Entry Search - 232200 232220 602671 613742 - OMIM
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Search: '232200 232220 602671 613742 (Search in: MIM number)'
Results: 4 entries.

1:
# 232220. GLYCOGEN STORAGE DISEASE Ib; GSD1B
Cytogenetic location: 11q23.3
Matching terms: 232220
► 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
11q23.3 Glycogen storage disease Ib 232220 AR 3 SLC37A4 602671
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Glycogen storage disease - PS232200 - 24 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p31.3 Congenital disorder of glycosylation, type It AR 3 614921 PGM1 171900
1p21.2 Glycogen storage disease IIIb AR 3 232400 AGL 610860
1p21.2 Glycogen storage disease IIIa AR 3 232400 AGL 610860
3p12.2 Glycogen storage disease IV AR 3 232500 GBE1 607839
3q24 ?Glycogen storage disease XV AR 3 613507 GYG1 603942
7p13 Glycogen storage disease X AR 3 261670 PGAM2 612931
7q36.1 Glycogen storage disease of heart, lethal congenital AD 3 261740 PRKAG2 602743
11p15.1 Glycogen storage disease XI AR 3 612933 LDHA 150000
11q13.1 McArdle disease AR 3 232600 PYGM 608455
11q23.3 Glycogen storage disease Ic AR 3 232240 SLC37A4 602671
11q23.3 Glycogen storage disease Ib AR 3 232220 SLC37A4 602671
12p12.1 Glycogen storage disease 0, liver AR 3 240600 GYS2 138571
12q13.11 Glycogen storage disease VII AR 3 232800 PFKM 610681
14q22.1 Glycogen storage disease VI AR 3 232700 PYGL 613741
16p11.2 Glycogen storage disease XII AR 3 611881 ALDOA 103850
16p11.2 Glycogen storage disease IXc AR 3 613027 PHKG2 172471
16q12.1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive AR 3 261750 PHKB 172490
17p13.2 Glycogen storage disease XIII AR 3 612932 ENO3 131370
17q21.31 Glycogen storage disease Ia AR 3 232200 G6PC 613742
17q25.3 Glycogen storage disease II AR 3 232300 GAA 606800
19q13.33 Glycogen storage disease 0, muscle AR 3 611556 GYS1 138570
Xp22.13 Glycogen storage disease, type IXa1 XLR 3 306000 PHKA2 300798
Xp22.13 Glycogen storage disease, type IXa2 XLR 3 306000 PHKA2 300798
Xq13.1 Muscle glycogenosis XLR 3 300559 PHKA1 311870
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ICD+
SNOMEDCT: 30102006
ORPHA: 364, 79259
DO: 0081330
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2:
* 613742. GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
Cytogenetic location: 17q21.31, Genomic coordinates (GRCh38): 17:42,900,799-42,914,438
Matching terms: 613742
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q21.31 Glycogen storage disease Ia 232200 AR 3
▲ Close
ICD+
SNOMEDCT: 444707001
▲ Close

3:
# 232200. GLYCOGEN STORAGE DISEASE Ia; GSD1A
Cytogenetic location: 17q21.31
Matching terms: 232200
► 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
17q21.31 Glycogen storage disease Ia 232200 AR 3 G6PC 613742
▲ Close
Glycogen storage disease - PS232200 - 24 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p31.3 Congenital disorder of glycosylation, type It AR 3 614921 PGM1 171900
1p21.2 Glycogen storage disease IIIb AR 3 232400 AGL 610860
1p21.2 Glycogen storage disease IIIa AR 3 232400 AGL 610860
3p12.2 Glycogen storage disease IV AR 3 232500 GBE1 607839
3q24 ?Glycogen storage disease XV AR 3 613507 GYG1 603942
7p13 Glycogen storage disease X AR 3 261670 PGAM2 612931
7q36.1 Glycogen storage disease of heart, lethal congenital AD 3 261740 PRKAG2 602743
11p15.1 Glycogen storage disease XI AR 3 612933 LDHA 150000
11q13.1 McArdle disease AR 3 232600 PYGM 608455
11q23.3 Glycogen storage disease Ic AR 3 232240 SLC37A4 602671
11q23.3 Glycogen storage disease Ib AR 3 232220 SLC37A4 602671
12p12.1 Glycogen storage disease 0, liver AR 3 240600 GYS2 138571
12q13.11 Glycogen storage disease VII AR 3 232800 PFKM 610681
14q22.1 Glycogen storage disease VI AR 3 232700 PYGL 613741
16p11.2 Glycogen storage disease XII AR 3 611881 ALDOA 103850
16p11.2 Glycogen storage disease IXc AR 3 613027 PHKG2 172471
16q12.1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive AR 3 261750 PHKB 172490
17p13.2 Glycogen storage disease XIII AR 3 612932 ENO3 131370
17q21.31 Glycogen storage disease Ia AR 3 232200 G6PC 613742
17q25.3 Glycogen storage disease II AR 3 232300 GAA 606800
19q13.33 Glycogen storage disease 0, muscle AR 3 611556 GYS1 138570
Xp22.13 Glycogen storage disease, type IXa1 XLR 3 306000 PHKA2 300798
Xp22.13 Glycogen storage disease, type IXa2 XLR 3 306000 PHKA2 300798
Xq13.1 Muscle glycogenosis XLR 3 300559 PHKA1 311870
▲ Close
ICD+
SNOMEDCT: 444707001
ORPHA: 364, 79258
DO: 2749
▲ Close

4:
* 602671. SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4
Cytogenetic location: 11q23.3, Genomic coordinates (GRCh38): 11:119,024,112-119,030,877
Matching terms: 602671
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
11q23.3 Congenital disorder of glycosylation, type IIw 619525 AD 3
Glycogen storage disease Ib 232220 AR 3
Glycogen storage disease Ic 232240 AR 3
▲ Close
ICD+
SNOMEDCT: 237965005, 30102006
▲ Close
Search: 232200 232220 602671 613742 (Search in: MIM number)
Results: 4 entries.

1:
# 232220. GLYCOGEN STORAGE DISEASE Ib; GSD1B
Cytogenetic location: 11q23.3
Matching terms: 232220

2:
* 613742. GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC
Cytogenetic location: 17q21.31, Genomic coordinates (GRCh38): 17:42,900,799-42,914,438
Matching terms: 613742

3:
# 232200. GLYCOGEN STORAGE DISEASE Ia; GSD1A
Cytogenetic location: 17q21.31
Matching terms: 232200

4:
* 602671. SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4
Cytogenetic location: 11q23.3, Genomic coordinates (GRCh38): 11:119,024,112-119,030,877
Matching terms: 602671


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: April 25, 2024