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ORPHA:324977

Proteasome-associated autoinflammatory syndrome

low confidenceDisorder

Also known as: ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome · PRAAS · Proteasome disability syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3,977

Trials

1

Interventional, condition-specific

Researchers

1,152

Distinct authors in sample

Gene link

PSMB8

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (17)

ALDD · CANDLE syndrome · JMP syndrome · Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy · Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy · Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome · NNS · Nakajo Nishimura syndrome · Nakajo syndrome · Nakajo-Nishimura syndrome · autoinflammation, lipodystrophy, and dermatosis syndrome · autoinflammation-lipodystrophy-dermatosis syndrome · chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature · chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome · proteasome disability syndrome · proteasome-associated autoinflammatory syndrome · secondary hypertrophic osteoperiostosis with pernio

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — PSMB8

  2. LiteraturePresent

    3,977 matched papers (3,113 in last 10 years) Source

  3. Phenotype characterisedPresent

    196 HPO annotations (e.g. Flexion contracture of finger; Sparse axillary hair; Elevated erythrocyte sedimentation rate) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (PSMB8).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

196

Associated phenotypes · MONDO:0009726

  • Flexion contracture of finger
  • Sparse axillary hair
  • Elevated erythrocyte sedimentation rate
  • Flexion contracture of toe
  • Erythema

Showing 5 of 196 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009726

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,977

3,977 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,977 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,113 in the last 10 years · low confidence

Phrase hits: 657 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,152

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Goldbach-Mansky R22 papers · 2026

    Translational Autoinflammatory Diseases Section, National Institute of Arthritis, Musculoskeletal and Skin diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, USA. goldbacr@arb.niams.nih.gov.

    Papers in Europe PMC
  2. 02
    Kanazawa N14 papers · 2026

    Department of Dermatology, Wakayama Medical University, Wakayama, Japan. nkanazaw@wakayama−med.ac.jp

    Papers in Europe PMC
  3. 03
    Krüger E13 papers · 2026

    University Medicine Greifswald, Institute of Medical Biochemistry and Molecular Biology, Greifswald 17475, Germany.

    Papers in Europe PMC
  4. 04
    Ebstein F12 papers · 2026

    University Medicine Greifswald, Institute of Medical Biochemistry and Molecular Biology, Greifswald 17475, Germany.

    Papers in Europe PMC
  5. 05
    de Jesus AA11 papers · 2026

    Translational Autoinflammatory Diseases Section, National Institute of Arthritis, Musculoskeletal and Skin diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, USA.

    Papers in Europe PMC
  6. 06
    Montealegre Sanchez GA7 papers · 2024

    NIH Translational Autoinflammatory Disease Studies/ National Institute of Allergy and Infectious Diseases, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Saito MK7 papers · 2022

    Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.

    Papers in Europe PMC
  8. 08
    Alehashemi S6 papers · 2026

    Translational Autoinflammatory Diseases Section (TADS), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  9. 09
    Aksentijevich I5 papers · 2022

    Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  10. 10
    Brogan PA5 papers · 2024

    Department of Paediatric Rheumatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Proteasome-associated autoinflammatory syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Proteasome-associated autoinflammatory syndrome" OR "ALDD syndrome" OR "Autoinflammation-lipodystrophy-dermatosis syndrome" OR "PRAAS" OR "Proteasome disability syndrome" OR "CANDLE syndrome" OR "JMP syndrome" OR "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy" OR "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" OR "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" OR "Nakajo Nishimura syndrome" OR "Nakajo syndrome" OR "Nakajo-Nishimura syndrome" OR "autoinflammation, lipodystrophy, and dermatosis syndrome" OR "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature" OR "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" OR "secondary hypertrophic osteoperiostosis with pernio") OR (MESH:"Nakajo syndrome") OR ("PSMB8" OR "PSMB8 syndrome" OR "PSMB8-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Nakajo syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Proteasome-associated autoinflammatory syndrome" OR "ALDD syndrome" OR "Autoinflammation-lipodystrophy-dermatosis syndrome" OR "PRAAS" OR "Proteasome disability syndrome" OR "CANDLE syndrome" OR "JMP syndrome" OR "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy" OR "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" OR "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" OR "Nakajo Nishimura syndrome" OR "Nakajo syndrome" OR "Nakajo-Nishimura syndrome" OR "autoinflammation, lipodystrophy, and dermatosis syndrome" OR "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature" OR "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" OR "secondary hypertrophic osteoperiostosis with pernio"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ALDD; NNS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • "CANDLE syndrome" also appears on ORPHA:325004
  • "JMP syndrome" also appears on ORPHA:324999
  • "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" also appears on ORPHA:324999
  • "Nakajo-Nishimura syndrome" also appears on ORPHA:2615
  • "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" also appears on ORPHA:325004
  • "secondary hypertrophic osteoperiostosis with pernio" also appears on ORPHA:2615
  • Publication count (3977) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:42:18.051Z