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Autosomal recessive proximal renal tubular acidosis

Disease Export to PDF
Name:
Autosomal recessive proximal renal tubular acidosis
Description:
A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present.
ORPHAcode:
93607
Synonyms:
AR pRTA
Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
SLC4A4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Tubulopathy/Nephrolithiasis (106 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY10 100.00 1 NM_018417.6
    AGXT 100.00 1 NM_000030.3
    ALDOB 100.00 1 NM_000035.4
    ALPL 100.00 1 NM_000478.6
    AP2S1 100.00 1 NM_004069.6
    AQP2 100.00 1 NM_000486.6
    ATP6V0A4 100.00 1 NM_020632.3
    ATP6V1B1 100.00 1 NM_001692.4
    ATP7B 100.00 1 NM_000053.4
    AVPR2 100.00 1 NM_000054.7
    BSND 100.00 1 NM_057176.3
    CASR 100.00 1 NM_000388.4
    CLCN5 100.00 1 NM_001127898.4
    CLCNKB 100.00 1 NM_000085.5
    CLDN10 100.00 1 NM_006984.5
    CLDN16 100.00 1 NM_006580.4
    CLDN19 100.00 1 NM_148960.3
    CNNM2 100.00 1 NM_017649.5
    CTNS 100.00 1 NM_004937.3
    CUL3 100.00 1 NM_003590.5
    CYP24A1 100.00 1 NM_000782.5
    EGF 100.00 1 NM_001963.6
    EGFR 100.00 1 NM_005228.5
    EHHADH 100.00 1 NM_001966.4
    FAH 100.00 1 NM_000137.4
    FAN1 100.00 1 NM_014967.5
    FGF23 100.00 1 NM_020638.3
    FXYD2 100.00 1 NM_001680.5
    G6PC1 100.00 1 NM_000151.4
    GALT 100.00 1 NM_000155.4
    GATM 100.00 1 NM_001482.3
    GNA11 100.00 1 NM_002067.5
    GRHPR 100.00 1 NM_012203.2
    HNF1B 100.00 1 NM_000458.4
    HOGA1 100.00 1 NM_138413.4
    HSD11B2 100.00 1 NM_000196.4
    KCNJ1 100.00 1 NM_153766.3
    KCNJ10 100.00 1 NM_002241.5
    KLHL3 100.00 1 NM_017415.3
    MAGED2 100.00 1 NM_177433.3
    NR3C2 100.00 1 NM_000901.5
    OCRL 100.00 1 NM_000276.4
    PCBD1 100.00 1 NM_000281.4
    PHEX 100.00 1 NM_000444.6
    REN 100.00 1 NM_000537.4
    SCNN1A 100.00 1 NM_001038.6
    SCNN1B 100.00 1 NM_000336.3
    SCNN1G 100.00 1 NM_001039.4
    SEC61A1 100.00 1 NM_013336.4
    SLC12A1 100.00 1 NM_000338.3
    SLC12A3 100.00 1 NM_001126108.2
    SLC2A2 100.00 1 NM_000340.2
    SLC34A1 100.00 1 NM_003052.5
    SLC34A3 100.00 1 NM_001177316.2
    SLC3A1 100.00 1 NM_000341.4
    SLC4A1 100.00 1 NM_000342.4
    SLC4A4 100.00 1 NM_001098484.3
    SLC5A2 100.00 1 NM_003041.4
    SLC7A9 100.00 1 NM_014270.5
    NHERF1 100.00 1 NM_004252.5
    TRPM6 100.00 1 NM_017662.5
    UMOD 100.00 1 NM_003361.4
    VDR 100.00 1 NM_000376.3
    VIPAS39 100.00 1 NM_001193315.2
    VPS33B 100.00 1 NM_018668.5
    WNK1 100.00 1 NM_018979.4
    WNK4 100.00 1 NM_032387.5
    AGTR1 100.00 1 NM_000685.5
    APRT 100.00 1 NM_000485.3
    CA2 100.00 1 NM_000067.3
    CACNA1H 100.00 1 NM_021098.3
    CLCN2 100.00 1 NM_004366.6
    CLCNKA 100.00 1 NM_004070.4
    CYP11B1 100.00 1 NM_000497.4
    CYP17A1 100.00 1 NM_000102.4
    DMP1 100.00 1 NM_004407.4
    ENPP1 100.00 1 NM_006208.3
    FANCA 100.00 1 no
    FAM20A 100.00 1 NM_017565.4
    FOXI1 100.00 1 NM_012188.5
    HNF1A 100.00 1 NM_000545.8
    HNF4A 100.00 1 NM_175914.5
    HPRT1 100.00 1 NM_000194.3
    KCNJ16 100.00 1 NM_170741.4
    KCNJ5 100.00 1 NM_000890.5
    KL 100.00 1 NM_004795.4
    LAGE3 100.00 1 NM_006014.5
    LDHD 100.00 1 NM_194436.3
    LRP2 100.00 1 NM_004525.3
    MEN1 100.00 1 NM_001370259.2
    MOCOS 100.00 1 NM_017947.4
    PRPS1 100.00 1 NM_002764.4
    SLC16A12 100.00 1 NM_213606.4
    SLC22A12 100.00 1 NM_144585.4
    SLC2A9 100.00 1 NM_020041.3
    SLC36A2 100.00 1 NM_181776.3
    SLC5A1 100.00 1 NM_000343.4
    SLC6A19 100.00 1 NM_001003841.3
    SLC6A20 100.00 1 NM_020208.4
    WDR72 100.00 1 NM_182758.4
    WFS1 100.00 1 NM_006005.3
    XDH 100.00 1 NM_000379.4
    AGT 100.00 1 NM_001384479.1
    CDC73 100.00 1 NM_024529.5
    RRAGD 100.00 1 NM_021244.5
    SLC26A1 100.00 1 NM_022042.4
    SLC41A1 100.00 1 NM_173854.6