Entry Search - 117000 180901 255320 602771 606210 - OMIM
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Search: '117000 180901 255320 602771 606210 (Search in: MIM number)'
Results: 5 entries.

1:
# 117000. CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA; CMYO1A
Cytogenetic location: 19q13.2
Matching terms: 117000
► 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
19q13.2 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia 117000 AD 3 RYR1 180901
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Myopathy, congenital (see also nemaline myopathy (PS161800), myofibrillar myopathy (PS601419), and centronuclear myopathy (PS160150) - PS117000 - 33 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.13 Congenital myopathy 19 AR 3 618578 PAX7 167410
1p36.11 Congenital myopathy 3 with rigid spine AR 3 602771 SELENON 606210
1p31.1 Congenital myopathy 21 with early respiratory failure AR 3 620326 DNAJB4 611327
1q21.3 Congenital myopathy 4A, autosomal dominant AD 3 255310 TPM3 191030
1q21.3 Congenital myopathy 4B, autosomal recessive AR 3 609284 TPM3 191030
1q32.1 Congenital myopathy 18 due to dihydropyridine receptor defect AD, AR 3 620246 CACNA1S 114208
1q42.13 Congenital myopathy 2C, severe infantile, autosomal dominant AD 3 620278 ACTA1 102610
1q42.13 Congenital myopathy 2B, severe infantile, autosomal recessive AR 3 620265 ACTA1 102610
1q42.13 Congenital myopathy 2A, typical, autosomal dominant AD 3 161800 ACTA1 102610
1q43 Congenital myopathy 8 AD 3 618654 ACTN2 102573
2q31.2 Congenital myopathy 5 with cardiomyopathy AR 3 611705 TTN 188840
2q34 Congenital myopathy 14 AR 3 618414 MYL1 160780
3q26.33 Congenital myopathy 9B, proximal, with minicore lesions AR 3 618823 FXR1 600819
3q26.33 ?Congenital myopathy 9A with respiratory insufficiency and bone fractures AR 3 618822 FXR1 600819
5q23.2 Congenital myopathy 10B, mild variant AR 3 620249 MEGF10 612453
5q23.2 Congenital myopathy 10A, severe variant AR 3 614399 MEGF10 612453
8q21.11 Congenital myopathy 25 AR 3 620964 JPH1 605266
9p13.3 Congenital myopathy 23 AD 3 609285 TPM2 190990
10p12.33 Congenital myopathy 11 AR 3 619967 HACD1 610467
10q21.3 Congenital myopathy 24 AR 3 617336 MYPN 608517
11p15.1 Congenital myopathy 17 AR 3 618975 MYOD1 159970
12q12 Congenital myopathy 12 AR 3 612540 CNTN1 600016
12q13.3 Congenital myopathy 13 AR 3 255995 STAC3 615521
12q23.2 Congenital myopathy 16 AD 3 618524 MYBPC1 160794
14q11.2 Congenital myopathy 7B, myosin storage, autosomal recessive AR 3 255160 MYH7 160760
14q11.2 Congenital myopathy 7A, myosin storage, autosomal dominant AD 3 608358 MYH7 160760
15q13.3-q14 Congenital myopathy 20 AR 3 620310 RYR3 180903
17p13.1 Congenital myopathy 6 with ophthalmoplegia AD, AR 3 605637 MYH2 160740
17q23.3 Congenital myopathy 22B, severe fetal AR 3 620369 SCN4A 603967
17q23.3 Congenital myopathy 22A, classic AR 3 620351 SCN4A 603967
19q13.2 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia AD 3 117000 RYR1 180901
19q13.2 Congenital myopathy 1B, autosomal recessive AR 3 255320 RYR1 180901
20q13.12 Congenital myopathy 15 AD 3 620161 TNNC2 191039
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ICD+
ORPHA: 178145, 597, 598
DO: 3529
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2:
* 606210. SELENOPROTEIN N; SELENON
Cytogenetic location: 1p36.11, Genomic coordinates (GRCh38): 1:25,800,193-25,818,221
Matching terms: 606210
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1p36.11 Congenital myopathy 3 with rigid spine 602771 AR 3
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ICD+
SNOMEDCT: 240063002
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3:
* 180901. RYANODINE RECEPTOR 1; RYR1
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:38,433,691-38,587,564
Matching terms: 180901
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
19q13.2 {Malignant hyperthermia susceptibility 1} 145600 AD 3
Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia 117000 AD 3
Congenital myopathy 1B, autosomal recessive 255320 AR 3
King-Denborough syndrome 619542 AD 3
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ICD+
SNOMEDCT: 764957003
ICD10CM: G71.29
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4:
# 602771. CONGENITAL MYOPATHY 3 WITH RIGID SPINE; CMYO3
Cytogenetic location: 1p36.11
Matching terms: 602771
► 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
1p36.11 Congenital myopathy 3 with rigid spine 602771 AR 3 SELENON 606210
▲ Close
Myopathy, congenital (see also nemaline myopathy (PS161800), myofibrillar myopathy (PS601419), and centronuclear myopathy (PS160150) - PS117000 - 33 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.13 Congenital myopathy 19 AR 3 618578 PAX7 167410
1p36.11 Congenital myopathy 3 with rigid spine AR 3 602771 SELENON 606210
1p31.1 Congenital myopathy 21 with early respiratory failure AR 3 620326 DNAJB4 611327
1q21.3 Congenital myopathy 4A, autosomal dominant AD 3 255310 TPM3 191030
1q21.3 Congenital myopathy 4B, autosomal recessive AR 3 609284 TPM3 191030
1q32.1 Congenital myopathy 18 due to dihydropyridine receptor defect AD, AR 3 620246 CACNA1S 114208
1q42.13 Congenital myopathy 2C, severe infantile, autosomal dominant AD 3 620278 ACTA1 102610
1q42.13 Congenital myopathy 2B, severe infantile, autosomal recessive AR 3 620265 ACTA1 102610
1q42.13 Congenital myopathy 2A, typical, autosomal dominant AD 3 161800 ACTA1 102610
1q43 Congenital myopathy 8 AD 3 618654 ACTN2 102573
2q31.2 Congenital myopathy 5 with cardiomyopathy AR 3 611705 TTN 188840
2q34 Congenital myopathy 14 AR 3 618414 MYL1 160780
3q26.33 Congenital myopathy 9B, proximal, with minicore lesions AR 3 618823 FXR1 600819
3q26.33 ?Congenital myopathy 9A with respiratory insufficiency and bone fractures AR 3 618822 FXR1 600819
5q23.2 Congenital myopathy 10B, mild variant AR 3 620249 MEGF10 612453
5q23.2 Congenital myopathy 10A, severe variant AR 3 614399 MEGF10 612453
8q21.11 Congenital myopathy 25 AR 3 620964 JPH1 605266
9p13.3 Congenital myopathy 23 AD 3 609285 TPM2 190990
10p12.33 Congenital myopathy 11 AR 3 619967 HACD1 610467
10q21.3 Congenital myopathy 24 AR 3 617336 MYPN 608517
11p15.1 Congenital myopathy 17 AR 3 618975 MYOD1 159970
12q12 Congenital myopathy 12 AR 3 612540 CNTN1 600016
12q13.3 Congenital myopathy 13 AR 3 255995 STAC3 615521
12q23.2 Congenital myopathy 16 AD 3 618524 MYBPC1 160794
14q11.2 Congenital myopathy 7B, myosin storage, autosomal recessive AR 3 255160 MYH7 160760
14q11.2 Congenital myopathy 7A, myosin storage, autosomal dominant AD 3 608358 MYH7 160760
15q13.3-q14 Congenital myopathy 20 AR 3 620310 RYR3 180903
17p13.1 Congenital myopathy 6 with ophthalmoplegia AD, AR 3 605637 MYH2 160740
17q23.3 Congenital myopathy 22B, severe fetal AR 3 620369 SCN4A 603967
17q23.3 Congenital myopathy 22A, classic AR 3 620351 SCN4A 603967
19q13.2 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia AD 3 117000 RYR1 180901
19q13.2 Congenital myopathy 1B, autosomal recessive AR 3 255320 RYR1 180901
20q13.12 Congenital myopathy 15 AD 3 620161 TNNC2 191039
▲ Close
ICD+
SNOMEDCT: 240063002
ORPHA: 324604, 598, 84132, 97244
DO: 0110633
▲ Close

5:
# 255320. CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; CMYO1B
Cytogenetic location: 19q13.2
Matching terms: 255320
► 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
19q13.2 Congenital myopathy 1B, autosomal recessive 255320 AR 3 RYR1 180901
▲ Close
Myopathy, congenital (see also nemaline myopathy (PS161800), myofibrillar myopathy (PS601419), and centronuclear myopathy (PS160150) - PS117000 - 33 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.13 Congenital myopathy 19 AR 3 618578 PAX7 167410
1p36.11 Congenital myopathy 3 with rigid spine AR 3 602771 SELENON 606210
1p31.1 Congenital myopathy 21 with early respiratory failure AR 3 620326 DNAJB4 611327
1q21.3 Congenital myopathy 4A, autosomal dominant AD 3 255310 TPM3 191030
1q21.3 Congenital myopathy 4B, autosomal recessive AR 3 609284 TPM3 191030
1q32.1 Congenital myopathy 18 due to dihydropyridine receptor defect AD, AR 3 620246 CACNA1S 114208
1q42.13 Congenital myopathy 2C, severe infantile, autosomal dominant AD 3 620278 ACTA1 102610
1q42.13 Congenital myopathy 2B, severe infantile, autosomal recessive AR 3 620265 ACTA1 102610
1q42.13 Congenital myopathy 2A, typical, autosomal dominant AD 3 161800 ACTA1 102610
1q43 Congenital myopathy 8 AD 3 618654 ACTN2 102573
2q31.2 Congenital myopathy 5 with cardiomyopathy AR 3 611705 TTN 188840
2q34 Congenital myopathy 14 AR 3 618414 MYL1 160780
3q26.33 Congenital myopathy 9B, proximal, with minicore lesions AR 3 618823 FXR1 600819
3q26.33 ?Congenital myopathy 9A with respiratory insufficiency and bone fractures AR 3 618822 FXR1 600819
5q23.2 Congenital myopathy 10B, mild variant AR 3 620249 MEGF10 612453
5q23.2 Congenital myopathy 10A, severe variant AR 3 614399 MEGF10 612453
8q21.11 Congenital myopathy 25 AR 3 620964 JPH1 605266
9p13.3 Congenital myopathy 23 AD 3 609285 TPM2 190990
10p12.33 Congenital myopathy 11 AR 3 619967 HACD1 610467
10q21.3 Congenital myopathy 24 AR 3 617336 MYPN 608517
11p15.1 Congenital myopathy 17 AR 3 618975 MYOD1 159970
12q12 Congenital myopathy 12 AR 3 612540 CNTN1 600016
12q13.3 Congenital myopathy 13 AR 3 255995 STAC3 615521
12q23.2 Congenital myopathy 16 AD 3 618524 MYBPC1 160794
14q11.2 Congenital myopathy 7B, myosin storage, autosomal recessive AR 3 255160 MYH7 160760
14q11.2 Congenital myopathy 7A, myosin storage, autosomal dominant AD 3 608358 MYH7 160760
15q13.3-q14 Congenital myopathy 20 AR 3 620310 RYR3 180903
17p13.1 Congenital myopathy 6 with ophthalmoplegia AD, AR 3 605637 MYH2 160740
17q23.3 Congenital myopathy 22B, severe fetal AR 3 620369 SCN4A 603967
17q23.3 Congenital myopathy 22A, classic AR 3 620351 SCN4A 603967
19q13.2 Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia AD 3 117000 RYR1 180901
19q13.2 Congenital myopathy 1B, autosomal recessive AR 3 255320 RYR1 180901
20q13.12 Congenital myopathy 15 AD 3 620161 TNNC2 191039
▲ Close
ICD+
ICD10CM: G71.29
ORPHA: 598, 98905
DO: 0080991
▲ Close
Search: 117000 180901 255320 602771 606210 (Search in: MIM number)
Results: 5 entries.

1:
# 117000. CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA; CMYO1A
Cytogenetic location: 19q13.2
Matching terms: 117000

2:
* 606210. SELENOPROTEIN N; SELENON
Cytogenetic location: 1p36.11, Genomic coordinates (GRCh38): 1:25,800,193-25,818,221
Matching terms: 606210

3:
* 180901. RYANODINE RECEPTOR 1; RYR1
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:38,433,691-38,587,564
Matching terms: 180901

4:
# 602771. CONGENITAL MYOPATHY 3 WITH RIGID SPINE; CMYO3
Cytogenetic location: 1p36.11
Matching terms: 602771

5:
# 255320. CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE; CMYO1B
Cytogenetic location: 19q13.2
Matching terms: 255320


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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 14, 2025