Belgian Genetic Tests database- Diseases
- Childhood-onset hypophosphatasia
Childhood-onset hypophosphatasia
| Name: |
Childhood-onset hypophosphatasia
|
| Description: |
A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.
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| ORPHAcode: |
247667
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| Synonyms: |
Childhood-onset Rathbun disease
Childhood-onset phosphoethanolaminuria
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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