MCID: GLY043
MIFTS: 22

Glycogen Storage Disease Xii 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

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Aliases & Descriptions for Glycogen Storage Disease Xii:

Name: Glycogen Storage Disease Xii 50 23 68 12 66
Aldolase a Deficiency 46 23 68
Gsd12 46 23 68
Glycogen Storage Disease Type 12 46 52
Red Cell Aldolase Deficiency 46 68
Glycogen Storage Disease 12 46 68
Aldoa Deficiency 46 68
Glycogen Storage Disease Due to Aldolase a Deficiency 52
Glycogenosis Due to Aldolase a Deficiency 52
 
Glycogen Storage Disease Type Xii 52
Gsd Due to Aldolase a Deficiency 52
Aldolase Deficiency Red Cell 46
Glycogenosis Type Xii 52
Glycogenosis Type 12 52
Gsd Type Xii 52
Gsd Type 12 52
Gsd Xii 68

Characteristics:

Orphanet epidemiological data:

52
glycogen storage disease type 12:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

62
glycogen storage disease xii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 611881
Orphanet52 ORPHA57
ICD10 via Orphanet29 E74.0
UMLS via Orphanet67 C0272066
MedGen35 C0272066
MeSH37 D006008

Summaries for Glycogen Storage Disease Xii

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UniProtKB/Swiss-Prot:68 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 epicanthus, short neck and ptosis. An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A).

OMIM:50 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

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Symptoms for Glycogen Storage Disease Xii

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Symptoms by clinical synopsis from OMIM:

611881

Clinical features from OMIM:

611881

HPO human phenotypes related to Glycogen Storage Disease Xii:

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

Drugs & Therapeutics for Glycogen Storage Disease Xii

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Glycogen Storage Disease Xii

Genetic Tests for Glycogen Storage Disease Xii

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Genetic tests related to Glycogen Storage Disease Xii:

id Genetic test Affiliating Genes
1 Aldolase a Deficiency23 ALDOA

Anatomical Context for Glycogen Storage Disease Xii

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Animal Models for Glycogen Storage Disease Xii or affiliated genes

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Publications for Glycogen Storage Disease Xii

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Variations for Glycogen Storage Disease Xii

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

68
id Symbol AA change Variation ID SNP ID
1ALDOAp.Asp129GlyVAR_000550rs121909533
2ALDOAp.Glu207LysVAR_044142rs121909534
3ALDOAp.Cys339TyrVAR_044143
4ALDOAp.Gly347SerVAR_044144rs138824667

Clinvar genetic disease variations for Glycogen Storage Disease Xii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALDOANM_000034.3(ALDOA): c.386A> G (p.Asp129Gly)single nucleotide variantPathogenicrs121909533GRCh37Chr 16, 30080145: 30080145
2ALDOANM_000034.3(ALDOA): c.619G> A (p.Glu207Lys)single nucleotide variantPathogenicrs121909534GRCh37Chr 16, 30080705: 30080705

Copy number variations for Glycogen Storage Disease Xii from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1264712162997197229989236DeletionALDOAAldolase A deficiency

Expression for genes affiliated with Glycogen Storage Disease Xii

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

Pathways for genes affiliated with Glycogen Storage Disease Xii

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GO Terms for genes affiliated with Glycogen Storage Disease Xii

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Sources for Glycogen Storage Disease Xii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet