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Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

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Name:
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Description:
A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts.
ORPHAcode:
2239
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
GCM2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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%