MCID: HYP192
MIFTS: 58

Hypocalcemia, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Hypocalcemia, Autosomal Dominant

MalaCards integrated aliases for Hypocalcemia, Autosomal Dominant:

Name: Hypocalcemia, Autosomal Dominant 54 50 13 52
Autosomal Dominant Hypocalcemia 12 24 25 56 29 69
Hypocalcemia, Autosomal Dominant 1 71 29 69
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 54 29
Familial Hypocalcemia 25 71
Hypocalcemia 42 69
Hypoc1 12 71
Autosomal Dominant Hypocalcemia with Bartter Syndrome 71
Hypoparathyroidism - Autosomal Dominant 69
Autosomal Dominant Hypoparathyroidism 25
Familial Hypercalciuric Hypocalcemia 25
Bartter Syndrome with Hypocalcemia 56
Autosomal Dominant Hypocalcemia 1 12
Hypercalciuric Hypocalcemia 71
Bartter Syndrome Type 5 56
Bartter Syndrome Type V 56
Ad Hypocalcemia 56
Hypoc 12
Adh 25

Characteristics:

Orphanet epidemiological data:

56
bartter syndrome with hypocalcemia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;
autosomal dominant hypocalcemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
some patients have asymptomatic hypocalcemia


HPO:

32
hypocalcemia, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypocalcemia, Autosomal Dominant

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 428disease definitionautosomal dominant hypocalcemia (ad hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (pth) and persistant normal or elevated calciuria.epidemiologyprevalence is unknown, but the disease is likely to be underdiagnosed as the hypocalcemia may remain asymptomatic.clinical descriptionclinical expression and age of onset are extremely variable (depending on the degree of hypocalcemia), ranging from completely asymptomatic patients (in whom the diagnosis is made by chance during a routine exam) to patients with limited symptoms (cramps, asthenia, paresthesias) and patients with severe symptoms (i.e. recurrent seizures). in addition to hypocalcemia, hypercalciuria or relative hypercalciuria (hypercalciuria within the normal range, but relatively high in the presence of hypocalcemia) is present. hyperphosphatemia, hypomagnesemia and hypermagnesuria are also common. nephrocalcinosis and impaired renal function have been reported and cases of ad hypocalcemia with classical features of bartter syndrome (bs; see this term) have been described (referred to as bs with hypocalcemia; see this term). serum levels of pth are normal or low. in addition to regulation by pth, environmental factors also influence calcium homeostasis and may explain why an initially well-controlled hypocalcemia may become symptomatic at various stages of life.etiologyad hypocalcemia is caused by activating mutations of the genecasr (3q21.1), encoding the calcium-sensing receptor (casr). casr plays a key role in the regulation of calcium-phosphate metabolism by controlling pth secretion and urinary calcium excretion in response to variations in serum calcium levels. gain-of-function casr mutations result in increased sensitivity of parathyroid and renal cells to calcium levels, leading to hypocalcemia being perceived as normal. activating mutations in gna11 (19p13.3) have also been described.diagnostic methodsdiagnosis is made through analysis of calcium levels in the serum and urine and pth levels, molecular analysis of casr followed by gna11 confirms diagnosis.differential diagnosisdifferential diagnosis includes all other causes of hypoparathyroidism as well as bs in patients with renal salt wasting.antenatal diagnosisantenatal diagnosis is possible.genetic counselinggenetic counseling may be proposed but patients should be informed about the wide variability in clinical presentation.management and treatmenttreatment to normalize calcemia levels should be considered with caution, as any increase in calcium levels (even within the normal range) will be perceived by renal cells as hypercalcemia and lead to increased urinary calcium excretion, and possibly to nephrocalcinosis and renal failure. treatment should aim towards finding a balance between the clinical signs of hypocalcemia and maintenance of calcium homeostasis, without being iatrogenic. urine calcium levels should be monitored in order to avoid hypercalciuria rather than adapting treatment towards hypocalcemia. in asymptomatic and mildly symptomatic patients, treatment may not be necessary. special care must be given to children as chronic hypocalcemia has deleterious effects on intellectual development. treatment is based on administration of 1-alpha hydroxylated vitamin d (doses ranging from 0.5 to 1.5 micrograms/day in adults; higher doses are sometimes required in children). careful monitoring of calciuria and regular kidney ultrasound are required. in cases where calcium homeostasis is difficult to achieve, exogenous pth administered by infusion pump can be proposed.prognosisthe prognosis is variable, depending on the severity of the hypocalcemia and the possible consequences of inadequate treatment.visit the orphanet disease page for more resources. last updated: 5/13/2014

MalaCards based summary : Hypocalcemia, Autosomal Dominant, also known as autosomal dominant hypocalcemia, is related to hypocalcemia, autosomal dominant 2 and bartter syndrome, type 5, antenatal, transient, and has symptoms including optic atrophy, nephrocalcinosis and hypomagnesemia. An important gene associated with Hypocalcemia, Autosomal Dominant is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are CREB Pathway and DAG and IP3 signaling. The drugs Amiloride and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and heart, and related phenotypes are homeostasis/metabolism and growth/size/body region

UniProtKB/Swiss-Prot : 71 Hypocalcemia, autosomal dominant 1: A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia.

Genetics Home Reference : 25 Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.

OMIM : 54
Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013). Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see 146200). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder. (601198)

Disease Ontology : 12 A calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.

Related Diseases for Hypocalcemia, Autosomal Dominant

Diseases in the Hypocalcemia, Autosomal Dominant family:

Hypocalcemia, Autosomal Dominant 2

Diseases related to Hypocalcemia, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
id Related Disease Score Top Affiliating Genes
1 hypocalcemia, autosomal dominant 2 34.2 CASR GNA11
2 bartter syndrome, type 5, antenatal, transient 12.1
3 inappropriate adh syndrome 12.1
4 diabetes insipidus, nephrogenic 11.7
5 syndrome of inappropriate antidiuretic hormone 11.1
6 hypoparathyroidism, familial isolated 11.1
7 diabetes insipidus, neurohypophyseal 11.0
8 hypothalamic disease 10.8
9 hypohidrotic ectodermal dysplasia, autosomal 10.8
10 hyperparathyroidism, neonatal 10.6 CASR GNA11
11 cerebrooculofacioskeletal syndrome 4 10.5 CASR GNA11
12 bullous impetigo 10.5 CASR PRKAR1A
13 methylmalonic acidemia due to transcobalamin receptor defect 10.5 CASR GNA11
14 pseudohypoparathyroidism ic 10.5 GNA11 GNAS
15 listeria meningitis 10.5 CASR GNA11
16 mononeuritis of upper limb and mononeuritis multiplex 10.4 GNAS PRKAR1A
17 histiocytoid hemangioma 10.4 CASR VDR
18 hypercalciuria, absorptive 10.3 CASR VDR
19 ataxia-oculomotor apraxia 3 10.3 GNAS PRKAR1A
20 xanthinuria, type i 10.3 CASR VDR
21 labyrinthitis 10.3 GNAS PRKAR1A
22 hypoparathyroidism 10.2
23 uv-sensitive syndrome 3 10.2 CASR VDR
24 pseudohypoparathyroidism, type ib 10.2 GNA11 GNAS PRKAR1A
25 osseous heteroplasia, progressive 10.1 GNA11 GNAS PRKAR1A
26 immunodeficiency, common variable, 5 10.1 CASR GNAS PRKAR1A
27 persistent hyperplastic primary vitreous 10.1 GNAS PRKAR1A
28 gastric antral vascular ectasia 10.1 CASR GNAS VDR
29 silver-russell syndrome due to 11p15 microduplication 10.0 CASR PRKAR1A VDR
30 alcohol dependence 10.0
31 parathyroid carcinoma 10.0 CALCA CASR
32 diabetes insipidus 9.9
33 meningovascular neurosyphilis 9.9 CALCA GNAS
34 bacillary angiomatosis 9.8 CALCA VDR
35 lung cancer 9.8
36 worth's syndrome 9.8 CALCA GNAS
37 osteoarthritis 9.8
38 pituitary adenoma, acth-secreting 9.8 GNAS PRKAR1A
39 xanthomatosis 9.8 CALCA CASR GNAS
40 pancreatitis 9.7
41 pneumonia 9.7
42 esophagitis 9.7
43 esophageal cancer 9.7
44 brain cancer 9.7
45 pancreatic cancer 9.7
46 dengue hemorrhagic fever 9.7 CALCA VDR
47 sporadic hemiplegic migraine 9.7 CALCA PRKAR1A
48 parathyroid oncocytic adenoma 9.6 CALCA CASR GCM2
49 physical disorder 9.6 CALCA VDR
50 loeys-dietz syndrome 9.6 CASR GCM2 GNAS VDR

Graphical network of the top 20 diseases related to Hypocalcemia, Autosomal Dominant:



Diseases related to Hypocalcemia, Autosomal Dominant

Symptoms & Phenotypes for Hypocalcemia, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
nephrolithiasis
nephrocalcinosis
hypercalciuria
decreased renal function

Neurologic- Central Nervous System:
paresthesias
seizures
calcification of the basal ganglia

Growth- Height:
short stature (rare)

Skeletal:
osteoarthritis, premature (rare)

Endocrine Features:
hypomagnesemia
hypocalcemia, mild or severe
parathyroid hormone concentration low or low-normal
normal or mildly elevated serum phosphate
hypokalemia (rare)
more
Muscle Soft Tissue:
muscle cramps
tetany
carpopedal spasm

Respiratory- Larynx:
laryngospasm (rare)

Skeletal- Spine:
increased bone mineral density of lumbar spine (rare)


Clinical features from OMIM:

601198

Human phenotypes related to Hypocalcemia, Autosomal Dominant:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
2 nephrocalcinosis 56 32 frequent (33%) Frequent (79-30%) HP:0000121
3 hypomagnesemia 56 32 frequent (33%) Frequent (79-30%) HP:0002917
4 hypermagnesiuria 56 32 frequent (33%) Frequent (79-30%) HP:0012608
5 hypercalciuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0002150
6 emotional lability 56 32 hallmark (90%) Very frequent (99-80%) HP:0000712
7 alopecia 56 32 frequent (33%) Frequent (79-30%) HP:0001596
8 depression 56 32 hallmark (90%) Very frequent (99-80%) HP:0000716
9 arrhythmia 56 32 frequent (33%) Frequent (79-30%) HP:0011675
10 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
11 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
12 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
13 hypocalcemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002901
14 hyperphosphatemia 56 32 frequent (33%) Frequent (79-30%) HP:0002905
15 eczema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000964
16 anxiety 56 32 hallmark (90%) Very frequent (99-80%) HP:0000739
17 writer's cramp 56 32 hallmark (90%) Very frequent (99-80%) HP:0002356
18 hypotension 56 32 frequent (33%) Frequent (79-30%) HP:0002615
19 cortical myoclonus 56 32 hallmark (90%) Very frequent (99-80%) HP:0040148
20 increased intracranial pressure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002516
21 paresthesia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003401
22 irregular hyperpigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007400
23 reduced consciousness/confusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0004372
24 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
25 reduced bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0004349
26 abnormality of the fingernails 56 32 frequent (33%) Frequent (79-30%) HP:0001231
27 fatigable weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0003473
28 abnormal pattern of respiration 56 32 frequent (33%) Frequent (79-30%) HP:0002793
29 short stature 32 occasional (7.5%) HP:0004322
30 nephrolithiasis 32 HP:0000787
31 seizures 32 HP:0001250
32 muscle cramps 32 HP:0003394
33 hypokalemia 32 occasional (7.5%) HP:0002900
34 tetany 32 HP:0001281
35 basal ganglia calcification 32 HP:0002135
36 behavioral abnormality 56 Very frequent (99-80%)
37 abnormality of the nail 56 Frequent (79-30%)
38 abnormal renal physiology 32 HP:0012211
39 increased circulating renin level 32 occasional (7.5%) HP:0000848

UMLS symptoms related to Hypocalcemia, Autosomal Dominant:


muscle cramp, seizures, carpopedal spasm

MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.01 CASR GCM2 GNA11 GNAS GRM1 PRKAR1A
2 growth/size/body region MP:0005378 9.98 CASR GNA11 GNAS GRM1 PRKAR1A TRPM6
3 craniofacial MP:0005382 9.95 PRKAR1A TRPM6 VDR GCM2 GNA11 GNAS
4 endocrine/exocrine gland MP:0005379 9.93 CASR GCM2 GNA11 GNAS PRKAR1A VDR
5 mortality/aging MP:0010768 9.92 CASR GCM2 GNA11 GNAS GRM1 PRKAR1A
6 integument MP:0010771 9.77 CASR GNA11 GNAS GRM1 VDR
7 muscle MP:0005369 9.73 CASR GNA11 GNAS GRM1 PRKAR1A VDR
8 pigmentation MP:0001186 9.46 CASR GNA11 GRM1 PRKAR1A
9 renal/urinary system MP:0005367 9.43 CASR GCM2 GNA11 GNAS GRM1 VDR
10 skeleton MP:0005390 9.23 CASR GCM2 GNA11 GNAS GRM1 PRKAR1A

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant

Drugs for Hypocalcemia, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
2
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
3
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
4
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
6 Calcium, Dietary Phase 2
7 Antihypertensive Agents Phase 2
8 Bone Density Conservation Agents Phase 2
9 diuretics Phase 2
10 Diuretics, Potassium Sparing Phase 2
11 Hydroxycholecalciferols Phase 2
12 Micronutrients Phase 2
13 Natriuretic Agents Phase 2
14 Sodium Channel Blockers Phase 2
15 Sodium Chloride Symporter Inhibitors Phase 2
16 Trace Elements Phase 2
17 Vitamins Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Study to Determine the Effects of NPSP795 on the Calcium-sensing Receptor in Subjects With Autosomal Dominant Hypocalcemia as Measured by PTH Levels and Blood Calcium Concentrations Completed NCT02204579 Phase 2 NPSP795
2 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
3 Hypoparathyroidism in Denmark Completed NCT01498341
4 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Recruiting NCT02551120

Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypocalcemia

Genetic Tests for Hypocalcemia, Autosomal Dominant

Genetic tests related to Hypocalcemia, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Hypocalcemia, Autosomal Dominant 1 29
2 Autosomal Dominant Hypocalcemia 29 24 CASR
3 Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 29

Anatomical Context for Hypocalcemia, Autosomal Dominant

MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:

39
Kidney, Bone, Heart, Skin

Publications for Hypocalcemia, Autosomal Dominant

Variations for Hypocalcemia, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant:

71 (show all 34)
id Symbol AA change Variation ID SNP ID
1 CASR p.Ala116Thr VAR_003588 rs104893691
2 CASR p.Glu127Ala VAR_003589 rs121909260
3 CASR p.Gln681His VAR_003598 rs121909261
4 CASR p.Phe806Ser VAR_003600 rs104893693
5 CASR p.Leu616Val VAR_015414 rs104893703
6 CASR p.Glu767Lys VAR_021019
7 CASR p.Lys47Asn VAR_058050 rs104893702
8 CASR p.Asn118Lys VAR_058051 rs104893695
9 CASR p.Leu125Pro VAR_058052 rs104893708
10 CASR p.Phe128Leu VAR_058053 rs104893696
11 CASR p.Cys131Trp VAR_058054 rs121909267
12 CASR p.Thr151Met VAR_058055 rs104893694
13 CASR p.Glu191Lys VAR_058058 rs104893697
14 CASR p.Glu604Lys VAR_058070 rs104893712
15 CASR p.Phe612Ser VAR_058071 rs104893698
16 CASR p.Leu727Gln VAR_058075 rs104893718
17 CASR p.Leu773Arg VAR_058078 rs104893699
18 CASR p.Phe788Cys VAR_058079 rs104893701
19 CASR p.Phe788Leu VAR_058080 rs104893711
20 CASR p.Ser820Phe VAR_058081 rs104893710
21 CASR p.Ala843Glu VAR_058082 rs104893706
22 CASR p.Ser122Cys VAR_078145
23 CASR p.Leu125Phe VAR_078146
24 CASR p.Cys129Arg VAR_078147
25 CASR p.Pro136Leu VAR_078148
26 CASR p.Pro221Leu VAR_078157 rs397514728
27 CASR p.Glu228Lys VAR_078159
28 CASR p.Pro569His VAR_078165
29 CASR p.Gln681Arg VAR_078171
30 CASR p.Asn802Ile VAR_078176
31 CASR p.Gly830Ser VAR_078179
32 CASR p.Phe832Leu VAR_078180
33 CASR p.Phe832Ser VAR_078181
34 CASR p.Ile839Thr VAR_078182

ClinVar genetic disease variations for Hypocalcemia, Autosomal Dominant:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.1835T> C (p.Phe612Ser) single nucleotide variant Pathogenic rs104893698 GRCh38 Chromosome 3, 122283789: 122283789
2 CASR NM_000388.3(CASR): c.2318T> G (p.Leu773Arg) single nucleotide variant Pathogenic rs104893699 GRCh37 Chromosome 3, 122003119: 122003119
3 CASR NM_000388.3(CASR): c.380A> C (p.Glu127Ala) single nucleotide variant Pathogenic rs121909260 GRCh37 Chromosome 3, 121976122: 121976122
4 CASR NM_000388.3(CASR): c.2043G> T (p.Gln681His) single nucleotide variant Pathogenic rs121909261 GRCh37 Chromosome 3, 122002844: 122002844
5 CASR NM_000388.3(CASR): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic rs104893691 GRCh37 Chromosome 3, 121976088: 121976088
6 CASR NM_000388.3(CASR): c.2417T> C (p.Phe806Ser) single nucleotide variant Pathogenic rs104893693 GRCh37 Chromosome 3, 122003218: 122003218
7 CASR NM_000388.3(CASR): c.452C> T (p.Thr151Met) single nucleotide variant Pathogenic rs104893694 GRCh37 Chromosome 3, 121976194: 121976194
8 CASR NM_000388.3(CASR): c.354C> A (p.Asn118Lys) single nucleotide variant Pathogenic rs104893695 GRCh37 Chromosome 3, 121976096: 121976096
9 CASR NM_000388.3(CASR): c.382T> C (p.Phe128Leu) single nucleotide variant Pathogenic rs104893696 GRCh37 Chromosome 3, 121976124: 121976124
10 CASR NM_000388.3(CASR): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs104893697 GRCh37 Chromosome 3, 121980453: 121980453
11 CASR NM_000388.3(CASR): c.2363T> G (p.Phe788Cys) single nucleotide variant Pathogenic rs104893701 GRCh37 Chromosome 3, 122003164: 122003164
12 CASR NM_000388.3(CASR): c.141A> C (p.Lys47Asn) single nucleotide variant Pathogenic rs104893702 GRCh37 Chromosome 3, 121973177: 121973177
13 CASR NM_000388.3(CASR): c.1846C> G (p.Leu616Val) single nucleotide variant Pathogenic rs104893703 GRCh37 Chromosome 3, 122002647: 122002647
14 CASR NM_000388.3(CASR): c.2682_3224del543 (p.Ser895_Val1075del) deletion Pathogenic GRCh38 Chromosome 3, 122284636: 122285178
15 CASR NM_000388.3(CASR): c.2528C> A (p.Ala843Glu) single nucleotide variant Pathogenic rs104893706 GRCh37 Chromosome 3, 122003329: 122003329
16 CASR NM_000388.3(CASR): c.374T> C (p.Leu125Pro) single nucleotide variant Pathogenic rs104893708 GRCh37 Chromosome 3, 121976116: 121976116
17 CASR NM_000388.3(CASR): c.2459C> T (p.Ser820Phe) single nucleotide variant Pathogenic rs104893710 GRCh37 Chromosome 3, 122003260: 122003260
18 CASR NM_000388.3(CASR): c.2362T> C (p.Phe788Leu) single nucleotide variant Pathogenic rs104893711 GRCh37 Chromosome 3, 122003163: 122003163
19 CASR NM_000388.3(CASR): c.1810G> A (p.Glu604Lys) single nucleotide variant Pathogenic rs104893712 GRCh37 Chromosome 3, 122002611: 122002611
20 CASR NM_000388.3(CASR): c.2180T> A (p.Leu727Gln) single nucleotide variant Pathogenic rs104893718 GRCh37 Chromosome 3, 122002981: 122002981
21 CASR NM_000388.3(CASR): c.662C> T (p.Pro221Leu) single nucleotide variant Pathogenic rs397514728 GRCh37 Chromosome 3, 121980544: 121980544
22 CASR NM_000388.3(CASR): c.2482A> C (p.Thr828Pro) single nucleotide variant Likely pathogenic rs794729230 GRCh38 Chromosome 3, 122284436: 122284436
23 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866

Expression for Hypocalcemia, Autosomal Dominant

Search GEO for disease gene expression data for Hypocalcemia, Autosomal Dominant.

Pathways for Hypocalcemia, Autosomal Dominant

Pathways related to Hypocalcemia, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 23)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 GNA11 GNAS GRM1 PRKAR1A TRPM6
2
Show member pathways
12.8 GNA11 GNAS PRKAR1A VDR
3 12.18 CALCA GNA11 GRM1 PRKAR1A
4
Show member pathways
12.11 CALCA GNA11 GNAS PRKAR1A
5
Show member pathways
12.09 GNA11 GNAS PRKAR1A
6
Show member pathways
11.97 GNA11 GNAS GRM1
7
Show member pathways
11.95 GNA11 GNAS GRM1 PRKAR1A
8
Show member pathways
11.89 GNA11 GNAS PRKAR1A
9
Show member pathways
11.7 GNA11 GNAS PRKAR1A
10
Show member pathways
11.54 GNAS GRM1 PRKAR1A
11 11.48 GNA11 GNAS PRKAR1A
12 11.35 CASR GNA11 PRKAR1A VDR
13 11.31 TRPM6 VDR
14 11.31 GNA11 GNAS
15 11.27 GNA11 GNAS
16 11.25 GNAS VDR
17 11.23 CASR GNAS
18 11.21 CALCA VDR
19 11.11 GNA11 GNAS GRM1
20 11.07 CALCA GNAS
21 10.86 GNAS PRKAR1A
22 10.66 CASR GRM1
23 10.52 GNA11 GNAS PRKAR1A VDR

GO Terms for Hypocalcemia, Autosomal Dominant

Cellular components related to Hypocalcemia, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.13 CASR GNAS TRPM6
2 heterotrimeric G-protein complex GO:0005834 8.62 GNA11 GNAS

Biological processes related to Hypocalcemia, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cAMP biosynthetic process GO:0030819 9.48 CALCA GNAS
2 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.46 CALCA GNAS
3 cellular response to glucagon stimulus GO:0071377 9.43 GNAS PRKAR1A
4 activation of adenylate cyclase activity GO:0007190 9.4 CALCA GNAS
5 renal water homeostasis GO:0003091 9.37 GNAS PRKAR1A
6 skeletal system development GO:0001501 9.33 GNA11 GNAS VDR
7 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway GO:0051482 9.32 CALCA GRM1
8 vasodilation GO:0042311 9.26 CALCA CASR
9 calcium ion transport GO:0006816 9.13 CASR TRPM6 VDR
10 cellular calcium ion homeostasis GO:0006874 8.92 CALCA CASR GCM2 VDR

Molecular functions related to Hypocalcemia, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNA11 GNAS
2 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAS
3 signal transducer activity GO:0004871 8.92 CASR GNA11 GNAS GRM1

Sources for Hypocalcemia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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