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Neonatal severe primary hyperparathyroidism

Disease Export to PDF
Name:
Neonatal severe primary hyperparathyroidism
Description:
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
ORPHAcode:
417
Synonyms:
NSHPT
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
TRPV6
CASR
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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