Proteostasis deficiencies
diseaseOn this page
Also known as deficiencies, Proteostasisdeficiency, Proteostasisdisease, Protein foldingdisease, Protein Misfoldingdiseases, Protein foldingdiseases, Protein Misfoldingdisorder, Protein foldingdisorder, Protein Misfoldingdisorders, Protein foldingdisorders, Protein Misfoldingdysfunction, Proteostasisdysfunctions, Proteostasisfolding disease, Proteinfolding diseases, Proteinfolding disorder, Proteinfolding disorders, ProteinMisfolding disease, ProteinMisfolding diseases, ProteinMisfolding disorder, ProteinMisfolding disorders, Protein
Summary
Proteostasis deficiencies (MONDO:0021179) is a disease and 2 clinical trials. Top therapeutic interventions include rotigotine. A subtype of metabolic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Clinical trials: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | proteostasis deficiencies |
| Mondo ID | MONDO:0021179 |
| MeSH | D057165 |
| UMLS | C2718000 |
| MedGen | 403490 |
| Is cancer (heuristic) | no |
Also known as: deficiencies, Proteostasis · deficiency, Proteostasis · disease, Protein folding · disease, Protein Misfolding · diseases, Protein folding · diseases, Protein Misfolding · disorder, Protein folding · disorder, Protein Misfolding · disorders, Protein folding · disorders, Protein Misfolding · dysfunction, Proteostasis · dysfunctions, Proteostasis · folding disease, Protein · folding diseases, Protein · folding disorder, Protein · folding disorders, Protein · Misfolding disease, Protein · Misfolding diseases, Protein · Misfolding disorder, Protein · Misfolding disorders, Protein (+14 more)
Disease family
This is a subtype of metabolic disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › proteostasis deficiencies
Related subtypes (36): glutaric aciduria, mineral metabolism disease, xanthinuria, chondrocalcinosis, ochronosis disorder, glucose metabolism disease, diabetic kidney disease, xanthoma, diabetic retinopathy, hypertriglyceridemia, gout, lactic acidosis, acquired metabolic disease, lipodystrophy, developmental anomaly of metabolic origin, dopa-responsive dystonia, hypoalphalipoproteinemia, steroid dehydrogenase deficiency-dental anomalies syndrome, inborn errors of metabolism, vitamin B12 deficiency, hyperlipidemia, disorder of GPI anchor biosynthesis, bilirubin metabolism disease, hyperlipoproteinemia, carbohydrate metabolism disease, porphyrin metabolism disease, purine metabolism disease, amino acid metabolism disease, pyrimidine metabolism disease, disorder of acid-base balance, disorder of glutamate decarboxylase, tumor lysis syndrome, collagenous sprue, steroid metabolism disease, disorder of organic acid metabolism, skeletal fluorosis
Subtypes (4): synucleinopathy, amyloidosis, TDP-43 proteinopathy, SQSTM1-related multisystem proteinopathy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 1 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04937452 | PHASE2 | COMPLETED | Dopaminergic Therapy for Frontotemporal Dementia Patients |
| NCT04825145 | Not specified | COMPLETED | Preeclampsia and Contact Activation |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ROTIGOTINE | 4 | 1 |
| CHEMBL104383 | 0 | 1 |
Related Atlas pages
- Drugs: Rotigotine