GSDH
MCID: GLY033
MIFTS: 21

Glycogen Storage Disease of Heart, Lethal Congenital (GSDH) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Glycogen Storage Disease of Heart, Lethal Congenital

Aliases & Descriptions for Glycogen Storage Disease of Heart, Lethal Congenital:

Name: Glycogen Storage Disease of Heart, Lethal Congenital 54 24 13
Glycogen Storage Disease of Heart Lethal Congenital 66 29
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogen Storage Disease 56
Fatal Congenital Hypertrophic Cardiomyopathy Due to Glycogenosis 56
Lethal Congenital Glycogen Storage Disease of the Heart 50
Fatal Congenital Hypertrophic Cardiomyopathy Due to Gsd 56
Congenital Nonlysosomal Cardiac Glycogenosis 66
Phosphorylase Kinase Deficiency of Heart 66
Gsdh 66

Characteristics:

Orphanet epidemiological data:

56
fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

HPO:

32
glycogen storage disease of heart, lethal congenital:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 261740
Orphanet 56 ORPHA439854
ICD10 via Orphanet 34 E74.0+ G73.6*
MedGen 40 C1849813

Summaries for Glycogen Storage Disease of Heart, Lethal Congenital

UniProtKB/Swiss-Prot : 66 Glycogen storage disease of heart lethal congenital: Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise.

MalaCards based summary : Glycogen Storage Disease of Heart, Lethal Congenital, is also known as glycogen storage disease of heart lethal congenital, and has symptoms including cyanosis, seizures and hypotension. An important gene associated with Glycogen Storage Disease of Heart, Lethal Congenital is PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2). Affiliated tissues include heart.

Description from OMIM: 261740

Related Diseases for Glycogen Storage Disease of Heart, Lethal Congenital

Symptoms & Phenotypes for Glycogen Storage Disease of Heart, Lethal Congenital

Symptoms by clinical synopsis from OMIM:

261740

Clinical features from OMIM:

261740

Human phenotypes related to Glycogen Storage Disease of Heart, Lethal Congenital:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 seizures 32 HP:0001250
3 hypotension 32 HP:0002615
4 macroglossia 32 HP:0000158
5 cardiomegaly 32 HP:0001640
6 ascites 32 HP:0001541
7 congestive heart failure 32 HP:0001635
8 neonatal hypoglycemia 32 HP:0001998
9 pulmonary edema 32 HP:0100598
10 shortened pr interval 32 HP:0005165
11 biventricular hypertrophy 32 HP:0200128

Drugs & Therapeutics for Glycogen Storage Disease of Heart, Lethal Congenital

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease of Heart, Lethal Congenital

Genetic Tests for Glycogen Storage Disease of Heart, Lethal Congenital

Genetic tests related to Glycogen Storage Disease of Heart, Lethal Congenital:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease of Heart, Lethal Congenital 29 24 PRKAG2

Anatomical Context for Glycogen Storage Disease of Heart, Lethal Congenital

MalaCards organs/tissues related to Glycogen Storage Disease of Heart, Lethal Congenital:

39
Heart

Publications for Glycogen Storage Disease of Heart, Lethal Congenital

Variations for Glycogen Storage Disease of Heart, Lethal Congenital

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease of Heart, Lethal Congenital:

66
id Symbol AA change Variation ID SNP ID
1 PRKAG2 p.Arg531Gln VAR_013269 rs121908991

ClinVar genetic disease variations for Glycogen Storage Disease of Heart, Lethal Congenital:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRKAG2 NM_016203.3(PRKAG2): c.905G> A (p.Arg302Gln) single nucleotide variant Pathogenic rs121908987 GRCh37 Chromosome 7, 151273498: 151273498
2 PRKAG2 NM_016203.3(PRKAG2): c.1592G> A (p.Arg531Gln) single nucleotide variant Pathogenic rs121908991 GRCh37 Chromosome 7, 151257696: 151257696
3 PRKAG2 NM_016203.3(PRKAG2): c.1151G> C (p.Arg384Thr) single nucleotide variant Pathogenic rs730882148 GRCh37 Chromosome 7, 151265884: 151265884

Expression for Glycogen Storage Disease of Heart, Lethal Congenital

Search GEO for disease gene expression data for Glycogen Storage Disease of Heart, Lethal Congenital.

Pathways for Glycogen Storage Disease of Heart, Lethal Congenital

GO Terms for Glycogen Storage Disease of Heart, Lethal Congenital

Sources for Glycogen Storage Disease of Heart, Lethal Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....