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ORPHA:61

Alpha-mannosidosis

high confidenceDisorder

Also known as: Lysosomal alpha-D-mannosidase deficiency

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

Publications

622

83.1th percentile

Trials

14

Interventional, condition-specific

Researchers

1,278

Distinct authors in sample

Gene link

MAN2B1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

alpha-mannosidosis · lysosomal alpha-D-mannosidase deficiency · mannosidosis, alpha-, types I and II

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

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

  1. Gene identifiedPresent

    Definitive — MAN2B1

  2. LiteraturePresent

    622 matched papers (269 in last 10 years) 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

    14 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 (MAN2B1).

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?

622

622 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=5449) is 41.

622 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

269 in the last 10 years · high confidence · 83.1th percentile (publications denominator)

Phrase hits: 622 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,278

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
    Lund AM16 papers · 2025

    Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark. allan.meldgaard.lund@regionh.dk.

    Papers in Europe PMC
  2. 02
    Borgwardt L13 papers · 2025

    Department of Clinical Genetics, Centre for Inherited Metabolic Disorders, Copenhagen University hospital, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark, line.gutte.borgwardt@rh.regionh.dk.

    Papers in Europe PMC
  3. 03
    Guffon N11 papers · 2025

    Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Lyon, France.

    Papers in Europe PMC
  4. 04
    Hennermann JB10 papers · 2026

    University Medical Center Mainz, Dept. of Pediatric and Adolescent Medicine, Mainz, Germany.

    Papers in Europe PMC
  5. 05
    Fogh J9 papers · 2018

    Zymenex A/S (Chiesi Group), Hilleroed, Denmark. jf@zymenex.com.

    Papers in Europe PMC
  6. 06
    Dali CI8 papers · 2018

    Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark. christine.I.dali@regionh.dk.

    Papers in Europe PMC
  7. 07
    Malm D8 papers · 2022

    The Tromsø Internal Medicine Specialist Center, Tromsø, Norway.

    Papers in Europe PMC
  8. 08
    Gil-Campos M7 papers · 2024

    Unidad de Metabolismo e Investigación Pediátrica, Hospital Universitario Reina Sofía, IMIBIC, Universidad de Córdoba, CIBERObn, Córdoba, Spain.

    Papers in Europe PMC
  9. 09
    Jones SA7 papers · 2025

    Metabolic and Blood and Marrow Transplant Units, Royal Manchester Children's Hospital, Manchester, United Kingdom.

    Papers in Europe PMC
  10. 10
    Stepien KM7 papers · 2025

    Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).

high confidence · 93.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

6 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.

"Alpha-mannosidosis" OR "Lysosomal alpha-D-mannosidase deficiency" OR "mannosidosis, alpha-, types I and II"

Run this search on Europe PMC

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

"Alpha-mannosidosis" OR "Lysosomal alpha-D-mannosidase deficiency" OR "mannosidosis, alpha-, types I and II" OR "MAN2B1"

Recall-expansion terms: MAN2B1

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: 14 interventional · 6 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

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

Ingested 2026-07-26T12:16:48.477Z