- Diseases
- Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1B
Name: |
Pseudohypoparathyroidism type 1B
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Description: |
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
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ORPHAcode: |
94089
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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% -
Thyroid disgenesis (38 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AP2S1 100.00 0 No comment CASR 100.00 0 No comment CDCA8 100.00 0 No comment DUOX1 100.00 0 No comment DUOX2 100.00 0 No comment DUOXA2 100.00 0 No comment DYRK1A 100.00 0 No comment ELN 100.00 0 No comment FOXE1 60.48 0 No comment GAS1 62.99 0 No comment GLIS3 100.00 0 No comment GNA11 99.51 0 No comment GNAS 98.96 0 No comment GNAS-AS1 100.00 0 No comment IYD 100.00 0 No comment JAG1 99.66 0 No comment KAT6B 100.00 0 No comment KDM6A 100.00 0 No comment KMT2D 100.00 0 No comment NKX2-1 92.46 0 No comment NKX2-5 100.00 0 No comment NTN1 95.84 0 No comment PAX8 100.00 0 No comment SALL1 100.00 0 No comment SECISBP2 98.68 0 No comment SLC11A2 100.00 0 No comment SLC26A4 99.99 0 No comment SLC26A7 100.00 0 No comment SLC5A5 100.00 0 No comment STX16 100.00 0 No comment TBX1 77.39 0 No comment TG 100.00 0 No comment THRA 100.00 0 No comment THRB 100.00 0 No comment THPO 99.84 0 No comment TSHR 100.00 0 No comment TUBB1 100.00 0 No comment URB1 99.99 0 No comment