ALDOA

Summary

ALDOA (aldolase, fructose-bisphosphate A, HGNC:414) is a protein-coding gene on chromosome 16p11.2, encoding Fructose-bisphosphate aldolase A (P04075). Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis. It is a common-essential gene (DepMap: required in 96.7% of cancer cell lines).

This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10.

Source: NCBI Gene 226 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glycogen storage disease due to aldolase A deficiency (Definitive, GenCC)
• GWAS associations: 11
• Clinical variants (ClinVar): 452 total — 174 pathogenic, 35 likely-pathogenic
• Phenotypes (HPO): 49
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 96.7% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001243177

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:414
Approved symbol	ALDOA
Name	aldolase, fructose-bisphosphate A
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000149925
Ensembl biotype	protein_coding
OMIM	103850
Entrez	226

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 13 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000395240, ENST00000412304, ENST00000562168, ENST00000562302, ENST00000562679, ENST00000563060, ENST00000563987, ENST00000564521, ENST00000564688, ENST00000565355, ENST00000566012, ENST00000566130, ENST00000566146, ENST00000566846, ENST00000567555, ENST00000569545, ENST00000569798, ENST00000642816, ENST00000643777

RefSeq mRNA: 4 — MANE Select: NM_001243177 NM_001127617, NM_001243177, NM_184041, NM_184043

CCDS: CCDS10668, CCDS58450

Canonical transcript exons

ENST00000642816 — 10 exons

Exon	Start	End
ENSE00001707002	30068818	30068978
ENSE00003527169	30067234	30067366
ENSE00003549398	30070117	30070414
ENSE00003815069	30069499	30069673
ENSE00003816313	30068646	30068700
ENSE00003823754	30069830	30070029
ENSE00003825082	30069306	30069389
ENSE00003825895	30066885	30067038
ENSE00003828853	30067450	30067661
ENSE00003901957	30065760	30065927

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1084.1989 / max 17343.6644, expressed in 1829 samples.

FANTOM5 promoters (25 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153599	516.2888	1828
153600	390.1020	1829
153591	51.7674	1803
153590	45.5864	1788
153597	28.0481	784
153593	15.7413	1768
153594	8.3063	1633
153601	4.7685	1606
153604	3.6600	1386
153595	2.4799	955

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue	UBERON:0001134	99.94	gold quality
gastrocnemius	UBERON:0001388	99.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.94	gold quality
apex of heart	UBERON:0002098	99.91	gold quality
superior frontal gyrus	UBERON:0002661	99.91	gold quality
prefrontal cortex	UBERON:0000451	99.90	gold quality
frontal cortex	UBERON:0001870	99.90	gold quality
right frontal lobe	UBERON:0002810	99.89	gold quality
heart left ventricle	UBERON:0002084	99.88	gold quality
primary visual cortex	UBERON:0002436	99.88	gold quality
right atrium auricular region	UBERON:0006631	99.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.88	gold quality
muscle of leg	UBERON:0001383	99.86	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.86	gold quality
cerebral cortex	UBERON:0000956	99.84	gold quality
anterior cingulate cortex	UBERON:0009835	99.83	gold quality
heart	UBERON:0000948	99.80	gold quality
mucosa of transverse colon	UBERON:0004991	99.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.80	gold quality
lower esophagus mucosa	UBERON:0035834	99.79	gold quality
caudate nucleus	UBERON:0001873	99.78	gold quality
nucleus accumbens	UBERON:0001882	99.78	gold quality
brain	UBERON:0000955	99.77	gold quality
putamen	UBERON:0001874	99.77	gold quality
hypothalamus	UBERON:0001898	99.77	gold quality
cerebellum	UBERON:0002037	99.77	gold quality
cerebellar cortex	UBERON:0002129	99.77	gold quality
lower esophagus	UBERON:0013473	99.77	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.77	gold quality
cerebellar hemisphere	UBERON:0002245	99.76	gold quality

Single-cell (SCXA)

Detected in 33 experiment(s), a significant marker in 23.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	9611.52
E-GEOD-84465	yes	4784.56
E-GEOD-75140	yes	3810.21
E-MTAB-6819	yes	3529.83
E-MTAB-10662	yes	3393.01
E-MTAB-8495	yes	2258.57
E-MTAB-10042	yes	1789.61
E-MTAB-10485	yes	1423.96
E-HCAD-5	yes	1108.66
E-HCAD-1	yes	229.23
E-HCAD-4	yes	192.84
E-CURD-122	yes	66.66
E-HCAD-35	yes	46.69
E-MTAB-8410	yes	45.58
E-HCAD-6	yes	25.06

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ELF4, HIF1A, JUN, MEF2A, NFIA, NR2C1, PEG10, SP1, TRIM28, ZNF224, ZNF300, ZNF91

miRNA regulators (miRDB)

13 targeting ALDOA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-3116	97.07	65.78	1324

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 96.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 40)

• Gly346 is crucial for the correct conformation and function of aldolase A, because it governs the entry/release of the substrates into/from the enzyme cleft, and/or allows important C-terminal residues to approach the active site. (PMID:14766013)
• The existence of highly AMP-sensitive muscle-like FBPase, activity of which is regulated by metabolite-dependent interaction with aldolase enables the precise regulation of muscle energy expenditures. (PMID:18214967)
• Results identify VDAC2 and aldolase A as membrane proteins of K562 cells with increased expression under iron deprivation. (PMID:18278581)
• Aldolase A may play a role in the radio-response of human cells, probably in nuclei, in addition to its glycolytic role in the cytosol. (PMID:18328256)
• ZNF224 recruits the arginine methyltransferase PRMT5 on the transcriptional repressor complex of the aldolase A gene (PMID:19741270)
• melanoma antigen expressed in G361, a representative melanoma cell line/ reacted with autoantibodies in patient sera (PMID:20181627)
• ALDOA is involved in keratinocyte migration following the induction of lamellipodia formation, and ALDOA-related migration is enhanced by EGF (PMID:20362419)
• This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia (PMID:20381070)
• Posttranslational nitration of aldolase A may be an important pathway that regulates mast cell phenotype and function. (PMID:20511553)
• Data that aldolase forms a complex with ARNO/Arf6 and the V-ATPase and that it may contribute to remodeling of the actin cytoskeleton. (PMID:21307348)
• ALDOA is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. (PMID:21555518)
• The expression of ALDOA and/or SULT1A3 is significantly higher. (PMID:22949271)
• The new prognostic biomarkers GRP78, Fructose-bisphosphate Aldolase A (ALDOA), Carbonic Anhydrase I (CA1) and Peptidyl-prolyl cis-trans isomerase A or Cyclophilin A (PPIA)) provided good survival prediction for TNM stage I-IV patients. (PMID:22996014)
• The results presented here point to ALDA as a factor involved in the regulation of cells proliferation. (PMID:23886627)
• ALDOA is highly expressed in lung squamous cell carcinoma (LSCC) and its expression level is correlated with LSCC metastasis, grades, differentiation status and poor prognosis. (PMID:24465716)
• ALDOC, Aldolase A (ALDOA) and Aldolase B (ALDOB) activate Wnt signaling. (PMID:24993527)
• Study provides evidence supporting a critical functional role of ALDOA in osteosarcoma progression, metastasis and perhaps chemoresistance. (PMID:25215901)
• Our results expand the clinical spectrum of aldolase A deficiency to isolated temperature-dependent rhabdomyolysis, and suggest that thermolability may be tissue specific. We also propose a treatment for this severe disease (PMID:25392908)
• Study shows that PI3K directly coordinates glycolysis with cytoskeletal dynamics in an AKT-independent manner. Growth factors or insulin stimulate the PI3K-dependent activation of Rac, leading to disruption of the actin cytoskeleton, release of filamentous actin-bound aldolase A, and an increase in aldolase activity. (PMID:26824656)
• In vitro and in vivo results demonstrated that ALDOA was associated with proliferation and metastasis of pancreatic cancer cells. (PMID:26854714)
• Overexpression of ALDOA is associated with colorectal cancer. (PMID:27468721)
• mir-122 and its targets G6PC3, ALDOA and CS play roles in the hypoxia responses that regulate glucose and energy metabolism and can serve as hypoxia biomarkers. (PMID:27793029)
• Findings show that ALDOA expression is up-regulated in colorectal cancer (CRC) and is a hypoxia-inducible prognostic factor that is closely related to CRC malignancy. (PMID:28000858)
• Aldolase A promotes lung cancer metastasis via PHD-mediated stabilization of HIF-1alpha and the subsequent activation of MMP9. (PMID:28610954)
• Low ALDOA expression promotes invasion of colorectal cancer. (PMID:29084207)
• The results indicate that ALDOA and PGK1 may indicate resistance to cisplatin in osteosarcoma (PMID:29199648)
• Silencing aldolase A suppressed colon cancer cell proliferation and invasion and inhibited the epithelial-mesenchymal transition phenotype. Aldolase A protein expression in colon cancer was related to tumor location, tumor clinical stage and survival. (PMID:29453983)
• Results showed that ALDOA was upregulated in renal cell carcinoma (RCC) samples and cell lines and significantly associated with metastasis and survival. Overall, data revealed that ALDOA functions as a tumor promoter, plays a prominent role in proliferation, migration, and invasion of RCC cells with high expression, and may promote EMT and activate the Wnt/betacatenin signaling pathway. (PMID:29693182)
• Aldolase A (ALDOA) knockdown reduced cyclin D1 expression by regulating epidermal growth factor receptor/mitogen-activated protein kinase (EGFR/MAPK) pathway. (PMID:29764507)
• ALDOA affected the HIF-1a activity in gastric cancer, and could serve as a prognostic factor for the 5-year overall survival. (PMID:29992789)
• Knockdown of ALDOA in QBC939 and RBE cells attenuated the cell proliferation and induced a higher apoptosis rate. (PMID:30121648)
• we detected ALDOA somatic promoter mutations in two cases (PMID:30430423)
• ALDOA is significantly up-regulated in hepatocellular carcinoma tissue and is closely related to hepatocellular carcinoma malignancy. (PMID:31041640)
• ALDOLASE A regulates invasion of bladder cancer cells via E-cadherin-EGFR signaling. (PMID:31081974)
• High ALDOA expression is associated with Lung Cancer Metastasis. (PMID:31358528)
• Targeting a moonlighting function of aldolase induces apoptosis in cancer cells. (PMID:31558701)
• Nonenzymatic function of Aldolase A downregulates miR-145 to promote the Oct4/DUSP4/TRAF4 axis and the acquisition of lung cancer stemness. (PMID:32188842)
• Exosomes carrying ALDOA and ALDH3A1 from irradiated lung cancer cells enhance migration and invasion of recipients by accelerating glycolysis. (PMID:32297178)
• Glycolytic biomarkers predict transformation in patients with follicular lymphoma. (PMID:32442224)
• A Robust and Cost-Effective Luminescent-Based High-Throughput Assay for Fructose-1,6-Bisphosphate Aldolase A. (PMID:32462959)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	aldoaa	ENSDARG00000011665
danio_rerio	aldoab	ENSDARG00000034470
mus_musculus	Aldoa	ENSMUSG00000030695
mus_musculus	Aldoart1	ENSMUSG00000059343
mus_musculus	Aldoart2	ENSMUSG00000063129
rattus_norvegicus	Aldoart2	ENSRNOG00000030869
rattus_norvegicus	Aldoa	ENSRNOG00000052802
drosophila_melanogaster	Ald1	FBGN0000064
drosophila_melanogaster	Ald2	FBGN0039425
caenorhabditis_elegans		WBGENE00011474
caenorhabditis_elegans		WBGENE00017166

Paralogs (2): ALDOC (ENSG00000109107), ALDOB (ENSG00000136872)

Protein

Protein identifiers

Fructose-bisphosphate aldolase A — P04075 (reviewed: P04075)

Alternative names: Lung cancer antigen NY-LU-1, Muscle-type aldolase

All UniProt accessions (10): P04075, H3BMQ8, H3BPS8, H3BQN4, H3BR04, H3BR68, H3BU78, H3BUH7, J3KPS3, V9HWN7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein.

Subunit / interactions. Homotetramer. Interacts with SNX9 and WAS. Interacts with FBP2; the interaction blocks FBP2 inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+).

Subcellular location. Cytoplasm. Myofibril. Sarcomere. I band. M line.

Post-translational modifications. Phosphorylated at Ser-39 in response to beta-arrestin-1 (ARRB1) signaling, promoting the fructose-bisphosphate aldolase activity, leading to enhanced glycolysis and improved glucose tolerance.

Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.

Miscellaneous. In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.

Similarity. Belongs to the class I fructose-bisphosphate aldolase family.

Isoforms (2)

UniProt ID	Names	Canonical?
P04075-1	1	yes
P04075-2	2

RefSeq proteins (4): NP_001121089, NP_001230106, NP_908930, NP_908932 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000741	FBA_I	Family
IPR013785	Aldolase_TIM	Homologous_superfamily
IPR029768	Aldolase_I_AS	Conserved_site

Pfam: PF00274

Enzyme classification (BRENDA):

• EC 4.1.2.13 — fructose-bisphosphate aldolase (BRENDA: 162 organisms, 156 substrates, 386 inhibitors, 299 Km, 175 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
D-FRUCTOSE 1,6-BISPHOSPHATE	0.0002–20	190
FRUCTOSE 1-PHOSPHATE	0.007–27	42
D-FRUCTOSE 1-PHOSPHATE	0.0017–40	20
D-FRUCTOSE-1,6-BISPHOSPHATE	0.015–0.45	16
D-GLYCERALDEHYDE 3-PHOSPHATE	0.052–1.17	9
GLYCERONE PHOSPHATE	0.065–2	8
SEDOHEPTULOSE 1,7-BISPHOSPHATE	0.008–0.19	3
FRUCTOSE 1,6-BISPHOSPHATE	0.0036–0.009	2
SEDOHEPTULOSE 1,7-DIPHOSPHATE	0.006–10	2
SEDOHEPTULOSE 7-PHOSPHATE	0.0167–0.0195	2
D-XYLULOSE 1-PHOSPHATE	0.0016	1
DIHYDROXYACETONE PHOSPHATE	0.095	1

Catalyzed reactions (Rhea), 1 shown:

• beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate (RHEA:14729)

UniProt features (72 total): helix 18, modified residue 15, strand 12, sequence variant 7, sequence conflict 5, binding site 4, turn 3, active site 2, cross-link 2, initiator methionine 1, chain 1, splice variant 1, site 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
6XML	X-RAY DIFFRACTION	1.88
5KY6	X-RAY DIFFRACTION	1.94
6XMH	X-RAY DIFFRACTION	1.95
1ALD	X-RAY DIFFRACTION	2
2ALD	X-RAY DIFFRACTION	2.1
6XMM	X-RAY DIFFRACTION	2.11
6XMO	X-RAY DIFFRACTION	2.6
4ALD	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P04075-F1	96.53	0.94

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 188 (proton acceptor); 230 (schiff-base intermediate with dihydroxyacetone-p); 364 (necessary for preference for fructose 1,6-bisphosphate over fructose 1-phosphate)

Ligand- & substrate-binding residues (4): 43; 272–274; 301; 304

Post-translational modifications (17): 9, 36, 39, 42, 46, 99, 108, 111, 111, 132, 147, 272, 312, 330, 42, 42, 5

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-6798695	Neutrophil degranulation
R-HSA-70171	Glycolysis
R-HSA-70263	Gluconeogenesis
R-HSA-109582	Hemostasis
R-HSA-1430728	Metabolism
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-70326	Glucose metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 611 (showing top): RNGTGGGC_UNKNOWN, GOBP_SINGLE_FERTILIZATION, AP1_01, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, MODY_HIPPOCAMPUS_POSTNATAL, REACTOME_INNATE_IMMUNE_SYSTEM, SHIPP_DLBCL_VS_FOLLICULAR_LYMPHOMA_UP, WWTAAGGC_UNKNOWN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, HARRIS_HYPOXIA, GOBP_PROTEIN_HOMOTETRAMERIZATION, MODULE_255, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, ENK_UV_RESPONSE_KERATINOCYTE_UP

GO Biological Process (12): fructose metabolic process (GO:0006000), glycolytic process (GO:0006096), ATP biosynthetic process (GO:0006754), striated muscle contraction (GO:0006941), actin filament organization (GO:0007015), binding of sperm to zona pellucida (GO:0007339), regulation of cell shape (GO:0008360), fructose 1,6-bisphosphate metabolic process (GO:0030388), positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774), muscle cell cellular homeostasis (GO:0046716), protein homotetramerization (GO:0051289), canonical glycolysis (GO:0061621)

GO Molecular Function (10): RNA binding (GO:0003723), actin binding (GO:0003779), fructose-bisphosphate aldolase activity (GO:0004332), cytoskeletal protein binding (GO:0008092), tubulin binding (GO:0015631), identical protein binding (GO:0042802), cadherin binding (GO:0045296), fructose binding (GO:0070061), protein binding (GO:0005515), lyase activity (GO:0016829)

GO Cellular Component (15): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), cytosol (GO:0005829), actin cytoskeleton (GO:0015629), membrane (GO:0016020), platelet alpha granule lumen (GO:0031093), M band (GO:0031430), I band (GO:0031674), secretory granule lumen (GO:0034774), sperm head (GO:0061827), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), ficolin-1-rich granule lumen (GO:1904813), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Glucose metabolism	2
Response to elevated platelet cytosolic Ca2+	1
Innate Immune System	1
Immune System	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Metabolism	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
ATP metabolic process	2
cytoskeletal protein binding	2
protein binding	2
intracellular organelle lumen	2
hexose metabolic process	1
phosphoglycerate kinase activity	1
phosphoglycerate mutase activity	1
phosphopyruvate hydratase activity	1
pyruvate kinase activity	1
pyruvate metabolic process	1
generation of precursor metabolites and energy	1
aerobic respiration	1
carbohydrate catabolic process	1
pyridine nucleotide catabolic process	1
glyceraldehyde-3-phosphate dehydrogenase [NAD(P)+] (phosphorylating) activity	1
ADP catabolic process	1
nicotinamide nucleotide metabolic process	1
purine ribonucleotide biosynthetic process	1
purine ribonucleoside triphosphate biosynthetic process	1
muscle contraction	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
sperm-egg recognition	1
regulation of cell morphogenesis	1
regulation of biological quality	1
organophosphate metabolic process	1
carbohydrate derivative metabolic process	1
positive regulation of insulin secretion	1
insulin secretion involved in cellular response to glucose stimulus	1
regulation of insulin secretion involved in cellular response to glucose stimulus	1
cellular homeostasis	1
protein homooligomerization	1
protein tetramerization	1
glucokinase activity	1
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity	1
glucose catabolic process	1
glycolytic process through glucose-6-phosphate	1
nucleic acid binding	1
aldehyde-lyase activity	1

Protein interactions and networks

STRING

2932 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALDOA	GAPDH	P00354	928
ALDOA	PGK1	P00558	870
ALDOA	ENO1	P06733	870
ALDOA	TPI1	P00938	867
ALDOA	PFKL	P17858	867
ALDOA	PGAM1	P18669	839
ALDOA	PGAM4	Q8N0Y7	839
ALDOA	PKM	P14618	836
ALDOA	ZNF224	P17033	835
ALDOA	ZNF230	Q9UIE0	825
ALDOA	GPI	P06744	823
ALDOA	PFKP	Q01813	812
ALDOA	ENO3	P13929	805
ALDOA	LDHA	P00338	798
ALDOA	PFKM	P08237	788

IntAct

156 interactions, top by confidence:

A	B	Type	Score
ALDOA	ALDOC	psi-mi:“MI:0914”(association)	0.790
ALDOC	ALDOA	psi-mi:“MI:0915”(physical association)	0.790
ALDOA	ALDOC	psi-mi:“MI:0915”(physical association)	0.790
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ALDOA	ALDOA	psi-mi:“MI:0915”(physical association)	0.570
ALDOA	PCNA	psi-mi:“MI:0915”(physical association)	0.570
ALDOA	PCNA	psi-mi:“MI:0407”(direct interaction)	0.570
ALDOA	PCNA	psi-mi:“MI:0403”(colocalization)	0.570
EGFR	ALDOA	psi-mi:“MI:0915”(physical association)	0.550
ALDOB	ALDOA	psi-mi:“MI:0915”(physical association)	0.550
ALDOB	ALDOA	psi-mi:“MI:0914”(association)	0.550
ALDOA	ALDOB	psi-mi:“MI:0914”(association)	0.550
VCAM1	PSMD11	psi-mi:“MI:0914”(association)	0.530
ALDOA	CARM1	psi-mi:“MI:0915”(physical association)	0.500
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480

BioGRID (503): ALDOA (Affinity Capture-MS), ALDOA (Affinity Capture-MS), ALDOA (Two-hybrid), ALDOC (Two-hybrid), IFNA4 (Two-hybrid), ALDOA (Affinity Capture-MS), ALDOA (Affinity Capture-MS), ALDOA (Affinity Capture-MS), ACAA2 (Co-fractionation), ACTN4 (Co-fractionation), ALDOA (Co-fractionation), ALDOA (Co-fractionation), ALDOA (Co-fractionation), ALDOA (Co-fractionation), ALDOA (Co-fractionation)

ESM2 similar proteins: A5A6I5, B5DGM7, F4KGQ0, O65581, O65735, P00883, P00884, P04075, P05062, P05063, P05064, P05065, P07341, P07764, P08440, P09117, P09972, P14223, P17784, P22197, P29356, P46256, P46257, P46563, P49577, P52210, P53442, P53445, P53446, P53447, P53448, P54216, P79226, Q10A30, Q27744, Q3T0S5, Q4KMC8, Q5N725, Q5NVR5, Q5R1X4

Diamond homologs: A5A6I5, B5DGM7, F4KGQ0, O65581, O65735, P00883, P00884, P04075, P05062, P05063, P05064, P05065, P07341, P07752, P07764, P08440, P09117, P09972, P14223, P16096, P17784, P22197, P29356, P46256, P46257, P46563, P49577, P52210, P53442, P53445, P53446, P53447, P53448, P53449, P54216, P79226, P86979, P91759, Q01516, Q01517

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
HIF1A	“up-regulates quantity by expression”	ALDOA	“transcriptional regulation”
ZNF224	“down-regulates quantity by repression”	ALDOA	“transcriptional regulation”
TRIM28	“down-regulates quantity by repression”	ALDOA	“transcriptional regulation”
ALDOA	“up-regulates quantity”	“D-glyceraldehyde 3-phosphate(2-)”	“chemical modification”
ALDOA	“up-regulates quantity”	“glycerone phosphate(2-)”	“chemical modification”
ALDOA	“down-regulates quantity”	“beta-D-fructofuranose 1,6-bisphosphate(4-)”	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 150 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
GRB2 events in ERBB2 signaling	5	27.6×	1e-04
SHC1 events in ERBB2 signaling	6	24.8×	4e-05
Signaling by ERBB2 TMD/JMD mutants	6	24.8×	4e-05
Signaling by ERBB2 KD Mutants	6	22.1×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

452 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	174
Likely pathogenic	35
Uncertain significance	111
Likely benign	92
Benign	11

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1075384	NC_000016.9:g.(?29802081)(30200285_?)del	Pathogenic
1199403	GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1	Pathogenic
1330158	GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1	Pathogenic
1330166	GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1	Pathogenic
1330167	GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3	Pathogenic
1330182	GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1	Pathogenic
1330191	GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3	Pathogenic
1330208	GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3	Pathogenic
144509	GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1	Pathogenic
145047	GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1	Pathogenic
145049	GRCh38/hg38 16p11.2(chr16:29662633-30179188)x1	Pathogenic
146122	GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3	Pathogenic
146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	Pathogenic
146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	Pathogenic
146482	GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1	Pathogenic
146730	GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3	Pathogenic
146827	GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3	Pathogenic
146913	GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1	Pathogenic
148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	Pathogenic
148974	GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1	Pathogenic
149293	GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1	Pathogenic
149426	GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1	Pathogenic
149487	GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3	Pathogenic
149494	GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1	Pathogenic
150206	GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3	Pathogenic
150389	GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1	Pathogenic
151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	Pathogenic
151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	Pathogenic
151764	GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1	Pathogenic
151825	GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3	Pathogenic

SpliceAI

1153 predictions. Top by Δscore:

Variant	Effect	Δscore
16:30067218:T:TA	acceptor_gain	1.0000
16:30067225:T:A	acceptor_gain	1.0000
16:30067228:A:AG	acceptor_gain	1.0000
16:30067229:T:G	acceptor_gain	1.0000
16:30067231:CA:C	acceptor_loss	1.0000
16:30067232:A:AG	acceptor_gain	1.0000
16:30067232:A:AT	acceptor_loss	1.0000
16:30067232:AG:A	acceptor_gain	1.0000
16:30067233:G:GA	acceptor_gain	1.0000
16:30067233:GG:G	acceptor_gain	1.0000
16:30067233:GGA:G	acceptor_gain	1.0000
16:30067233:GGAA:G	acceptor_gain	1.0000
16:30067233:GGAAC:G	acceptor_gain	1.0000
16:30067355:A:AG	donor_gain	1.0000
16:30067355:A:G	donor_gain	1.0000
16:30067438:T:TA	acceptor_gain	1.0000
16:30067444:TCCCA:T	acceptor_loss	1.0000
16:30067445:CCCA:C	acceptor_loss	1.0000
16:30067446:CCAG:C	acceptor_loss	1.0000
16:30067448:A:AG	acceptor_gain	1.0000
16:30067448:AG:A	acceptor_gain	1.0000
16:30067448:AGG:A	acceptor_gain	1.0000
16:30067449:G:GA	acceptor_gain	1.0000
16:30067449:GG:G	acceptor_gain	1.0000
16:30067449:GGG:G	acceptor_gain	1.0000
16:30067449:GGGA:G	acceptor_gain	1.0000
16:30067609:G:GT	donor_gain	1.0000
16:30067658:CAAG:C	donor_loss	1.0000
16:30067659:AAGGT:A	donor_loss	1.0000
16:30067662:G:C	donor_loss	1.0000

AlphaMissense

2718 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:30067354:G:C	D34H	1.000
16:30067355:A:C	D34A	1.000
16:30067355:A:T	D34V	1.000
16:30067356:T:A	D34E	1.000
16:30067356:T:G	D34E	1.000
16:30067659:A:G	K108E	1.000
16:30067661:G:C	K108N	1.000
16:30067661:G:T	K108N	1.000
16:30068700:G:A	G127R	1.000
16:30068700:G:C	G127R	1.000
16:30068871:T:C	F145L	1.000
16:30068873:C:A	F145L	1.000
16:30068873:C:G	F145L	1.000
16:30068877:A:G	K147E	1.000
16:30068879:G:C	K147N	1.000
16:30068879:G:T	K147N	1.000
16:30068880:T:A	W148R	1.000
16:30068880:T:C	W148R	1.000
16:30068972:C:G	C178W	1.000
16:30069842:T:A	L271Q	1.000
16:30069848:G:A	G273E	1.000
16:30069881:T:C	L284P	1.000
16:30069916:T:A	W296R	1.000
16:30069916:T:C	W296R	1.000
16:30067339:G:C	G29R	0.999
16:30067340:G:A	G29D	0.999
16:30067349:C:A	A32D	0.999
16:30067354:G:A	D34N	0.999
16:30067354:G:T	D34Y	0.999
16:30067355:A:G	D34G	0.999

dbSNP variants (sampled 300 via entrez): RS1000352840 (16:30067938 C>T), RS1000808684 (16:30068142 G>A), RS1000935844 (16:30066070 C>A,T), RS1001682378 (16:30062570 C>T), RS1002066292 (16:30066326 C>G), RS1002327010 (16:30068462 A>G), RS1002926886 (16:30069658 C>T), RS1003375008 (16:30063860 C>T), RS1003637770 (16:30067845 A>G), RS1003654263 (16:30066004 G>A,T), RS1003699930 (16:30066174 C>A), RS1003978136 (16:30064705 G>A), RS1004250722 (16:30065659 G>C), RS1004354159 (16:30069037 A>G), RS1005032920 (16:30063456 G>A)

Disease associations

OMIM: gene MIM:103850 | disease phenotypes: MIM:611881, MIM:128200, MIM:613444, MIM:614671, MIM:611913, MIM:277000, MIM:209850, MIM:181500

GenCC curated gene-disease

Disease	Classification	Inheritance
glycogen storage disease due to aldolase A deficiency	Definitive	Autosomal recessive

Mondo (13): glycogen storage disease due to aldolase A deficiency (MONDO:0012747), episodic kinesigenic dyskinesia (MONDO:0044202), distal 16p11.2 microdeletion syndrome (MONDO:0013267), 16p11.2p12.2 microduplication syndrome (MONDO:0016834), chromosome 16p11.2 duplication syndrome (MONDO:0013847), proximal 16p11.2 microdeletion syndrome (MONDO:0012756), Mayer-Rokitansky-Kuster-Hauser syndrome type 1 (MONDO:0010173), breast ductal adenocarcinoma (MONDO:0005590), autism spectrum disorder (MONDO:0005258), epilepsy syndrome (MONDO:0015650), autism (MONDO:0005260), schizophrenia (MONDO:0005090), neurodevelopmental disorder (MONDO:0700092)

Orphanet (10): Glycogen storage disease due to aldolase A deficiency (Orphanet:57), Paroxysmal kinesigenic dyskinesia (Orphanet:98809), Distal 16p11.2 microdeletion syndrome (Orphanet:261222), 16p11.2p12.2 microduplication syndrome (Orphanet:261204), Proximal 16p11.2 microduplication syndrome (Orphanet:370079), Proximal 16p11.2 microdeletion syndrome (Orphanet:261197), Mayer-Rokitansky-Küster-Hauser syndrome type 1 (Orphanet:247775), Epilepsy syndrome (Orphanet:166463), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

49 total (30 of 49 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000286	Epicanthus
HP:0000470	Short neck
HP:0000508	Ptosis
HP:0000750	Delayed speech and language development
HP:0000823	Delayed puberty
HP:0000952	Jaundice
HP:0001081	Cholelithiasis
HP:0001082	Cholecystitis
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0001324	Muscle weakness
HP:0001328	Specific learning disability
HP:0001510	Growth delay
HP:0001744	Splenomegaly
HP:0001878	Hemolytic anemia
HP:0001895	Normochromic anemia
HP:0001897	Normocytic anemia
HP:0001903	Anemia
HP:0001919	Acute kidney injury
HP:0001930	Nonspherocytic hemolytic anemia
HP:0001945	Fever
HP:0002153	Hyperkalemia
HP:0002162	Low posterior hairline
HP:0002240	Hepatomegaly
HP:0002904	Hyperbilirubinemia
HP:0002913	Myoglobinuria
HP:0003198	Myopathy
HP:0003199	Decreased muscle mass

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST002539_82	Schizophrenia	5.000000e-11
GCST004521_236	Autism spectrum disorder or schizophrenia	4.000000e-10
GCST006803_23	Schizophrenia	6.000000e-13
GCST007293_15	Body fat distribution (arm fat ratio)	6.000000e-06
GCST007293_81	Body fat distribution (arm fat ratio)	4.000000e-08
GCST007611_22	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	7.000000e-09
GCST007930_179	Medication use (agents acting on the renin-angiotensin system)	9.000000e-09
GCST010703_269	Brain morphology (MOSTest)	4.000000e-13
GCST90002393_269	Monocyte count	2.000000e-17
GCST90002400_175	Plateletcrit	2.000000e-16
GCST90014268_33	Cataracts	5.000000e-07

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0004346	neuroimaging measurement
EFO:0005091	monocyte count
EFO:0007985	platelet crit

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D065886	Neurodevelopmental Disorders	F03.625
C579850	16p11.2 Deletion Syndrome (supp.)
C562718	Glycogen Storage Disease XII (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2106 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

5 potent at pChembl≥5 of 5 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.14	Kd	71.55	nM	CHEMBL5653589
7.14	ED50	71.55	nM	CHEMBL5653589
5.40	Kd	3972	nM	CHEMBL3752910
5.40	ED50	3972	nM	CHEMBL3752910
5.17	IC50	6760	nM	MOLIBRESIB

PubChem BioAssay actives

3 with measured affinity, of 12 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147843: Binding affinity to human ALDOA incubated for 45 mins by Kinobead based pull down assay	kd	0.0716	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147843: Binding affinity to human ALDOA incubated for 45 mins by Kinobead based pull down assay	kd	3.9718	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178818: Inhibition of ALDOA (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	6.7600	uM

CTD chemical–gene interactions

125 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, increases abundance, affects cotreatment	6
cobaltous chloride	increases expression, decreases reaction	5
Oxygen	decreases reaction, increases expression	5
Cyclosporine	decreases expression, increases expression	4
bisphenol A	affects expression, decreases expression, affects cotreatment	3
Benzo(a)pyrene	increases methylation, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression, increases metabolic processing	3
Tretinoin	affects cotreatment, increases expression	3
trichostatin A	decreases expression, increases expression	2
chloropicrin	decreases expression, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	2
LDN 193189	affects cotreatment, decreases expression	2
Arsenic	increases expression, increases methylation, increases abundance	2
Smoke	decreases expression, increases abundance, increases expression	2
Valproic Acid	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	increases sumoylation	1
aminomethylphosphonic acid (AMPA)	increases expression	1
beauvericin	decreases expression	1
chloroacetaldehyde	increases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression, decreases expression	1
decabromobiphenyl ether	decreases expression	1
ascorbate-2-phosphate	affects binding, affects cotreatment, increases expression	1
diethyl maleate	affects expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1

ChEMBL screening assays

9 unique, capped per target: 9 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5541302	Binding	Binding affinity to ALDOA in human ASPC1 cells at 1 uM incubated for 5 hrs by Western blot analysis	Novel Covalent Probe Selectively Targeting Glutathione Peroxidase 4 In Vivo: Potential Applications in Pancreatic Cancer Therapy. — J Med Chem

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD