GSD12
MCID: GLY043
MIFTS: 21

Glycogen Storage Disease Xii (GSD12) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases, Neuronal diseases, Liver diseases, Cardiovascular diseases, Muscle diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Glycogen Storage Disease Xii

Aliases & Descriptions for Glycogen Storage Disease Xii:

Name: Glycogen Storage Disease Xii 54 24 66 13 69
Aldolase a Deficiency 50 24 66
Gsd12 50 24 66
Glycogen Storage Disease Type 12 50 56
Red Cell Aldolase Deficiency 50 66
Glycogen Storage Disease 12 50 66
Aldoa Deficiency 50 66
Glycogen Storage Disease Due to Aldolase a Deficiency 56
Glycogenosis Due to Aldolase a Deficiency 56
Glycogen Storage Disease Type Xii 56
Gsd Due to Aldolase a Deficiency 56
Aldolase Deficiency Red Cell 50
Glycogenosis Type Xii 56
Glycogenosis Type 12 56
Gsd Type Xii 56
Gsd Type 12 56
Gsd Xii 66

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to aldolase a deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal;

HPO:

32
glycogen storage disease xii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611881
Orphanet 56 ORPHA57
UMLS via Orphanet 70 C0272066
ICD10 via Orphanet 34 E74.0
MedGen 40 C0272066
MeSH 42 D006008

Summaries for Glycogen Storage Disease Xii

UniProtKB/Swiss-Prot : 66 Glycogen storage disease 12: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.

MalaCards based summary : Glycogen Storage Disease Xii, also known as aldolase a deficiency, is related to hemolytic anemia, and has symptoms including short neck, ptosis and intellectual disability. An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A).

OMIM : 54 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al.,... (611881) more...

Related Diseases for Glycogen Storage Disease Xii

Symptoms & Phenotypes for Glycogen Storage Disease Xii

Symptoms by clinical synopsis from OMIM:

611881

Clinical features from OMIM:

611881

Human phenotypes related to Glycogen Storage Disease Xii:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 ptosis 32 HP:0000508
3 intellectual disability 32 HP:0001249
4 splenomegaly 32 HP:0001744
5 short stature 32 HP:0004322
6 delayed puberty 32 HP:0000823
7 myopathy 32 HP:0003198
8 epicanthus 32 HP:0000286
9 low posterior hairline 32 HP:0002162
10 cholelithiasis 32 HP:0001081
11 jaundice 32 HP:0000952
12 cholecystitis 32 HP:0001082
13 normocytic anemia 32 HP:0001897
14 normochromic anemia 32 HP:0001895
15 nonspherocytic hemolytic anemia 32 HP:0001930

UMLS symptoms related to Glycogen Storage Disease Xii:


icterus

Drugs & Therapeutics for Glycogen Storage Disease Xii

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

Genetic Tests for Glycogen Storage Disease Xii

Genetic tests related to Glycogen Storage Disease Xii:

id Genetic test Affiliating Genes
1 Aldolase a Deficiency 24 ALDOA

Anatomical Context for Glycogen Storage Disease Xii

Publications for Glycogen Storage Disease Xii

Variations for Glycogen Storage Disease Xii

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

66
id Symbol AA change Variation ID SNP ID
1 ALDOA p.Asp129Gly VAR_000550 rs121909533
2 ALDOA p.Glu207Lys VAR_044142 rs121909534
3 ALDOA p.Cys339Tyr VAR_044143
4 ALDOA p.Gly347Ser VAR_044144 rs138824667

ClinVar genetic disease variations for Glycogen Storage Disease Xii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ALDOA NM_000034.3(ALDOA): c.386A> G (p.Asp129Gly) single nucleotide variant Pathogenic rs121909533 GRCh37 Chromosome 16, 30080145: 30080145
2 ALDOA NM_000034.3(ALDOA): c.619G> A (p.Glu207Lys) single nucleotide variant Pathogenic rs121909534 GRCh37 Chromosome 16, 30080705: 30080705

Copy number variations for Glycogen Storage Disease Xii from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264712 16 29971972 29989236 Deletion ALDOA Aldolase A deficiency

Expression for Glycogen Storage Disease Xii

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

Pathways for Glycogen Storage Disease Xii

GO Terms for Glycogen Storage Disease Xii

Sources for Glycogen Storage Disease Xii

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
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