View individual #00000178

Reference van Lieburg et al. (1994);Deen et al. (1995)
Gender M
Geographic origin -
Ethnic origin Palestinian
Remarks 4-generation consanguineous family with data on one affected individual, 4 unaffected siblings, and their parents.
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     
0000000202 00y07m At 6 weeks presented with feeding difficulties, insufficient weight gain, and fever. Seen at 7 mo severely dehydrated (sodium 186 mmol/L, urine/serum osmolality 150/429 mosmol/kg). Fluid intake 7-10 L/Day as an adult. Familial, autosomal recessive LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000179 DNA SEQ AQP2 1 LOVD



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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 Both (homozygous) g.49954163del - van Lieburg et al. (1994);Deen et al. (1995) AQP2_000036 - Variant found in affected individual, 3-of-4 unaffected siblings, and in both parents. LOVD AQP2 +?/+ 2 NM_000486.5:c.369del - r.(?) p.(Asn123Lysfs*9)
Legend