Entry Search - 123320 192600 601253 606072 611818 614321 - OMIM
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Search: '123320 192600 601253 606072 611818 614321 (Search in: MIM number)'
Results: 6 entries.

1:
* 601253. CAVEOLIN 3; CAV3
Cytogenetic location: 3p25.3, Genomic coordinates (GRCh38): 3:8,733,802-8,746,758
Matching terms: 601253
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3p25.3 Cardiomyopathy, familial hypertrophic 192600 AD, DD 3
Creatine phosphokinase, elevated serum 123320 AD 3
Long QT syndrome 9 611818 AD 3
Myopathy, distal, Tateyama type 614321 AD 3
Rippling muscle disease 2 606072 AD 3
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ICD+
SNOMEDCT: 711265009, 83978005
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2:
# 606072. RIPPLING MUSCLE DISEASE 2; RMD2
Cytogenetic location: 3p25.3
Matching terms: 606072
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p25.3 Rippling muscle disease 2 606072 AD 3 CAV3 601253
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ICD+
SNOMEDCT: 709281006
ORPHA: 97238
DO: 0060255
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3:
# 123320. CREATINE PHOSPHOKINASE, ELEVATED SERUM
Cytogenetic location: 3p25.3
Matching terms: 123320
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p25.3 Creatine phosphokinase, elevated serum 123320 AD 3 CAV3 601253
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ICD+
ORPHA: 206599
DO: 0111338
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4:
# 611818. LONG QT SYNDROME 9; LQT9
LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
Cytogenetic location: 3p25.3
Matching terms: 611818
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p25.3 Long QT syndrome 9 611818 AD 3 CAV3 601253
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ICD+
ORPHA: 101016, 768
DO: 0110650
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5:
# 614321. MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT
Cytogenetic location: 3p25.3
Matching terms: 614321
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p25.3 Myopathy, distal, Tateyama type 614321 AD 3 CAV3 601253
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ICD+
SNOMEDCT: 711265009
ORPHA: 488650
DO: 0111191
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6:
# 192600. CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
Cytogenetic locations: 3p25.3, 14q11.2, 20q11.21
Matching terms: 192600
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p25.3 Cardiomyopathy, familial hypertrophic 192600 AD, DD 3 CAV3 601253
14q11.2 Cardiomyopathy, hypertrophic, 1 192600 AD, DD 3 MYH7 160760
20q11.21 Cardiomyopathy, hypertrophic, 1, digenic 192600 AD, DD 3 MYLK2 606566
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Cardiomyopathy, familial hypertrophic - PS192600 - 37 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p31.1 Cardiomyopathy, hypertrophic, 20 AD 3 613876 NEXN 613121
1q32.1 Cardiomyopathy, hypertrophic, 2 AD 3 115195 TNNT2 191045
1q43 Cardiomyopathy, hypertrophic, 23, with or without LVNC AD 3 612158 ACTN2 102573
1q43 Cardiomyopathy, dilated, 1AA, with or without LVNC AD 3 612158 ACTN2 102573
2q31.2 Cardiomyopathy, familial hypertrophic, 9 AD 3 613765 TTN 188840
3p25.3 Cardiomyopathy, familial hypertrophic AD, DD 3 192600 CAV3 601253
3p21.31 Cardiomyopathy, hypertrophic, 8 AD, AR 3 608751 MYL3 160790
3p21.1 Cardiomyopathy, hypertrophic, 13 AD 3 613243 TNNC1 191040
3q27.1 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies AR 3 620236 KLHL24 611295
4p12 ?Cardiomyopathy, familial hypertrophic, 30, atrial AR 3 620734 CORIN 605236
4q26 Cardiomyopathy, hypertrophic, 16 AD 3 613838 MYOZ2 605602
6q22.31 Cardiomyopathy, hypertrophic, 18 AD 3 613874 PLN 172405
7p12.1-q21 Cardiomyopathy, hypertrophic, 21 AD 2 614676 CMH21 614676
7q32.1 Cardiomyopathy, familial restrictive 5 AD 3 617047 FLNC 102565
7q32.1 Arrhythmogenic right ventricular dysplasia, familial AD 3 617047 FLNC 102565
7q32.1 Cardiomyopathy, familial hypertrophic, 26 AD 3 617047 FLNC 102565
7q36.1 Cardiomyopathy, hypertrophic 6 AD 3 600858 PRKAG2 602743
10q21.3 Cardiomyopathy, dilated, 1KK AD 3 615248 MYPN 608517
10q21.3 Cardiomyopathy, familial restrictive, 4 AD 3 615248 MYPN 608517
10q21.3 Cardiomyopathy, hypertrophic, 22 AD 3 615248 MYPN 608517
10q22.2 Cardiomyopathy, hypertrophic, 15 AD 3 613255 VCL 193065
10q23.2 Cardiomyopathy, hypertrophic, 24 AD 3 601493 LDB3 605906
10q23.2 Left ventricular noncompaction 3 AD 3 601493 LDB3 605906
10q23.2 Cardiomyopathy, dilated, 1C, with or without LVNC AD 3 601493 LDB3 605906
11p15.1 Cardiomyopathy, hypertrophic, 12 AD 3 612124 CSRP3 600824
11p11.2 Cardiomyopathy, hypertrophic, 4 AD, AR 3 115197 MYBPC3 600958
12q24.11 Cardiomyopathy, hypertrophic, 10 AD 3 608758 MYL2 160781
14q11.2 Cardiomyopathy, hypertrophic, 14 AD 3 613251 MYH6 160710
14q11.2 Cardiomyopathy, hypertrophic, 1 AD, DD 3 192600 MYH7 160760
15q14 Cardiomyopathy, hypertrophic, 11 AD 3 612098 ACTC1 102540
15q22.2 Cardiomyopathy, hypertrophic, 3 AD 3 115196 TPM1 191010
15q25.3 Cardiomyopathy, familial hypertrophic 27 AR 3 618052 ALPK3 617608
17q12 Cardiomyopathy, hypertrophic, 25 AD 3 607487 TCAP 604488
18q12.2 Cardiomyopathy, familial hypertrophic, 28 AD 3 619402 FHOD3 609691
19q13.42 Cardiomyopathy, hypertrophic, 7 AD 3 613690 TNNI3 191044
20q11.21 Cardiomyopathy, hypertrophic, 1, digenic AD, DD 3 192600 MYLK2 606566
20q13.12 Cardiomyopathy, hypertrophic, 17 AD 3 613873 JPH2 605267
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ICD+
SNOMEDCT: 83978005
ICD10CM: I42.1
DO: 0110307
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Search: 123320 192600 601253 606072 611818 614321 (Search in: MIM number)
Results: 6 entries.

1:
* 601253. CAVEOLIN 3; CAV3
Cytogenetic location: 3p25.3, Genomic coordinates (GRCh38): 3:8,733,802-8,746,758
Matching terms: 601253

2:
# 606072. RIPPLING MUSCLE DISEASE 2; RMD2
Cytogenetic location: 3p25.3
Matching terms: 606072

3:
# 123320. CREATINE PHOSPHOKINASE, ELEVATED SERUM
Cytogenetic location: 3p25.3
Matching terms: 123320

4:
# 611818. LONG QT SYNDROME 9; LQT9
LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED
Cytogenetic location: 3p25.3
Matching terms: 611818

5:
# 614321. MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT
Cytogenetic location: 3p25.3
Matching terms: 614321

6:
# 192600. CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
Cytogenetic locations: 3p25.3, 14q11.2, 20q11.21
Matching terms: 192600


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 13, 2025