MCID: GLY016
MIFTS: 35

Glycogen Storage Disease Ib

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

Aliases & Classifications for Glycogen Storage Disease Ib

MalaCards integrated aliases for Glycogen Storage Disease Ib:

Name: Glycogen Storage Disease Ib 57 75 13
Glucose-6-Phosphate Transport Defect 57 53 75 29 6 40 73
Gsd1b 57 53 75
Glycogen Storage Disease Type 1b 76 53
Gsd Ib 57 75
Glycogen Storage Disease 1b 75
Gsd-Ib 75

Characteristics:

OMIM:

57
Miscellaneous:
recurrent bacterial infections

Inheritance:
autosomal recessive


HPO:

32
glycogen storage disease ib:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Ib

NIH Rare Diseases : 53 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. An important gene associated with Glycogen Storage Disease Ib is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include kidney, liver and neutrophil, and related phenotypes are hypertension and hepatomegaly

UniProtKB/Swiss-Prot : 75 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 : 76 Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen... more...

Description from OMIM: 232220

Related Diseases for Glycogen Storage Disease Ib

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Growth Height:
short stature

Growth Other:
delayed puberty

Abdomen Pancreas:
pancreatitis

Abdomen External Features:
protuberant abdomen

Head And Neck Mouth:
oral ulcers

Head And Neck Eyes:
lipemia retinalis

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

Abdomen Liver:
hepatomegaly
hepatocellular carcinoma
liveradenomas

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

Hematology:
neutropenia
abnormal leukocyte function

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

Head And Neck Face:
'doll-like' facies

Skin Nails Hair Skin:
xanthoma


Clinical features from OMIM:

232220

Human phenotypes related to Glycogen Storage Disease Ib:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hepatomegaly 32 HP:0002240
3 short stature 32 HP:0004322
4 proteinuria 32 HP:0000093
5 delayed puberty 32 HP:0000823
6 osteoporosis 32 HP:0000939
7 hypoglycemia 32 HP:0001943
8 elevated hepatic transaminases 32 HP:0002910
9 pancreatitis 32 HP:0001733
10 lactic acidosis 32 HP:0003128
11 hyperlipidemia 32 HP:0003077
12 nephrolithiasis 32 HP:0000787
13 neutropenia 32 HP:0001875
14 gout 32 HP:0001997
15 enlarged kidney 32 HP:0000105
16 recurrent bacterial infections 32 HP:0002718
17 xanthomatosis 32 HP:0000991
18 xanthelasma 32 HP:0001114
19 oral ulcer 32 HP:0000155
20 hepatocellular carcinoma 32 HP:0001402
21 protuberant abdomen 32 HP:0001538
22 focal segmental glomerulosclerosis 32 HP:0000097
23 decreased glomerular filtration rate 32 HP:0012213
24 lipemia retinalis 32 HP:0000660
25 doll-like facies 32 HP:0000295

Drugs & Therapeutics for Glycogen Storage Disease Ib

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832

Search 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:

41
Kidney, Liver, Neutrophil

Publications for Glycogen Storage Disease Ib

Articles related to Glycogen Storage Disease Ib:

(show all 17)
# Title Authors Year
1
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association orA Iatrogenic Complication of Therapy. ( 29119402 )
2017
2
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. ( 28224773 )
2017
3
Liver cirrhosis in glycogen storage disease Ib. ( 23357201 )
2013
4
Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function. ( 20830779 )
2010
5
3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib. ( 14707520 )
2003
6
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs. ( 14971792 )
2003
7
Improved growth with growth hormone therapy in a child with glycogen storage disease Ib. ( 12948077 )
2003
8
Renal carcinoma in a patient with glycogen storage disease Ib receiving long-term granulocyte colony-stimulating factor therapy. ( 10779042 )
2000
9
Crohn's-like colitis in glycogen storage disease Ib: a case report. ( 8975948 )
1996
10
Colony-stimulating factors for neutropenia in glycogen storage disease Ib. ( 1706047 )
1991
11
Neutrophil dysfunction in glycogen storage disease Ib: association with Crohn's-like colitis. ( 1985051 )
1991
12
Hexose uptake and transport in polymorphonuclear leukocytes from patients with glycogen storage disease Ib. ( 2377393 )
1990
13
Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity. ( 2785037 )
1989
14
Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib. ( 3163346 )
1988
15
Impaired glucose transport in polymorphonuclear leukocytes in glycogen storage disease Ib. ( 2828761 )
1987
16
Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib. ( 6578930 )
1983
17
Pathogenesis of glycogen storage disease IB. ( 6937638 )
1981

Variations for Glycogen Storage Disease Ib

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

75 (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

ClinVar genetic disease variations for Glycogen Storage Disease Ib:

6
(show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC37A4 NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys) single nucleotide variant Pathogenic rs80356490 GRCh37 Chromosome 11, 118896009: 118896009
2 SLC37A4 NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys) single nucleotide variant Pathogenic rs80356490 GRCh38 Chromosome 11, 119025299: 119025299
3 SLC37A4 NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs121908975 GRCh37 Chromosome 11, 118895961: 118895961
4 SLC37A4 NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs121908975 GRCh38 Chromosome 11, 119025251: 119025251
5 SLC37A4 NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg) single nucleotide variant Pathogenic rs80356489 GRCh37 Chromosome 11, 118898933: 118898933
6 SLC37A4 NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg) single nucleotide variant Pathogenic rs80356489 GRCh38 Chromosome 11, 119028223: 119028223
7 SLC37A4 SLC37A4, 4-BP DEL, 2-BP INS, NT1094 indel Pathogenic
8 SLC37A4 SLC37A4, 170-BP DEL, NT148 deletion Pathogenic
9 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
10 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh38 Chromosome 11, 119025271: 119025272
11 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Likely pathogenic rs121908976 GRCh37 Chromosome 11, 118898998: 118898998
12 SLC37A4 NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter) single nucleotide variant Likely pathogenic rs121908976 GRCh38 Chromosome 11, 119028288: 119028288
13 SLC37A4 SLC37A4, 12-BP INS, NT1103 insertion Pathogenic
14 SLC37A4 NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del) deletion Pathogenic rs121908977 GRCh37 Chromosome 11, 118897726: 118897728
15 SLC37A4 NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del) deletion Pathogenic rs121908977 GRCh38 Chromosome 11, 119027016: 119027018
16 SLC37A4 SLC37A4, IVS7, G-T, +1 single nucleotide variant Pathogenic
17 SLC37A4 SLC37A4, IVS1, G-A, +1 single nucleotide variant Pathogenic
18 SLC37A4 NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121908978 GRCh37 Chromosome 11, 118899997: 118899997
19 SLC37A4 NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121908978 GRCh38 Chromosome 11, 119029287: 119029287
20 SLC37A4 NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs121908979 GRCh37 Chromosome 11, 118895667: 118895667
21 SLC37A4 NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs121908979 GRCh38 Chromosome 11, 119024957: 119024957
22 SLC37A4 NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs121908980 GRCh37 Chromosome 11, 118896008: 118896008
23 SLC37A4 NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs121908980 GRCh38 Chromosome 11, 119025298: 119025298
24 SLC37A4 SLC37A4, 794G-A single nucleotide variant Pathogenic
25 SLC37A4 NM_001164277.1(SLC37A4): c.572C> T (p.Pro191Leu) single nucleotide variant Likely pathogenic rs193302888 GRCh37 Chromosome 11, 118898391: 118898391
26 SLC37A4 NM_001164277.1(SLC37A4): c.572C> T (p.Pro191Leu) single nucleotide variant Likely pathogenic rs193302888 GRCh38 Chromosome 11, 119027681: 119027681
27 SLC37A4 NM_001164277.1(SLC37A4): c.70T> C (p.Tyr24His) single nucleotide variant Likely pathogenic rs193302887 GRCh37 Chromosome 11, 118900010: 118900010
28 SLC37A4 NM_001164277.1(SLC37A4): c.70T> C (p.Tyr24His) single nucleotide variant Likely pathogenic rs193302887 GRCh38 Chromosome 11, 119029300: 119029300
29 SLC37A4 NM_001164277.1(SLC37A4): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs193302882 GRCh37 Chromosome 11, 118899998: 118899998
30 SLC37A4 NM_001164277.1(SLC37A4): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs193302882 GRCh38 Chromosome 11, 119029288: 119029288
31 SLC37A4 NM_001164277.1(SLC37A4): c.833T> A (p.Ile278Asn) single nucleotide variant Likely pathogenic rs193302900 GRCh37 Chromosome 11, 118897350: 118897350
32 SLC37A4 NM_001164277.1(SLC37A4): c.833T> A (p.Ile278Asn) single nucleotide variant Likely pathogenic rs193302900 GRCh38 Chromosome 11, 119026640: 119026640
33 SLC37A4 NM_001164277.1(SLC37A4): c.923_934dupTGGCTGGCATGA (p.Met311_Thr312insMetAlaGlyMet) duplication Likely pathogenic rs786204477 GRCh37 Chromosome 11, 118896727: 118896738
34 SLC37A4 NM_001164277.1(SLC37A4): c.923_934dupTGGCTGGCATGA (p.Met311_Thr312insMetAlaGlyMet) duplication Likely pathogenic rs786204477 GRCh38 Chromosome 11, 119026017: 119026028
35 SLC37A4 NM_001164277.1(SLC37A4): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781784543 GRCh38 Chromosome 11, 119026979: 119026979
36 SLC37A4 NM_001164277.1(SLC37A4): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781784543 GRCh37 Chromosome 11, 118897689: 118897689
37 SLC37A4 NM_001164277.1(SLC37A4): c.652C> T (p.Gln218Ter) single nucleotide variant Likely pathogenic rs551439289 GRCh38 Chromosome 11, 119027069: 119027069
38 SLC37A4 NM_001164277.1(SLC37A4): c.652C> T (p.Gln218Ter) single nucleotide variant Likely pathogenic rs551439289 GRCh37 Chromosome 11, 118897779: 118897779
39 SLC37A4 NM_001164277.1(SLC37A4): c.381+1G> A single nucleotide variant Likely pathogenic rs786204637 GRCh38 Chromosome 11, 119028193: 119028193
40 SLC37A4 NM_001164277.1(SLC37A4): c.381+1G> A single nucleotide variant Likely pathogenic rs786204637 GRCh37 Chromosome 11, 118898903: 118898903
41 SLC37A4 NM_001164277.1(SLC37A4): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs786204740 GRCh38 Chromosome 11, 119029369: 119029369
42 SLC37A4 NM_001164277.1(SLC37A4): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs786204740 GRCh37 Chromosome 11, 118900079: 118900079
43 SLC37A4 NM_001164277.1(SLC37A4): c.1067G> C (p.Ser356Thr) single nucleotide variant Benign/Likely benign rs547488738 GRCh38 Chromosome 11, 119025247: 119025247
44 SLC37A4 NM_001164277.1(SLC37A4): c.1067G> C (p.Ser356Thr) single nucleotide variant Benign/Likely benign rs547488738 GRCh37 Chromosome 11, 118895957: 118895957
45 SLC37A4 NM_001164277.1(SLC37A4): c.497G> A (p.Arg166His) single nucleotide variant Conflicting interpretations of pathogenicity rs186476316 GRCh38 Chromosome 11, 119027757: 119027757
46 SLC37A4 NM_001164277.1(SLC37A4): c.497G> A (p.Arg166His) single nucleotide variant Conflicting interpretations of pathogenicity rs186476316 GRCh37 Chromosome 11, 118898467: 118898467
47 SLC37A4 NM_001164277.1(SLC37A4): c.467C> T (p.Ala156Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201036248 GRCh38 Chromosome 11, 119027787: 119027787
48 SLC37A4 NM_001164277.1(SLC37A4): c.467C> T (p.Ala156Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201036248 GRCh37 Chromosome 11, 118898497: 118898497
49 SLC37A4 NM_001164277.1(SLC37A4): c.784+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs369358436 GRCh37 Chromosome 11, 118897641: 118897641
50 SLC37A4 NM_001164277.1(SLC37A4): c.784+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs369358436 GRCh38 Chromosome 11, 119026931: 119026931

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

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