Diabetes Insipidus, Neurohypophyseal Type

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Retrieved

2019-09-22

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Omim

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Genes

AVP, WFS1, BRAF, TP63, SHH, NAPSA, ACOT8, NCKAP1, NAP1L1, TRMO, MAGEL2, AZI2, CTNNB1, NAA25, CXCL8, TAB3, MTFMT, ALB, AVPR2, ATP4A, ATP12A, AQP2, INSRR, TNF, ACAD8, PIK3CB, SLC9A3, H6PD, NRP2, PIK3CD

AVP, WFS1, BRAF, TP63, SHH, NAPSA, ACOT8, NCKAP1, NAP1L1, TRMO, MAGEL2, AZI2, CTNNB1, NAA25, CXCL8, TAB3, MTFMT, ALB, AVPR2, ATP4A, ATP12A, AQP2, INSRR, TNF, ACAD8, PIK3CB, SLC9A3, H6PD, NRP2, PIK3CD, PIK3CG, NPTX2, CRYL1, GLUD1, IL23A, PIK3CA, CYP2E1, UGDH, CRP, RPH3A, ATP6AP2, ROPN1L, ATG5, RTCA, COPD, EOS, ASPM, SYNM, WDHD1, GPR182, CLVS1, CABIN1, PLA2G15, SUMF2, FGF21, VEGFA, CD274, A1CF, IL22, MBL3P, MARCHF1, ACSS2, ACCS, ACR, MOK, UROD, TRH, IL1B, HCFC1, GZMM, GAP43, FYN, FBN2, EPHB2, EMP1, SLC26A3, CALCA, C3, ATP7B, ASPH, ASPA, ASIP, AKT1, AHR, IL2, IL4, IL15, PRKCD, TIMP2, TFAP2B, SEL1L, CCL3, RPS20, AGER, MAPK1, POMC, IL17A, PCSK1, NFKB2, MMP13, MBL2, MAX, LEPR, CXCL10, BTBD8

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In addition to the X-linked forms of diabetes insipidus, autosomal dominant forms also exist. Forssman (1955) had 5 families: 2 probably autosomal and 3 X-linked. Of the 3 X-linked families, 1 was of the pitressin-resistant type, whereas the other 2 families were susceptible. The latter 2 families presumably represent the neurohypophyseal type. Green et al. (1967) reported a family with diabetes insipidus in a dominant pattern, either X-linked or autosomal. Autopsy in one of the affected members showed marked reduction of neurons in the supraoptic and paraventricular nuclei of the hypothalamus. Breast feeding was normal in one of these patients, despite the virtual absence of hypothalamic nuclei thought to be responsible for production of oxytocin which is considered essential for breast feeding.

The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone (ADH; 192340), is weak.