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

GSD15 MCID: GLY009 MIFTS: 28	Glycogen Storage Disease Xv (GSD15) Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues 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 ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Glycogen Storage Disease Type Xv ¹² ⁵⁹ ³⁷

Glycogenin Deficiency ⁵⁷ ⁷⁵

Gyg1 Deficiency ⁵⁷ ⁷⁵

Gsd Xv ⁵⁷ ⁷⁵

Gsd15 ⁵⁷ ⁷⁵

Glycogen Storage Disease with Severe Cardiomyopathy Due to Glycogenin Deficiency ⁵⁹

Glycogenosis with Severe Cardiomyopathy Due to Glycogenin Deficiency ⁵⁹

Gsd with Severe Cardiomyopathy Due to Glycogenin Deficiency ⁵⁹

Storage Disease, Glycogen, Type Xv ⁴⁰

Glycogen Storage Disease Type 15 ⁵⁹

Glycogen Storage Disease 15 ⁷⁵

Glycogenosis Type 15 ⁵⁹

Glycogenosis Type Xv ⁵⁹

Gsd Type 15 ⁵⁹

Gsd Type Xv ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

glycogen storage disease xv:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 613507

Disease Ontology ¹² DOID:0050579

Orphanet ⁵⁹ ORPHA263297

ICD10 via Orphanet ³⁴ E74.0

MedGen ⁴² C3150754

MeSH ⁴⁴ D006008

KEGG ³⁷ H01955

UMLS ⁷³ C3150754

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Summaries for Glycogen Storage Disease Xv

UniProtKB/Swiss-Prot : ⁷⁵ 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, is also known as glycogen storage disease type xv, 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 is Starch and sucrose metabolism. Affiliated tissues include skeletal muscle, heart and liver, and related phenotypes are decreased muscle mass and abdominal wall muscle weakness

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.

Description 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

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Symptoms & Phenotypes for Glycogen Storage Disease Xv

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Glycogen Storage Disease Xv:

⁵⁹ ³² (show all 28)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	decreased muscle mass ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003199
2	abdominal wall muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009023
3	cardiomyopathy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001638
4	vertigo ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002321
5	neck flexor weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003722
6	foot dorsiflexor weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009027
7	upper limb muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003484
8	right bundle branch block ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0011712
9	exertional dyspnea ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002875
10	ventricular tachycardia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004756
11	shoulder girdle muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003547
12	palpitations ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001962
13	ventricular fibrillation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001663
14	ventricular hypertrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001714
15	left ventricular septal hypertrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005144
16	t-wave inversion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010872
17	st segment elevation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012251
18	decreased muscle glycogen content ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012270
19	cardiomyocyte hypertrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0031319
20	increased mitochondrial number ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0040014
21	diabetes mellitus ⁵⁹		Excluded (0%)
22	hypothyroidism ⁵⁹		Excluded (0%)
23	muscle weakness ³²			HP:0001324
24	arrhythmia ⁵⁹		Frequent (79-30%)
25	emg: myopathic abnormalities ⁵⁹		Frequent (79-30%)
26	abnormal levels of creatine kinase in blood ⁵⁹		Excluded (0%)
27	ventricular arrhythmia ³²			HP:0004308
28	emg ³²	frequent (33%)		HP:0003458

UMLS symptoms related to Glycogen Storage Disease Xv:

muscle weakness

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Drugs & Therapeutics for Glycogen Storage Disease Xv

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses	Recruiting	NCT03642860	Phase 2	Triheptanoin;Placebo Oil

Search 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:

⁴¹

Skeletal Muscle, Heart, Liver

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Publications for Glycogen Storage Disease Xv

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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	PubmedIds
1	GYG1	Glycogenin 1	Protein Coding	1728.54	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Summaries Variants (show sections)	20357282 22198226

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Variations for Glycogen Storage Disease Xv

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

⁷⁵

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

ClinVar genetic disease variations for Glycogen Storage Disease Xv:

⁶ (show all 19)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GYG1	GYG1, 1-BP DEL, 487G	deletion	Pathogenic
2	GYG1	NM_004130.3(GYG1): c.248C> T (p.Thr83Met)	single nucleotide variant	Pathogenic	rs267606858	GRCh37	Chromosome 3, 148714193: 148714193
3	GYG1	NM_004130.3(GYG1): c.248C> T (p.Thr83Met)	single nucleotide variant	Pathogenic	rs267606858	GRCh38	Chromosome 3, 148996406: 148996406
4	GYG1	NM_004130.3(GYG1): c.304G> C (p.Asp102His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs143137713	GRCh38	Chromosome 3, 148996462: 148996462
5	GYG1	NM_004130.3(GYG1): c.304G> C (p.Asp102His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs143137713	GRCh37	Chromosome 3, 148714249: 148714249
6	GYG1	NM_004130.3(GYG1): c.159A> G (p.Thr53=)	single nucleotide variant	Benign	rs148619511	GRCh37	Chromosome 3, 148714104: 148714104
7	GYG1	NM_004130.3(GYG1): c.159A> G (p.Thr53=)	single nucleotide variant	Benign	rs148619511	GRCh38	Chromosome 3, 148996317: 148996317
8	GYG1	NM_004130.3(GYG1): c.452A> T (p.His151Leu)	single nucleotide variant	Benign	rs35054019	GRCh37	Chromosome 3, 148714662: 148714662
9	GYG1	NM_004130.3(GYG1): c.452A> T (p.His151Leu)	single nucleotide variant	Benign	rs35054019	GRCh38	Chromosome 3, 148996875: 148996875
10	GYG1	NM_004130.3(GYG1): c.98G> A (p.Arg33Lys)	single nucleotide variant	Likely benign	rs146101365	GRCh37	Chromosome 3, 148712019: 148712019
11	GYG1	NM_004130.3(GYG1): c.98G> A (p.Arg33Lys)	single nucleotide variant	Likely benign	rs146101365	GRCh38	Chromosome 3, 148994232: 148994232
12	GYG1	NM_004130.3(GYG1): c.961C> T (p.Arg321Trp)	single nucleotide variant	Uncertain significance	rs138596591	GRCh38	Chromosome 3, 149026841: 149026841
13	GYG1	NM_004130.3(GYG1): c.961C> T (p.Arg321Trp)	single nucleotide variant	Uncertain significance	rs138596591	GRCh37	Chromosome 3, 148744628: 148744628
14	GYG1	NM_004130.3(GYG1): c.866G> T (p.Gly289Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 149026489: 149026489
15	GYG1	NM_004130.3(GYG1): c.866G> T (p.Gly289Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 148744276: 148744276
16	GYG1	NM_004130.3(GYG1): c.154G> T (p.Glu52Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 3, 148996312: 148996312
17	GYG1	NM_004130.3(GYG1): c.154G> T (p.Glu52Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 3, 148714099: 148714099
18	GYG1	NM_004130.3(GYG1): c.818A> T (p.Tyr273Phe)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 3, 148742049: 148742049
19	GYG1	NM_004130.3(GYG1): c.818A> T (p.Tyr273Phe)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 3, 149024262: 149024262

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:

³⁷

#	Name	Kegg Source Accession
1	Starch and sucrose metabolism	hsa00500

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GO Terms for Glycogen Storage Disease Xv

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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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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:

Symptoms & Phenotypes for Glycogen Storage Disease Xv

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Glycogen Storage Disease Xv:

UMLS symptoms related to Glycogen Storage Disease Xv:

Drugs & Therapeutics for Glycogen Storage Disease Xv

Interventional clinical trials:

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

Genes for Glycogen Storage Disease Xv

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

Variations for Glycogen Storage Disease Xv

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

ClinVar 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:

GO Terms for Glycogen Storage Disease Xv

Sources for Glycogen Storage Disease Xv