ALDOA

aldolase, fructose-bisphosphate A, the group of Aldolases

Basic information

Region (hg38): 16:30064164-30070457

Links

ENSG00000149925NCBI:226OMIM:103850HGNC:414Uniprot:P04075AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • glycogen storage disease due to aldolase A deficiency (Definitive), mode of inheritance: AR
  • glycogen storage disease due to aldolase A deficiency (Strong), mode of inheritance: AR
  • glycogen storage disease due to aldolase A deficiency (Strong), mode of inheritance: AR
  • glycogen storage disease due to aldolase A deficiency (Supportive), mode of inheritance: AR
  • glycogen storage disease due to aldolase A deficiency (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Glycogen storage disease XIIARBiochemical; Hematologic; RenalIndividuals can have rhabdomyolysis from stressors such as febrile illness, and appropriate precautions and management may be beneficial; Aldolase A deficiency is also asociated with hereditary hemolytic anemia, and transfusions and splenectomy have been described in treatmentBiochemical; Hematologic; Musculoskeletal; Neurologic; Renal4788792; 7331996; 3688035; 2825199; 8598869; 14615364

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ALDOA gene.

  • HNSHA_due_to_aldolase_A_deficiency (247 variants)
  • not_provided (42 variants)
  • Inborn_genetic_diseases (28 variants)
  • not_specified (22 variants)
  • ALDOA-related_disorder (13 variants)
  • See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDOA gene is commonly pathogenic or not. These statistics are base on transcript: NM_001243177.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
73
clinvar
75
missense
2
clinvar
2
clinvar
124
clinvar
5
clinvar
133
nonsense
0
start loss
0
frameshift
3
clinvar
1
clinvar
4
splice donor/acceptor (+/-2bp)
3
clinvar
1
clinvar
4
Total 5 5 128 78 0

Highest pathogenic variant AF is 0.0000131669

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ALDOAprotein_codingprotein_codingENST00000395248 917368
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001320.9921257310161257470.0000636
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2592352460.9540.00001612705
Missense in Polyphen3661.1350.58886817
Synonymous-2.521361031.320.00000707861
Loss of Function2.36819.10.4180.00000101220

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.00009940.0000992
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00007060.0000703
Middle Eastern0.00005440.0000544
South Asian0.0001630.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). {ECO:0000250}.;
Disease
DISEASE: Glycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. {ECO:0000269|PubMed:14615364, ECO:0000269|PubMed:14766013, ECO:0000269|PubMed:2229018, ECO:0000269|PubMed:2825199, ECO:0000269|PubMed:8598869}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Glycolysis / Gluconeogenesis - Homo sapiens (human);Fructose and mannose metabolism - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Pentose phosphate pathway - Homo sapiens (human);Pentose Phosphate Pathway;Fructose intolerance, hereditary;Glycolysis;Glycogenosis, Type VII. Tarui disease;Gluconeogenesis;Glycogenosis, Type IA. Von gierke disease;Glycogenosis, Type IC;Fanconi-bickel syndrome;Glucose-6-phosphate dehydrogenase deficiency;Ribose-5-phosphate isomerase deficiency;Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease;Transaldolase deficiency;Fructose and Mannose Degradation;Triosephosphate isomerase;Fructose-1,6-diphosphatase deficiency;Fructosuria;Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1);Glycogenosis, Type IB;Pathways in clear cell renal cell carcinoma;Glycolysis and Gluconeogenesis;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Neutrophil degranulation;downregulated of mta-3 in er-negative breast tumors;Metabolism of carbohydrates;Fructose Mannose metabolism;Glycolysis Gluconeogenesis;Innate Immune System;Immune System;Metabolism;Pentose phosphate cycle;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Glycolysis;EGFR1;Hemostasis;gluconeogenesis;glycolysis;superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle;Gluconeogenesis;Glucose metabolism;sucrose degradation;HIF-1-alpha transcription factor network (Consensus)

Recessive Scores

pRec
0.571

Intolerance Scores

loftool
0.0383
rvis_EVS
-0.58
rvis_percentile_EVS
18.59

Haploinsufficiency Scores

pHI
0.303
hipred
Y
hipred_score
0.630
ghis
0.580

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.999

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Aldoa
Phenotype

Zebrafish Information Network

Gene name
aldoaa
Affected structure
pigment cell
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
platelet degranulation;fructose metabolic process;gluconeogenesis;glycolytic process;ATP biosynthetic process;striated muscle contraction;actin filament organization;binding of sperm to zona pellucida;regulation of cell shape;fructose 1,6-bisphosphate metabolic process;neutrophil degranulation;muscle cell cellular homeostasis;protein homotetramerization;canonical glycolysis
Cellular component
extracellular region;extracellular space;nucleus;cytosol;actin cytoskeleton;membrane;integral component of membrane;platelet alpha granule lumen;M band;I band;secretory granule lumen;sperm head;extracellular exosome;tertiary granule lumen;ficolin-1-rich granule lumen
Molecular function
RNA binding;actin binding;fructose-bisphosphate aldolase activity;protein binding;cytoskeletal protein binding;tubulin binding;identical protein binding;cadherin binding;fructose binding