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Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Disease Export to PDF
Name:
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Description:
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
ORPHAcode:
2196
Synonyms:
FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome
Meier-Blumberg-Imahorn syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
CLDN19
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