RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:90023

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

low confidenceDisorder

Also known as: Primary immunodeficiency syndrome due to LAMTOR2 deficiency · Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency

Query health: suspect — Source fetch failed for trials.

Publications

867

Trials

—

Interventional, condition-specific

Researchers

0

Distinct authors in sample

Gene link

LAMTOR2

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

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 (2)

primary immunodeficiency syndrome due to LAMTOR2 deficiency · primary immunodeficiency syndrome with short stature

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.”

3/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Moderate — LAMTOR2

  2. LiteraturePresent

    867 matched papers (656 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Coarse facial features; Decreased total neutrophil count; Immunodeficiency) 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 trialNot checked

    Trial fetch failed or incomplete

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?

Probably — there is moderate evidence for LAMTOR2.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0012559

  • Coarse facial features
  • Decreased total neutrophil count
  • Immunodeficiency
  • Short stature
  • Hypopigmentation of hair

Showing 5 of 14 — 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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

867

867 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.

867 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).

656 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?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 11 September 2026 · last trial check 31 July 2026

low confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.

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 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency — 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.

("Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency" OR "Primary immunodeficiency syndrome due to LAMTOR2 deficiency" OR "Primary immunodeficiency syndrome due to P14 deficiency" OR "Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency" OR "primary immunodeficiency syndrome with short stature") OR (MESH:"Immunodeficiency due to Defect in MAPBP-Interacting Protein") OR ("LAMTOR2" OR "LAMTOR2 syndrome" OR "LAMTOR2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Immunodeficiency due to Defect in MAPBP-Interacting Protein

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

"Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency" OR "Immunodeficiency due to Defect in MAPBP-Interacting Protein"

Query health: suspect — strategies attempted: phrase, mesh; with hits: none

Parent literature probe: neutropenia (MONDO:0001475) — 149240 hits

Run this search on ClinicalTrials.gov

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Primary%20immunodeficiency%20syndrome%20due%20to%20P14%2FLAMTOR2%20deficiency%22%20OR%20%22Primary%20immunodeficiency%20syndrome%20due%20to%20LAMTOR2%20deficiency%22%20OR%20%22Primary%20immunodeficiency%20syndrome%20due%20to%20P14%20deficiency%22%20OR%20%22Primary%20immunodeficiency%20syndrome%20due%20to%20P14%2FLate%20endosomal%2Flysosomal%20adaptor%2C%20MAPK%20and%20MTOR%20activator%202%20deficiency%22%20OR%20%22primary%20immunodeficiency%20syndrome%20with%20short%20stature%22%20OR%20%22Immunodeficiency%20due%20to%20Defect%20in%20MAPBP-Interacting%20Protein%22&format=json&pageSize=100&countTotal=true

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (867) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:29:39.832Z