Details of Disease | DrugMAP

General Information of Disease (ID: DIS85C84)

Disease Name	Familial hypoparathyroidism
Synonyms	hypoparathyroidism, familial isolated; FIH; hypoparathyroidism familial isolated; Familial Isolated Hypoparathyroidism; familial isolated hypoparathyroidism; hypoparathyroidism, familial
Definition	A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.
Disease Hierarchy	DIS7K8TV: Hereditary hypoparathyroidism DISO5FAY: Inborn error of metabolism DIS85C84: Familial hypoparathyroidism
Disease Identifiers	MONDO ID MONDO_0016390 MESH ID C537156 UMLS CUI C1832648 MedGen ID 322005 Orphanet ID 2238 SNOMED CT ID 725036000

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	Limited	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGA	OTNWT1WB	Definitive	Genetic Variation	[2]
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References

1	Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.J Clin Endocrinol Metab. 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250.
2	Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism.J Clin Endocrinol Metab. 1992 Mar;74(3):509-16. doi: 10.1210/jcem.74.3.1740484.