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Leprechaunism
1 OMIM reference -
1 associated gene
70 connected diseases
37 signs/symptoms
Disease Type of connection
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Rabson-Mendenhall syndrome
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Noonan syndrome
Distal 22q11.2 microdeletion syndrome
Romano-Ward syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Autoimmune lymphoproliferative syndrome
Autosomal recessive hypophosphatemic rickets
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Generalized arterial calcification of infancy
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Metachondromatosis
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Opsismodysplasia
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
T-B+ severe combined immunodeficiency due to CD45 deficiency
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Catecholaminergic polymorphic ventricular tachycardia
1p36 deletion syndrome
Amyotrophic lateral sclerosis
Autosomal recessive malignant osteopetrosis
Cherubism
Congenital stromal corneal dystrophy
Frontotemporal dementia with motor neuron disease
Generalized epilepsy with febrile seizures-plus context
Growth delay due to insulin-like growth factor type 1 deficiency
Helicoid peripapillary chorioretinal degeneration
Juvenile amyotrophic lateral sclerosis
Juvenile myoclonic epilepsy
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Postsynaptic congenital myasthenic syndromes
MODY syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Permanent neonatal diabetes mellitus
Autosomal dominant limb-girdle muscular dystrophy type 1C
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Growth delay due to insulin-like growth factor I resistance
Hemihypertrophy
Pilocytic astrocytoma
Rippling muscle disease
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15
Synonym(s):
- Donohue syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
INSR P06213147670
Very frequent
- Anomalies of ear and hearing
- Autosomal recessive inheritance
- Diabetes mellitus
- Excess nuchal skin without pterygium colli
- Facial dysmorphism
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flared / thick ala nasi
- High vaulted / narrow palate
- Hyperinsulinism / hyperinsulinemia
- Hypertelorism
- Hypoglycemia
- Insulin-independent / type 2 diabetes
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Long / large ear
- Low set ears / posteriorly rotated ears
- Macropenis / megapenis / large penis
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Proptosis / exophthalmos
- Repeat respiratory infections
- Short stature / dwarfism / nanism
- Thick lips
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Delayed bone age
- Depressed nasal bridge
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hepatitis / icterus / cholestasis
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Lipoatrophy
- Umbilical hernia

Occasional
- Absent / hypotonic / flaccid abdominal wall muscles
- Microcephaly
- Undescended / ectopic testes / cryptorchidia / unfixed testes