View individual #00000161

Reference Sahakitrungruang et al. (2008)
Gender F
Geographic origin -
Ethnic origin Thai
Remarks Nuclear family with one affected child.
Panel size 1
Diseases NDI-AQP2
Owner name LOVD


Phenotypes

Nephrogenic diabetes insipidus (NDI-AQP2)   Add phenotype for this disease

AscendingPhenotype ID     

Age examined     

Phenotype details     

Inheritance     

Owner     
0000000185 06y Polyuria & polydipsia within the first few months of life; failure to thrive at 6 mo. Basal serum sodium 137 mmol/L, urine/serum osmolality 25/274 mosmol/kg, urine output 130 ml/hr. After water deprivation test urine/serum osmolality 32/290 mosmol/kg. No increase in urine osmolality after nasal dDAVP administration. Familial, autosomal recessive LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000162 DNA SEQ AQP2 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     
12 Maternal (confirmed) g.49950833G>T p.(Met1Ile) Sahakitrungruang et al. (2008) AQP2_000016 - Variant found in mother and affected child. Not found in 100 control chromosomes. LOVD AQP2 +?/+ 1 NM_000486.5:c.3G>T - r.(?) p.(?)
12 Paternal (confirmed) g.49950915G>A - Sahakitrungruang et al. (2008) AQP2_000017 - Variant found in father and affected child. Not found in 100 control chromosomes. LOVD AQP2 +?/+ 1 NM_000486.5:c.85G>A - r.(?) p.(Gly29Ser)
Legend