Entry Search - 114240 253600 618129

Search: '114240 253600 618129 (Search in: MIM number)'

Results: 3 entries.

* 114240. CALPAIN 3; CAPN3
Cytogenetic location: 15q15.1, Genomic coordinates (GRCh38): 15:42,359,501-42,412,317
Matching terms: 114240
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q15.1	Muscular dystrophy, limb-girdle, autosomal dominant 4	618129	AD	3
15q15.1	Muscular dystrophy, limb-girdle, autosomal recessive 1	253600	AR	3

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Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene OMIA Wormbase Gene WBGene00000542 WBGene00000544 WBGene00000545 WBGene00000546 WBGene00000547 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1279886003, 370474006, 715341003 ICD10CM: G71.032

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# 618129. MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4
Cytogenetic location: 15q15.1
Matching terms: 618129
► 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
15q15.1	Muscular dystrophy, limb-girdle, autosomal dominant 4	618129	AD	3	CAPN3	114240

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Muscular dystrophy, limb-girdle, autosomal dominant - PS603511 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p25.1-p23	Muscular dystrophy, limb-girdle, type 1H	AD	2	613530	LGMD1H	613530
4q21.22	Muscular dystrophy, limb-girdle, autosomal dominant 3	AD	3	609115	HNRNPDL	607137
7q32.1	Muscular dystrophy, limb-girdle, autosomal dominant 2	AD	3	608423	TNPO3	610032
7q36.3	Muscular dystrophy, limb-girdle, autosomal dominant 1	AD	3	603511	DNAJB6	611332
15q15.1	Muscular dystrophy, limb-girdle, autosomal dominant 4	AD	3	618129	CAPN3	114240
21q22.3	Bethlem myopathy 1A	AD, AR	3	158810	COL6A1	120220

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR GARD OrphaNet	Animal Models NCBI HomoloGene OMIA

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ICD+
SNOMEDCT: 1279886003 ORPHA: 565909

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# 253600. MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1
MYOSITIS, EOSINOPHILIC, INCLUDED
Cytogenetic location: 15q15.1
Matching terms: 253600
► 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
15q15.1	Muscular dystrophy, limb-girdle, autosomal recessive 1	253600	AR	3	CAPN3	114240

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Muscular dystrophy, limb-girdle, autosomal recessive - PS253600 - 30 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	AR	3	613157	POMGNT1	606822
1q25.2	?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures	AR	3	617072	TOR1AIP1	614512
2p13.2	Muscular dystrophy, limb-girdle, autosomal recessive 2	AR	3	253601	DYSF	603009
2q14.3	?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue	AR	3	616827	LIMS2	607908
2q31.2	Muscular dystrophy, limb-girdle, autosomal recessive 10	AR	3	608807	TTN	188840
3p22.1	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8	AR	3	618135	POMGNT2	614828
3p21.31	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	AR	3	613818	DAG1	128239
3p21.31	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	AR	3	615352	GMPPB	615320
3q13.33	Muscular dystrophy, limb-girdle, autosomal recessive 21	AR	3	617232	POGLUT1	615618
4q12	Muscular dystrophy, limb-girdle, autosomal recessive 4	AR	3	604286	SGCB	600900
4q35.1	Muscular dystrophy, limb-girdle, autosomal recessive 18	AR	3	615356	TRAPPC11	614138
5q13.3	Muscular dystrophy, limb-girdle, autosomal recessive 28	AR	3	620375	HMGCR	142910
5q33.2-q33.3	Muscular dystrophy, limb-girdle, autosomal recessive 6	AR	3	601287	SGCD	601411
6q21	Muscular dystrophy, limb-girdle, autosomal recessive 25	AR	3	616812	BVES	604577
6q21	Muscular dystrophy, limb-girdle, autosomal recessive 26	AR	3	618848	POPDC3	605824
6q22.33	Muscular dystrophy, limb-girdle, autosomal recessive 23	AR	3	618138	LAMA2	156225
7p21.2	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	AR	3	616052	CRPPA	614631
8q24.3	Muscular dystrophy, limb-girdle, autosomal recessive 17	AR	3	613723	PLEC1	601282
9q31.2	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	AR	3	611588	FKTN	607440
9q33.1	Muscular dystrophy, limb-girdle, autosomal recessive 8	AR	3	254110	TRIM32	602290
9q34.13	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	AR	3	609308	POMT1	607423
11p14.3	Muscular dystrophy, limb-girdle, autosomal recessive 12	AR	3	611307	ANO5	608662
13q12.12	Muscular dystrophy, limb-girdle, autosomal recessive 5	AR	3	253700	SGCG	608896
14q24.3	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	AR	3	613158	POMT2	607439
14q32.33	Muscular dystrophy, limb-girdle, autosomal recessive 27	AR	3	619566	JAG2	602570
15q15.1	Muscular dystrophy, limb-girdle, autosomal recessive 1	AR	3	253600	CAPN3	114240
17q12	Muscular dystrophy, limb-girdle, autosomal recessive 7	AR	3	601954	TCAP	604488
17q21.33	Muscular dystrophy, limb-girdle, autosomal recessive 3	AR	3	608099	SGCA	600119
19q13.32	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	AR	3	607155	FKRP	606596
21q22.3	Ullrich congenital muscular dystrophy 1A	AD, AR	3	254090	COL6A1	120220

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 715341003 ICD10CM: G71.032 ORPHA: 267 DO: 0110275

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Search: 114240 253600 618129 (Search in: MIM number)

Results: 3 entries.

* 114240. CALPAIN 3; CAPN3
Cytogenetic location: 15q15.1, Genomic coordinates (GRCh38): 15:42,359,501-42,412,317
Matching terms: 114240

# 618129. MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4
Cytogenetic location: 15q15.1
Matching terms: 618129

# 253600. MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1
MYOSITIS, EOSINOPHILIC, INCLUDED
Cytogenetic location: 15q15.1
Matching terms: 253600

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Printed: May 14, 2024