MCID: GLY043
MIFTS: 27

Glycogen Storage Disease Xii

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

Aliases & Classifications for Glycogen Storage Disease Xii

MalaCards integrated aliases for Glycogen Storage Disease Xii:

Name: Glycogen Storage Disease Xii 53 71 13 69
Aldolase a Deficiency 53 72 49 71
Red Cell Aldolase Deficiency 53 49 71
Aldoa Deficiency 53 49 71
Gsd12 53 49 71
Glycogen Storage Disease Type Xii 55 36
Glycogen Storage Disease Type 12 49 55
Glycogen Storage Disease 12 49 71
Gsd Xii 53 71
Glycogen Storage Disease Due to Aldolase a Deficiency 55
Glycogenosis Due to Aldolase a Deficiency 55
Gsd Due to Aldolase a Deficiency 55
Aldolase Deficiency, Red Cell 53
Aldolase Deficiency Red Cell 49
Glycogenosis Type Xii 55
Glycogenosis Type 12 55
Gsd Type Xii 55
Gsd Type 12 55

Characteristics:

Orphanet epidemiological data:

55
glycogen storage disease due to aldolase a deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease xii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 611881
Orphanet 55 ORPHA57
UMLS via Orphanet 70 C0272066
ICD10 via Orphanet 33 E74.0
MedGen 39 C0272066
MeSH 41 D006008
KEGG 36 H01952
UMLS 69 C0272066

Summaries for Glycogen Storage Disease Xii

NIH Rare Diseases : 49 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. Last updated: 3/1/2015

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), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pentose phosphate pathway.

OMIM : 53 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987). (611881)

UniProtKB/Swiss-Prot : 71 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 : 72 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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Glycogen Storage Disease Xii:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 ptosis 31 HP:0000508
3 intellectual disability 31 occasional (7.5%) HP:0001249
4 splenomegaly 31 HP:0001744
5 short stature 31 HP:0004322
6 delayed puberty 31 HP:0000823
7 myopathy 31 occasional (7.5%) HP:0003198
8 epicanthus 31 HP:0000286
9 low posterior hairline 31 HP:0002162
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

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

Variations for Glycogen Storage Disease Xii

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

71
# 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
# 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
# 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:

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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