CA12, carbonic anhydrase 12, 771

N. diseases: 81; N. variants: 7
Disease: Hyponatraemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0857122
Disease: Hyponatraemic
Hyponatraemic 		0.010 GeneticVariation disease BEFREE Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy. 29750650 2018