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 51 24 69 12 67
Aldolase a Deficiency 47 24 69
Gsd12 47 24 69
Glycogen Storage Disease Type 12 47 53
Red Cell Aldolase Deficiency 47 69
Glycogen Storage Disease 12 47 69
Aldoa Deficiency 47 69
Glycogen Storage Disease Due to Aldolase a Deficiency 53
Glycogenosis Due to Aldolase a Deficiency 53
 
Glycogen Storage Disease Type Xii 53
Gsd Due to Aldolase a Deficiency 53
Aldolase Deficiency Red Cell 47
Glycogenosis Type Xii 53
Glycogenosis Type 12 53
Gsd Type Xii 53
Gsd Type 12 53
Gsd Xii 69

Characteristics:

Orphanet epidemiological data:

53
glycogen storage disease type 12:
Inheritance: Autosomal recessive; Age of onset: Neonatal

HPO:

63
glycogen storage disease xii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 611881
Orphanet53 ORPHA57
UMLS via Orphanet68 C0272066
ICD10 via Orphanet30 E74.0
MedGen36 C0272066
MeSH38 D006008

Summaries for Glycogen Storage Disease Xii

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UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Glycogen Storage Disease Xii:

 63 (show all 15)
id Description HPO Frequency HPO Source Accession
1 epicanthus63 HP:0000286
2 short neck63 HP:0000470
3 ptosis63 HP:0000508
4 delayed puberty63 HP:0000823
5 jaundice63 HP:0000952
6 cholelithiasis63 HP:0001081
7 cholecystitis63 HP:0001082
8 intellectual disability63 HP:0001249
9 splenomegaly63 HP:0001744
10 normochromic anemia63 HP:0001895
11 normocytic anemia63 HP:0001897
12 nonspherocytic hemolytic anemia63 HP:0001930
13 low posterior hairline63 HP:0002162
14 myopathy63 HP:0003198
15 short stature63 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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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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet