MCID: GLY043
MIFTS: 20

Glycogen Storage Disease Xii malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular 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 49 11 22 67 65
Aldolase a Deficiency 45 22 67
Gsd12 45 22 67
Red Cell Aldolase Deficiency 45 67
Glycogen Storage Disease 12 45 67
 
Aldoa Deficiency 45 67
Glycogen Storage Disease Type 12 45
Aldolase Deficiency Red Cell 45
Gsd Xii 67

Characteristics:

HPO:

61
glycogen storage disease xii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 611881
MedGen34 C0272066
MeSH36 D006008
UMLS65 C0272066

Summaries for Glycogen Storage Disease Xii

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UniProtKB/Swiss-Prot:67 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 glycogen storage disease due to aldolase a deficiency, and has symptoms including epicanthus, short neck and ptosis. An important gene associated with Glycogen Storage Disease Xii is ALDOA (Aldolase, Fructose-Bisphosphate A). Affiliated tissues include liver.

OMIM:49 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 Deficiency22 ALDOA

Anatomical Context for Glycogen Storage Disease Xii

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MalaCards organs/tissues related to Glycogen Storage Disease Xii:

33
Liver

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:

67
id Symbol AA change Variation ID SNP ID
1ALDOAp.Asp129GlyVAR_000550
2ALDOAp.Glu207LysVAR_044142
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

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet