View disease #00002

Official abbreviation NDI-AQP2
Name Nephrogenic diabetes insipidus
OMIM ID 125800
Individuals reported having this disease 43
Phenotype entries for this disease 42
Associated with 1 gene AQP2
Associated tissues kidney
Disease features -
Remarks -


Individuals

43 entries on 1 page. Showing entries 1 - 43.
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AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Disease     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000144 Duzenli et al. (2012) M - Turkish One of 15 Turkish patients with nephrogenic or neurohypophyseal DI. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000145 Bircan et al. (2008) M - - Nuclear non-consanguineous family with one affected child. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000146 Tajima et al. (2003) M - Japanese Member of a nuclear non-consanguineous family with 1 affected and 1 unaffected sibling. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000147 Boccalandro et al. (2004) M - Mexican Member of a 4-generation family with 25 individuals (4 affected, 21 unaffected) from a small town northeast of Monterrey, Mexico. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000149 Langley et al. (1991), Bichet et al. (2012) F - Pakastani Member of a 4-generation family with data on 5 individuals (2 affected, 3 unaffected) with consanguinity. Parents are first cousins. NDI-AQP2 AQP2 AQP2 1 1 Dr. Daniel Bichet
00000150 Bichet et al. (2012) M - Pakastani Member of 3-generation family with data on 6 individuals (2 affected, 4 unaffected). NDI-AQP2 AQP2 AQP2 1 1 Dr. Daniel Bichet
00000151 Bichet et al. (2012) M - Pakastani Member in a 3-generation family with data on 3 individuals (1 affected son and both unaffected parents) with consanguinity. NDI-AQP2 AQP2 AQP2 1 1 Dr. Daniel Bichet
00000153 Pasel et al. (2000) F - Turkish Nuclear consanguineous family with one affected and 2 unknown offspring. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000154 Shalev et al. (2004) F - Bedouin Arbitrary member of a 4-generation consanguineous family with 9 affected in 5 families in the fourth generation. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000155 Vargas-Poussou et al. (1997) F - Turkish Member of a 5-generation consanguineous family with one affected individual. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000156 Vargas-Poussou et al. (1997) M Europe Caucasian Nuclear family with one affected, one unaffected offspring. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000157 Carroll et al. (2006) - Saudi Arabia - Nuclear consanguineous family with 2 unaffected parents, 3 affected (one female, 2 male), and one unaffected offspring. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000158 Carroll et al. (2006) M Saudi Arabia - Nuclear family with 2 unaffected parents and 1 unaffected male offspring. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000159 Cheong et al. (2005) F Korea - Nuclear family with one affected child. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000160 Park et al. (2014) M Korea - Nuclear family with data on one affected child. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000161 Sahakitrungruang et al. (2008) F - Thai Nuclear family with one affected child. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000162 Rugpolmuang et al. (2014) M - Asian Affected child of first-cousin mating. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000163 Rugpolmuang et al. (2014) F - Asian Two affected children in mating of first cousins. Father and two siblings affected. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000164 Liberatore et al. (2012) F - Brazilian Nuclear family with one affected and one unaffected child. NDI-AQP2 AQP2 AQP2 3 1 LOVD
00000165 Moon et al. (2009) M (Korea) - Isolated case. No data to confirm autosomal inheritance or lack of detection of a second AQP2 mutation. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000166 Tsutsumi et al. (2009) F (Japan) - Nuclear family with 2 affected children. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000167 Iolascon et al. (2007) M (Italy) - Nuclear family with one affected, one unaffected child. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000168 Guyon et al. (2009) M (Canada) - 3-generation family with data on 3 affected males (including one pair of twins) and 9 unaffected individuals. NDI-AQP2 AQP2 AQP2 3 1 Dr. Daniel Bichet
00000169 Leduc-Nadeau et al. (2010) M (Canada) - Nuclear family with two affected, one unaffected children. NDI-AQP2 AQP2 AQP2 2 1 Dr. Daniel Bichet
00000170 Leduc-Nadeau et al. (2010) F (Canada) - 3-generation family with data on one affected, 8 unaffected individuals. NDI-AQP2 AQP2 AQP2 2 1 Dr. Daniel Bichet
00000171 Canfield et al. (1997) F - Caucasian Nuclear family with data on one affected, 2 unaffected offspring, and parents. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000172 Deen et al. (1994);Deen et al. (1995) M (Netherlands) - Nuclear family with one affected and 2 unaffected offspring. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000173 de Mattia et al. (2004) M - - 3-generation family with data on one affected and 4 unaffected individuals. NDI-AQP2 AQP2 AQP2 2 1 Dr. Daniel Bichet
00000174 de Mattia et al. (2004) F - - 3-generation family with data on one affected, 3 unaffected individuals. NDI-AQP2 AQP2 AQP2 2 1 Dr. Daniel Bichet
00000175 de Mattia et al. (2005) M (Netherlands) - Nuclear family with one affected offspring with deceased affected father. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000176 van Lieburg et al. (1994);Deen et al. (1995) M - Dutch 5-generation consanguineous family with data on one affected individual, his mother, and a sibling. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000177 van Lieburg et al. (1994);Deen et al. (1995) F - Italian 4-generation consanguineous family with data on affected individual and mother. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000178 van Lieburg et al. (1994);Deen et al. (1995) M - Palestinian 4-generation consanguineous family with data on one affected individual, 4 unaffected siblings, and their parents. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000179 Goji et al. (1998);Kuwahara (1998) F - Japanese Nuclear family with 2 affected offspring. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000180 Kuwahara (1998) M (Japan) - Nuclear family with one affected individual. NDI-AQP2 AQP2 AQP2 2 1 LOVD
00000181 Kuwahara et al. (2001);Ohzeki et al. (1984) M - Japanese Member of a 4-generation family with data on 3 affected and 1 unaffected individual. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000182 Kuwahara et al. (2001) F - Japanese Nuclear family with data on 1 affected and her parents. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000183 - M - Japanese Member of a 4-generation family with data on one affected individual, his parents and brother. NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000184 Hochberg et al. (1997) F - Arab-Bedouin Member of a 7-generation family with data on 5 affected individuals and their parents. Parents of proband are first cousins. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000185 Hochberg et al. (1997) F - Arab-Bedouin Member of 7-generation consanguineous family with data on 3 affected individuals and their parents. Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000186 Hochberg et al. (1997) - - Arab-Bedouin 7-generation family with 6 affected individuals (3 deceased). Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997). NDI-AQP2 AQP2 AQP2 1 1 LOVD
00000187 Lin et al. (2002) M - Chinese Nuclear family with 2 affected, 2 unaffected offspring. Not known to be related to Family-2 which carries the same two AQP2 variants. NDI-AQP2 AQP2 AQP2 2 1 Dr. Daniel Bichet
00000188 Lin et al. (2002) - - Chinese Data on 3-generation family with 2 affected, 1 unaffected offspring. Not known to be related to Family-1 which carries the same two AQP2 variants. NDI-AQP2 AQP2 AQP2 2 1 Dr. Daniel Bichet
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