View individual #00000186

Reference Hochberg et al. (1997)
Gender -
Geographic origin -
Ethnic origin Arab-Bedouin
Remarks 7-generation family with 6 affected individuals (3 deceased). Possibly shared common ancestor to 3 families (G, H, K) in Hochberg et al. (1997).
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     
0000000210 - Data for 11 affected individuals: neonatal fever & vomiting (6/11); failure to thrive (4/11); urine output 161-250 ml/kg/Day; urine osmolality 42-102 mosmol/kg; plasma osmolality 296-326 mosmol/kg; serum Na 147-168 mEq/L; lack of response to vasopressin; fetal distress (3/5); slow psychomotor development & mental retardation (6/11). dDAVP infusion test in 7 patients (5 controls) and Factor VIII measured (30 controls). Familial, autosomal recessive LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000187 DNA SSCA AQP2 1 LOVD



Variants

1 entry on 1 page. Showing entry 1.
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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 Both (homozygous) g.49951128G>T - Hochberg et al. (1997) AQP2_000041 - Variant found homozygous in 3 affected siblings and heterozygous in their parents. LOVD AQP2 +?/+ 1 NM_000486.5:c.298G>T - r.(?) p.(Gly100*)
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