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ORPHA:228426

Syndromic multisystem autoimmune disease due to Itch deficiency

low confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (recall-expansion).

Publications

0

Trials

96

Interventional, condition-specific

Researchers

0

Distinct authors in sample

Gene link

ITCH

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, systemic autoimmune disease characterized by , global , distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or , and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

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 (1)

syndromic multisystem autoimmune disease due to ITCH deficiency

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.”

2/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ITCH

  2. LiteratureNot found

    No matched Europe PMC hits under our query rules Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    96 matched on ClinicalTrials.gov (18 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 (ITCH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

0

We found no papers under this exact name — work may still exist under another label.

0 in the last 10 years · low confidence

Phrase hits: 0 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

0

Distinct author names in 0 sampled papers.

Who's working on it?

No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.

Clinical research

Is a treatment being tested?

96

interventional trials for this specific condition

96 interventional trials matched this specific condition name; 18 currently recruiting in our sample.

Data as of 27 July 2026

96 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.4th percentile).

low confidence · 98.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

13 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Syndromic multisystem autoimmune disease due to Itch deficiency"

Run this search on Europe PMC

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

"Syndromic multisystem autoimmune disease due to Itch deficiency" OR "ITCH"

Recall-expansion terms: ITCH

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

Study-type breakdown: 96 interventional · 13 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: recall-expansion

Parent literature probe: hereditary disease (MONDO:0003847) — 11220 hits

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Zero publications but GenCC Definitive — literature likely indexed under another name; excluded from neglect count
  • Trial count (96) far exceeds publication count (0) — trial matching may still be loose

Ingested 2026-07-27T10:10:59.187Z · excluded from neglect metrics