Donohue syndrome
Also known as Leprechaunism, leprechaunism, insulin receptor, defect 1N.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.
Leprechaunism, leprechaunism, insulin receptor, defect 1N
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.