MCID: GLY043
MIFTS: 21

Glycogen Storage Disease Xii malady

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

Aliases & Classifications for Glycogen Storage Disease Xii

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Sources:
45OMIM, 10diseasecard, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Glycogen Storage Disease Xii, Aliases & Descriptions:

Name: Glycogen Storage Disease Xii 45 10 60
Glycogen Storage Disease Due to Aldolase a Deficiency 41 47
Glycogenosis Due to Aldolase a Deficiency 41 47
Glycogen Storage Disease Type 12 41 47
Gsd Due to Aldolase a Deficiency 41 47
Aldolase a Deficiency 41 20
Glycogenosis Type 12 41 47
 
Gsd Type 12 41 47
Aldolase Deficiency Red Cell 41
Red Cell Aldolase Deficiency 41
Glycogen Storage Disease 12 41
Aldoa Deficiency 41
Gsd12 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
glycogen storage disease due to aldolase a deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal


External Ids:

OMIM45 611881
Orphanet47 57
ICD10 via Orphanet26 E74.0
UMLS via Orphanet61 C0272066

Summaries for Glycogen Storage Disease Xii

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OMIM:45 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al.,... (611881) more...

MalaCards based summary: Glycogen Storage Disease Xii, also known as glycogen storage disease due to aldolase a deficiency, is related to hemolytic anemia, and has symptoms including autosomal recessive inheritance, epicanthus and short neck. An important gene associated with Glycogen Storage Disease Xii is ALDOA (aldolase A, fructose-bisphosphate).

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 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 epicanthus HP:0000286
3 short neck HP:0000470
4 ptosis HP:0000508
5 delayed puberty HP:0000823
6 jaundice HP:0000952
7 cholelithiasis HP:0001081
8 cholecystitis HP:0001082
9 intellectual disability HP:0001249
10 splenomegaly HP:0001744
11 normochromic anemia HP:0001895
12 normocytic anemia HP:0001897
13 nonspherocytic hemolytic anemia HP:0001930
14 low posterior hairline HP:0002162
15 myopathy HP:0003198
16 short stature HP:0004322

Drugs & Therapeutics for Glycogen Storage Disease Xii

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Xii

Search 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 Deficiency20 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:

62
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:

6
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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Compounds 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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Products for genes affiliated with Glycogen Storage Disease Xii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Xii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet