MCID: GLY043
MIFTS: 21

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 52 24 70 12 68
Aldolase a Deficiency 48 24 70
Gsd12 48 24 70
Glycogen Storage Disease Type 12 48 54
Red Cell Aldolase Deficiency 48 70
Glycogen Storage Disease 12 48 70
Aldoa Deficiency 48 70
Glycogen Storage Disease Due to Aldolase a Deficiency 54
Glycogenosis Due to Aldolase a Deficiency 54
 
Glycogen Storage Disease Type Xii 54
Gsd Due to Aldolase a Deficiency 54
Aldolase Deficiency Red Cell 48
Glycogenosis Type Xii 54
Glycogenosis Type 12 54
Gsd Type Xii 54
Gsd Type 12 54
Gsd Xii 70

Characteristics:

Orphanet epidemiological data:

54
glycogen storage disease type 12:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

64
glycogen storage disease xii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 611881
Orphanet54 ORPHA57
UMLS via Orphanet69 C0272066
ICD10 via Orphanet31 E74.0
MedGen37 C0272066
MeSH39 D006008

Summaries for Glycogen Storage Disease Xii

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Glycogen Storage Disease Xii

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Symptoms by clinical synopsis from OMIM:

611881

Clinical features from OMIM:

611881

Human phenotypes related to Glycogen Storage Disease Xii:

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 epicanthus64 HP:0000286
2 short neck64 HP:0000470
3 ptosis64 HP:0000508
4 delayed puberty64 HP:0000823
5 jaundice64 HP:0000952
6 cholelithiasis64 HP:0001081
7 cholecystitis64 HP:0001082
8 intellectual disability64 HP:0001249
9 splenomegaly64 HP:0001744
10 normochromic anemia64 HP:0001895
11 normocytic anemia64 HP:0001897
12 nonspherocytic hemolytic anemia64 HP:0001930
13 low posterior hairline64 HP:0002162
14 myopathy64 HP:0003198
15 short stature64 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 Deficiency24 ALDOA

Anatomical Context for Glycogen Storage Disease Xii

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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:

70
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)SNVPathogenicrs121909533GRCh37Chr 16, 30080145: 30080145
2ALDOANM_000034.3(ALDOA): c.619G> A (p.Glu207Lys)SNVPathogenicrs121909534GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet