Disease #02437 (RTADR (acidosis, tubular, renal, distal, autosomal recessive (RTADR)), OMIM:602722)

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 12
Phenotype entries for this disease 12
Associated with 1 gene ATP6V0A4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2015-12-18 05:43:30 +01:00 (CET)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
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00056391 - PubMed: Kose 2014, Journal: Kose 2014 - F yes Turkey - >18y - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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 - - 1 Johan den Dunnen
00056401 - PubMed: Smith 2000, Journal: Smith 2000 family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - >03y - - - 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 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - RTADR Renal tubular acidosis, distal, autosomal recessive (OMIM:602722) ATP6V0A4 ATP6V0A4 1 1 Daniel Trujillano
00305901 16 - - F - China - - - - - RTADR - ATP6V0A4 ATP6V0A4 1 1 Sha Hong
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