Disease #00160 (DRTA (Recessive Distal Renal Tubular Acidosis), OMIM:611590)

Official abbreviation DRTA
Name Recessive Distal Renal Tubular Acidosis
OMIM ID 611590
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SLC4A1
Associated tissues -
Disease features -
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00000793 Keng E Choo et al.(2006) M Sarawak Iban-Chinese - patient had Southeast Asian ovalocytosis (SAO) - DRTA He was a pale and wasted child weighing 9.4 kg, who was hypotonic and too weak to stand, with a palpable spleen, but no clinical evidence of bone disease. SLC4A1 SLC4A1 4 1 Nur Aisyah Athirah
00000794 Keng E Choo et al.(2006) M Sarawak Iban - patients had Southeast Asian ovalocytosis (SAO) - DRTA He had frequent episodes skin sepsis associated with scabies. At the age of 10.5 years, hepatosplenomegaly was still present and his sclerae were slightly icteric. Although there was no clinical evidence of bone disease and acidosis was corrected, growth was still markedly retarded. SLC4A1 SLC4A1 3 1 Nur Aisyah Athirah
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