Details of Disease

General Information of Disease (ID: DIS6NA55)

Disease Name Familial primary hyperparathyroidism
Synonyms hereditary primary hyperparathyroidism (disease)
Definition An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISB4U1Q: Primary hyperparathyroidism
:
DISP4KFV: Hereditary hyperparathyroidism
DIS6NA55: Familial primary hyperparathyroidism
Disease Identifiers
MONDO ID
MONDO_0016365
UMLS CUI
C0271846
MedGen ID
543605
Orphanet ID
2207
SNOMED CT ID
237653008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GNA11 TTSRXJW Definitive Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP2S1 OTEV2XGW Strong Biomarker [1]
MEN1 OTN6U6V0 Strong Genetic Variation [2]
CDC73 OT6JASZ1 Definitive Genetic Variation [3]
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References

1 Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.Endocrine. 2017 Mar;55(3):741-747. doi: 10.1007/s12020-017-1241-5. Epub 2017 Feb 7.
2 Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism.Horm Cancer. 2012 Apr;3(1-2):44-51. doi: 10.1007/s12672-011-0100-8.
3 Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.World J Surg. 2020 Feb;44(2):508-516. doi: 10.1007/s00268-019-05156-y.