Details of Disease | DrugMAP

General Information of Disease (ID: DISRZHB5)

Disease Name	Neurohypophyseal diabetes insipidus
Synonyms	neurogenic diabetes insipidus; diabetes insipidus, cranial type; diabetes insipidus, primary central; hereditary central diabetes insipidus; diabetes insipidus, neurohypophyseal; diabetes insipidus of pituitary gland; Arginine vasopressin deficiency; pituitary gland diabetes insipidus; AVP deficiency; hereditary CDI; hereditary neurogenic diabetes insipidus; pituitary diabetes insipidus; antidiuretic hormone deficiency; vasopressin deficiency; ADH deficiency; vasopressin defective diabetes insipidus
Definition	Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
Disease Hierarchy	DIS7XB48: Pituitary gland disorder DISD715V: Hereditary neurological disease DISNCQLA: Inherited kidney disorder DIS3HIWD: Autosomal dominant disease DIS0U6CJ: Diabetes insipidus DISJ4P9O: Central diabetes insipidus DISRZHB5: Neurohypophyseal diabetes insipidus
Disease Identifiers	MONDO ID MONDO_0007450 UMLS CUI C0342394 MedGen ID 574999 Orphanet ID 30925 SNOMED CT ID 237696003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AVP	TTJ8EWH	Strong	Autosomal dominant	[1]
AVP	TTJ8EWH	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AVP	OTAVZ76K	Strong	Autosomal dominant	[1]
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References

1	Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. Int J Mol Med. 2016 Oct;38(4):1243-9. doi: 10.3892/ijmm.2016.2703. Epub 2016 Aug 11.
2	AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus.Pituitary. 2015 Dec;18(6):898-904. doi: 10.1007/s11102-015-0668-z.