Hypocalcemia, Autosomal Dominant malady

MalaCards: Hypocalcemia, Autosomal Dominant, also known as hypocalcemia, is related to familial hypocalciuric hypercalcemia and hypocalcemia. An important gene associated with Hypocalcemia, Autosomal Dominant is CASR (calcium-sensing receptor), and among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling. The drugs calcium carbonate pwdr [va product] and calcium carbonate and the compounds spermine and gadolinium have been mentioned in the context of this disorder. Related mouse phenotype muscle.

OMIM: 146200

hypocalcemia, autosomal dominant 30 16 33 32 hypocalcemia 43

Diseases related to hypocalcemia, autosomal dominant by text searches and GeneDecks gene sharing:

(show all 48)

id	Related Disease	Score	Top Affiliating Genes
1	familial hypocalciuric hypercalcemia	28.2	CASR, CXADR
2	hypocalcemia	28.1	CXADR, PRKAR1A, CASR, CARS, GRM1
3	hypocalciuric hypercalcemia	27.8	CASR, PRKAR1A, CXADR
4	hyperparathyroidism	27.0	CARS, CASR, PRKAR1A, CXADR
5	rickets	26.8	CXADR, CASR
6	hypercalciuria	26.3	PRKAR1A, CASR
7	hypercalcemia	26.3	GRM1, CARS, CASR, PRKAR1A, CXADR
8	hypoparathyroidism	26.3	CXADR, PRKAR1A, CASR, CARS
9	primary hyperparathyroidism	25.6	CASR, PRKAR1A, CXADR
10	parathyroid carcinoma	12.7	CXADR, CASR
11	gastrinoma	12.7	CASR, CXADR
12	cherubism	12.5	PRKAR1A, CASR
13	wermer syndrome	12.5	CASR, PRKAR1A
14	familial medullary thyroid carcinoma	12.4	CASR, PRKAR1A
15	multiple endocrine neoplasia	12.2	CASR, PRKAR1A
16	osteolysis	12.2	PRKAR1A, CXADR
17	secondary hyperparathyroidism of renal origin	12.2	CXADR, CASR, CARS
18	chronic kidney failure	12.2	CARS, CASR, CXADR
19	uremia	12.1	CASR, CXADR
20	hyperparathyroidism, neonatal severe primary	12.0	CASR, PRKAR1A, CXADR
21	parathyroid adenoma	11.9	CXADR, PRKAR1A, CASR
22	pituitary tumor	11.9	CASR, PRKAR1A, CXADR
23	osteoporosis	11.8	CXADR, PRKAR1A, CASR
24	bartter disease	11.8	CASR, PRKAR1A, CXADR
25	thyroid carcinoma	11.7	CASR, PRKAR1A, CXADR
26	primary hyperoxaluria	11.6	CXADR, PRKAR1A, CASR
27	astrocytoma	11.6	CASR, PRKAR1A, CXADR
28	neuronitis	10.4	CXADR, PRKAR1A, CASR, CARS, GRM1
29	hypomagnesemia with secondary hypocalcemia	8.5
30	hypomagnesemia	8.0
31	hypocalcemia, autosomal dominant, with bartter syndrome	7.8
32	kenny-caffey syndrome type 2	6.1
33	celiac disease	6.1
34	secondary hyperparathyroidism	5.2
35	calciphylaxis	5.2
36	thyrotoxicosis	5.2
37	gitelman syndrome	5.2
38	twinning	5.2
39	hyperphosphatemia	5.2
40	hypothyroidism	5.2
41	multiple myeloma	5.2
42	muscle disorders	5.2
43	myeloma	5.2
44	paget's disease of bone	5.2
45	purpura	5.2
46	paroxysmal kinesigenic choreoathetosis	5.2
47	pseudohypoparathyroidism	5.2
48	renal osteodystrophy	5.2

Clinical features from OMIM: 146200

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 calcitriol, calcium (as calcium carbonate), calcium (as carbonate), calcium (as citrate), calcium acetate, calcium carbonate, calcium carbonate pwdr [va product], calcium citrate, calcium glubionate, calcium glycerophosphate, calcium lactate, calcium levulinate, calcium pantothenate, calcium phosphate, cod liver oil [va product], dihydrotachysterol

MGI Mouse Phenotypes related to hypocalcemia, autosomal dominant:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	8.1	GRM1, CASR, PRKAR1A, CXADR

Genes related to hypocalcemia, autosomal dominant according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CASR	calcium-sensing receptor	11.1
2	CARS	cysteinyl-tRNA synthetase	11.0
3	CXADR	coxsackie virus and adenovirus receptor	11.0
4	PRKAR1A	protein kinase, cAMP-dependent, regulatory, type I, alpha	11.0
5	GRM1	glutamate receptor, metabotropic 1	11.0

Pathways related to hypocalcemia, autosomal dominant according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Neuropathic Pain-Signaling in Dorsal Horn Neurons36	9.1	GRM1, PRKAR1A
2	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling10	9.0	GRM1, PRKAR1A
3	Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling41	8.8	GRM1, PRKAR1A

Compounds related to hypocalcemia, autosomal dominant according to GeneDecks:

(show all 19)

id	Compound	Score	Top Affiliating Genes
1	spermine32 9 18 9	12.5	CXADR, CASR
2	gadolinium32	9.5	CASR, PRKAR1A
3	ganciclovir32 9 9	11.4	CXADR, GRM1
4	1,25 dihydroxy vitamin d332	9.3	CASR, CXADR
5	phenylalanine32	9.1	CARS, CASR, CXADR
6	potassium32 9 18 9	12.1	CXADR, GRM1, CASR
7	cpccoet32 42	10.0	GRM1, CASR, PRKAR1A
8	cinacalcet32 9 9	10.9	CASR, CXADR, PRKAR1A
9	l-amino acid32	8.9	CXADR, CASR, PRKAR1A
10	nitric oxide32 9 18 9	11.9	GRM1, CASR, CXADR
11	forskolin32 42 9 9	11.9	GRM1, CASR, PRKAR1A
12	neomycin32	8.8	CASR, CXADR, PRKAR1A
13	cyclic amp32 18	9.7	GRM1, CASR, PRKAR1A
14	adenylate32	8.6	CXADR, PRKAR1A, CASR
15	vitamin d32	8.3	CARS, CASR, CXADR, PRKAR1A
16	arginine32	8.3	CASR, PRKAR1A, CXADR
17	glutamate32	7.8	CASR, PRKAR1A, CXADR, CARS, GRM1
18	cysteine32	7.8	GRM1, CXADR, PRKAR1A, CASR, CARS
19	calcium32 9 18 9	10.8	CXADR, PRKAR1A, CARS, CASR, GRM1

Cellular components related to hypocalcemia, autosomal dominant according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	neuromuscular junction	GO:031594	9.0	PRKAR1A, CXADR