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:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Glycogen Storage Disease Xii:

Name: Glycogen Storage Disease Xii 46 9 61
Glycogen Storage Disease Due to Aldolase a Deficiency 42 48
Glycogenosis Due to Aldolase a Deficiency 42 48
Glycogen Storage Disease Type 12 42 48
Gsd Due to Aldolase a Deficiency 42 48
Aldolase a Deficiency 42 20
Glycogenosis Type 12 42 48
 
Gsd Type 12 42 48
Aldolase Deficiency Red Cell 42
Red Cell Aldolase Deficiency 42
Glycogen Storage Disease 12 42
Aldoa Deficiency 42
Gsd12 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to aldolase a deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal


External Ids:

OMIM46 611881
Orphanet48 57
ICD10 via Orphanet26 E74.0
UMLS via Orphanet62 C0272066

Summaries for Glycogen Storage Disease Xii

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OMIM:46 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:

63
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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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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Sources for Glycogen Storage Disease Xii

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet