Entry Search - 172471 172490 261750 300559 300798 306000 311870 613027 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '172471 172490 261750 300559 300798 306000 311870 613027 (Search in: MIM number)'
Results: 8 entries.

1:
# 306000. GLYCOGEN STORAGE DISEASE IXa1; GSD9A1
GLYCOGEN STORAGE DISEASE IXa2, INCLUDED; GSD9A2, INCLUDED
Cytogenetic locations: Xp22.13,
Matching terms: 306000
► 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
Xp22.13 Glycogen storage disease, type IXa1 306000 XLR 3 PHKA2 300798
Xp22.13 Glycogen storage disease, type IXa2 306000 XLR 3 PHKA2 300798
▲ 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+
ORPHA: 264580
DO: 0111042
▲ Close

2:
# 300559. GLYCOGEN STORAGE DISEASE IXd; GSD9D
Cytogenetic location: Xq13.1
Matching terms: 300559
► 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
Xq13.1 Muscle glycogenosis 300559 XLR 3 PHKA1 311870
▲ 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: 819953000
ORPHA: 715
DO: 0111040
▲ Close

3:
* 300798. PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2
Cytogenetic location: Xp22.13, Genomic coordinates (GRCh38): X:18,892,298-18,984,114
Matching terms: 300798
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp22.13 Glycogen storage disease, type IXa1 306000 XLR 3
Glycogen storage disease, type IXa2 306000 XLR 3
▲ Close

4:
# 613027. GLYCOGEN STORAGE DISEASE IXc; GSD9C
Cytogenetic location: 16p11.2
Matching terms: 613027
► 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
16p11.2 Glycogen storage disease IXc 613027 AR 3 PHKG2 172471
▲ 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+
ORPHA: 264580
DO: 0111043
▲ Close

5:
* 311870. PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:72,578,814-72,714,306
Matching terms: 311870
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq13.1 Muscle glycogenosis 300559 XLR 3
▲ Close
ICD+
SNOMEDCT: 819953000
▲ Close

6:
* 172471. PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:30,748,425-30,761,176
Matching terms: 172471
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16p11.2 Glycogen storage disease IXc 613027 AR 3
▲ Close

7:
* 172490. PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB
Cytogenetic location: 16q12.1, Genomic coordinates (GRCh38): 16:47,461,299-47,701,523
Matching terms: 172490
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16q12.1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 AR 3
▲ Close
ICD+
SNOMEDCT: 860860004
▲ Close

8:
# 261750. GLYCOGEN STORAGE DISEASE IXb; GSD9B
Cytogenetic location: 16q12.1
Matching terms: 261750
► 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
16q12.1 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 AR 3 PHKB 172490
▲ 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: 860860004
ORPHA: 79240
DO: 0111041
▲ Close
Search: 172471 172490 261750 300559 300798 306000 311870 613027 (Search in: MIM number)
Results: 8 entries.

1:
# 306000. GLYCOGEN STORAGE DISEASE IXa1; GSD9A1
GLYCOGEN STORAGE DISEASE IXa2, INCLUDED; GSD9A2, INCLUDED
Cytogenetic locations: Xp22.13,
Matching terms: 306000

2:
# 300559. GLYCOGEN STORAGE DISEASE IXd; GSD9D
Cytogenetic location: Xq13.1
Matching terms: 300559

3:
* 300798. PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2
Cytogenetic location: Xp22.13, Genomic coordinates (GRCh38): X:18,892,298-18,984,114
Matching terms: 300798

4:
# 613027. GLYCOGEN STORAGE DISEASE IXc; GSD9C
Cytogenetic location: 16p11.2
Matching terms: 613027

5:
* 311870. PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:72,578,814-72,714,306
Matching terms: 311870

6:
* 172471. PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:30,748,425-30,761,176
Matching terms: 172471

7:
* 172490. PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB
Cytogenetic location: 16q12.1, Genomic coordinates (GRCh38): 16:47,461,299-47,701,523
Matching terms: 172490

8:
# 261750. GLYCOGEN STORAGE DISEASE IXb; GSD9B
Cytogenetic location: 16q12.1
Matching terms: 261750


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.

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