Details of Disease | DrugMAP

General Information of Disease (ID: DISGEJ3Q)

Disease Name	Hyperparathyroidism, transient neonatal
Synonyms	HRPTTN; hyperparathyroidism, transient neonatal
Disease Hierarchy	DIS5A054: Abnormal mineralization disorder DISP4KFV: Hereditary hyperparathyroidism DISGEJ3Q: Hyperparathyroidism, transient neonatal
Disease Identifiers	MONDO ID MONDO_0032591 UMLS CUI C1300287 OMIM ID 618188 MedGen ID 722059 SNOMED CT ID 389201004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV6	TTBK14N	Moderate	Autosomal recessive	[1]
TRPV6	TTBK14N	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPV6	OTZ0LGNO	Moderate	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism.J Endocr Soc. 2019 Jan 3;3(3):602-606. doi: 10.1210/js.2018-00374. eCollection 2019 Mar 1.