GSD1B
MCID: GLY016
MIFTS: 41

Glycogen Storage Disease Ib (GSD1B)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease Ib

MalaCards integrated aliases for Glycogen Storage Disease Ib:

Name: Glycogen Storage Disease Ib 57 72 13
Glucose-6-Phosphate Transport Defect 57 20 72 29 6 70
Gsd1b 57 20 72
Glycogen Storage Disease Type 1b 73 20
Gsd Ib 57 72
Glycogen Storage Disease, Type Ib 39
Glycogen Storage Disease 1b 72
Gsd-Ib 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
recurrent bacterial infections

Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease ib:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ib

GARD : 20 Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia (high levels of a waste product called uric acid in the body), and hyperlipidemia. Affected people may also have short stature ; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1B is caused by changes ( mutations ) in the SLC37A4 gene and is inherited in an autosomal recessive manner. Although there is currently no cure for the condition, symptoms can often be managed with a special diet in combination with certain medications.

MalaCards based summary : Glycogen Storage Disease Ib, also known as glucose-6-phosphate transport defect, is related to glycogen storage disease ia and glycogen storage disease ic. An important gene associated with Glycogen Storage Disease Ib is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include liver, neutrophil and kidney, and related phenotypes are hypertension and hepatomegaly

UniProtKB/Swiss-Prot : 72 Glycogen storage disease 1B: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.

Wikipedia : 73 Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable... more...

More information from OMIM: 232220

Related Diseases for Glycogen Storage Disease Ib

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ia 11.4
2 glycogen storage disease ic 11.3
3 glycogen storage disease 10.7
4 inherited metabolic disorder 10.5
5 neutropenia 10.4
6 hepatocellular adenoma 10.4
7 inflammatory bowel disease 10.3
8 colitis 10.3
9 glycogen storage disease due to glucose-6-phosphatase deficiency type ib 10.3
10 hyperuricemia 10.3
11 dental caries 10.3
12 abdominal obesity-metabolic syndrome 1 10.3
13 glucose intolerance 10.3
14 adenoma 10.3
15 hypoglycemia 10.2
16 glycogen storage disease due to glucose-6-phosphatase deficiency 10.2
17 hypertriglyceridemia, familial 10.2
18 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.2
19 myasthenia gravis 10.2
20 ocular motor apraxia 10.2
21 retinitis pigmentosa 10.2
22 rheumatic fever-related antigen 10.2
23 yemenite deaf-blind hypopigmentation syndrome 10.2
24 neutrophilic dermatosis, acute febrile 10.2
25 fatty liver disease, nonalcoholic 1 10.2
26 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
27 deficiency anemia 10.2
28 severe congenital neutropenia 10.2
29 ptosis 10.2
30 non-alcoholic fatty liver disease 10.2
31 urinary tract infection 10.2
32 neuroretinitis 10.2
33 microphthalmia 10.2
34 iron deficiency anemia 10.2
35 pancytopenia 10.2
36 von willebrand's disease 10.2
37 optic disk drusen 10.2
38 rheumatic fever 10.2
39 thrombocytopenia 10.2
40 iron metabolism disease 10.2
41 kluver-bucy syndrome 10.2
42 gingivitis 10.2
43 retinitis 10.2
44 hyperglycemia 10.2
45 ovarian cyst 10.2
46 epulis 10.2
47 amyloidosis 10.2
48 g6pc3 deficiency 10.2
49 ornithinemia 10.2
50 cyclic neutropenia 10.1

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ib:



Diseases related to Glycogen Storage Disease Ib

Symptoms & Phenotypes for Glycogen Storage Disease Ib

Human phenotypes related to Glycogen Storage Disease Ib:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hepatomegaly 31 HP:0002240
3 short stature 31 HP:0004322
4 proteinuria 31 HP:0000093
5 delayed puberty 31 HP:0000823
6 hypoglycemia 31 HP:0001943
7 hyperuricemia 31 HP:0002149
8 osteoporosis 31 HP:0000939
9 elevated hepatic transaminase 31 HP:0002910
10 hyperlipidemia 31 HP:0003077
11 nephrolithiasis 31 HP:0000787
12 neutropenia 31 HP:0001875
13 gout 31 HP:0001997
14 enlarged kidney 31 HP:0000105
15 lactic acidosis 31 HP:0003128
16 protuberant abdomen 31 HP:0001538
17 xanthomatosis 31 HP:0000991
18 xanthelasma 31 HP:0001114
19 pancreatitis 31 HP:0001733
20 oral ulcer 31 HP:0000155
21 hepatocellular carcinoma 31 HP:0001402
22 recurrent bacterial infections 31 HP:0002718
23 focal segmental glomerulosclerosis 31 HP:0000097
24 decreased glomerular filtration rate 31 HP:0012213
25 lipemia retinalis 31 HP:0000660
26 doll-like facies 31 HP:0000295

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Growth Height:
short stature

Growth Other:
delayed puberty

Hematology:
neutropenia
abnormal leukocyte function

Abdomen Pancreas:
pancreatitis

Head And Neck Eyes:
lipemia retinalis

Head And Neck Face:
'doll-like' facies

Abdomen Gastrointestinal:
chronic inflammatory bowel disease (ibd)
intestinal mucosal ulceration

Abdomen Liver:
hepatomegaly
hepatocellular carcinoma
liveradenomas

Laboratory Abnormalities:
proteinuria
hypoglycemia
hyperuricemia
hyperlipidemia
lactic acidosis
more
Skeletal:
osteoporosis
gouty arthritis

Abdomen External Features:
protuberant abdomen

Genitourinary Kidneys:
focal segmental glomerulosclerosis
renal stones
reduced creatinine clearance
renal enlargement

Head And Neck Mouth:
oral ulcers

Skin Nails Hair Skin:
xanthoma

Clinical features from OMIM®:

232220 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glycogen Storage Disease Ib

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Ib

Genetic Tests for Glycogen Storage Disease Ib

Genetic tests related to Glycogen Storage Disease Ib:

# Genetic test Affiliating Genes
1 Glucose-6-Phosphate Transport Defect 29 SLC37A4

Anatomical Context for Glycogen Storage Disease Ib

MalaCards organs/tissues related to Glycogen Storage Disease Ib:

40
Liver, Neutrophil, Kidney, Bone Marrow, Bone, Thyroid

Publications for Glycogen Storage Disease Ib

Articles related to Glycogen Storage Disease Ib:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Glycogen storage disease type Ib without neutropenia. 6 57
10931421 2000
2
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 57 6
9675154 1998
3
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 57 6
9428641 1997
4
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy. 61 6
29119402 2018
5
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. 6 61
28224773 2017
6
Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity. 57 61
2785037 1989
7
Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib. 61 57
3163346 1988
8
Short communication. Glycogenosis Ib: neutrophil microbicidal defects due to impaired hexose monophosphate shunt. 57 61
6328404 1984
9
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. 57
32294159 2020
10
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib. 57
32838757 2020
11
Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib. 6
31617422 2019
12
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. 6
31508908 2019
13
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. 57
30626647 2019
14
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. 6
29581464 2018
15
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. 6
28685844 2018
16
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. 6
26913919 2016
17
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. 6
27066451 2016
18
Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step. 6
25982172 2015
19
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 6
24565827 2014
20
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. 6
24646511 2014
21
The SLC37 family of sugar-phosphate/phosphate exchangers. 6
24745989 2014
22
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib. 6
24385852 2013
23
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 6
22899091 2013
24
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 6
21659346 2011
25
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]. 6
21575371 2011
26
Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. 6
20386986 2010
27
Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation. 6
19454374 2009
28
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib. 6
18835800 2008
29
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? 6
18437526 2008
30
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. 6
18996862 2008
31
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. 6
18337460 2008
32
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker. 6
17994282 2007
33
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. 6
17307551 2007
34
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 6
15906092 2005
35
Immunodetection of the expression of microsomal proteins encoded by the glucose 6-phosphate transporter gene. 6
15757503 2005
36
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. 6
15953877 2005
37
Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib. 6
15260472 2004
38
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. 6
15059622 2004
39
Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. 6
15669677 2004
40
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). 57
12576310 2003
41
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. 6
12444104 2002
42
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. 6
12409273 2002
43
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 6
12373566 2002
44
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 6
11949931 2002
45
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. 6
10940311 2000
46
Mutation analysis in glycogen storage disease type 1 non-a. 6
11071391 2000
47
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. 6
10923042 2000
48
A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. 6
10874322 2000
49
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. 6
10518030 1999
50
Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. 6
10482875 1999

Variations for Glycogen Storage Disease Ib

ClinVar genetic disease variations for Glycogen Storage Disease Ib:

6 (show top 50) (show all 510)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC37A4 SLC37A4, 4-BP DEL, 2-BP INS, NT1094 Indel Pathogenic 6924 GRCh37:
GRCh38:
2 SLC37A4 SLC37A4, 170-BP DEL, NT148 Deletion Pathogenic 6925 GRCh37:
GRCh38:
3 SLC37A4 SLC37A4, 12-BP INS, NT1103 Insertion Pathogenic 6929 GRCh37:
GRCh38:
4 SLC37A4 NM_001164277.1(SLC37A4):c.1016G>A (p.Gly339Asp) SNV Pathogenic 6935 rs121908980 GRCh37: 11:118896008-118896008
GRCh38: 11:119025298-119025298
5 SLC37A4 SLC37A4, 794G-A SNV Pathogenic 6936 GRCh37:
GRCh38:
6 SLC37A4 SLC37A4, IVS7, G-T, +1 SNV Pathogenic 6931 GRCh37:
GRCh38:
7 SLC37A4 SLC37A4, IVS1, G-A, +1 SNV Pathogenic 6932 GRCh37:
GRCh38:
8 SLC37A4 NM_001164277.1(SLC37A4):c.82C>T (p.Arg28Cys) SNV Pathogenic 68291 rs193302882 GRCh37: 11:118899998-118899998
GRCh38: 11:119029288-119029288
9 SLC37A4 NM_001164277.1(SLC37A4):c.345dup (p.Leu116fs) Duplication Pathogenic 529223 rs782604758 GRCh37: 11:118898939-118898940
GRCh38: 11:119028229-119028230
10 SLC37A4 NM_001164277.1(SLC37A4):c.1123+1G>C SNV Pathogenic 583102 rs782630676 GRCh37: 11:118895900-118895900
GRCh38: 11:119025190-119025190
11 SLC37A4 NM_001164277.1(SLC37A4):c.170C>A (p.Ser57Ter) SNV Pathogenic 654273 rs374848317 GRCh37: 11:118899115-118899115
GRCh38: 11:119028405-119028405
12 SLC37A4 NC_000011.10:g.(?_119028174)_(119029389_?)del Deletion Pathogenic 666221 GRCh37: 11:118898884-118900099
GRCh38: 11:119028174-119029389
13 SLC37A4 NM_001467.6(SLC37A4):c.460del (p.Ile154fs) Deletion Pathogenic 662747 rs769726248 GRCh37: 11:118898504-118898504
GRCh38: 11:119027794-119027794
14 SLC37A4 NM_001164277.1(SLC37A4):c.796_797del (p.Met266fs) Deletion Pathogenic 648054 rs1592111172 GRCh37: 11:118897386-118897387
GRCh38: 11:119026676-119026677
15 SLC37A4 NC_000011.10:g.(?_119024900)_(119029379_?)del Deletion Pathogenic 832011 GRCh37: 11:118895610-118900089
GRCh38:
16 SLC37A4 NM_001164277.1(SLC37A4):c.675C>A (p.Tyr225Ter) SNV Pathogenic 841551 GRCh37: 11:118897756-118897756
GRCh38: 11:119027046-119027046
17 SLC37A4 NM_001164277.1(SLC37A4):c.927del (p.Gly310fs) Deletion Pathogenic 846755 GRCh37: 11:118896734-118896734
GRCh38: 11:119026024-119026024
18 SLC37A4 NM_001164277.1(SLC37A4):c.59dup (p.Tyr21fs) Duplication Pathogenic 835295 GRCh37: 11:118900020-118900021
GRCh38: 11:119029310-119029311
19 SLC37A4 NM_001164277.1(SLC37A4):c.495G>A (p.Trp165Ter) SNV Pathogenic 861962 GRCh37: 11:118898469-118898469
GRCh38: 11:119027759-119027759
20 SLC37A4 NM_001164277.1(SLC37A4):c.529_533del Deletion Pathogenic 953966 GRCh37:
GRCh38:
21 SLC37A4 NM_001164277.1(SLC37A4):c.958del (p.Arg319_Val320insTer) Deletion Pathogenic 963100 GRCh37: 11:118896703-118896703
GRCh38: 11:119025993-119025993
22 SLC37A4 NM_001164277.1(SLC37A4):c.929del (p.Gly310fs) Deletion Pathogenic 971803 GRCh37: 11:118896732-118896732
GRCh38: 11:119026022-119026022
23 SLC37A4 NM_001467.6(SLC37A4):c.985+1G>A SNV Pathogenic 992984 GRCh37: 11:118896676-118896676
GRCh38: 11:119025966-119025966
24 SLC37A4 NM_001164277.1(SLC37A4):c.110C>A (p.Ser37Ter) SNV Pathogenic 488601 rs1444468055 GRCh37: 11:118899970-118899970
GRCh38: 11:119029260-119029260
25 SLC37A4 NM_001164277.1(SLC37A4):c.217C>T (p.Gln73Ter) SNV Pathogenic 917662 GRCh37: 11:118899068-118899068
GRCh38: 11:119028358-119028358
26 SLC37A4 NM_001164277.1(SLC37A4):c.1179G>A (p.Trp393Ter) SNV Pathogenic 928687 GRCh37: 11:118895731-118895731
GRCh38: 11:119025021-119025021
27 SLC37A4 NM_001164277.1(SLC37A4):c.446G>A (p.Gly149Glu) SNV Pathogenic 68280 rs193302892 GRCh37: 11:118898518-118898518
GRCh38: 11:119027808-119027808
28 SLC37A4 NM_001467.6(SLC37A4):c.148+1G>T SNV Pathogenic 981113 GRCh37: 11:118899931-118899931
GRCh38: 11:119029221-119029221
29 SLC37A4 NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) SNV Pathogenic 68290 rs193302889 GRCh37: 11:118899999-118899999
GRCh38: 11:119029289-119029289
30 SLC37A4 NM_001164278.2(SLC37A4):c.169_175del (p.Ser57fs) Deletion Pathogenic 651195 rs782501672 GRCh37: 11:118899110-118899116
GRCh38: 11:119028400-119028406
31 SLC37A4 NM_001164278.2(SLC37A4):c.936dup (p.Val313fs) Duplication Pathogenic 651791 rs782172072 GRCh37: 11:118896724-118896725
GRCh38: 11:119026014-119026015
32 SLC37A4 NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) SNV Pathogenic 6922 rs121908975 GRCh37: 11:118895961-118895961
GRCh38: 11:119025251-119025251
33 SLC37A4 NM_001164277.2(SLC37A4):c.945_964del Deletion Pathogenic 997959 GRCh37: 11:118896697-118896716
GRCh38: 11:119025987-119026006
34 SLC37A4 NM_001467.6(SLC37A4):c.1015G>T (p.Gly339Cys) SNV Pathogenic 6921 rs80356490 GRCh37: 11:118896009-118896009
GRCh38: 11:119025299-119025299
35 SLC37A4 NM_001467.6(SLC37A4):c.352T>C (p.Trp118Arg) SNV Pathogenic 6923 rs80356489 GRCh37: 11:118898933-118898933
GRCh38: 11:119028223-119028223
36 SLC37A4 NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs) Deletion Pathogenic 6926 rs80356491 GRCh37: 11:118895981-118895982
GRCh38: 11:119025271-119025272
37 SLC37A4 NM_001164277.1(SLC37A4):c.381+1G>T SNV Pathogenic 656028 rs786204637 GRCh37: 11:118898903-118898903
GRCh38: 11:119028193-119028193
38 SLC37A4 NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) SNV Pathogenic/Likely pathogenic 6933 rs121908978 GRCh37: 11:118899997-118899997
GRCh38: 11:119029287-119029287
39 SLC37A4 NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) SNV Pathogenic/Likely pathogenic 188762 rs781784543 GRCh37: 11:118897689-118897689
GRCh38: 11:119026979-119026979
40 SLC37A4 NM_001164277.1(SLC37A4):c.359dup (p.Cys121fs) Duplication Pathogenic/Likely pathogenic 633417 rs1182102272 GRCh37: 11:118898925-118898926
GRCh38: 11:119028215-119028216
41 SLC37A4 NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) SNV Pathogenic/Likely pathogenic 68285 rs193302888 GRCh37: 11:118898391-118898391
GRCh38: 11:119027681-119027681
42 SLC37A4 NM_001164277.1(SLC37A4):c.344_345dup (p.Leu116fs) Duplication Pathogenic/Likely pathogenic 550962 rs782604758 GRCh37: 11:118898939-118898940
GRCh38: 11:119028229-119028230
43 SLC37A4 NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) SNV Pathogenic/Likely pathogenic 68286 rs193302881 GRCh37: 11:118900021-118900021
GRCh38: 11:119029311-119029311
44 SLC37A4 NM_001164277.1(SLC37A4):c.1A>G (p.Met1Val) SNV Pathogenic/Likely pathogenic 189162 rs786204740 GRCh37: 11:118900079-118900079
GRCh38: 11:119029369-119029369
45 SLC37A4 NM_001164277.1(SLC37A4):c.74_77del (p.Tyr25fs) Deletion Pathogenic/Likely pathogenic 557015 rs1447366650 GRCh37: 11:118900003-118900006
GRCh38: 11:119029293-119029296
46 SLC37A4 NM_001467.6(SLC37A4):c.276dup (p.Phe93fs) Duplication Likely pathogenic 557818 rs1555191573 GRCh37: 11:118899008-118899009
GRCh38: 11:119028298-119028299
47 SLC37A4 NM_001467.6(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs) Insertion Likely pathogenic 556140 rs1555191580 GRCh37: 11:118899015-118899016
GRCh38: 11:119028305-119028306
48 SLC37A4 NM_001467.6(SLC37A4):c.986-3_989del Deletion Likely pathogenic 556157 rs1555190559 GRCh37: 11:118896036-118896042
GRCh38: 11:119025326-119025332
49 SLC37A4 NM_001467.6(SLC37A4):c.805del (p.Leu269fs) Deletion Likely pathogenic 556758 rs1555190992 GRCh37: 11:118897378-118897378
GRCh38: 11:119026668-119026668
50 SLC37A4 NM_001164277.1(SLC37A4):c.1124-1G>A SNV Likely pathogenic 552957 rs782202675 GRCh37: 11:118895787-118895787
GRCh38: 11:119025077-119025077

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ib:

72 (show all 30)
# Symbol AA change Variation ID SNP ID
1 SLC37A4 p.Gly149Glu VAR_003184 rs193302892
2 SLC37A4 p.Gly339Cys VAR_003185 rs80356490
3 SLC37A4 p.Trp118Arg VAR_007850 rs80356489
4 SLC37A4 p.Arg28His VAR_016840 rs121908978
5 SLC37A4 p.Gly20Asp VAR_025581 rs193302881
6 SLC37A4 p.Tyr24His VAR_025582 rs193302887
7 SLC37A4 p.Asn27Lys VAR_025583 rs193302889
8 SLC37A4 p.Arg28Cys VAR_025584 rs193302882
9 SLC37A4 p.Gly50Arg VAR_025585 rs193302894
10 SLC37A4 p.Ser54Arg VAR_025586 rs193302898
11 SLC37A4 p.Ser55Arg VAR_025587 rs193302884
12 SLC37A4 p.Gly68Arg VAR_025588 rs193302885
13 SLC37A4 p.Leu85Pro VAR_025589 rs193302899
14 SLC37A4 p.Gly88Asp VAR_025590 rs193302886
15 SLC37A4 p.Gly150Arg VAR_025592 rs193302883
16 SLC37A4 p.Pro153Leu VAR_025593 rs193302890
17 SLC37A4 p.Cys176Arg VAR_025594 rs193302895
18 SLC37A4 p.Cys183Arg VAR_025595 rs193302893
19 SLC37A4 p.Leu229Pro VAR_025597 rs193302902
20 SLC37A4 p.Ile278Asn VAR_025598 rs193302900
21 SLC37A4 p.Arg300His VAR_025599 rs193302903
22 SLC37A4 p.His301Pro VAR_025600 rs193302891
23 SLC37A4 p.Gly339Asp VAR_025601 rs121908980
24 SLC37A4 p.Ala367Thr VAR_025602 rs80356492
25 SLC37A4 p.Ala373Asp VAR_025603 rs193302901
26 SLC37A4 p.Pro191Leu VAR_032113 rs193302888
27 SLC37A4 p.Gly50Glu VAR_066394 rs193302877
28 SLC37A4 p.Ala148Val VAR_066395 rs193302879
29 SLC37A4 p.Trp246Arg VAR_066396 rs193302878
30 SLC37A4 p.Arg300Cys VAR_066397 rs193302880

Expression for Glycogen Storage Disease Ib

Search GEO for disease gene expression data for Glycogen Storage Disease Ib.

Pathways for Glycogen Storage Disease Ib

GO Terms for Glycogen Storage Disease Ib

Sources for Glycogen Storage Disease Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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