MCID: CRD086
MIFTS: 14

Cardiomyopathy, Familial Hypertrophic, 1 malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 1

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46OMIM, 32MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 1 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 1 is MYH7 (myosin, heavy chain 7, cardiac muscle, beta).

Description from OMIM:46 192600

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

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46OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 1 46


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 1

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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

Clinical Features for Cardiomyopathy, Familial Hypertrophic, 1

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46OMIM
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Clinical features from OMIM:

192600

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

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

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Publications for Cardiomyopathy, Familial Hypertrophic, 1

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Genetic Variations for Cardiomyopathy, Familial Hypertrophic, 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

62 (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

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet