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ORPHA:2701

Noonan syndrome-like disorder with loose anagen hair

low confidenceDisorder

Also known as: Mazzanti syndrome · NS/LAH

Publications

3,849

Trials

0

Interventional, condition-specific

Researchers

1,097

Distinct authors in sample

Gene link

HRAS, PPP1CB, SHOC2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.

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)

Tosti syndrome

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — HRAS, PPP1CB, SHOC2

  2. LiteraturePresent

    3,849 matched papers (2,706 in last 10 years) Source

  3. Phenotype characterisedPresent

    169 HPO annotations (e.g. Hypoplasia of the corpus callosum; Short stature; Intellectual disability) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (HRAS, PPP1CB, SHOC2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

169

Associated phenotypes · MONDO:0011899

  • Hypoplasia of the corpus callosum
  • Short stature
  • Intellectual disability
  • Aortic regurgitation
  • Hypermetropia

Showing 5 of 169 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

3,849

3,849 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.

3,849 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).

2,706 in the last 10 years · low confidence

Phrase hits: 167 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,097

Distinct author names in 167 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Tartaglia M35 papers · 2025

    Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.

    Papers in Europe PMC
  2. 02
    Gelb BD13 papers · 2025

    Child Health and Development Institute, Mount Sinai School of Medicine, New York, New York 10029, USA. bruce.gelb@mssm.edu

    Papers in Europe PMC
  3. 03
    Zenker M12 papers · 2025

    Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany. Electronic address: martin.zenker@med.ovgu.de.

    Papers in Europe PMC
  4. 04
    Galperin E10 papers · 2024

    Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY, USA.

    Papers in Europe PMC
  5. 05
    Gripp KW9 papers · 2025

    Division of Medical Genetics, Department of Pediatrics, A.I. duPont Hospital for Children, Wilmington, Delaware.

    Papers in Europe PMC
  6. 06
    Digilio MC7 papers · 2022

    Medical Genetics Unit, Bambino Gesù Children's Hospital and Research Institute, 00165, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Zampino G7 papers · 2023

    Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Catholic University of the Sacred Heart, 00168 Rome, Italy.

    Papers in Europe PMC
  8. 08
    De Luca A6 papers · 2022

    Medical Genetics Division, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71043 San Giovanni Rotondo, Italy.

    Papers in Europe PMC
  9. 09
    Mazzanti L6 papers · 2025

    Pediatric Endocrinology and Rare Diseases, Department of Pediatrics, S.Orsola-Malpighi University Hospital - University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Rossi C6 papers · 2024

    Department of Medical Genetics, Policlinico Sant'Orsola-Malpighi, University of Bologna, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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 Noonan syndrome-like disorder with loose anagen hair — 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.

("Noonan syndrome-like disorder with loose anagen hair" OR "Mazzanti syndrome" OR "NS/LAH" OR "Tosti syndrome") OR ("PPP1CB" OR "PPP1CB syndrome" OR "PPP1CB-related" OR "SHOC2" OR "SHOC2 syndrome" OR "SHOC2-related")

Run this search on Europe PMC

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

"Noonan syndrome-like disorder with loose anagen hair" OR "Mazzanti syndrome" OR "NS/LAH" OR "Tosti syndrome"

Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3849) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T20:54:01.175Z