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Glycogen storage disease XV(GSD15)

MedGen UID:: 462104
•Concept ID:: C3150754
•: Disease or Syndrome

Synonyms:	GLYCOGENIN DEFICIENCY; GSD XV; GSD15
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GYG1 (3q24)

Monarch Initiative:	MONDO:0013291
OMIM®:	613507
Orphanet:	ORPHA263297

Definition

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. [from ORDO]

Clinical features

From HPO

Scapular winging

MedGen UID:: 66822
•Concept ID:: C0240953
•: Anatomical Abnormality

Abnormal protrusion of the scapula away from the surface of the back.

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Paroxysmal ventricular tachycardia

MedGen UID:: 18315
•Concept ID:: C0030591
•: Disease or Syndrome

Episodes of ventricular tachycardia that have a sudden onset and ending.

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Ventricular fibrillation

MedGen UID:: 21844
•Concept ID:: C0042510
•: Disease or Syndrome

Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.

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Right bundle branch block

MedGen UID:: 88445
•Concept ID:: C0085615
•: Disease or Syndrome

A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.

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ST segment elevation

MedGen UID:: 99256
•Concept ID:: C0520886
•: Finding

An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.

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T-wave inversion

MedGen UID:: 105467
•Concept ID:: C0520888
•: Finding

An inversion of the T-wave (which is normally positive).

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Muscle weakness

MedGen UID:: 57735
•Concept ID:: C0151786
•: Finding

Reduced strength of muscles.

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Type 1 muscle fiber predominance

MedGen UID:: 344274
•Concept ID:: C1854387
•: Finding

An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).

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Cardiomyocyte hypertrophy

MedGen UID:: 909741
•Concept ID:: C4227331
•: Finding

An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.

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Abnormal cellular phenotype
- Cardiomyocyte hypertrophy
Abnormality of limbs
- Scapular winging
Abnormality of the cardiovascular system
Abnormality of the musculoskeletal system
- Muscle weakness
- Type 1 muscle fiber predominance

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycogen storage disease

Non-Neoplastic Disorder
- Non-Neoplastic Disorder by Special Category
  - Metabolic disease
    - Carbohydrate metabolism disease
      - Inborn carbohydrate metabolic disorder
        Glycogen storage disease
        Glycogen storage disease XV

Follow this link to review classifications for Glycogen storage disease XV in Orphanet.

Recent clinical studies

Etiology

Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis.

Chaikuad A, Froese DS, Berridge G, von Delft F, Oppermann U, Yue WW
Proc Natl Acad Sci U S A 2011 Dec 27;108(52):21028-33. Epub 2011 Dec 12 doi: 10.1073/pnas.1113921108. PMID: 22160680 Free PMC Article

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Glycogen storage disease XV(GSD15)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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