Search Result

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Entry	Name	Description	Category	Gene
H00568	Myotonic dystrophy	... affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly ...	Nervous system disease; Musculoskeletal disease	(DM1) DMPK [HSA:1760] [KO:K08788] (DM2) CNBP [HSA:7555] [KO:K09250]
H00719	Leprechaunism Donohue syndrome	Leprechaunism (Donohue syndrome, DS) is an autosomal recessive disorder of insulin-resistance characterized by intrauterine and postnatal growth retardation, acanthosis nigricans, lipoatrophy, and genitomegaly ...	Endocrine and metabolic disease	INSR [HSA:3643] [KO:K04527]
H00942	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 ...	Endocrine and metabolic disease	INSR [HSA:3643] [KO:K04527]
H01228	Insulin-resistant diabetes mellitus with acanthosis nigricans Type A insulin resistance	... 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 ...	Metabolic disease; Endocrine disease	INSR [HSA:3643] [KO:K04527]
H01267	Familial hyperinsulinemic hypoglycemia	... 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 ...	Inherited metabolic disorder	(HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032] (HHF2) KCNJ11 [HSA:3767] [KO:K05004] (HHF3) GCK [HSA:2645] [KO:K12407] (HHF4) HADH [HSA:3033] [KO:K00022] (HHF5) INSR [HSA:3643] [KO:K04527] (HHF6) GLUD1 [HSA:2746] [KO:K00261] (HHF7) SLC16A1 [HSA:6566] [KO:K08179] (HHF8) SLC25A36 [HSA:55186] [KO:K15116]

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