Details of Disease | DrugMAP

General Information of Disease (ID: DISOJ4ON)

Disease Name	Neonatal severe primary hyperparathyroidism
Synonyms	Nsph; hyperparathyroidism, neonatal severe primary; hyperparathyroidism, neonatal severe; neonatal severe hyperparathyroidism; NSHPT; hyperparathyroidism, neonatal
Definition	Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
Disease Hierarchy	DIS5A054: Abnormal mineralization disorder DISPLTKN: Bone neoplasm DIS6NA55: Familial primary hyperparathyroidism DIS8I9FS: Hereditary disorder of connective tissue DISOJ4ON: Neonatal severe primary hyperparathyroidism
Disease Identifiers	MONDO ID MONDO_0009397 MESH ID C563375 UMLS CUI C1832615 OMIM ID 239200 MedGen ID 331326 Orphanet ID 417 SNOMED CT ID 715218009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV6	TTBK14N	Supportive	Autosomal recessive	[1]
GNA11	TTSRXJW	Strong	Biomarker	[2]
IDS	TTNY2AP	Strong	Biomarker	[3]
TRPV6	TTBK14N	Strong	GermlineCausalMutation	[1]
CASR	TTBUYHA	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPV6	OTZ0LGNO	Supportive	Autosomal recessive	[1]
CASR	OT2PEJDO	Definitive	Autosomal recessive	[4]
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References

1	TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. Am J Hum Genet. 2018 Jun 7;102(6):1104-1114. doi: 10.1016/j.ajhg.2018.04.006. Epub 2018 May 31.
2	Diseases associated with the extracellular calcium-sensing receptor.Cell Calcium. 2004 Mar;35(3):275-82. doi: 10.1016/j.ceca.2003.10.010.
3	Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.BMC Pediatr. 2018 Oct 30;18(1):340. doi: 10.1186/s12887-018-1319-0.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.