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Disease

Noonan syndrome

Late-stage therapeutic development
Also known as Noonan's syndrome, Turner's phenotype, karyotype normal, Noonan-Ehmke syndrome, Ullrich-Noonan syndrome+1 more

Noonan's syndrome, Turner's phenotype, karyotype normal, Noonan-Ehmke syndrome, Ullrich-Noonan syndrome, pseudo-Ullrich-Turner syndrome.

9
Clinical trials
12
Associated genes
12
Related proteins
Current focus
Beta-arrestin-1 biologyGtpase kras biologyTherapeutic development

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 1 clinical trial expected to report results, the earliest in Q1 2027.
Upcoming Milestones
Clinical Milestones3View
Results posted 1
Results expected 1
Recently completed 1
Activity timeline3

Clinical trials

7 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
9
All trials
5
Active
5
Late-stage
3
Completed
Late-stage studies

A Study Evaluating the Safety and Efficacy of Once-weekly Dosing of Somapacitan in a Basket Study Design in Paediatric Participants With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome or Idiopathic Short Stature

Phase 3 · Active, not recruiting · Novo Nordisk A/S

A Study Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® as Well as Evaluating Long-term Safety of Somapacitan in a Basket Study Design in Children With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome, or Idiopathic Short Stature

Phase 3 · Active, not recruiting · Novo Nordisk A/S

Treatment With HMG-COA Reductase Inhibitor (Simvastatin) of Growth and Bone Abnormalities in Children With Noonan Syndrome: A Phase III Randomised, Double Blind, Placebo-controlled Therapeutic Trial

Phase 3 · Completed · University Hospital, Toulouse

A 52-week, Multi-centre, Randomised, Double-blind, Parallel-group, no Treatment Controlled (Open-label) Trial Investigating the Efficacy and Safety of Two Doses of NN-220 in Short Stature With Noonan Syndrome

Phase 3 · Completed · Novo Nordisk A/S

Effect of the Growth Hormone MAXOMAT ® on the Growth of Small Children and Adolescents (<-2 SD) Due to NOONAN's Syndrome

Phase 3 · Completed · Sanofi

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

PTPN110.88SOS10.87RAF10.87LZTR10.84RIT10.84BRAF0.84KRAS0.83NRAS0.83SOS20.82RRAS20.78HRAS0.68MAPK10.67

Disease biology

12 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Tyrosine-protein phosphatase non-receptor type 11via PTPN110.88RAF proto-oncogene serine/threonine-protein kinasevia RAF10.87Serine/threonine-protein kinase B-rafvia BRAF0.84GTPase KRasvia KRAS0.83Dual specificity mitogen-activated protein kinase kinase 1via MAP2K10.67Dual specificity mitogen-activated protein kinase kinase 2via MAP2K20.65Serine/threonine-protein kinase A-Rafvia ARAF0.54Proto-oncogene tyrosine-protein kinase Srcvia SRC0.54Beta-arrestin-1via ARRB10.53Beta-arrestin-2via ARRB20.53Integrin alpha-IIbvia ITGA2B0.53Integrin beta-3via ITGB30.53

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.

Synonyms

Noonan's syndrome, Turner's phenotype, karyotype normal, Noonan-Ehmke syndrome, Ullrich-Noonan syndrome, pseudo-Ullrich-Turner syndrome

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.