Entry Search - 114208 145600 154275 154276 180901 600467 601887 601888 615521 - OMIM
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Search: '114208 145600 154275 154276 180901 600467 601887 601888 615521 (Search in: MIM number)'
Results: 9 entries.

1:
* 114208. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
Cytogenetic location: 1q32.1, Genomic coordinates (GRCh38): 1:201,039,512-201,112,426
Matching terms: 114208
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q32.1 {Malignant hyperthermia susceptibility 5} 601887 AD 3
{Thyrotoxic periodic paralysis, susceptibility to, 1} 188580 AD 3
Congenital myopathy 18 due to dihydropyridine receptor defect 620246 AD, AR 3
Hypokalemic periodic paralysis, type 1 170400 AD 3
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2:
# 601887. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
Cytogenetic location: 1q32.1
Matching terms: 601887
► 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
1q32.1 {Malignant hyperthermia susceptibility 5} 601887 AD 3 CACNA1S 114208
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ICD+
ORPHA: 423
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3:
% 601888. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6
Cytogenetic location: 5p, Genomic coordinates (GRCh38): 5:1-48,800,001
Matching terms: 601888
► Gene-Phenotype Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5p {Malignant hyperthermia susceptibility 6} 601888 2
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ICD+
ORPHA: 423
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4:
* 615521. SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3
Cytogenetic location: 12q13.3, Genomic coordinates (GRCh38): 12:57,243,458-57,251,187
Matching terms: 615521
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
12q13.3 Congenital myopathy 13 255995 AR 3
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ICD+
SNOMEDCT: 723439002
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5:
# 145600. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Cytogenetic location: 19q13.2
Matching terms: 145600
► 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 {Malignant hyperthermia susceptibility 1} 145600 AD 3 RYR1 180901
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ICD+
SNOMEDCT: 213026003, 405501007
ICD10CM: T88.3
ICD9CM: 995.86
ORPHA: 423
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6:
% 154275. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2
Cytogenetic location: 17q11.2-q24, Genomic coordinates (GRCh38): 17:27,400,001-72,900,000
Matching terms: 154275
► Gene-Phenotype Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q11.2-q24 {Malignant hyperthermia susceptibility 2} 154275 AD 2
▲ Close
ICD+
ORPHA: 423
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7:
% 154276. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3
Cytogenetic location: 7q21-q22, Genomic coordinates (GRCh38): 7:77,900,001-107,800,000
Matching terms: 154276
► Gene-Phenotype Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
7q21-q22 {Malignant hyperthermia susceptibility 3} 154276 AD 2
▲ Close
ICD+
ORPHA: 423
▲ Close

8:
% 600467. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
Cytogenetic location: 3q13.1, Genomic coordinates (GRCh38): 3:103,100,001-111,600,000
Matching terms: 600467
► Gene-Phenotype Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3q13.1 {Malignant hyperthermia susceptibility 4} 600467 AD 2
▲ Close
ICD+
ORPHA: 423
▲ Close

9:
* 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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Search: 114208 145600 154275 154276 180901 600467 601887 601888 615521 (Search in: MIM number)
Results: 9 entries.

1:
* 114208. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S
Cytogenetic location: 1q32.1, Genomic coordinates (GRCh38): 1:201,039,512-201,112,426
Matching terms: 114208

2:
# 601887. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; MHS5
Cytogenetic location: 1q32.1
Matching terms: 601887

3:
% 601888. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6
Cytogenetic location: 5p, Genomic coordinates (GRCh38): 5:1-48,800,001
Matching terms: 601888

4:
* 615521. SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3
Cytogenetic location: 12q13.3, Genomic coordinates (GRCh38): 12:57,243,458-57,251,187
Matching terms: 615521

5:
# 145600. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
Cytogenetic location: 19q13.2
Matching terms: 145600

6:
% 154275. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2
Cytogenetic location: 17q11.2-q24, Genomic coordinates (GRCh38): 17:27,400,001-72,900,000
Matching terms: 154275

7:
% 154276. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3
Cytogenetic location: 7q21-q22, Genomic coordinates (GRCh38): 7:77,900,001-107,800,000
Matching terms: 154276

8:
% 600467. MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
Cytogenetic location: 3q13.1, Genomic coordinates (GRCh38): 3:103,100,001-111,600,000
Matching terms: 600467

9:
* 180901. RYANODINE RECEPTOR 1; RYR1
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:38,433,691-38,587,564
Matching terms: 180901


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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 5, 2025