Disease #02437

Official abbreviation RTADR
Name acidosis, tubular, renal, distal, autosomal recessive (RTADR)
OMIM ID 602722
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene ATP6V0A4
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00056391 - PubMed: Kose 2014, Journal: Kose 2014 - F yes Turkey - >18y 0 - - RTADR, SNHL see paper, extensive description, see paper; extensive description ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056393 - PubMed: Smith 2000, Journal: Smith 2000 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - >10y 0 - - RTADR no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.12, serum HCO3- 11.0mM, serum K+ 3.1mM, urine pH 7.0 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056394 - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >06y06m 0 - - RTADR no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 5.5mM, serum K+ 2.4mM, urine pH 8.0 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056395 - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - >22y 0 - - RTADR history of rickets (HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.25, serum HCO3- 12.0mM, serum K+ 32.7mM, urine pH 7.6 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056396 - PubMed: Smith 2000, Journal: Smith 2000 5-generation family, 1 affected, unaffected heterozygous carrier parents/sib M yes Turkey - >14y 0 - - RTADR no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 12.0mM, serum K+ 2.8mM, urine pH 7.5 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056397 - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - >04y 0 - - RTADR history of rickets (HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.23, serum HCO3- 16.0mM, serum K+ 2.1mM, urine pH 6.8 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056398 - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >11y 0 - - RTADR no history of rickets (-HP:0002748), no hypercalciuria (-HP:0002150), arterial pH 7.10, serum HCO3- 5.5mM, serum K+ 2.2mM, urine pH 7.0 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056399 - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - >13y 0 - - RTADR no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.21, serum HCO3- 14.0mM, serum K+ 2.8mM, urine pH 7.5 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00056400 - PubMed: Smith 2000, Journal: Smith 2000 family, >1 affected, unaffected heterozygous carrier parents F no Turkey - >08y 0 - - RTADR no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.20, serum HCO3- 7.6mM, serum K+ 3.0mM, urine pH 7.0 ATP6V0A4 - 0 1 Johan den Dunnen
00056401 - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >03y 0 - - RTADR history of rickets (HP:0002748), no hypercalciuria (-HP:0002150), arterial pH 7.10, serum HCO3- 6.1mM, serum K+ 2.1mM, urine pH 7.0 ATP6V0A4 ATP6V0A4 1 1 Johan den Dunnen
00080997 - Trujillano et al., submitted unaffected parents - - - - - 0 - - RTADR Renal tubular acidosis, distal, autosomal recessive (OMIM:602722) ATP6V0A4 ATP6V0A4 1 1 Daniel Trujillano
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