Belgian Genetic Tests database- Diseases
- Autosomal recessive infantile hypercalcemia
Autosomal recessive infantile hypercalcemia
| Name: |
Autosomal recessive infantile hypercalcemia
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| Description: |
A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.
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| ORPHAcode: |
300547
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| Synonyms: |
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AIRE 95.00 0 NM_000383.4/ interpretable range CS1>95% ALPL 95.00 0 NM_000478.6/ interpretable range CS1>95% AP2S1 95.00 0 NM_004069.6/ interpretable range CS1>95% CASR 95.00 0 NM_000388.4/ interpretable range CS1>95% CDC73 95.00 0 NM_024529.5/ interpretable range CS1>95% CDKN1B 95.00 0 NM_004064.5/ interpretable range CS1>95% CLCN5 95.00 0 NM_000084.5/ interpretable range CS1>95% CYP27B1 95.00 0 NM_000785.4/ interpretable range CS1>95% CYP2R1 95.00 0 NM_024514.5/ interpretable range CS1>95% DMP1 95.00 0 NM_004407.4/ interpretable range CS1>95% ENPP1 95.00 0 NM_006208.3/ interpretable range CS1>95% FAM20C 95.00 0 NM_020223.4/ interpretable range CS1>95% FGF23 95.00 0 NM_020638.3/ interpretable range CS1>95% GATA3 95.00 0 NM_001002295.2/ interpretable range CS1>95% GCM2 95.00 0 NM_004752.4/ interpretable range CS1>95% GNA11 95.00 0 NM_002067.5/ interpretable range CS1>95% GNAS 95.00 0 NM_000516.7/ interpretable range CS1>95% HADHA 95.00 0 NM_000182.5/ interpretable range CS1>95% HADHB 95.00 0 NM_000183.3/ interpretable range CS1>95% MEN1 95.00 0 NM_130799.3/ interpretable range CS1>95% OCRL 95.00 0 NM_000276.4/ interpretable range CS1>95% PHEX 95.00 0 NM_000444.6/ interpretable range CS1>95% PTH 95.00 0 NM_000315.4/ interpretable range CS1>95% PTH1R 95.00 0 NM_000316.3/ interpretable range CS1>95% RET 95.00 0 NM_020975.6/ interpretable range CS1>95% SLC34A1 95.00 0 NM_003052.5/ interpretable range CS1>95% SLC34A3 95.00 0 NM_080877.3/ interpretable range CS1>95% NHERF1 95.00 0 NM_004252.5/ interpretable range CS1>95% STX16 95.00 0 NM_001001433.3/ interpretable range CS1>95% TBCE 95.00 0 NM_003193.5/ interpretable range CS1>95% VDR 95.00 0 NM_001017535.2/ interpretable range CS1>95% -
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