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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 7480 diabetes insipidus, neurohypophyseal type Eponyms: Inheritance: arginine vasopressin-neurophysin deficiency AVP AVRP diabetes insipidus cranial type diabetes insipidus idiopathic diabetes insipidus primary central diabetes insipidus, familial central neurophysin II NPII VP ADNDI autosomal dominant genetic heterogeneity X-linked recessive Semeiological Endocrino-neurological disorder. Polydipsia, polyuria, low urine osmolarity, growth retardation, mental retardation due to dehydration, responsivity to vasopressin. Synthesis: Group Sub group Signs: ENDOCRINOLOGICAL, METABOLIC DISORDERS hypophysis dysfunction diabetes insipidus LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 20p localization gene, structural-functional anomalies AVRP (VP) (AVP)arginine vasopressin neurophysin II, antidiuretic hormone, gene chr.20p13 gene analysis-DNA analysis pituitary hormones, modified functions vasopressin unresponsivity plasma electrolytes-inorganic constituents, modified functions potassium , low levels (hypokalemia) plasma nonprotein-organic constituents, anomalies uric acid, high levels, hyperuricemia plasma proteins, anomalies hormones, dysfunctions tissue, biochemical changes metabolic alkalosis NEUROLOGICAL DISORDERS behaviour, changes polydipsia mental retardation mental retardation OTHERS inheritance inheritance, autosomal dominant inheritance, genetic heterogeneity inheritance, X-linked recessive supergroups endocrino-neuro disorders endocrino-neuro-skeleto urological disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes diabetes insipidus, neurohypophyseal type Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular SKELETAL DISORDERS stature, growth, modified habitus growth delayed, failure to thrive, growth retardation UROLOGICAL DISORDERS kidney, malformations hydronephrosis renal dysfunctions polyuria Super group: endocrino-neuro disorders endocrino-neuro-skeleto-urological disorders Super aggreg. DIABETES diabetes, insipidus Aggregations: FOETAL CHANGES foetal changes, recognized by laboratory data METABOLIC DISORDERS hormones, dysfunctions metabolic alkalosis Differential diagnosis: Bibliography 6900 7102 7101 27923 26950 27924 cystathioninuria diabetes insipidus, nephrogenic type I diabetes insipidus, nephrogenic type II Schofer syndrome Wolfram syndrome Wolfram syndrome, mitochondrial form OMIM ID: 125700 OMIM ID: 304900 OMIM ID: 192340 J.Clin.Endocr.Metab.83,591-599,1998 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 251 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.19181920,2007 diabetes insipidus, neurohypophyseal type Page 2 of 2
