Entry Search - 230500 230600 230650 253010 611458

Search: '230500 230600 230650 253010 611458 (Search in: MIM number)'

Results: 5 entries.

* 611458. GALACTOSIDASE, BETA-1; GLB1
ELASTIN-BINDING PROTEIN, INCLUDED; EBP, INCLUDED
Cytogenetic location: 3p22.3, Genomic coordinates (GRCh38): 3:32,961,108-33,097,146
Matching terms: 611458
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p22.3	GM1-gangliosidosis, type I	230500	AR	3
	GM1-gangliosidosis, type II	230600	AR	3
	GM1-gangliosidosis, type III	230650	AR	3
	Mucopolysaccharidosis type IVB (Morquio)	253010	AR	3

▲ Close

Links
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 gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

▲ Close

ICD+
SNOMEDCT: 18756002, 238026007, 238027003, 238044004 ICD10CM: E76.211

▲ Close

# 253010. MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B
Cytogenetic location: 3p22.3
Matching terms: 253010
► 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
3p22.3	Mucopolysaccharidosis type IVB (Morquio)	253010	AR	3	GLB1	611458

▲ Close

Mucopolysaccharidoses - PS607014 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p22.3	Mucopolysaccharidosis type IVB (Morquio)	AR	3	253010	GLB1	611458
3p21.31	Mucopolysaccharidosis type IX	AR	3	601492	HYAL1	607071
4p16.3	Mucopolysaccharidosis Ih/s	AR	3	607015	IDUA	252800
4p16.3	Mucopolysaccharidosis Ih	AR	3	607014	IDUA	252800
4p16.3	Mucopolysaccharidosis Is	AR	3	607016	IDUA	252800
5q14.1	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	AR	3	253200	ARSB	611542
5q15	Mucopolysaccharidosis, type X	AR	3	619698	ARSK	610011
7q11.21	Mucopolysaccharidosis VII	AR	3	253220	GUSB	611499
8p11.21-p11.1	Mucopolysaccharidosis type IIIC (Sanfilippo C)	AR	3	252930	HGSNAT	610453
16q24.3	Mucopolysaccharidosis IVA	AR	3	253000	GALNS	612222
17q21.2	Mucopolysaccharidosis type IIIB (Sanfilippo B)	AR	3	252920	NAGLU	609701
17q25.3	Mucopolysaccharidosis type IIIA (Sanfilippo A)	AR	3	252900	SGSH	605270
Xq28	Mucopolysaccharidosis II	XLR	3	309900	IDS	300823

▲ Close

Links
Testing GTR EuroGentest Mucopolysaccharidosis type… Mucopolysaccharidosis type…	Clinical Resources Clinical Trials EuroGentest Mucopolysaccharidosis type… Mucopolysaccharidosis type… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Mucopolysaccharidosis type… Mucopolysaccharidosis type…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 238044004 ICD10CM: E76.211 ORPHA: 309310, 582 DO: 0111392

▲ Close

# 230500. GM1-GANGLIOSIDOSIS, TYPE I; GM1G1
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
Cytogenetic location: 3p22.3
Matching terms: 230500
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3p22.3	GM1-gangliosidosis, type I	230500	AR	3	GLB1	611458

▲ Close

Links
Testing GTR EuroGentest GM1 gangliosidosis GM1 gangliosidosis type 1	Clinical Resources Clinical Trials EuroGentest GM1 gangliosidosis GM1 gangliosidosis type 1 Gene Reviews Genetic Alliance GTR OrphaNet GM1 gangliosidosis GM1 gangliosidosis type 1 POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 238025006, 238026007 ICD10CM: E75.19 ORPHA: 354, 79255 DO: 0080502

▲ Close

# 230600. GM1-GANGLIOSIDOSIS, TYPE II; GM1G2
GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
Cytogenetic location: 3p22.3
Matching terms: 230600
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3p22.3	GM1-gangliosidosis, type II	230600	AR	3	GLB1	611458

▲ Close

Links
Testing GTR EuroGentest GM1 gangliosidosis GM1 gangliosidosis type 2	Clinical Resources Clinical Trials EuroGentest GM1 gangliosidosis GM1 gangliosidosis type 2 Gene Reviews Genetic Alliance GTR OrphaNet GM1 gangliosidosis GM1 gangliosidosis type 2	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 18756002 ORPHA: 354, 79256 DO: 0080501

▲ Close

# 230650. GM1-GANGLIOSIDOSIS, TYPE III; GM1G3
Cytogenetic location: 3p22.3
Matching terms: 230650
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3p22.3	GM1-gangliosidosis, type III	230650	AR	3	GLB1	611458

▲ Close

Links
Testing GTR EuroGentest GM1 gangliosidosis GM1 gangliosidosis type 3	Clinical Resources Clinical Trials EuroGentest GM1 gangliosidosis GM1 gangliosidosis type 3 Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet GM1 gangliosidosis GM1 gangliosidosis type 3	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 238027003 ORPHA: 354, 79257 DO: 0080489

▲ Close

Search: 230500 230600 230650 253010 611458 (Search in: MIM number)

Results: 5 entries.

* 611458. GALACTOSIDASE, BETA-1; GLB1
ELASTIN-BINDING PROTEIN, INCLUDED; EBP, INCLUDED
Cytogenetic location: 3p22.3, Genomic coordinates (GRCh38): 3:32,961,108-33,097,146
Matching terms: 611458

# 253010. MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B
Cytogenetic location: 3p22.3
Matching terms: 253010

# 230500. GM1-GANGLIOSIDOSIS, TYPE I; GM1G1
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
Cytogenetic location: 3p22.3
Matching terms: 230500

# 230600. GM1-GANGLIOSIDOSIS, TYPE II; GM1G2
GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
Cytogenetic location: 3p22.3
Matching terms: 230600

# 230650. GM1-GANGLIOSIDOSIS, TYPE III; GM1G3
Cytogenetic location: 3p22.3
Matching terms: 230650

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