About: autosomal dominant hypocalcemia

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calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone

Attributes	Values
rdf:type	Item
description	calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone (en)
exact match	wds:Q30989948-74BDF0E1-6538-42BC-991B-1110CE26866B wds:Q30989948-EAF5A480-B563-4029-A01D-15D0D5AC7D58
exact match	http://purl.obolibrary.org/obo/DOID_0090109 http://identifiers.org/doid/DOID:0090109
Disease Ontology ID	wds:Q30989948-4E91514B-FD0A-40F0-A0E4-BA884E761DCF
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0090109
Disease Ontology ID	DOID:0090109
rdfs:label	autosomal dominant hypocalcemia (en) hypocalcémie autosomique dominante (fr)
skos:prefLabel	autosomal dominant hypocalcemia (en) hypocalcémie autosomique dominante (fr)
name	autosomal dominant hypocalcemia (en) hypocalcémie autosomique dominante (fr)
instance of	wds:Q30989948-C42FD48C-5487-4757-886B-960948A93D8B
instance of	class of disease
subclass of	wds:Q30989948-1E2E965D-6054-4DBA-BD19-5B2AC2AC9C12 wds:Q30989948-48097ca8-4667-cdd2-b556-f159eb861c26 wds:Q30989948-8FDBF319-995F-4E89-A14B-0A6D09DE12E2
subclass of	hypocalcaemia metal metabolism disorder autosomal dominant disease
Orphanet ID	wds:Q30989948-7143A003-DB2F-44B1-9E5E-3F576FF2DDA1
ICD-10-CM	wds:Q30989948-706FDB93-8E7C-4EC4-BDF3-E12AEDD7456A
GARD rare disease ID	wds:Q30989948-67C05FB4-76E3-4DD7-8796-62FA53701E8C
Genetics Home Reference Conditions ID	wds:Q30989948-29CA9867-33B8-4E68-A9A9-06D928755DD3
Orphanet ID	428
ICD-10-CM	E20.8
GARD rare disease ID	2877
Genetics Home Reference Conditions ID	autosomal-dominant-hypocalcemia
skos:altLabel	HYPOC (en)
UMLS CUI	wds:Q30989948-7457437A-6B0A-4F8C-AA36-89DB08F6E85E wds:Q30989948-E7902ECE-8C23-42BB-99C9-B706DC20EA71
MeSH descriptor ID	wds:Q30989948-9d8721bb-475f-b903-ed63-d6b7ab4cb934
on focus list of Wikimedia project	wds:Q30989948-2FB96CF6-B8EB-4E47-A262-BD9395E62995
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C562783
UMLS CUI	C0342345 C4048195
MeSH descriptor ID	C562783
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q30989948
is subclass of of	autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia 2
is subclass of of	wds:Q30989463-72fc89fe-4bd8-c1ce-f013-0cd85bbbc3a4 wds:Q30989619-bfd78079-4afd-218d-086f-c0647b920561
is main subject of	Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor. Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914. Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1 Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2 Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH). Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2 The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1). Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain. Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635) A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia A Family of Autosomal Dominant Hypocalcemia with an Activating Mutation of Calcium-Sensing Receptor Gene Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C. Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model CASR gene activating mutations in two families with autosomal dominant hypocalcemia Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor. A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1 Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report
is main subject of	wds:Q34453896-44306CD6-5AB5-4F02-B485-4951087FCF68 wds:Q73341661-73117FBB-9375-4AC0-8741-D68BCE650860 wds:Q77909624-A9A02561-D6FC-409C-B420-58423A70CA57 wds:Q91839084-C4AEBEDE-1730-4E99-9738-CD64B90CC692 wds:Q28269023-0769CF42-F22C-4B4E-B436-0EBB098328FE wds:Q35970860-EA004EC6-233E-4D3A-92B4-2A73755AECA8 wds:Q91822743-288349B4-F35C-4D90-8345-1C61DD106488 wds:Q33610063-DCE24B90-E940-4449-9EE9-C853F654B4AF wds:Q44306801-3FF093CC-A739-4FE7-91FC-B5A201C57D47 wds:Q44431638-B689E31B-5EDC-49A2-A8E3-CB05736E0402 wds:Q53359387-8F5F04DA-4641-4069-8AF0-97AF6ED07BCF wds:Q58024874-66F64A02-3718-4330-B6F1-90E8E4A6081A wds:Q81025233-0287562B-D355-4156-BAB0-47A118CBB298 wds:Q100995008-A516C87D-A707-43B3-985F-8041CA91E6C6 wds:Q29465805-146D718E-D454-4B22-9A8B-B4390F4507D7 wds:Q35553630-D8DA890B-B526-4B9F-ADEE-1FEB34B80D27 wds:Q28076495-7E621B87-E5C7-4587-B031-FDB090770496 wds:Q40581278-EA20C4C5-A63E-492D-A64B-C3ACD344AAE7 wds:Q40712996-519ABCEB-4905-4EFF-A8A6-3333D2832D9B wds:Q51550562-1017BED4-3782-4C92-9A55-A9E90BC054C9 wds:Q79100908-564D6475-372C-443F-B5E1-5D17A7591015 wds:Q37025419-C983A9F1-F297-41FD-8FAA-0D5904B0D0AC wds:Q40946883-585F3191-2A67-4C34-9108-6F422DD2E2E3 wds:Q86040132-1EC40B99-2A7F-4954-AFD9-2F468A5A4184

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