Details of Disease | DrugMAP

General Information of Disease (ID: DISASHAN)

Disease Name	Familial isolated hypoparathyroidism due to impaired PTH secretion
Disease Hierarchy	DISJJOWA: Hypoparathyroidism, familial isolated 1 DISASHAN: Familial isolated hypoparathyroidism due to impaired PTH secretion
Disease Identifiers	MONDO ID MONDO_0016000 UMLS CUI C5680524 MedGen ID 1843283 Orphanet ID 189466

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
PTH	TT6F7GZ	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AIRE	OTA7G1Y1	Supportive	Autosomal dominant	[2]
PTH	OTD721UF	Supportive	Autosomal dominant	[1]
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References

1	Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest. 1990 Oct;86(4):1084-7. doi: 10.1172/JCI114811.
2	Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism. J Clin Endocrinol Metab. 2017 May 1;102(5):1726-1733. doi: 10.1210/jc.2016-3836.