GSD12
MCID: GLY043
MIFTS: 28

Glycogen Storage Disease Xii (GSD12)

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

Aliases & Classifications for Glycogen Storage Disease Xii

MalaCards integrated aliases for Glycogen Storage Disease Xii:

Name: Glycogen Storage Disease Xii 58 76 13 74
Aldolase a Deficiency 58 77 54 76
Red Cell Aldolase Deficiency 58 54 76
Aldoa Deficiency 58 54 76
Gsd12 58 54 76
Glycogen Storage Disease Type Xii 60 38
Glycogen Storage Disease Type 12 54 60
Glycogen Storage Disease 12 54 76
Gsd Xii 58 76
Glycogen Storage Disease Due to Aldolase a Deficiency 60
Glycogenosis Due to Aldolase a Deficiency 60
Storage Disease, Glycogen, Type Xii 41
Gsd Due to Aldolase a Deficiency 60
Aldolase Deficiency, Red Cell 58
Aldolase Deficiency Red Cell 54
Glycogenosis Type Xii 60
Glycogenosis Type 12 60
Gsd Type Xii 60
Gsd Type 12 60

Characteristics:

Orphanet epidemiological data:

60
glycogen storage disease due to aldolase a deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
glycogen storage disease xii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 611881
KEGG 38 H01952
MeSH 45 D006008
ICD10 via Orphanet 35 E74.0
UMLS via Orphanet 75 C0272066
Orphanet 60 ORPHA57
MedGen 43 C0272066
UMLS 74 C0272066

Summaries for Glycogen Storage Disease Xii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 57Disease definitionGlycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Glycogen Storage Disease Xii, also known as aldolase a deficiency, is related to hereditary spherocytosis and hemolytic anemia, and has symptoms including icterus An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pentose phosphate pathway. Related phenotypes are intellectual disability and myopathy

OMIM : 58 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987). (611881)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Aldolase A deficiency, also called ALDOA deficiency, red cell aldolase deficiency or glycogen storage... more...

Related Diseases for Glycogen Storage Disease Xii

Symptoms & Phenotypes for Glycogen Storage Disease Xii

Human phenotypes related to Glycogen Storage Disease Xii:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 myopathy 33 occasional (7.5%) HP:0003198
3 short neck 33 HP:0000470
4 ptosis 33 HP:0000508
5 splenomegaly 33 HP:0001744
6 short stature 33 HP:0004322
7 delayed puberty 33 HP:0000823
8 epicanthus 33 HP:0000286
9 low posterior hairline 33 HP:0002162
10 cholelithiasis 33 HP:0001081
11 jaundice 33 HP:0000952
12 cholecystitis 33 HP:0001082
13 normocytic anemia 33 HP:0001897
14 normochromic anemia 33 HP:0001895
15 nonspherocytic hemolytic anemia 33 HP:0001930

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck
low posterior hairline

Abdomen Spleen:
splenomegaly

Endocrine Features:
delayed puberty

Abdomen Liver:
jaundice

Hematology:
normocytic anemia
normochromic anemia
congenital nonspherocytic hemolytic anemia
normal red cell osmotic fragility

Muscle Soft Tissue:
myopathy (in some patients)

Head And Neck Eyes:
ptosis
epicanthus

Growth Height:
short stature

Abdomen Biliary Tract:
cholelithiasis
cholecystitis

Skin Nails Hair Skin:
jaundice

Neurologic Central Nervous System:
mental retardation (in some patients)

Laboratory Abnormalities:
aldolase a deficiency

Clinical features from OMIM:

611881

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

Anatomical Context for Glycogen Storage Disease Xii

Publications for Glycogen Storage Disease Xii

Articles related to Glycogen Storage Disease Xii:

# Title Authors Year
1
[Aldolase A deficiency]. ( 11596407 )
2001
2
Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. ( 2825199 )
1987
3
A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. ( 3688035 )
1987
4
"Aldolase A" deficiency with syndrome of growth and developmental retardation, midfacial hypoplasia, hepatomegaly, and consanguineous parents. ( 890096 )
1977

Variations for Glycogen Storage Disease Xii

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

76
# 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 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDOA NM_001243177.2(ALDOA): c.548A> G (p.Asp183Gly) single nucleotide variant Pathogenic rs121909533 GRCh37 Chromosome 16, 30080145: 30080145
2 ALDOA NM_001243177.2(ALDOA): c.548A> G (p.Asp183Gly) single nucleotide variant Pathogenic rs121909533 GRCh38 Chromosome 16, 30068824: 30068824
3 ALDOA NM_001243177.2(ALDOA): c.781G> A (p.Glu261Lys) single nucleotide variant Pathogenic rs121909534 GRCh37 Chromosome 16, 30080705: 30080705
4 ALDOA NM_001243177.2(ALDOA): c.781G> A (p.Glu261Lys) single nucleotide variant Pathogenic rs121909534 GRCh38 Chromosome 16, 30069384: 30069384
5 ALDOA NM_001243177.2(ALDOA): c.312G> A (p.Glu104=) single nucleotide variant Uncertain significance rs779556052 GRCh38 Chromosome 16, 30067487: 30067487
6 ALDOA NM_001243177.2(ALDOA): c.312G> A (p.Glu104=) single nucleotide variant Uncertain significance rs779556052 GRCh37 Chromosome 16, 30078808: 30078808
7 ALDOA NM_001243177.2(ALDOA): c.1068C> T (p.Tyr356=) single nucleotide variant Uncertain significance rs200761497 GRCh38 Chromosome 16, 30069936: 30069936
8 ALDOA NM_001243177.2(ALDOA): c.1068C> T (p.Tyr356=) single nucleotide variant Uncertain significance rs200761497 GRCh37 Chromosome 16, 30081257: 30081257
9 ALDOA NM_001243177.2(ALDOA): c.1120A> T (p.Asn374Tyr) single nucleotide variant Uncertain significance rs886051894 GRCh38 Chromosome 16, 30069988: 30069988
10 ALDOA NM_001243177.2(ALDOA): c.1120A> T (p.Asn374Tyr) single nucleotide variant Uncertain significance rs886051894 GRCh37 Chromosome 16, 30081309: 30081309
11 ALDOA NM_001243177.2(ALDOA): c.1201G> A (p.Gly401Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138824667 GRCh38 Chromosome 16, 30070156: 30070156
12 ALDOA NM_001243177.2(ALDOA): c.1201G> A (p.Gly401Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138824667 GRCh37 Chromosome 16, 30081477: 30081477
13 ALDOA NM_001243177.2(ALDOA): c.223C> T (p.His75Tyr) single nucleotide variant Uncertain significance rs766734350 GRCh38 Chromosome 16, 30067315: 30067315
14 ALDOA NM_001243177.2(ALDOA): c.223C> T (p.His75Tyr) single nucleotide variant Uncertain significance rs766734350 GRCh37 Chromosome 16, 30078636: 30078636
15 ALDOA NM_001243177.2(ALDOA): c.364G> C (p.Asp122His) single nucleotide variant Uncertain significance rs201468609 GRCh38 Chromosome 16, 30067539: 30067539
16 ALDOA NM_001243177.2(ALDOA): c.364G> C (p.Asp122His) single nucleotide variant Uncertain significance rs201468609 GRCh37 Chromosome 16, 30078860: 30078860
17 ALDOA NM_001243177.2(ALDOA): c.910G> A (p.Ala304Thr) single nucleotide variant Uncertain significance rs886051893 GRCh38 Chromosome 16, 30069622: 30069622
18 ALDOA NM_001243177.2(ALDOA): c.910G> A (p.Ala304Thr) single nucleotide variant Uncertain significance rs886051893 GRCh37 Chromosome 16, 30080943: 30080943
19 ALDOA NM_001243177.2(ALDOA): c.1107C> T (p.Gly369=) single nucleotide variant Uncertain significance rs142315181 GRCh38 Chromosome 16, 30069975: 30069975
20 ALDOA NM_001243177.2(ALDOA): c.1107C> T (p.Gly369=) single nucleotide variant Uncertain significance rs142315181 GRCh37 Chromosome 16, 30081296: 30081296
21 ALDOA NM_184043.2(ALDOA): c.1038C> T (p.Ser346=) single nucleotide variant Benign/Likely benign rs77290575 GRCh38 Chromosome 16, 30070155: 30070155
22 ALDOA NM_184043.2(ALDOA): c.1038C> T (p.Ser346=) single nucleotide variant Benign/Likely benign rs77290575 GRCh37 Chromosome 16, 30081476: 30081476
23 ALDOA NM_001243177.2(ALDOA): c.*72T> G single nucleotide variant Uncertain significance rs886051895 GRCh38 Chromosome 16, 30070284: 30070284
24 ALDOA NM_001243177.2(ALDOA): c.*72T> G single nucleotide variant Uncertain significance rs886051895 GRCh37 Chromosome 16, 30081605: 30081605
25 ALDOA NM_001243177.2(ALDOA): c.*76C> T single nucleotide variant Uncertain significance rs886051896 GRCh38 Chromosome 16, 30070288: 30070288
26 ALDOA NM_001243177.2(ALDOA): c.*76C> T single nucleotide variant Uncertain significance rs886051896 GRCh37 Chromosome 16, 30081609: 30081609
27 ALDOA NM_001243177.2(ALDOA): c.*136C> T single nucleotide variant Uncertain significance rs191226606 GRCh38 Chromosome 16, 30070348: 30070348
28 ALDOA NM_001243177.2(ALDOA): c.*136C> T single nucleotide variant Uncertain significance rs191226606 GRCh37 Chromosome 16, 30081669: 30081669
29 ALDOA NM_001243177.2(ALDOA): c.226C> T (p.Arg76Cys) single nucleotide variant Uncertain significance rs145582724 GRCh37 Chromosome 16, 30078639: 30078639
30 ALDOA NM_001243177.2(ALDOA): c.226C> T (p.Arg76Cys) single nucleotide variant Uncertain significance rs145582724 GRCh38 Chromosome 16, 30067318: 30067318
31 ALDOA NM_001243177.2(ALDOA): c.1134G> A (p.Ala378=) single nucleotide variant Conflicting interpretations of pathogenicity rs530089317 GRCh38 Chromosome 16, 30070002: 30070002
32 ALDOA NM_001243177.2(ALDOA): c.1134G> A (p.Ala378=) single nucleotide variant Conflicting interpretations of pathogenicity rs530089317 GRCh37 Chromosome 16, 30081323: 30081323
33 ALDOA NM_001243177.2(ALDOA): c.*96C> T single nucleotide variant Uncertain significance rs886051897 GRCh38 Chromosome 16, 30070308: 30070308
34 ALDOA NM_001243177.2(ALDOA): c.*96C> T single nucleotide variant Uncertain significance rs886051897 GRCh37 Chromosome 16, 30081629: 30081629
35 ALDOA NM_184041.2(ALDOA): c.379+17delT deletion Uncertain significance rs886051891 GRCh37 Chromosome 16, 30080038: 30080038
36 ALDOA NM_001243177.2(ALDOA): c.219C> T (p.Ile73=) single nucleotide variant Uncertain significance rs773402743 GRCh37 Chromosome 16, 30078632: 30078632
37 ALDOA NM_001243177.2(ALDOA): c.219C> T (p.Ile73=) single nucleotide variant Uncertain significance rs773402743 GRCh38 Chromosome 16, 30067311: 30067311
38 ALDOA NM_001243177.2(ALDOA): c.275-5C> T single nucleotide variant Uncertain significance rs752764982 GRCh38 Chromosome 16, 30067445: 30067445
39 ALDOA NM_001243177.2(ALDOA): c.275-5C> T single nucleotide variant Uncertain significance rs752764982 GRCh37 Chromosome 16, 30078766: 30078766
40 ALDOA NM_001243177.2(ALDOA): c.437G> A (p.Arg146His) single nucleotide variant Uncertain significance rs747482925 GRCh38 Chromosome 16, 30067612: 30067612
41 ALDOA NM_001243177.2(ALDOA): c.437G> A (p.Arg146His) single nucleotide variant Uncertain significance rs747482925 GRCh37 Chromosome 16, 30078933: 30078933
42 ALDOA NM_184041.2(ALDOA): c.379+17delT deletion Uncertain significance rs886051891 GRCh38 Chromosome 16, 30068717: 30068717
43 ALDOA NM_001243177.2(ALDOA): c.639C> G (p.Pro213=) single nucleotide variant Uncertain significance rs758499704 GRCh38 Chromosome 16, 30068915: 30068915
44 ALDOA NM_001243177.2(ALDOA): c.639C> G (p.Pro213=) single nucleotide variant Uncertain significance rs758499704 GRCh37 Chromosome 16, 30080236: 30080236
45 ALDOA NM_001243177.2(ALDOA): c.659A> G (p.Glu220Gly) single nucleotide variant Uncertain significance rs886051892 GRCh38 Chromosome 16, 30068935: 30068935
46 ALDOA NM_001243177.2(ALDOA): c.659A> G (p.Glu220Gly) single nucleotide variant Uncertain significance rs886051892 GRCh37 Chromosome 16, 30080256: 30080256
47 ALDOA NM_001243177.2(ALDOA): c.*101G> A single nucleotide variant Uncertain significance rs539833998 GRCh38 Chromosome 16, 30070313: 30070313
48 ALDOA NM_001243177.2(ALDOA): c.*101G> A single nucleotide variant Uncertain significance rs539833998 GRCh37 Chromosome 16, 30081634: 30081634
49 ALDOA NM_184043.2(ALDOA): c.249A> G (p.Thr83=) single nucleotide variant Benign/Likely benign rs76767223 GRCh37 Chromosome 16, 30078907: 30078907
50 ALDOA NM_184043.2(ALDOA): c.249A> G (p.Thr83=) single nucleotide variant Benign/Likely benign rs76767223 GRCh38 Chromosome 16, 30067586: 30067586

Copy number variations for Glycogen Storage Disease Xii from CNVD:

7
# 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

Pathways related to Glycogen Storage Disease Xii according to KEGG:

38
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Pentose phosphate pathway hsa00030
3 Fructose and mannose metabolism hsa00051

GO Terms for Glycogen Storage Disease Xii

Sources for Glycogen Storage Disease Xii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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