GSD4
MCID: GLY007
MIFTS: 53

Glycogen Storage Disease Iv (GSD4) malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease Iv

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NIH Rare Diseases:42 Glycogen storage disease type 4 (gsd 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. symptoms of gsd 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. in rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. gsd 4 is caused by mutations in the gbe1 gene and is inherited in an autosomal recessive manner. treatment typically focuses on the specific symptoms that are present in each individual. last updated: 12/23/2012

MalaCards based summary: Glycogen Storage Disease Iv, also known as glycogen storage disease type iv, is related to glycogen storage disease and andersen-tawil syndrome, and has symptoms including ascitis, hepatitis/icterus/cholestasis and hepatocellular liver disease/hepatic failure. An important gene associated with Glycogen Storage Disease Iv is GBE1 (glucan (1,4-alpha-), branching enzyme 1), and among its related pathways is Class I MHC mediated antigen processing and presentation. The compound arginine have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and heart, and related mouse phenotypes are cellular and respiratory system.

Genetics Home Reference:21 Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

Wikipedia:65 Glycogen storage disease type IV is a rare hereditary metabolic disorder. more...

Descriptions from OMIM:46 232500,263570,170390

GeneReviews summary for gsd4

Aliases & Classifications for Glycogen Storage Disease Iv

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Sources:
62UMLS, 8Disease Ontology, 9diseasecard, 19GeneReviews, 21Genetics Home Reference, 46OMIM, 10DISEASES, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 20GeneTests, 22GTR, 34MeSH, 57SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Glycogen Storage Disease Iv, Aliases & Descriptions:

Name: Glycogen Storage Disease Iv 8 9 19 21 46 10
Glycogen Storage Disease Type Iv 19 42 21 44 62
Glycogen Storage Disease Type 4 42 20 22 21 48
Glycogen Branching Enzyme Deficiency 19 42 21 62
Andersen Disease 19 42 21 48
Amylopectinosis 8 42 21 48
Andersen Syndrome 46 44 62
Gsd Iv 19 42 21
Branching-Transferase Deficiency Glycogenosis 8 62
Glycogenosis Type 4 48 62
Brancher Deficiency 42 21
Glycogenosis 4 42 21
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 48
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 48
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 48
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 48
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 48
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 48
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 48
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 48
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic and Myopathic Form 48
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 48
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 48
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 48
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 48
Gsd Due to Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form 48
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 48
Glycogenosis Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 48
Gsd Due to Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form 48
Glycogen Storage Disease Type 4, Childhood Combined Hepatic and Myopathic Form 48
Gsd Due to Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form 48
Gsd Due to Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form 48
Gsd Due to Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form 48
Gsd Due to Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form 48
Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 48
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form 48
Glycogenosis Type 4, Childhood Combined Hepatic and Myopathic Form 48
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form 48
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form 48
Gbe Deficiency, Childhood Combined Hepatic and Myopathic Form 48
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form 48
Glycogen Storage Disease Type 4, Progressive Hepatic Form 48
Gsd Type 4, Childhood Combined Hepatic and Myopathic Form 48
 
Glycogen Storage Disease Type 4, Adult Neuromuscular Form 48
Cirrhosis, Familial, with Deposition of Abnormal Glycogen 42
Glycogenosis Due to Glycogen Branching Enzyme Deficiency 48
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form 48
Gsdiv, Childhood Combined Hepatic and Myopathic Form 48
Gbe Deficiency, Fatal Perinatal Neuromuscular Form 48
Glycogenosis Type 4, Congenital Neuromuscular Form 48
Glycogenosis Type 4, Non Progressive Hepatic Form 48
Glycogenosis Type 4, Childhood Neuromuscular Form 48
Deficiency of 1,4-Alpha-Glucan Branching Enzyme 8
Gsd Due to Glycogen Branching Enzyme Deficiency 48
Gsd Type 4, Fatal Perinatal Neuromuscular Form 48
Glycogenosis Type 4, Adult Neuromuscular Form 48
Gbe Deficiency, Congenital Neuromuscular Form 48
Glycogenosis Type 4, Progressive Hepatic Form 48
Gbe Deficiency, Non Progressive Hepatic Form 48
Gbe Deficiency, Childhood Neuromuscular Form 48
Gsdiv, Fatal Perinatal Neuromuscular Form 48
Gsd Type 4, Congenital Neuromuscular Form 48
Gbe Deficiency, Adult Neuromuscular Form 48
Gsd Type 4, Non Progressive Hepatic Form 48
Gsd Type 4, Childhood Neuromuscular Form 48
Gbe Deficiency, Progressive Hepatic Form 48
Gsd Type 4, Progressive Hepatic Form 48
Gsd Type 4, Adult Neuromuscular Form 48
Gsdiv, Congenital Neuromuscular Form 48
Gsdiv, Non Progressive Hepatic Form 48
Gsdiv, Childhood Neuromuscular Form 48
Glycogen Storage Disease, Type Iv 8
Brancher Deficiency Glycogenosis 8
Gsdiv, Adult Neuromuscular Form 48
Gsdiv, Progressive Hepatic Form 48
Branching Enzyme Deficiency 21
Glycogen Storage Disease 62
Andersen Glycogenosis 21
Glycogenosis, Type Iv 21
Type Iv Glycogenosis 21
Andersen's Disease 21
Glycogenosis Iv 19
Gsd Type Iv 21
Gsd Type 4 48
Gsd 4 42
Gsd4 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
glycogen storage disease type 4:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:2750
MeSH34 D006011
NCIt39 C84737
ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C0017923, C1563715, C0017922

Related Diseases for Glycogen Storage Disease Iv

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Graphical network of diseases related to Glycogen Storage Disease Iv:



Diseases related to glycogen storage disease iv

Symptoms for Glycogen Storage Disease Iv

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Symptoms by clinical synopsis from OMIM:

170390

Clinical features from OMIM:

232500,263570,170390

Symptoms:

48 (show all 9)
  • ascitis
  • hepatitis/icterus/cholestasis
  • hepatocellular liver disease/hepatic failure
  • storage liver disease
  • movement disorder
  • hypotonia
  • metabolic anomalies
  • autosomal recessive inheritance
  • cardiomyopathy/hypertrophic/dilated

HPO human phenotypes related to Glycogen Storage Disease Iv:

(show all 68)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 hepatic failure hallmark (90%) HP:0001399
3 ascites hallmark (90%) HP:0001541
4 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
5 abnormality of movement hallmark (90%) HP:0100022
6 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
7 autosomal dominant inheritance HP:0000006
8 cleft palate HP:0000175
9 high palate HP:0000218
10 thin upper lip vermilion HP:0000219
11 microcephaly HP:0000252
12 malar flattening HP:0000272
13 hypertelorism HP:0000316
14 facial asymmetry HP:0000324
15 triangular face HP:0000325
16 hypoplasia of the maxilla HP:0000327
17 broad forehead HP:0000337
18 low-set ears HP:0000369
19 bulbous nose HP:0000414
20 blepharophimosis HP:0000581
21 oligodontia HP:0000677
22 delayed eruption of permanent teeth HP:0000696
23 syncope HP:0001279
24 specific learning disability HP:0001328
25 joint laxity HP:0001388
26 growth abnormality HP:0001507
27 toe syndactyly HP:0001770
28 short foot HP:0001773
29 clinodactyly of the 5th toe HP:0001864
30 palpitations HP:0001962
31 scoliosis HP:0002650
32 delayed skeletal maturation HP:0002750
33 slender long bone HP:0003100
34 scapular winging HP:0003691
35 short mandibular rami HP:0003778
36 antegonial notching of mandible HP:0003779
37 clinodactyly of the 5th finger HP:0004209
38 short palm HP:0004279
39 preauricular pit HP:0004467
40 bidirectional ventricular ectopy HP:0005147
41 prominent frontal sinuses HP:0005478
42 hypoplasia of dental enamel HP:0006297
43 persistence of primary teeth HP:0006335
44 periodic hypokalemic paresis HP:0008153
45 short phalanx of finger HP:0009803
46 short metacarpal HP:0010049
47 short metatarsal HP:0010743
48 short palpebral fissure HP:0012745
49 small hand HP:0200055
50 autosomal recessive inheritance HP:0000007
51 edema HP:0000969
52 muscular hypotonia HP:0001252
53 reduced tendon reflexes HP:0001315
54 muscle weakness HP:0001324
55 cirrhosis HP:0001394
56 hepatic failure HP:0001399
57 portal hypertension HP:0001409
58 hepatosplenomegaly HP:0001433
59 failure to thrive HP:0001508
60 ascites HP:0001541
61 decreased fetal movement HP:0001558
62 polyhydramnios HP:0001561
63 cardiomyopathy HP:0001638
64 hydrops fetalis HP:0001789
65 esophageal varix HP:0002040
66 arthrogryposis multiplex congenita HP:0002804
67 amyotrophy HP:0003202
68 tubulointerstitial fibrosis HP:0005576

Drugs & Therapeutics for Glycogen Storage Disease Iv

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Drug clinical trials:

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Search NIH Clinical Center for Glycogen Storage Disease Iv

Genetic Tests for Glycogen Storage Disease Iv

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Genetic tests related to Glycogen Storage Disease Iv:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Iv20 GBE1
2 Glycogen Storage Disease, Type Iv22

Anatomical Context for Glycogen Storage Disease Iv

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MalaCards organs/tissues related to Glycogen Storage Disease Iv:

32
Liver, Spleen, Heart, Kidney

Animal Models for Glycogen Storage Disease Iv or affiliated genes

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MGI Mouse Phenotypes related to Glycogen Storage Disease Iv:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.6FGFR3, RBCK1, GBE1
2MP:00053888.2FGFR3, KCNJ2, GBE1

Publications for Glycogen Storage Disease Iv

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Articles related to Glycogen Storage Disease Iv:

idTitleAuthorsYear
1
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. (21075835)
2011
2
Anesthetic management in a child with Glycogen Storage Disease IV. (20519014)
2010
3
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. (15366377)
2004
4
Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. (14970703)
2003
5
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD. (4313495)
1970

Variations for Glycogen Storage Disease Iv

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

64 (show all 17)
id Symbol AA change Variation ID SNP ID
1GBE1p.Leu224ProVAR_022429
2GBE1p.Phe257LeuVAR_022430
3GBE1p.Tyr329SerVAR_022431
4GBE1p.Arg515CysVAR_022432
5GBE1p.Arg524GlnVAR_022434
6GBE1p.His545ArgVAR_022435
7GBE1p.His628ArgVAR_022436
8KCNJ2p.Arg67TrpVAR_017851
9KCNJ2p.Asp71ValVAR_017852
10KCNJ2p.Pro186LeuVAR_017854
11KCNJ2p.Asn216HisVAR_017855
12KCNJ2p.Arg218TrpVAR_017856
13KCNJ2p.Gly300ValVAR_017857
14KCNJ2p.Val302MetVAR_017858
15KCNJ2p.Cys54PheVAR_065861
16KCNJ2p.Thr75ArgVAR_065862
17KCNJ2p.Thr305ProVAR_065864

Clinvar genetic disease variations for Glycogen Storage Disease Iv:

6 (show all 27)
id Gene Name Type Significance SNP ID Assembly Location
1GBE1NM_000158.3(GBE1): c.986A> C (p.Tyr329Ser)single nucleotide variantPathogenicrs80338671GRCh37Chr 3, 81691938: 81691938
2GBE1NM_000158.3(GBE1): c.671T> C (p.Leu224Pro)single nucleotide variantPathogenicrs137852886GRCh37Chr 3, 81698027: 81698027
3GBE1NM_000158.3(GBE1): c.1543C> T (p.Arg515Cys)single nucleotide variantPathogenicrs80338672GRCh37Chr 3, 81627151: 81627151
4GBE1NM_000158.3(GBE1): c.771T> A (p.Phe257Leu)single nucleotide variantPathogenicrs137852887GRCh37Chr 3, 81695554: 81695554
5GBE1NM_000158.3(GBE1): c.1570C> T (p.Arg524Ter)single nucleotide variantPathogenicrs137852888GRCh37Chr 3, 81627124: 81627124
6GBE1NM_000158.3(GBE1): c.1571G> A (p.Arg524Gln)single nucleotide variantPathogenicrs80338673GRCh37Chr 3, 81627123: 81627123
7GBE1NM_000158.3: c.993-?_1618+?deldeletionPathogenicGRCh37Chr 3, 81586246: 81691932
8GBE1NM_000158.3(GBE1): c.143+1G> Asingle nucleotide variantPathogenicrs397515343GRCh37Chr 3, 81810525: 81810525
9GBE1NM_000158.3(GBE1): c.1634A> G (p.His545Arg)single nucleotide variantPathogenicrs137852889GRCh37Chr 3, 81586231: 81586231
10GBE1NM_000158.3(GBE1): c.1774G> T (p.Glu592Ter)single nucleotide variantPathogenicrs137852890GRCh37Chr 3, 81586091: 81586091
11GBE1NM_000158.3(GBE1): c.1883A> G (p.His628Arg)single nucleotide variantPathogenicrs137852891GRCh37Chr 3, 81584397: 81584397
12GBE1NM_000158.3(GBE1): c.691+5G> Csingle nucleotide variantPathogenicrs397515344GRCh37Chr 3, 81698002: 81698002
13GBE1NM_000158.3(GBE1): c.1643G> A (p.Trp548Ter)single nucleotide variantPathogenicrs137852894GRCh37Chr 3, 81586222: 81586222
14KCNJ2NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs199473650GRCh37Chr 17, 68171341: 68171341
15KCNJ2NM_000891.2(KCNJ2): c.913A> C (p.Thr305Pro)single nucleotide variantPathogenicrs199473387GRCh37Chr 17, 68172093: 68172093
16c.[708G> C]+[784C> T]undetermined variantPathogenic
17c.[c.38dupA]+[1571G> A]duplicationPathogenic
18KCNJ2NM_000891.2(KCNJ2): c.212A> T (p.Asp71Val)single nucleotide variantPathogenicrs104894575GRCh37Chr 17, 68171392: 68171392
19KCNJ2NM_000891.2(KCNJ2): c.652C> T (p.Arg218Trp)single nucleotide variantPathogenicrs104894578GRCh37Chr 17, 68171832: 68171832
20KCNJ2NM_000891.2(KCNJ2): c.899G> T (p.Gly300Val)single nucleotide variantPathogenicrs104894579GRCh37Chr 17, 68172079: 68172079
21KCNJ2KCNJ2, 12-BP DEL, NT513deletionPathogenic
22KCNJ2KCNJ2, 6-BP DEL, NT1167deletionPathogenic
23KCNJ2NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp)single nucleotide variantPathogenicrs104894580GRCh37Chr 17, 68171379: 68171379
24KCNJ2NM_000891.2(KCNJ2): c.557C> T (p.Pro186Leu)single nucleotide variantPathogenicrs104894581GRCh37Chr 17, 68171737: 68171737
25KCNJ2NM_000891.2(KCNJ2): c.904G> A (p.Val302Met)single nucleotide variantPathogenicrs104894582GRCh37Chr 17, 68172084: 68172084
26KCNJ2NM_000891.2(KCNJ2): c.646A> C (p.Asn216His)single nucleotide variantPathogenicrs104894583GRCh37Chr 17, 68171826: 68171826
27KCNJ2NM_000891.2(KCNJ2): c.224C> G (p.Thr75Arg)single nucleotide variantPathogenicrs104894585GRCh37Chr 17, 68171404: 68171404

Expression for genes affiliated with Glycogen Storage Disease Iv

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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Iv

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Pathways for genes affiliated with Glycogen Storage Disease Iv

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Pathways related to Glycogen Storage Disease Iv according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR3, RBCK1

Compounds for genes affiliated with Glycogen Storage Disease Iv

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Sources:
44Novoseek
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Compounds related to Glycogen Storage Disease Iv according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine449.0FGFR3, KCNJ2

GO Terms for genes affiliated with Glycogen Storage Disease Iv

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Products for genes affiliated with Glycogen Storage Disease Iv

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  • Antibodies
  • Proteins
  • Lysates

Sources for Glycogen Storage Disease Iv

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet