GSD12
MCID: GLY043
MIFTS: 30

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 57 74 13 72
Aldolase a Deficiency 57 75 53 74
Red Cell Aldolase Deficiency 57 53 74
Aldoa Deficiency 57 53 74
Gsd12 57 53 74
Glycogen Storage Disease Type Xii 59 37
Glycogen Storage Disease Type 12 53 59
Glycogen Storage Disease 12 53 74
Gsd Xii 57 74
Glycogen Storage Disease Due to Aldolase a Deficiency 59
Glycogenosis Due to Aldolase a Deficiency 59
Storage Disease, Glycogen, Type Xii 40
Gsd Due to Aldolase a Deficiency 59
Aldolase Deficiency, Red Cell 57
Aldolase Deficiency Red Cell 53
Glycogenosis Type Xii 59
Glycogenosis Type 12 59
Gsd Type Xii 59
Gsd Type 12 59

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to aldolase a deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glycogen storage disease xii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611881
KEGG 37 H01952
MeSH 44 D006008
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 73 C0272066
Orphanet 59 ORPHA57
MedGen 42 C0272066
UMLS 72 C0272066

Summaries for Glycogen Storage Disease Xii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 57DefinitionGlycogen 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 deficiency anemia and hereditary spherocytosis, 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 : 57 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987). (611881)

KEGG : 37
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 : 74 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 : 75 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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 myopathy 32 occasional (7.5%) HP:0003198
3 short neck 32 HP:0000470
4 ptosis 32 HP:0000508
5 splenomegaly 32 HP:0001744
6 short stature 32 HP:0004322
7 delayed puberty 32 HP:0000823
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

Symptoms via clinical synopsis from OMIM:

57
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:

(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. 38 8 71
2825199 1987
2
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 8 71
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. 38 8
3688035 1987
4
Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. 8
7331996 1981
5
Red cell aldolase deficiency and hemolytic anemia: a new syndrome. 8
4788792 1973
6
Acute rhabdomyolysis and inflammation. 38
25778939 2015
7
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia. 38
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). 38
14615364 2004
9
[Aldolase A deficiency]. 38
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. 38
2229018 1990
11
"Aldolase A" deficiency with syndrome of growth and developmental retardation, midfacial hypoplasia, hepatomegaly, and consanguineous parents. 38
890096 1977

Variations for Glycogen Storage Disease Xii

ClinVar genetic disease variations for Glycogen Storage Disease Xii:

6 (show all 27)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALDOA NM_184041.4(ALDOA): c.386A> G (p.Asp129Gly) single nucleotide variant Pathogenic rs121909533 16:30080145-30080145 16:30068824-30068824
2 ALDOA NM_184041.4(ALDOA): c.619G> A (p.Glu207Lys) single nucleotide variant Pathogenic rs121909534 16:30080705-30080705 16:30069384-30069384
3 ALDOA NM_184041.4(ALDOA): c.1039G> A (p.Gly347Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138824667 16:30081477-30081477 16:30070156-30070156
4 ALDOA NM_184041.4(ALDOA): c.972G> A (p.Ala324=) single nucleotide variant Conflicting interpretations of pathogenicity rs530089317 16:30081323-30081323 16:30070002-30070002
5 ALDOA NM_184041.4(ALDOA): c.*96C> T single nucleotide variant Uncertain significance rs886051897 16:30081629-30081629 16:30070308-30070308
6 ALDOA NM_184041.4(ALDOA): c.57C> T (p.Ile19=) single nucleotide variant Uncertain significance rs773402743 16:30078632-30078632 16:30067311-30067311
7 ALDOA NM_184041.4(ALDOA): c.113-5C> T single nucleotide variant Uncertain significance rs752764982 16:30078766-30078766 16:30067445-30067445
8 ALDOA NM_184041.4(ALDOA): c.275G> A (p.Arg92His) single nucleotide variant Uncertain significance rs747482925 16:30078933-30078933 16:30067612-30067612
9 ALDOA NM_184041.2(ALDOA): c.379+17delT deletion Uncertain significance rs886051891 16:30080038-30080038 16:30068717-30068717
10 ALDOA NM_184041.4(ALDOA): c.477C> G (p.Pro159=) single nucleotide variant Uncertain significance rs758499704 16:30080236-30080236 16:30068915-30068915
11 ALDOA NM_184041.4(ALDOA): c.497A> G (p.Glu166Gly) single nucleotide variant Uncertain significance rs886051892 16:30080256-30080256 16:30068935-30068935
12 ALDOA NM_184041.4(ALDOA): c.*101G> A single nucleotide variant Uncertain significance rs539833998 16:30081634-30081634 16:30070313-30070313
13 ALDOA NC_000016.9: g.(?_30066083)_(30081533_?)dup duplication Uncertain significance 16:30066083-30081533 16:30054762-30070212
14 ALDOA NM_184041.4(ALDOA): c.61C> T (p.His21Tyr) single nucleotide variant Uncertain significance rs766734350 16:30078636-30078636 16:30067315-30067315
15 ALDOA NM_184041.4(ALDOA): c.202G> C (p.Asp68His) single nucleotide variant Uncertain significance rs201468609 16:30078860-30078860 16:30067539-30067539
16 ALDOA NM_184041.4(ALDOA): c.748G> A (p.Ala250Thr) single nucleotide variant Uncertain significance rs886051893 16:30080943-30080943 16:30069622-30069622
17 ALDOA NM_184041.4(ALDOA): c.945C> T (p.Gly315=) single nucleotide variant Uncertain significance rs142315181 16:30081296-30081296 16:30069975-30069975
18 ALDOA NM_184041.4(ALDOA): c.150G> A (p.Glu50=) single nucleotide variant Uncertain significance rs779556052 16:30078808-30078808 16:30067487-30067487
19 ALDOA NM_184041.4(ALDOA): c.906C> T (p.Tyr302=) single nucleotide variant Uncertain significance rs200761497 16:30081257-30081257 16:30069936-30069936
20 ALDOA NM_184041.4(ALDOA): c.958A> T (p.Asn320Tyr) single nucleotide variant Uncertain significance rs886051894 16:30081309-30081309 16:30069988-30069988
21 ALDOA NM_184041.4(ALDOA): c.*72T> G single nucleotide variant Uncertain significance rs886051895 16:30081605-30081605 16:30070284-30070284
22 ALDOA NM_184041.4(ALDOA): c.*76C> T single nucleotide variant Uncertain significance rs886051896 16:30081609-30081609 16:30070288-30070288
23 ALDOA NM_184041.4(ALDOA): c.*136C> T single nucleotide variant Uncertain significance rs191226606 16:30081669-30081669 16:30070348-30070348
24 ALDOA NM_184041.4(ALDOA): c.64C> T (p.Arg22Cys) single nucleotide variant Uncertain significance rs145582724 16:30078639-30078639 16:30067318-30067318
25 ALDOA NM_184041.4(ALDOA): c.760G> A (p.Val254Ile) single nucleotide variant Uncertain significance rs142759891 16:30080955-30080955 16:30069634-30069634
26 ALDOA NM_184041.4(ALDOA): c.249A> G (p.Thr83=) single nucleotide variant Benign/Likely benign rs76767223 16:30078907-30078907 16:30067586-30067586
27 ALDOA NM_184041.4(ALDOA): c.1038C> T (p.Ser346=) single nucleotide variant Benign/Likely benign rs77290575 16:30081476-30081476 16:30070155-30070155

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

74
# 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

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:

37
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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