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Disease

Proteus syndrome

Active therapeutic pipeline
Also known as Wiedemann's syndrome, partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, proteus syndrome, somatic, Elattoproteus syndrome+3 more

Wiedemann's syndrome, partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, proteus syndrome, somatic, Elattoproteus syndrome, gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly, hemihypertrophy and macrocephaly, partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly.

4
Clinical trials
1
Associated genes
1
Related proteins

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 with recent milestones.
Major developments
Major clinical milestoneImportant
A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus Syndrome
Primary completion2026-06-25
Clinical Milestones1View
Recently completed 1
Activity timeline1

Clinical trials

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

The current development programme across all trial phases.

Clinical programme
4
All trials
2
Active
0
Late-stage
1
Completed
Recently completed

Phase 1 Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome

Phase 1 · Completed · National Human Genome Research Institute (NHGRI)

Associated genes

1 match

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

AKT10.76

Disease biology

1 match

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

RAC-alpha serine/threonine-protein kinasevia AKT10.76

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called elephant man, apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.

Synonyms

Wiedemann's syndrome, partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, proteus syndrome, somatic, Elattoproteus syndrome, gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly, hemihypertrophy and macrocephaly, partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly

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.