Glycogen Storage Disease Xv disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GSD15 MCID: GLY009 MIFTS: 38	Glycogen Storage Disease Xv (GSD15) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Glycogen Storage Disease Xv

MalaCards integrated aliases for Glycogen Storage Disease Xv:

Name: Glycogen Storage Disease Xv ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Glycogen Storage Disease Type Xv ¹² ⁵⁸ ³⁶

Glycogenin Deficiency ⁵⁷ ⁷²

Gyg1 Deficiency ⁵⁷ ⁷²

Gsd Xv ⁵⁷ ⁷²

Gsd15 ⁵⁷ ⁷²

Glycogen Storage Disease with Severe Cardiomyopathy Due to Glycogenin Deficiency ⁵⁸

Glycogenosis with Severe Cardiomyopathy Due to Glycogenin Deficiency ⁵⁸

Gsd with Severe Cardiomyopathy Due to Glycogenin Deficiency ⁵⁸

Storage Disease, Glycogen, Type Xv ³⁹

Glycogen Storage Disease Type 15 ⁵⁸

Glycogen Storage Disease 15 ⁷²

Glycogenosis Type 15 ⁵⁸

Glycogenosis Type Xv ⁵⁸

Gsd Type 15 ⁵⁸

Gsd Type Xv ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

HPO:

³¹

glycogen storage disease xv:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Cardiovascular diseases Muscle diseases Liver diseases Nephrological diseases Blood diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁸

Rare neurological diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0050579

OMIM® ⁵⁷ 613507

KEGG ³⁶ H01955

MeSH ⁴⁴ D006008

ICD10 via Orphanet ³³ E74.0

Orphanet ⁵⁸ ORPHA263297

MedGen ⁴¹ C3150754

UMLS ⁷⁰ C3150754

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Summaries for Glycogen Storage Disease Xv

UniProtKB/Swiss-Prot : ⁷² Glycogen storage disease 15: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.

MalaCards based summary : Glycogen Storage Disease Xv, also known as glycogen storage disease type xv, is related to atrial standstill 1 and glycogen storage disease, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Xv is GYG1 (Glycogenin 1), and among its related pathways/superpathways are Starch and sucrose metabolism and Translation Factors. Affiliated tissues include skeletal muscle, and related phenotypes are decreased muscle mass and emg: myopathic abnormalities

Disease Ontology : ¹² A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has material basis in mutation in the GYG1 gene that encodes glycogenin-1.

KEGG : ³⁶ Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentation is muscle weakness and cardiomyopathy.

More information from OMIM: 613507

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Related Diseases for Glycogen Storage Disease Xv

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 Xv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	atrial standstill 1	10.2
2	glycogen storage disease	10.2
3	rare cardiomyopathy	10.2
4	polyglucosan body myopathy 2	10.0
5	myopathy	10.0
6	childhood ataxia with central nervous system hypomyelination / vanishing white matter	10.0	EIF2B4 EIF2B3
7	combined saposin deficiency	10.0	EIF2B4 EIF2B3
8	mehmo syndrome	10.0	EIF2B4 EIF2B3
9	leukoencephalopathy, hereditary diffuse, with spheroids	9.9	EIF2B4 EIF2B3
10	cerebral degeneration	9.8	EIF2B4 EIF2B3
11	leukoencephalopathy with vanishing white matter	9.7	EIF2B4 EIF2B3
12	leukodystrophy	9.6	NUBPL EIF2B4 EIF2B3

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

Sources

Symptoms & Phenotypes for Glycogen Storage Disease Xv

Human phenotypes related to Glycogen Storage Disease Xv:

⁵⁸ ³¹ (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	decreased muscle mass ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003199
2	emg: myopathic abnormalities ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003458
3	vertigo ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002321
4	cardiomyopathy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001638
5	right bundle branch block ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011712
6	exertional dyspnea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002875
7	abdominal wall muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009023
8	upper limb muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003484
9	ventricular tachycardia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004756
10	foot dorsiflexor weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009027
11	palpitations ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001962
12	shoulder girdle muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003547
13	ventricular hypertrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001714
14	ventricular fibrillation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001663
15	neck flexor weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003722
16	t-wave inversion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010872
17	ventricular septal hypertrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005144
18	st segment elevation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012251
19	decreased muscle glycogen content ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012270
20	cardiomyocyte hypertrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031319
21	increased mitochondrial number ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0040014
22	diabetes mellitus ⁵⁸		Excluded (0%)
23	hypothyroidism ⁵⁸		Excluded (0%)
24	muscle weakness ³¹			HP:0001324
25	abnormal levels of creatine kinase in blood ⁵⁸		Excluded (0%)
26	arrhythmia ⁵⁸		Frequent (79-30%)
27	ventricular arrhythmia ³¹			HP:0004308

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Muscle Soft Tissue:
muscle weakness
mitochondrial proliferation
glycogen depletion in skeletal muscle
marked predominance of slow-twitch, oxidative (type 1) muscle fibers

Cardiovascular Heart:
right bundle branch block
ventricular arrhythmias
hypertrophic cardiomyocytes
central vacuoles containing pas-positive material
cytoplasmic glycogen depletion

Clinical features from OMIM®:

613507 (Updated 05-Apr-2021)

UMLS symptoms related to Glycogen Storage Disease Xv:

muscle weakness

GenomeRNAi Phenotypes related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased NANOG protein expression	GR00184-A-3	9.4	EIF2B3 EIF2B4
2	Decreased NANOG protein expression	GR00184-A-6	9.4	EIF2B3 EIF2B4
3	Decreased NANOG protein expression	GR00184-A-8	9.4	EIF2B3 EIF2B4

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Drugs & Therapeutics for Glycogen Storage Disease Xv

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

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Genetic Tests for Glycogen Storage Disease Xv

Genetic tests related to Glycogen Storage Disease Xv:

#	Genetic test	Affiliating Genes
1	Glycogen Storage Disease Xv ²⁹	GYG1

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Anatomical Context for Glycogen Storage Disease Xv

MalaCards organs/tissues related to Glycogen Storage Disease Xv:

⁴⁰

Skeletal Muscle

Sources

Publications for Glycogen Storage Disease Xv

Articles related to Glycogen Storage Disease Xv:

#	Title	Authors	PMID	Year
1	Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. ⁵⁷ ⁶	Moslemi AR...Oldfors A	20357282	2010
2	Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. ⁶	Ben Yaou R...Petit FM	29264399	2017
3	Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. ⁶	Hedberg-Oldfors C...Oldfors A	27718144	2017
4	Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. ⁶	Akman HO...Marrosu G	26652229	2016
5	A new muscle glycogen storage disease associated with glycogenin-1 deficiency. ⁶	Malfatti E...Oldfors A	25272951	2014
6	Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation. ⁶	Nilsson J...Oldfors A	22198226	2012
7	Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency. ⁶¹	Hedberg-Oldfors C...Oldfors A	31791869	2019
8	Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis. ⁶¹	Chaikuad A...Yue WW	22160680	2011

Sources

Genes for Glycogen Storage Disease Xv

Genes related to Glycogen Storage Disease Xv (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GYG1	Glycogenin 1	Protein Coding	1726.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Summaries Variants (show sections)	20357282
2	EIF2B3	Eukaryotic Translation Initiation Factor 2B Subunit Gamma	Protein Coding	6.53	DISEASES inferred ¹⁵
3	EIF2B4	Eukaryotic Translation Initiation Factor 2B Subunit Delta	Protein Coding	6.46	DISEASES inferred ¹⁵
4	NUBPL	Nucleotide Binding Protein Like	Protein Coding	6.35	DISEASES inferred ¹⁵
5	GOSR2	Golgi SNAP Receptor Complex Member 2	Protein Coding	6.33	DISEASES inferred ¹⁵
6	ATP5F1E	ATP Synthase F1 Subunit Epsilon	Protein Coding	6.31	DISEASES inferred ¹⁵
7	KDM8	Lysine Demethylase 8	Protein Coding	6.31	DISEASES inferred ¹⁵

Sources

Variations for Glycogen Storage Disease Xv

ClinVar genetic disease variations for Glycogen Storage Disease Xv:

⁶ (show all 26)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GYG1	NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)	SNV	Pathogenic	850059		GRCh37: 3:148742050-148742050 GRCh38: 3:149024263-149024263
2	GYG1	NM_004130.4(GYG1):c.631del (p.Val211fs)	Deletion	Pathogenic	855451		GRCh37: 3:148741862-148741862 GRCh38: 3:149024075-149024075
3	GYG1	NM_004130.3(GYG1):c.154G>T (p.Glu52Ter)	SNV	Pathogenic	569450	rs1559834349	GRCh37: 3:148714099-148714099 GRCh38: 3:148996312-148996312
4	GYG1	NM_004130.3(GYG1):c.143+3G>C	SNV	Pathogenic	162661	rs370652040	GRCh37: 3:148712067-148712067 GRCh38: 3:148994280-148994280
5	GYG1	NM_004130.3(GYG1):c.143+3G>C	SNV	Pathogenic	162661	rs370652040	GRCh37: 3:148712067-148712067 GRCh38: 3:148994280-148994280
6	GYG1	NM_004130.3(GYG1):c.487del (p.Asp163fs)	Deletion	Pathogenic	162665	rs727502871	GRCh37: 3:148727065-148727065 GRCh38: 3:149009278-149009278
7	GYG1	NM_004130.4(GYG1):c.758_761dup (p.Thr255fs)	Duplication	Pathogenic	1028195		GRCh37: 3:148741988-148741989 GRCh38: 3:149024201-149024202
8	GYG1	NM_004130.3(GYG1):c.248C>T (p.Thr83Met)	SNV	Pathogenic	5954	rs267606858	GRCh37: 3:148714193-148714193 GRCh38: 3:148996406-148996406
9	GYG1	GYG1, 1-BP DEL, 487G	Deletion	Pathogenic	5953		GRCh37: GRCh38:
10	GYG1	NM_004130.3(GYG1):c.304G>C (p.Asp102His)	SNV	Pathogenic/Likely pathogenic	162663	rs143137713	GRCh37: 3:148714249-148714249 GRCh38: 3:148996462-148996462
11	GYG1	NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)	SNV	Uncertain significance	954247		GRCh37: 3:148744706-148744706 GRCh38: 3:149026919-149026919
12	GYG1	NM_001184721.1(GYG1):c.609-2498A>T	SNV	Uncertain significance	577858	rs1211466583	GRCh37: 3:148742049-148742049 GRCh38: 3:149024262-149024262
13	GYG1	NM_004130.3(GYG1):c.662A>C (p.Asn221Thr)	SNV	Uncertain significance	642738	rs1412348949	GRCh37: 3:148741893-148741893 GRCh38: 3:149024106-149024106
14	GYG1	NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)	SNV	Uncertain significance	1039050		GRCh37: 3:148744282-148744282 GRCh38: 3:149026495-149026495
15	GYG1	NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)	SNV	Uncertain significance	1045088		GRCh37: 3:148714151-148714151 GRCh38: 3:148996364-148996364
16	GYG1	NM_004130.4(GYG1):c.66G>A (p.Leu22=)	SNV	Uncertain significance	935412		GRCh37: 3:148711987-148711987 GRCh38: 3:148994200-148994200
17	GYG1	NM_004130.3(GYG1):c.883G>A (p.Asp295Asn)	SNV	Uncertain significance	649105	rs202085215	GRCh37: 3:148744550-148744550 GRCh38: 3:149026763-149026763
18	GYG1	NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)	SNV	Uncertain significance	969811		GRCh37: 3:148711989-148711989 GRCh38: 3:148994202-148994202
19	GYG1	NM_004130.3(GYG1):c.439A>G (p.Asn147Asp)	SNV	Uncertain significance	646200	rs140175164	GRCh37: 3:148714649-148714649 GRCh38: 3:148996862-148996862
20	GYG1	NM_004130.3(GYG1):c.866G>T (p.Gly289Val)	SNV	Uncertain significance	548588	rs1553733613	GRCh37: 3:148744276-148744276 GRCh38: 3:149026489-149026489
21	GYG1	NM_004130.3(GYG1):c.961C>T (p.Arg321Trp)	SNV	Uncertain significance	542120	rs138596591	GRCh37: 3:148744628-148744628 GRCh38: 3:149026841-149026841
22	GYG1	NM_004130.3(GYG1):c.98G>A (p.Arg33Lys)	SNV	Likely benign	542121	rs146101365	GRCh37: 3:148712019-148712019 GRCh38: 3:148994232-148994232
23	GYG1	NM_004130.3(GYG1):c.609G>A (p.Val203=)	SNV	Benign	385794	rs75445811	GRCh37: 3:148741840-148741840 GRCh38: 3:149024053-149024053
24	GYG1	NM_004130.3(GYG1):c.452A>T (p.His151Leu)	SNV	Benign	516905	rs35054019	GRCh37: 3:148714662-148714662 GRCh38: 3:148996875-148996875
25	GYG1	NM_004130.3(GYG1):c.159A>G (p.Thr53=)	SNV	Benign	380453	rs148619511	GRCh37: 3:148714104-148714104 GRCh38: 3:148996317-148996317
26	GYG1	NM_004130.3(GYG1):c.137C>G (p.Ser46Cys)	SNV	Benign	383918	rs142784073	GRCh37: 3:148712058-148712058 GRCh38: 3:148994271-148994271

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

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	GYG1	p.Thr83Met	VAR_063768	rs267606858

Sources

Expression for Glycogen Storage Disease Xv

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

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Pathways for Glycogen Storage Disease Xv

Pathways related to Glycogen Storage Disease Xv according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Starch and sucrose metabolism	hsa00500

Pathways related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Translation Factors ¹ Show member pathways Recycling of eIF2-GDP ⁶⁵	10.41	EIF2B4 EIF2B3

Sources

GO Terms for Glycogen Storage Disease Xv

Cellular components related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	eukaryotic translation initiation factor 2B complex	GO:0005851	8.62	EIF2B4 EIF2B3

Biological processes related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translational initiation	GO:0006413	9.32	EIF2B4 EIF2B3
2	response to glucose	GO:0009749	9.26	EIF2B4 EIF2B3
3	response to peptide hormone	GO:0043434	9.16	EIF2B4 EIF2B3
4	response to heat	GO:0009408	8.96	EIF2B4 EIF2B3
5	oligodendrocyte development	GO:0014003	8.62	EIF2B4 EIF2B3

Molecular functions related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translation initiation factor activity	GO:0003743	8.62	EIF2B4 EIF2B3

Sources

Sources for Glycogen Storage Disease Xv

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Glycogen Storage Disease Xv (GSD15)

Aliases & Classifications for Glycogen Storage Disease Xv

MalaCards integrated aliases for Glycogen Storage Disease Xv:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Glycogen Storage Disease Xv

Related Diseases for Glycogen Storage Disease Xv

Diseases in the Glycogen Storage Disease family:

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

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

Symptoms & Phenotypes for Glycogen Storage Disease Xv

Human phenotypes related to Glycogen Storage Disease Xv:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Glycogen Storage Disease Xv:

GenomeRNAi Phenotypes related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Glycogen Storage Disease Xv

Genetic Tests for Glycogen Storage Disease Xv

Genetic tests related to Glycogen Storage Disease Xv:

Anatomical Context for Glycogen Storage Disease Xv

MalaCards organs/tissues related to Glycogen Storage Disease Xv:

Publications for Glycogen Storage Disease Xv

Articles related to Glycogen Storage Disease Xv:

Genes for Glycogen Storage Disease Xv

Genes related to Glycogen Storage Disease Xv (1 elite genes):

Variations for Glycogen Storage Disease Xv

ClinVar genetic disease variations for Glycogen Storage Disease Xv:

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

Expression for Glycogen Storage Disease Xv

Pathways for Glycogen Storage Disease Xv

Pathways related to Glycogen Storage Disease Xv according to KEGG:

Pathways related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

GO Terms for Glycogen Storage Disease Xv

Cellular components related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

Biological processes related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

Molecular functions related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

Sources for Glycogen Storage Disease Xv