ALDOA
Basic information
Region (hg38): 16:30064164-30070457
Links
Phenotypes
GenCC
Source:
- 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:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Glycogen storage disease XII | AR | Biochemical; Hematologic; Renal | Individuals 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 treatment | Biochemical; Hematologic; Musculoskeletal; Neurologic; Renal | 4788792; 7331996; 3688035; 2825199; 8598869; 14615364 |
ClinVar
This is a list of variants' phenotypes submitted to
- 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 73 | 75 | ||||
missense | 124 | 133 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 4 | |||||
splice donor/acceptor (+/-2bp) | 4 | |||||
Total | 5 | 5 | 128 | 78 | 0 |
Highest pathogenic variant AF is 0.0000131669
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ALDOA | protein_coding | protein_coding | ENST00000395248 | 9 | 17368 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00132 | 0.992 | 125731 | 0 | 16 | 125747 | 0.0000636 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.259 | 235 | 246 | 0.954 | 0.0000161 | 2705 |
Missense in Polyphen | 36 | 61.135 | 0.58886 | 817 | ||
Synonymous | -2.52 | 136 | 103 | 1.32 | 0.00000707 | 861 |
Loss of Function | 2.36 | 8 | 19.1 | 0.418 | 0.00000101 | 220 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000289 | 0.0000289 |
Ashkenazi Jewish | 0.0000994 | 0.0000992 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000706 | 0.0000703 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000163 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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