RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:313800

ROSAH syndrome

low confidenceDisorder

Also known as: Optic nerve edema-splenomegaly syndrome · Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

Publications

727

Trials

1

Interventional, condition-specific

Researchers

628

Distinct authors in sample

Gene link

ALPK1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare presumably genetic disorder characterized by massive with pancytopenia and childhood-onset chronic optic nerve edema with slowly vision loss. Additional reported features include anhidrosis, urticaria and headaches.

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 (3)

ROSAH · optic nerve edema-splenomegaly syndrome · retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache

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 — ALPK1

  2. LiteraturePresent

    727 matched papers (637 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Recurrent fever; Cone/cone-rod dystrophy; Visual loss) 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 (1 recruiting in sample)

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 (ALPK1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

8

Associated phenotypes · MONDO:0013999

  • Recurrent fever
  • Cone/cone-rod dystrophy
  • Visual loss
  • Urticaria
  • Migraine

Showing 5 of 8 — 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_0013999

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

727

727 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.

727 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).

637 in the last 10 years · low confidence

Phrase hits: 92 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

628

Distinct author names in 92 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
    Perovic O9 papers · 2024

    Centre for Healthcare-Associated Infections, Antimicrobial Resistance and Mycoses, National Institute for Communicable Diseases, a Division of the National Health Laboratory Service, Johannesburg, South Africa.

    Papers in Europe PMC
  2. 02
    Lowe M6 papers · 2024

    National Institute for Communicable Diseases, a Division of the National Health Laboratory Service, Centre for Healthcare-Associated Infections, Antimicrobial Resistance and Mycoses, 1 Modderfontein Road, Sandringham, Johannesburg, 2131, South Africa.

    Papers in Europe PMC
  3. 03
    Snelling T6 papers · 2025

    MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Scotland, UK.

    Papers in Europe PMC
  4. 04
    Hyun JW5 papers · 2026

    Department of Neurology, Research Institute and Hospital of National Cancer Center, Goyang 10408, Korea.

    Papers in Europe PMC
  5. 05
    Jamilloux Y5 papers · 2026

    Internal Medicine, University Hospital Croix-Rousse, Hospices Civils de Lyon, 69004 Lyon, France.

    Papers in Europe PMC
  6. 06
    Kim HJ5 papers · 2026

    Division of Clinical Research, Research Institute, National Cancer Center, Goyang 10408, Korea.

    Papers in Europe PMC
  7. 07
    Kim SH5 papers · 2026

    Department of Neurology, Research Institute and Hospital of National Cancer Center, Goyang 10408, Korea.

    Papers in Europe PMC
  8. 08
    Sève P5 papers · 2026

    Internal Medicine, University Hospital Croix-Rousse, Hospices Civils de Lyon, 69004 Lyon, France.

    Papers in Europe PMC
  9. 09
    Singh-Moodley A5 papers · 2022

    Centre for Healthcare-Associated Infections, Antimicrobial Resistance and Mycoses, National Institute for Communicable Diseases, a Division of the National Health Laboratory Service, Johannesburg, South Africa.

    Papers in Europe PMC
  10. 10
    Strasheim W5 papers · 2024

    Centre for Healthcare-Associated Infections, Antimicrobial Resistance and Mycoses, National Institute for Communicable Diseases, a Division of the National Health Laboratory Service, Johannesburg, South Africa.

    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; 1 currently recruiting in our sample.

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.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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 ROSAH 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.

("ROSAH syndrome" OR "Optic nerve edema-splenomegaly syndrome" OR "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome" OR "ROSAH" OR "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache") OR ("ALPK1" OR "ALPK1 syndrome" OR "ALPK1-related" OR "ROSAH-related")

Run this search on Europe PMC

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

"ROSAH syndrome" OR "Optic nerve edema-splenomegaly syndrome" OR "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome" OR "ROSAH" OR "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache"

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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (727) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:59:01.283Z