GSD12
MCID: GLY043
MIFTS: 31

Glycogen Storage Disease Xii (GSD12)

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

Aliases & Classifications for Glycogen Storage Disease Xii

MalaCards integrated aliases for Glycogen Storage Disease Xii:

Name: Glycogen Storage Disease Xii 56 73 13 71
Aldolase a Deficiency 56 74 52 73
Red Cell Aldolase Deficiency 56 52 73
Aldoa Deficiency 56 52 73
Gsd12 56 52 73
Glycogen Storage Disease Type Xii 58 36
Glycogen Storage Disease Type 12 52 58
Glycogen Storage Disease 12 52 73
Gsd Xii 56 73
Glycogen Storage Disease Due to Aldolase a Deficiency 58
Glycogenosis Due to Aldolase a Deficiency 58
Storage Disease, Glycogen, Type Xii 39
Gsd Due to Aldolase a Deficiency 58
Aldolase Deficiency, Red Cell 56
Aldolase Deficiency Red Cell 52
Glycogenosis Type Xii 58
Glycogenosis Type 12 58
Gsd Type Xii 58
Gsd Type 12 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to aldolase a deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease xii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM 56 611881
KEGG 36 H01952
MeSH 43 D006008
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 72 C0272066
Orphanet 58 ORPHA57
MedGen 41 C0272066
UMLS 71 C0272066

Summaries for Glycogen Storage Disease Xii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 57 Definition Glycogen 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 (triggered 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 anemia, x-linked, with or without neutropenia and/or platelet abnormalities and deficiency 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 : 56 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987). (611881)

KEGG : 36 Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical presentation is hemolytic anemia, neurologic abnormalities, and myopathy with exercise intolerance.

UniProtKB/Swiss-Prot : 73 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 : 74 Aldolase A deficiency, is an autosomal recessive metabolic disorder resulting in a deficiency of the... more...

Related Diseases for Glycogen Storage Disease Xii

Graphical network of the top 20 diseases related to Glycogen Storage Disease Xii:



Diseases related to Glycogen Storage Disease Xii

Symptoms & Phenotypes for Glycogen Storage Disease Xii

Human phenotypes related to Glycogen Storage Disease Xii:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 myopathy 31 occasional (7.5%) HP:0003198
3 splenomegaly 31 HP:0001744
4 short neck 31 HP:0000470
5 short stature 31 HP:0004322
6 delayed puberty 31 HP:0000823
7 low posterior hairline 31 HP:0002162
8 epicanthus 31 HP:0000286
9 ptosis 31 HP:0000508
10 cholelithiasis 31 HP:0001081
11 jaundice 31 HP:0000952
12 cholecystitis 31 HP:0001082
13 normocytic anemia 31 HP:0001897
14 normochromic anemia 31 HP:0001895
15 nonspherocytic hemolytic anemia 31 HP:0001930

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Head And Neck Eyes:
epicanthus
ptosis

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 Neck:
short neck
low posterior hairline

Endocrine Features:
delayed puberty

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:

(show all 11)
# Title Authors PMID Year
1
Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. 61 56 6
2825199 1987
2
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 56 6
8598869 1996
3
A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. 61 56
3688035 1987
4
Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. 56
7331996 1981
5
Red cell aldolase deficiency and hemolytic anemia: a new syndrome. 56
4788792 1973
6
Acute rhabdomyolysis and inflammation. 61
25778939 2015
7
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia. 61
25392908 2014
8
Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). 61
14615364 2004
9
[Aldolase A deficiency]. 61
11596407 2001
10
Human aldolase A of a hemolytic anemia patient with Asp-128----Gly substitution: characteristics of an enzyme generated in E. coli transfected with the expression plasmid pHAAD128G. 61
2229018 1990
11
"Aldolase A" deficiency with syndrome of growth and developmental retardation, midfacial hypoplasia, hepatomegaly, and consanguineous parents. 61
890096 1977

Variations for Glycogen Storage Disease Xii

ClinVar genetic disease variations for Glycogen Storage Disease Xii:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALDOA NM_001365304.1(LOC112694756):c.*895A>GSNV Pathogenic 18177 rs121909533 16:30080145-30080145 16:30068824-30068824
2 ALDOA NM_001365304.1(LOC112694756):c.*1128G>ASNV Pathogenic 18178 rs121909534 16:30080705-30080705 16:30069384-30069384
3 ALDOA NM_001365304.1(LOC112694756):c.*1548G>ASNV Conflicting interpretations of pathogenicity 318840 rs138824667 16:30081477-30081477 16:30070156-30070156
4 ALDOA NM_001365304.1(LOC112694756):c.*1481G>ASNV Conflicting interpretations of pathogenicity 318838 rs530089317 16:30081323-30081323 16:30070002-30070002
5 ALDOA NM_184041.4(ALDOA):c.112+4C>TSNV Conflicting interpretations of pathogenicity 503727 rs200278984 16:30078691-30078691 16:30067370-30067370
6 ALDOA NC_000016.9:g.(?_30066083)_(30081533_?)dupduplication Uncertain significance 583847 16:30066083-30081533 16:30054762-30070212
7 ALDOA NM_184041.4(ALDOA):c.*72T>GSNV Uncertain significance 318841 rs886051895 16:30081605-30081605 16:30070284-30070284
8 ALDOA NM_184041.4(ALDOA):c.*76C>TSNV Uncertain significance 318842 rs886051896 16:30081609-30081609 16:30070288-30070288
9 ALDOA NM_184041.4(ALDOA):c.*136C>TSNV Uncertain significance 318845 rs191226606 16:30081669-30081669 16:30070348-30070348
10 ALDOA NM_001365304.1(LOC112694756):c.*573C>TSNV Uncertain significance 318826 rs145582724 16:30078639-30078639 16:30067318-30067318
11 ALDOA NM_001365304.1(LOC112694756):c.*1269G>ASNV Uncertain significance 450306 rs142759891 16:30080955-30080955 16:30069634-30069634
12 ALDOA NM_184041.4(ALDOA):c.*96C>TSNV Uncertain significance 318843 rs886051897 16:30081629-30081629 16:30070308-30070308
13 ALDOA NM_001365304.1(LOC112694756):c.*566C>TSNV Uncertain significance 318824 rs773402743 16:30078632-30078632 16:30067311-30067311
14 ALDOA NM_184041.4(ALDOA):c.113-5C>TSNV Uncertain significance 318827 rs752764982 16:30078766-30078766 16:30067445-30067445
15 ALDOA NM_001365304.1(LOC112694756):c.*784G>ASNV Uncertain significance 318830 rs747482925 16:30078933-30078933 16:30067612-30067612
16 ALDOA NM_184041.2(ALDOA):c.379+17delTdeletion Uncertain significance 318831 rs886051891 16:30080038-30080038 16:30068716-30068716
17 ALDOA NM_001365304.1(LOC112694756):c.*986C>GSNV Uncertain significance 318832 rs758499704 16:30080236-30080236 16:30068915-30068915
18 ALDOA NM_001365304.1(LOC112694756):c.*1006A>GSNV Uncertain significance 318833 rs886051892 16:30080256-30080256 16:30068935-30068935
19 ALDOA NM_184041.4(ALDOA):c.*101G>ASNV Uncertain significance 318844 rs539833998 16:30081634-30081634 16:30070313-30070313
20 ALDOA NM_001365304.1(LOC112694756):c.*570C>TSNV Uncertain significance 318825 rs766734350 16:30078636-30078636 16:30067315-30067315
21 ALDOA NM_001365304.1(LOC112694756):c.*711G>CSNV Uncertain significance 318829 rs201468609 16:30078860-30078860 16:30067539-30067539
22 ALDOA NM_001365304.1(LOC112694756):c.*1257G>ASNV Uncertain significance 318834 rs886051893 16:30080943-30080943 16:30069622-30069622
23 ALDOA NM_001365304.1(LOC112694756):c.*1454C>TSNV Uncertain significance 318836 rs142315181 16:30081296-30081296 16:30069975-30069975
24 ALDOA NM_001365304.1(LOC112694756):c.*659G>ASNV Uncertain significance 318828 rs779556052 16:30078808-30078808 16:30067487-30067487
25 ALDOA NM_001365304.1(LOC112694756):c.*1415C>TSNV Uncertain significance 318835 rs200761497 16:30081257-30081257 16:30069936-30069936
26 ALDOA NM_001365304.1(LOC112694756):c.*1467A>TSNV Uncertain significance 318837 rs886051894 16:30081309-30081309 16:30069988-30069988
27 ALDOA NM_184043.2(ALDOA):c.1038C>T (p.Ser346=)SNV Benign/Likely benign 318839 rs77290575 16:30081476-30081476 16:30070155-30070155
28 ALDOA NM_001365304.1(LOC112694756):c.*1320C>TSNV Benign/Likely benign 381165 rs111252736 16:30081162-30081162 16:30069841-30069841
29 ALDOA NM_184043.2(ALDOA):c.249A>G (p.Thr83=)SNV Benign/Likely benign 382578 rs76767223 16:30078907-30078907 16:30067586-30067586
30 ALDOA NM_184041.4(ALDOA):c.324+17C>GSNV Benign/Likely benign 385014 rs78209292 16:30078999-30078999 16:30067678-30067678
31 ALDOA NM_184043.2(ALDOA):c.999+17G>TSNV Benign 379944 rs2071390 16:30081367-30081367 16:30070046-30070046

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

73
# 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

Copy number variations for Glycogen Storage Disease Xii from CNVD:

7
# CNVD ID Chromosome 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:

36
# 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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....