Disease #02437

Official abbreviation RTADR
Name acidosis, tubular, renal, distal, autosomal recessive (RTADR)
OMIM ID 602722
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
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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