Leprechaunism (Donohue syndrome, DS) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly. The disease is known as leprechaunism because infants with the disease show an elf-like face and short stature.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Other disorders of glucose regulation or pancreatic internal secretion
5A44 Insulin-resistance syndromes
H00719 Leprechaunism
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00719 Leprechaunism
Leprechaunism/Donohue syndrome/insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.
Rabson-Mendenhall syndrome (RMS) is a rare disorder involving severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can include acanthosis nigricans, polycystic ovarian disease, hirsutism, precocity, pineal hyperplasia, and thick nails.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Other disorders of glucose regulation or pancreatic internal secretion
5A44 Insulin-resistance syndromes
H00942 Rabson-Mendenhall syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H00942 Rabson-Mendenhall syndrome
DISEASE: Insulin-resistant diabetes mellitus with acanthosis nigricans
Entry
H01228 Disease
Name
Insulin-resistant diabetes mellitus with acanthosis nigricans; Type A insulin resistance
Description
Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes that result from metabolic abnormalities associated with mutations of the insulin receptor (INSR) gene, characterized by phenotypic description of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism. Other phenotype of IRAN form includes hirsutism and polycystic ovarian disease in a patient who is usually not obese. There is no distinctive serum marker. Leprechaunism [DS:H00719] and the Rabson-Mendenhall syndrome [DS:H00942] also have mutations in INSR with subsequent alterations in insulin receptor function and extreme insulin resistance.
Category
Metabolic disease; Endocrine disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Diabetes mellitus
5A13 Diabetes mellitus, other specified type
H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06325 Hormone/cytokine signaling
H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans
Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects in the regulation of insulin secretion. Seven different loci have been associated with hyperinsulinism: ABCC8, KCNJ11, HADHSC, GCK, GLUD1, SLC16A1, and INSR. Mutations of these loci have significant differences in phenotype and inheritance pattern. The most common genes associated with hyperinsulinism, involve the ABCC8 and KCNJ11 genes that encode the two subunits of the beta-cell ATP-dependent potassium channel. Recessive mutations of these genes cause a severe form of neonatal hypoglycemia that frequently requires near-total pancreatectomy. Diazoxide, a drug that acts as an agonist of the ATP-dependent potassium channel to suppress insulin secretion, is effective in defects associated with mutations of GLUD1 and HADHSC. Diazoxide is often ineffective in mutations of the ATP- dependent potassium channel and may not adequately control hypoglycemia in GCK or SLC16A1 mutations.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Other disorders of glucose regulation or pancreatic internal secretion
5A45 Persistent hyperinsulinaemic hypoglycaemia of infancy
H01267 Familial hyperinsulinemic hypoglycemia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H01267 Familial hyperinsulinemic hypoglycemia
Endocrine system
nt06325 Hormone/cytokine signaling
H01267 Familial hyperinsulinemic hypoglycemia
Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, Parton LE, Schuit F, Quintens R, Sipila I, Mayatepek E, Meissner T, Halestrap AP, Rutter GA, Kere J
Title
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells.
