803
69MYH7p.Leu390ValVAR_020804
70MYH7p.Val406MetVAR_020805
71MYH7p.Glu499LysVAR_020806rs3218715
72MYH7p.Gln595ArgVAR_020807
73MYH7p.Leu601ValVAR_020808
74MYH7p.Arg694CysVAR_020809
75MYH7p.Asn696SerVAR_020810
76MYH7p.Arg712LeuVAR_020811
77MYH7p.Arg723GlyVAR_020812
78MYH7p.Ser782AsnVAR_020813
79MYH7p.Glu846GlnVAR_020814
80MYH7p.Arg869CysVAR_020815
81MYH7p.Arg870CysVAR_020816rs36211715
82MYH7p.Met877LysVAR_020817
83MYH7p.Glu1555LysVAR_020820
84MYH7p.Ser1776GlyVAR_020821
85MYH7p.Arg143TrpVAR_029431
86MYH7p.Val411IleVAR_029432
87MYH7p.Ala430GluVAR_029433
88MYH7p.Leu517MetVAR_029435
89MYH7p.Gly584SerVAR_029436
90MYH7p.Arg694HisVAR_029437
91MYH7p.Gln734GluVAR_029438
92MYH7p.Ile736ThrVAR_029439
93MYH7p.Leu796PheVAR_029440
94MYH7p.Val824IleVAR_029441
95MYH7p.Cys905PheVAR_029442
96MYH7p.Glu924GlnVAR_029443
97MYH7p.Asp928AsnVAR_029444
98MYH7p.Met515ValVAR_039562
99MYH7p.Arg858CysVAR_039563
100MYH7p.Tyr115HisVAR_042762
101MYH7p.Arg143GlyVAR_042763
102MYH7p.Lys146AsnVAR_042764
103MYH7p.Ser148IleVAR_042765
104MYH7p.Val186LeuVAR_042766
105MYH7p.Ala196ThrVAR_042767
106MYH7p.Lys207GlnVAR_042769
107MYH7p.Pro211LeuVAR_042770
108MYH7p.Leu227ValVAR_042771
109MYH7p.Ile263MetVAR_042772
110MYH7p.Phe312CysVAR_042773
111MYH7p.Glu328GlyVAR_042774
112MYH7p.Lys351GluVAR_042775
113MYH7p.Lys383AsnVAR_042776
114MYH7p.Ala385ValVAR_042777
115MYH7p.Val404LeuVAR_042778
116MYH7p.Val404MetVAR_042779
117MYH7p.Gly407ValVAR_042780
118MYH7p.Gly425ArgVAR_042782
119MYH7p.Met435ThrVAR_042783
120MYH7p.Val440MetVAR_042784
121MYH7p.Lys450GluVAR_042786
122MYH7p.Lys450ThrVAR_042787
123MYH7p.Arg453HisVAR_042788
124MYH7p.Glu500AlaVAR_042789
125MYH7p.Tyr501CysVAR_042790
126MYH7p.Ile511PheVAR_042791
127MYH7p.Ile511ThrVAR_042792
128MYH7p.Met515ArgVAR_042793
129MYH7p.Gly571ArgVAR_042795
130MYH7p.His576ArgVAR_042796
131MYH7p.Lys615GlnVAR_042797
132MYH7p.Arg663CysVAR_042798
133MYH7p.Val698AlaVAR_042799
134MYH7p.Gln734ProVAR_042800
135MYH7p.Ala742GluVAR_042801
136MYH7p.Val763GlyVAR_042802
137MYH7p.Glu774ValVAR_042803
138MYH7p.Asp778ValVAR_042804
139MYH7p.Met822LeuVAR_042805
140MYH7p.Met822ThrVAR_042806
141MYH7p.Gly823GluVAR_042807
142MYH7p.Arg858HisVAR_042809rs2856897
143MYH7p.Arg869HisVAR_042810rs202141173
144MYH7p.Gln882GluVAR_042811
145MYH7p.Glu894GlyVAR_042812
146MYH7p.Ala901GlyVAR_042813
147MYH7p.Asp906GlyVAR_042814
148MYH7p.Glu921LysVAR_042815
149MYH7p.Glu927LysVAR_042816
150MYH7p.Glu931LysVAR_042817
151MYH7p.Asp953HisVAR_042818
152MYH7p.Gly1057AspVAR_042820
153MYH7p.Gly1057SerVAR_042821
154MYH7p.Asn1327LysVAR_042823
155MYH7p.Glu1356LysVAR_042824
156MYH7p.Arg1420TrpVAR_042825
157MYH7p.Ala1454ThrVAR_042827
158MYH7p.Lys1459AsnVAR_042828
159MYH7p.Thr1513SerVAR_042830
160MYH7p.Arg1712TrpVAR_042834
161MYH7p.Glu1753LysVAR_042836
162MYH7p.Glu1768LysVAR_042837
163MYH7p.Thr1854MetVAR_042838
164MYH7p.Glu1883LysVAR_042839
165MYH7p.Thr1929MetVAR_042842
166MYH7p.Val763MetVAR_045926
167MYH7p.Arg787CysVAR_045927
168MYH7p.Leu1414MetVAR_045928
169MYLK2p.Ala87ValVAR_014197rs121908107
170MYLK2p.Ala95GluVAR_014198rs121908108
171TCAPp.Thr137IleVAR_029447
172TCAPp.Arg153HisVAR_029448

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

1 (show all 153)
id Gene Name Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs121964856GRCh37Chr 1, 201334425: 201334425
3TNNI3NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
5TPM1NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn)single nucleotide variantPathogenicrs104894503GRCh37Chr 15, 63353098: 63353098
6MYL2NM_000432.3(MYL2): c.173G> A (p.Arg58Gln)single nucleotide variantPathogenicrs104894369GRCh37Chr 12, 111352091: 111352091
7MYH7NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln)single nucleotide variantPathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
8MYH7NM_000257.3(MYH7): c.746G> A (p.Arg249Gln)single nucleotide variantPathogenicrs3218713GRCh37Chr 14, 23900677: 23900677
9MYH7NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
10MYH7NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121913626GRCh37Chr 14, 23896932: 23896932
11MYH7NM_000257.3(MYH7): c.1816G> A (p.Val606Met)single nucleotide variantPathogenicrs121913627GRCh37Chr 14, 23896866: 23896866
12MYH7NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys)single nucleotide variantPathogenicrs121913628GRCh37Chr 14, 23893268: 23893268
13MYH7NM_000257.3(MYH7): c.2845G> A (p.Glu949Lys)single nucleotide variantPathogenicrs121913629GRCh37Chr 14, 23893193: 23893193
14MYH7NM_000257.3(MYH7): c.1046T> C (p.Met349Thr)single nucleotide variantBenign, Pathogenicrs121913640GRCh37Chr 14, 23899076: 23899076
15MYH7NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys)single nucleotide variantPathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
16MYH7nsv513807deletionPathogenic
17MYH7NM_000257.3(MYH7): c.2722C> G (p.Leu908Val)single nucleotide variantPathogenicrs121913631GRCh37Chr 14, 23893316: 23893316
18MYH7NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg)single nucleotide variantPathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
19MYH7NM_000257.3(MYH7): c.767G> A (p.Gly256Glu)single nucleotide variantPathogenicrs121913633GRCh37Chr 14, 23900656: 23900656
20MYH7NM_000257.3(MYH7): c.2333A> G (p.Asp778Gly)single nucleotide variantPathogenicrs121913634GRCh37Chr 14, 23894581: 23894581
21MYH7NM_000257.3(MYH7): c.1208G> T (p.Arg403Leu)single nucleotide variantPathogenicrs121913624GRCh37Chr 14, 23898487: 23898487
22MYH7NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp)single nucleotide variantPathogenicrs3218714GRCh37Chr 14, 23898488: 23898488
23MYH7NM_000257.3(MYH7): c.1538T> G (p.Phe513Cys)single nucleotide variantPathogenicrs121913636GRCh37Chr 14, 23897749: 23897749
24MYH7NM_000257.3(MYH7): c.2155C> T (p.Arg719Trp)single nucleotide variantPathogenicrs121913637GRCh37Chr 14, 23895180: 23895180
25MYH7NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg)single nucleotide variantPathogenicrs121913638GRCh37Chr 14, 23895189: 23895189
26MYH7NM_000257.3(MYH7): c.2803G> A (p.Glu935Lys)single nucleotide variantPathogenicrs121913639GRCh37Chr 14, 23893235: 23893235
27MYH7NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln)single nucleotide variantPathogenicrs121913641GRCh37Chr 14, 23895179: 23895179
28MYH7NM_000257.3(MYH7): c.2183C> T (p.Ala728Val)single nucleotide variantPathogenic, Uncertain significancers121913644GRCh37Chr 14, 23895007: 23895007
29MYH7NM_000257.3(MYH7): c.5134C> T (p.Arg1712Trp)single nucleotide variantPathogenicrs121913650GRCh37Chr 14, 23884861: 23884861
30MYH7NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys)single nucleotide variantPathogenicrs121913651GRCh37Chr 14, 23897840: 23897840
31MYH7NM_000257.3(MYH7): c.2609G> A (p.Arg870His)single nucleotide variantPathogenicrs36211715GRCh37Chr 14, 23894048: 23894048
32MYH7NM_000257.3(MYH7): c.5647G> A (p.Glu1883Lys)single nucleotide variantPathogenicrs121913652GRCh37Chr 14, 23883224: 23883224
33MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385
34MYH7NM_000257.3(MYH7): c.1491G> T (p.Glu497Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606911GRCh37Chr 14, 23897796: 23897796
35MYH7NM_000257.3(MYH7): c.2717A> G (p.Asp906Gly)single nucleotide variantPathogenicrs267606908GRCh37Chr 14, 23893321: 23893321
36MYH7NM_000257.3(MYH7): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs267606910GRCh37Chr 14, 23900798: 23900798
37MYH7NM_000257.3(MYH7): c.1357C> A (p.Arg453Ser)single nucleotide variantPathogenicrs121913625GRCh37Chr 14, 23898214: 23898214
38NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantPathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
39TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)single nucleotide variantLikely pathogenic, Pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
40MYBPC3NM_000256.3(MYBPC3): c.3408C> A (p.Tyr1136Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922383GRCh37Chr 11, 47354447: 47354447
41MYBPC3NM_000256.3(MYBPC3): c.2827C> T (p.Arg943Ter)single nucleotide variantPathogenicrs387907267GRCh37Chr 11, 47356671: 47356671
42MYH7NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionLikely pathogenic, Pathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
43MYBPC3NM_000256.3(MYBPC3): c.1156G> T (p.Glu386Ter)single nucleotide variantPathogenicrs397515888GRCh37Chr 11, 47365110: 47365110
44MYBPC3NM_000256.3(MYBPC3): c.1168delC (p.His390Metfs)deletionPathogenicrs397515889GRCh37Chr 11, 47365098: 47365098
45MYBPC3NM_000256.3(MYBPC3): c.1224-2A> Gsingle nucleotide variantPathogenicrs397515891GRCh37Chr 11, 47364815: 47364815
46MYBPC3NM_000256.3(MYBPC3): c.1235_1236delTT (p.Phe412Terfs)deletionPathogenicrs397515894GRCh37Chr 11, 47364687: 47364688
47MYBPC3NM_000256.3(MYBPC3): c.1273C> T (p.Gln425Ter)single nucleotide variantPathogenicrs397515895GRCh37Chr 11, 47364650: 47364650
48MYBPC3NM_000256.3(MYBPC3): c.1310delT (p.Val437Glyfs)deletionPathogenicrs397515896GRCh37Chr 11, 47364613: 47364613
49MYBPC3NM_000256.3(MYBPC3): c.1351+2T> Csingle nucleotide variantPathogenicrs397515897GRCh37Chr 11, 47364570: 47364570
50MYBPC3NM_000256.3(MYBPC3): c.1458-1G> Asingle nucleotide variantPathogenicrs397515903GRCh37Chr 11, 47364296: 47364296
51MYBPC3NM_000256.3(MYBPC3): c.1504C> T (p.Arg502Trp)single nucleotide variantPathogenicrs375882485GRCh37Chr 11, 47364249: 47364249
52MYBPC3NM_000256.3(MYBPC3): c.1505G> A (p.Arg502Gln)single nucleotide variantPathogenicrs397515907GRCh37Chr 11, 47364248: 47364248
53MYBPC3NM_000256.3(MYBPC3): c.1575T> G (p.Tyr525Ter)single nucleotide variantPathogenicrs397515910GRCh37Chr 11, 47364178: 47364178
54MYBPC3NM_000256.3(MYBPC3): c.1693A> T (p.Lys565Ter)single nucleotide variantPathogenicrs397515920GRCh37Chr 11, 47363639: 47363639
55MYBPC3NM_000256.3(MYBPC3): c.177_187delAGAGGGCACAC (p.Glu60Alafs)deletionPathogenicrs397515925GRCh37Chr 11, 47372895: 47372905
56MYBPC3NM_000256.3(MYBPC3): c.1800delA (p.Lys600Asnfs)deletionPathogenicrs397515926GRCh37Chr 11, 47362786: 47362786
57MYBPC3NM_000256.3(MYBPC3): c.1863delC (p.Phe621Leufs)deletionPathogenicrs397515931GRCh37Chr 11, 47362723: 47362723
58MYBPC3NM_000256.3(MYBPC3): c.1892delT (p.Phe631Serfs)deletionPathogenicrs397515933GRCh37Chr 11, 47362694: 47362694
59MYBPC3NM_000256.3(MYBPC3): c.1895delT (p.Met632Argfs)deletionPathogenicrs397515934GRCh37Chr 11, 47362691: 47362691
60MYBPC3NM_000256.3(MYBPC3): c.1897+1G> Asingle nucleotide variantPathogenicrs397515935GRCh37Chr 11, 47362688: 47362688
61MYBPC3NM_000256.3(MYBPC3): c.1928-2A> Gsingle nucleotide variantPathogenicrs397515937GRCh37Chr 11, 47361343: 47361343
62MYBPC3NM_000256.3(MYBPC3): c.2048G> A (p.Trp683Ter)single nucleotide variantPathogenicrs397515942GRCh37Chr 11, 47361221: 47361221
63MYBPC3NM_000256.3(MYBPC3): c.2013_2016delCCCTinsGG (p.Pro672Aspfs)indelPathogenicrs397515943GRCh37Chr 11, 47361253: 47361256
64MYBPC3NM_000256.3(MYBPC3): c.2040dupT (p.Val681Cysfs)duplicationPathogenicrs397515944GRCh37Chr 11, 47361228: 47361229
65MYBPC3NM_000256.3(MYBPC3): c.2096delC (p.Pro699Glnfs)deletionPathogenicrs397515947GRCh37Chr 11, 47360927: 47360927
66MYBPC3NM_000256.3(MYBPC3): c.2113dupA (p.Thr705Asnfs)duplicationPathogenicrs397515948GRCh37Chr 11, 47360909: 47360910
67MYBPC3NM_000256.3(MYBPC3): c.2163delC (p.Glu722Argfs)deletionPathogenicrs397515952GRCh37Chr 11, 47360216: 47360216
68MYBPC3NM_000256.3(MYBPC3): c.2182G> T (p.Glu728Ter)single nucleotide variantPathogenicrs397515954GRCh37Chr 11, 47360197: 47360197
69MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Asingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
70MYBPC3NM_000256.3(MYBPC3): c.2308+1G> Tsingle nucleotide variantPathogenicrs112738974GRCh37Chr 11, 47360070: 47360070
71MYBPC3NM_000256.3(MYBPC3): c.2309-2A> Gsingle nucleotide variantPathogenicrs111729952GRCh37Chr 11, 47359347: 47359347
72MYBPC3NM_000256.3(MYBPC3): c.2311dupG (p.Val771Glyfs)duplicationPathogenicrs397515960GRCh37Chr 11, 47359342: 47359343
73MYBPC3NM_000256.3(MYBPC3): c.2373dupG (p.Trp792Valfs)duplicationPathogenicrs397515963GRCh37Chr 11, 47359280: 47359281
74MYBPC3NM_000256.3(MYBPC3): c.2454G> A (p.Trp818Ter)single nucleotide variantPathogenicrs397515965GRCh37Chr 11, 47359090: 47359090
75MYBPC3NM_000256.3(MYBPC3): c.2490dupT (p.His831Serfs)duplicationPathogenicrs397515966GRCh37Chr 11, 47359053: 47359054
76MYBPC3NM_000256.3(MYBPC3): c.2524dupT (p.Tyr842Leufs)duplicationPathogenicrs397515970GRCh37Chr 11, 47359019: 47359020
77MYBPC3NM_000256.3(MYBPC3): c.2534_2538delGCGTC (p.Arg845Leufs)deletionPathogenicrs397515973GRCh37Chr 11, 47359006: 47359010
78MYBPC3NM_000256.3(MYBPC3): c.2541C> G (p.Tyr847Ter)single nucleotide variantPathogenicrs397515974GRCh37Chr 11, 47359003: 47359003
79MYBPC3NM_000256.3(MYBPC3): c.2556_2557delCGinsTCT (p.Gly853Leufs)indelPathogenicrs397515975GRCh37Chr 11, 47358987: 47358988
80MYBPC3NM_000256.3(MYBPC3): c.2558delG (p.Gly853Alafs)deletionPathogenicrs397515977GRCh37Chr 11, 47358986: 47358986
81MYBPC3NM_000256.3(MYBPC3): c.26-2A> Gsingle nucleotide variantPathogenicrs376395543GRCh37Chr 11, 47373058: 47373058
82MYBPC3NM_000256.3(MYBPC3): c.2610dupC (p.Ser871Glnfs)duplicationPathogenicrs397515979GRCh37Chr 11, 47357554: 47357555
83MYBPC3NM_000256.3(MYBPC3): c.2670G> A (p.Trp890Ter)single nucleotide variantPathogenicrs397515982GRCh37Chr 11, 47357495: 47357495
84MYBPC3NM_000256.3(MYBPC3): c.2833_2834delCG (p.Arg945Glyfs)deletionPathogenicrs397515987GRCh37Chr 11, 47356664: 47356665
85MYBPC3NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs)deletionPathogenicrs397515990GRCh37Chr 11, 47356633: 47356634
86MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Asingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
87MYBPC3NM_000256.3(MYBPC3): c.2905+1G> Csingle nucleotide variantPathogenicrs397515991GRCh37Chr 11, 47356592: 47356592
88MYBPC3NM_000256.3(MYBPC3): c.2905C> T (p.Gln969Ter)single nucleotide variantPathogenicrs397515992GRCh37Chr 11, 47356593: 47356593
89MYBPC3NM_000256.3(MYBPC3): c.2943_2947delGACCA (p.Gln981Hisfs)deletionPathogenicrs397515995GRCh37Chr 11, 47355520: 47355524
90MYBPC3NM_000256.3(MYBPC3): c.3040delC (p.Leu1014Trpfs)deletionPathogenicrs397515997GRCh37Chr 11, 47355258: 47355258
91MYBPC3NM_000256.3(MYBPC3): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs397516001GRCh37Chr 11, 47355229: 47355230
92MYBPC3NM_000256.3(MYBPC3): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs397516005GRCh37Chr 11, 47355117: 47355117
93MYBPC3NM_000256.3(MYBPC3): c.3190+2T> Gsingle nucleotide variantPathogenicrs113358486GRCh37Chr 11, 47355106: 47355106
94MYBPC3NM_000256.3(MYBPC3): c.3233G> A (p.Trp1078Ter)single nucleotide variantPathogenicrs397516006GRCh37Chr 11, 47354842: 47354842
95MYBPC3NM_000256.3(MYBPC3): c.3192dupC (p.Lys1065Glnfs)duplicationPathogenicrs397516007GRCh37Chr 11, 47354882: 47354883
96MYBPC3NM_000256.3(MYBPC3): c.3226_3227insT (p.Asp1076Valfs)insertionPathogenicrs397516008GRCh37Chr 11, 47354848: 47354849
97MYBPC3NM_000256.3(MYBPC3): c.3253G> T (p.Glu1085Ter)single nucleotide variantPathogenicrs397516010GRCh37Chr 11, 47354822: 47354822
98MYBPC3NM_000256.3(MYBPC3): c.3293G> A (p.Trp1098Ter)single nucleotide variantPathogenicrs397516013GRCh37Chr 11, 47354782: 47354782
99MYBPC3NM_000256.3(MYBPC3): c.3297dupG (p.Tyr1100Valfs)duplicationPathogenicrs397516014GRCh37Chr 11, 47354777: 47354778
100MYBPC3NM_000256.3(MYBPC3): c.3330+5G> Csingle nucleotide variantPathogenicrs373746463GRCh37Chr 11, 47354740: 47354740
101MYBPC3NM_000256.3(MYBPC3): c.3476_3479dupTTAT (p.Pro1161Tyrfs)duplicationPathogenicrs397516019GRCh37Chr 11, 47354376: 47354379
102MYBPC3NM_000256.3(MYBPC3): c.3490+1G> Asingle nucleotide variantPathogenicrs397516020GRCh37Chr 11, 47354364: 47354364
103MYBPC3NM_000256.3(MYBPC3): c.3491-2A> Tsingle nucleotide variantPathogenicrs397516022GRCh37Chr 11, 47354255: 47354255
104MYBPC3NM_000256.3(MYBPC3): c.350delC (p.Pro117Leufs)deletionPathogenicrs397516023GRCh37Chr 11, 47372109: 47372109
105MYBPC3NM_000256.3(MYBPC3): c.3624dupC (p.Lys1209Glnfs)duplicationPathogenicrs397516029GRCh37Chr 11, 47354119: 47354120
106MYBPC3NM_000256.3(MYBPC3): c.3624delC (p.Lys1209Serfs)deletionPathogenicrs397516030GRCh37Chr 11, 47354120: 47354120
107MYBPC3NM_000256.3(MYBPC3): c.3627+1G> Asingle nucleotide variantPathogenicrs397516031GRCh37Chr 11, 47354116: 47354116
108MYBPC3NM_000256.3(MYBPC3): c.362delC (p.Pro121Argfs)deletionPathogenicrs397516032GRCh37Chr 11, 47372097: 47372097
109MYBPC3NM_000256.3(MYBPC3): c.3694A> T (p.Lys1232Ter)single nucleotide variantPathogenicrs397516035GRCh37Chr 11, 47353743: 47353743
110MYBPC3NM_000256.3(MYBPC3): c.3697C> T (p.Gln1233Ter)single nucleotide variantPathogenicrs397516037GRCh37Chr 11, 47353740: 47353740
111MYBPC3NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter)single nucleotide variantPathogenicrs397516042GRCh37Chr 11, 47353626: 47353626
112MYBPC3NM_000256.3(MYBPC3): c.431_432delGT (p.Gly144Alafs)deletionPathogenicrs397516047GRCh37Chr 11, 47371638: 47371639
113MYBPC3NM_000256.3(MYBPC3): c.436dupA (p.Thr146Asnfs)duplicationPathogenicrs397516049GRCh37Chr 11, 47371633: 47371634
114MYBPC3NM_000256.3(MYBPC3): c.459delC (p.Ile154Leufs)deletionPathogenicrs397516052GRCh37Chr 11, 47371611: 47371611
115MYBPC3NM_000256.3(MYBPC3): c.506-1G> Tsingle nucleotide variantPathogenicrs397516056GRCh37Chr 11, 47371474: 47371474
116MYBPC3NM_000256.3(MYBPC3): c.506-2A> Csingle nucleotide variantPathogenicrs397516057GRCh37Chr 11, 47371475: 47371475
117MYBPC3NM_000256.3(MYBPC3): c.540_559del20 (p.Ala181Cysfs)deletionPathogenicrs397516058GRCh37Chr 11, 47371420: 47371439
118MYBPC3NM_000256.3(MYBPC3): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs397516061GRCh37Chr 11, 47371366: 47371366
119MYBPC3NM_000256.3(MYBPC3): c.655-1G> Asingle nucleotide variantPathogenicrs397516067GRCh37Chr 11, 47370093: 47370093
120MYBPC3NM_000256.3(MYBPC3): c.772+1G> Asingle nucleotide variantPathogenicrs397516072GRCh37Chr 11, 47369974: 47369974
121MYBPC3NM_000256.3(MYBPC3): c.821+1G> Asingle nucleotide variantPathogenicrs397516073GRCh37Chr 11, 47369407: 47369407
122MYBPC3NM_000256.3(MYBPC3): c.772G> A (p.Glu258Lys)single nucleotide variantPathogenicrs397516074GRCh37Chr 11, 47369975: 47369975
123MYBPC3NM_000256.3(MYBPC3): c.821+2T> Csingle nucleotide variantPathogenicrs397516076GRCh37Chr 11, 47369406: 47369406
124MYBPC3NM_000256.3(MYBPC3): c.821+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397516077GRCh37Chr 11, 47369403: 47369403
125MYBPC3NM_000256.3(MYBPC3): c.913_914delTT (p.Phe305Profs)deletionPathogenicrs397516080GRCh37Chr 11, 47368190: 47368191
126MYBPC3NM_000256.3(MYBPC3): c.927-2A> Gsingle nucleotide variantPathogenicrs397516082GRCh37Chr 11, 47367923: 47367923
127MYBPC3NM_000256.3(MYBPC3): c.927-9G> Asingle nucleotide variantPathogenicrs397516083GRCh37Chr 11, 47367930: 47367930
128MYBPC3NM_000256.3(MYBPC3): c.984_1054del71 (p.Pro329Glnfs)deletionPathogenicGRCh37Chr 11, 47367794: 47367864
129MYH7NM_000257.3(MYH7): c.1988G> A (p.Arg663His)single nucleotide variantPathogenicrs371898076GRCh37Chr 14, 23896042: 23896042
130MYH7NM_000257.3(MYH7): c.2167C> G (p.Arg723Gly)single nucleotide variantPathogenicrs121913630GRCh37Chr 14, 23895023: 23895023
131MYH7NM_000257.3(MYH7): c.2221G> A (p.Gly741Arg)single nucleotide variantPathogenicrs121913632GRCh37Chr 14, 23894969: 23894969
132MYH7NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr)single nucleotide variantPathogenicrs3218716GRCh37Chr 14, 23894525: 23894525
133MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)single nucleotide variantLikely pathogenic, Pathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
134MYH7NM_000257.3(MYH7): c.2744T> C (p.Leu915Pro)single nucleotide variantPathogenicrs397516166GRCh37Chr 14, 23893294: 23893294
135MYH7NM_000257.3(MYH7): c.2788G> A (p.Glu930Lys)single nucleotide variantPathogenicrs397516171GRCh37Chr 14, 23893250: 23893250
136MYH7NM_000257.3(MYH7): c.2791_2793delGAG (p.Glu931del)deletionPathogenicrs397516172GRCh37Chr 14, 23893245: 23893247
137MYH7NM_000257.3(MYH7): c.4135G> A (p.Ala1379Thr)single nucleotide variantPathogenicrs397516202GRCh37Chr 14, 23887453: 23887453
138MYH7NM_000257.3(MYH7): c.438G> T (p.Lys146Asn)single nucleotide variantPathogenicrs397516212GRCh37Chr 14, 23901912: 23901912
139TNNI3NM_000363.4(TNNI3): c.532_534delAAG (p.Lys178del)deletionPathogenicrs397516351GRCh37Chr 19, 55665413: 55665415
140TNNI3NM_000363.4(TNNI3): c.470C> T (p.Ala157Val)single nucleotide variantPathogenicrs397516353GRCh37Chr 19, 55665477: 55665477
141TNNI3NM_000363.4(TNNI3): c.557G> A (p.Arg186Gln)single nucleotide variantPathogenicrs397516357GRCh37Chr 19, 55663278: 55663278
142TNNT2NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp)single nucleotide variantPathogenicrs397516456GRCh37Chr 1, 201334426: 201334426
143TNNT2NM_000364.3(TNNT2): c.311G> A (p.Arg104His)single nucleotide variantPathogenicrs397516457GRCh37Chr 1, 201334419: 201334419
144TNNT2NM_000364.3(TNNT2): c.517_519delGAG (p.Glu173del)deletionPathogenicrs397516470GRCh37Chr 1, 201332505: 201332507
145TNNT2NM_000364.3(TNNT2): c.842+1G> Asingle nucleotide variantPathogenicrs111377893GRCh37Chr 1, 201328750: 201328750
146PRKAG2NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln)single nucleotide variantPathogenicrs121908987GRCh37Chr 7, 151273498: 151273498
147PRKAG2NM_016203.3(PRKAG2): c.1199C> A (p.Thr400Asn)single nucleotide variantLikely pathogenic, Pathogenicrs28938173GRCh37Chr 7, 151265836: 151265836
148PRKAG2NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln)single nucleotide variantPathogenicrs121908991GRCh37Chr 7, 151257696: 151257696
149MYBPC3NM_000256.3(MYBPC3): c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys)duplicationPathogenic, Uncertain significancers193922384GRCh38Chr 11, 47332127: 47332144
150MYBPC3NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln)single nucleotide variantPathogenicrs121909374GRCh37Chr 11, 47364129: 47364129
151MYBPC3NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter)single nucleotide variantPathogenicrs121909377GRCh37Chr 11, 47354789: 47354789
152MYBPC3NM_000256.3(MYBPC3): c.3330+2T> Gsingle nucleotide variantPathogenicrs387906397GRCh37Chr 11, 47354743: 47354743
153MT-TGm.9997T> Csingle nucleotide variantPathogenicrs121434475GRCh37Chr MT, 9997: 9997

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 1.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
51PathCards, 61Thomson Reuters, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database
See all sources

Pathways related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MYH7, MYLK2
2
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.1MYH7, MYLK2
3
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.0CAV3, MYLK2

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 52PharmGKB
See all sources

Compounds related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phenylephrine46 30 25 1212.4CAV3, MYH7
2isoproterenol46 1210.3CAV3, MYH7
3creatinine469.3CAV3, MYH7
4actomyosin469.2MYH7, MYLK2
5sodium46 2510.0CAV3, MYH7
6calcium46 52 25 1211.4MYLK2, MYH7, CAV3

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcomereGO:0300179.1MYH7, MYLK2
2Z discGO:0300188.5CAV3, TCAP, MYH7

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:0075129.5TCAP, MYH7
2cardiac muscle tissue morphogenesisGO:0550089.2TCAP, MYLK2
3regulation of heart rateGO:0020279.2MYH7, CAV3
4striated muscle contractionGO:0069419.1MYH7, MYLK2
5muscle filament slidingGO:0300499.1TCAP, MYH7
6cardiac muscle contractionGO:0600489.1TCAP, MYLK2

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.2CAV3, TCAP
2calmodulin bindingGO:0055168.8MYH7, MYLK2
3protein bindingGO:0055158.0CAV3, TCAP, MYH7, MYLK2

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 1

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet