MCID: HYP802
MIFTS: 62

Hypocalcemia, Autosomal Dominant 1

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

Aliases & Classifications for Hypocalcemia, Autosomal Dominant 1

MalaCards integrated aliases for Hypocalcemia, Autosomal Dominant 1:

Name: Hypocalcemia, Autosomal Dominant 1 57 75 29 6 40 73
Hypocalcemia, Autosomal Dominant 57 53 13 55 40
Autosomal Dominant Hypocalcemia 12 25 59 29 73
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 57 29 40
Hypoc1 57 12 75
Hypercalciuric Hypocalcemia 57 75
Familial Hypocalcemia 25 75
Hypocalcemia 44 73
Autosomal Dominant Hypocalcemia with Bartter Syndrome 75
Hypoparathyroidism - Autosomal Dominant 73
Autosomal Dominant Hypoparathyroidism 25
Familial Hypercalciuric Hypocalcemia 25
Bartter Syndrome with Hypocalcemia 59
Autosomal Dominant Hypocalcemia 1 12
Bartter Syndrome Type 5 59
Bartter Syndrome Type V 59
Hypocalcemia, Familial 57
Ad Hypocalcemia 59
Hypoc 12
Adh 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients have asymptomatic hypocalcemia


HPO:

32
hypocalcemia, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypocalcemia, Autosomal Dominant 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Hypocalcemia, Autosomal Dominant 1, also known as hypocalcemia, autosomal dominant, is related to hypoparathyroidism, familial isolated and hypocalcemia, autosomal dominant 2, and has symptoms including muscle cramp, seizures and carpopedal spasm. An important gene associated with Hypocalcemia, Autosomal Dominant 1 is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are CREB Pathway and DAG and IP3 signaling. Affiliated tissues include kidney, bone and skin, and related phenotypes are nephrocalcinosis and optic atrophy

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.

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 : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Hypocalcemia, Autosomal Dominant 1

Diseases in the Hypocalcemia, Autosomal Dominant 1 family:

Hypocalcemia, Autosomal Dominant 2

Diseases related to Hypocalcemia, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, familial isolated 32.4 CASR GCM2
2 hypocalcemia, autosomal dominant 2 12.4
3 inappropriate adh syndrome 12.2
4 bartter syndrome, type 5, antenatal, transient 12.2
5 diabetes insipidus, nephrogenic, autosomal 12.0
6 syndrome of inappropriate antidiuretic hormone 11.4
7 diabetes insipidus, nephrogenic, x-linked 11.2
8 diabetes insipidus, neurohypophyseal 11.1
9 hypomagnesemia 1, intestinal 11.0
10 hypocalciuric hypercalcemia, familial, type i 10.6 CASR GNA11
11 hypocalciuric hypercalcemia, familial, type iii 10.5 CASR GNA11
12 autoimmune hypoparathyroidism 10.5 CASR PRKAR1A
13 hyperparathyroidism, neonatal severe 10.5 CASR PRKAR1A
14 hypocalciuric hypercalcemia, familial, type ii 10.5 CASR GNA11
15 hormone producing pituitary cancer 10.5 GNAS PRKAR1A
16 familial hypocalciuric hypercalcemia 10.5 CASR GNA11
17 acrodysostosis 10.4 GNAS PRKAR1A
18 chondrocalcinosis 10.4 CASR GNA11
19 growth hormone secreting pituitary adenoma 10.4 GNAS PRKAR1A
20 albright's hereditary osteodystrophy 10.4 GNAS PRKAR1A
21 calciphylaxis 10.3 CASR VDR
22 hypercalciuria, absorptive, 2 10.3 CASR VDR
23 carney complex variant 10.3 GNAS PRKAR1A
24 hypoparathyroidism 10.3
25 xanthinuria, type i 10.3 CASR VDR
26 nephrolithiasis, calcium oxalate 10.2 CASR VDR
27 primary pigmented nodular adrenocortical disease 10.2 GNAS PRKAR1A
28 alcohol dependence 10.1
29 multiple endocrine neoplasia, type i 10.1 CASR GNAS PRKAR1A
30 pseudopseudohypoparathyroidism 10.1 GNA11 GNAS PRKAR1A
31 diabetes insipidus 10.1
32 phosphorus metabolism disease 10.0 CASR GNAS VDR
33 idiopathic hypercalciuria 9.9 CASR PRKAR1A VDR
34 lung cancer 9.9
35 esophageal cancer 9.8
36 schizophrenia 9.8
37 pancreatic cancer 9.8
38 esophagitis 9.8
39 brain cancer 9.8
40 pancreatitis 9.8
41 pneumonia 9.8
42 parathyroid carcinoma 9.8 CALCA CASR
43 fibrous dysplasia 9.8 CALCA GNAS
44 pituitary adenoma, prolactin-secreting 9.7 GNAS PRKAR1A
45 aortic aneurysm, familial abdominal, 1 9.7
46 arteries, anomalies of 9.7
47 colorectal cancer 9.7
48 porphyria, acute intermittent 9.7
49 autism 9.7
50 myocardial infarction 9.7

Graphical network of the top 20 diseases related to Hypocalcemia, Autosomal Dominant 1:



Diseases related to Hypocalcemia, Autosomal Dominant 1

Symptoms & Phenotypes for Hypocalcemia, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
paresthesias
calcification of the basal ganglia

Muscle Soft Tissue:
muscle cramps
tetany
carpopedal spasm

Growth Height:
short stature (rare)

Skeletal:
osteoarthritis, premature (rare)

Genitourinary Kidneys:
hypercalciuria
nephrocalcinosis
nephrolithiasis
decreased renal function

Endocrine Features:
hypomagnesemia
hypocalcemia, mild or severe
parathyroid hormone concentration low or low-normal
normal or mildly elevated serum phosphate
hypokalemia (rare)
more
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 1:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000121
2 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 emotional lability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000712
4 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
5 anxiety 59 32 hallmark (90%) Very frequent (99-80%) HP:0000739
6 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
7 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
8 abnormality of the fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001231
9 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
10 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
11 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
12 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
13 writer's cramp 59 32 hallmark (90%) Very frequent (99-80%) HP:0002356
14 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
15 hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0002615
16 abnormal pattern of respiration 59 32 frequent (33%) Frequent (79-30%) HP:0002793
17 hypocalcemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002901
18 hyperphosphatemia 59 32 frequent (33%) Frequent (79-30%) HP:0002905
19 hypomagnesemia 59 32 frequent (33%) Frequent (79-30%) HP:0002917
20 paresthesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003401
21 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
22 fatigable weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003473
23 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
24 reduced consciousness/confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0004372
25 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
26 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
27 hypermagnesiuria 59 32 frequent (33%) Frequent (79-30%) HP:0012608
28 cortical myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0040148
29 behavioral abnormality 59 Very frequent (99-80%)
30 abnormality of the nail 59 Frequent (79-30%)
31 nephrolithiasis 32 HP:0000787
32 increased circulating renin level 32 occasional (7.5%) HP:0000848
33 seizures 32 HP:0001250
34 tetany 32 HP:0001281
35 basal ganglia calcification 32 HP:0002135
36 hypokalemia 32 occasional (7.5%) HP:0002900
37 muscle cramps 32 HP:0003394
38 short stature 32 occasional (7.5%) HP:0004322
39 abnormal renal physiology 32 HP:0012211
40 laryngospasm 32 occasional (7.5%) HP:0025425

UMLS symptoms related to Hypocalcemia, Autosomal Dominant 1:


muscle cramp, seizures, carpopedal spasm

MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant 1:

46
# 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 GCM2 GNA11 GNAS PRKAR1A TRPM6 VDR
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 9.85 GRM1 PRKAR1A VDR CASR GNA11 GNAS
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 1

Genetic Tests for Hypocalcemia, Autosomal Dominant 1

Genetic tests related to Hypocalcemia, Autosomal Dominant 1:

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

Anatomical Context for Hypocalcemia, Autosomal Dominant 1

MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant 1:

41
Kidney, Bone, Skin, Liver, Heart

Publications for Hypocalcemia, Autosomal Dominant 1

Articles related to Hypocalcemia, Autosomal Dominant 1:

(show all 27)
# Title Authors Year
1
Identification of a G-Protein Subunit-I+11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). ( 26818911 )
2016
2
Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study. ( 26764418 )
2016
3
Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation. ( 27334330 )
2016
4
Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2. ( 27803672 )
2016
5
Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1. ( 26323216 )
2015
6
Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. ( 24297799 )
2014
7
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). ( 24708097 )
2014
8
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. ( 25506941 )
2014
9
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. ( 23009664 )
2013
10
CASR gene activating mutations in two families with autosomal dominant hypocalcemia. ( 22789683 )
2012
11
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. ( 20119591 )
2010
12
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. ( 17048213 )
2006
13
A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. ( 15551332 )
2005
14
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor. ( 15005845 )
2004
15
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. ( 15241791 )
2004
16
A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms. ( 14519094 )
2003
17
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. ( 12574188 )
2003
18
A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. ( 12733714 )
2003
19
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. ( 11889203 )
2002
20
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. ( 12191970 )
2002
21
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. ( 12050233 )
2002
22
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain. ( 12162500 )
2002
23
A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia. ( 11289719 )
2001
24
Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. ( 11136551 )
2000
25
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. ( 11013439 )
2000
26
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. ( 10770217 )
2000
27
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. ( 9920108 )
1999

Variations for Hypocalcemia, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant 1:

75 (show all 34)
# 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 rs886041537
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 1:

6
(show top 50) (show all 612)
# Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.2318T> G (p.Leu773Arg) single nucleotide variant Pathogenic rs104893699 GRCh37 Chromosome 3, 122003119: 122003119
2 CASR NM_000388.3(CASR): c.2318T> G (p.Leu773Arg) single nucleotide variant Pathogenic rs104893699 GRCh38 Chromosome 3, 122284272: 122284272
3 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh37 Chromosome 3, 121980436: 121980436
4 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh38 Chromosome 3, 122261589: 122261589
5 CASR NM_000388.3(CASR): c.380A> C (p.Glu127Ala) single nucleotide variant Pathogenic rs121909260 GRCh37 Chromosome 3, 121976122: 121976122
6 CASR NM_000388.3(CASR): c.380A> C (p.Glu127Ala) single nucleotide variant Pathogenic rs121909260 GRCh38 Chromosome 3, 122257275: 122257275
7 CASR NM_000388.3(CASR): c.2043G> T (p.Gln681His) single nucleotide variant Pathogenic rs121909261 GRCh37 Chromosome 3, 122002844: 122002844
8 CASR NM_000388.3(CASR): c.2043G> T (p.Gln681His) single nucleotide variant Pathogenic rs121909261 GRCh38 Chromosome 3, 122283997: 122283997
9 CASR NM_000388.3(CASR): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic rs104893691 GRCh37 Chromosome 3, 121976088: 121976088
10 CASR NM_000388.3(CASR): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic rs104893691 GRCh38 Chromosome 3, 122257241: 122257241
11 CASR NM_000388.3(CASR): c.2417T> C (p.Phe806Ser) single nucleotide variant Pathogenic rs104893693 GRCh37 Chromosome 3, 122003218: 122003218
12 CASR NM_000388.3(CASR): c.2417T> C (p.Phe806Ser) single nucleotide variant Pathogenic rs104893693 GRCh38 Chromosome 3, 122284371: 122284371
13 CASR NM_000388.3(CASR): c.452C> T (p.Thr151Met) single nucleotide variant Pathogenic rs104893694 GRCh37 Chromosome 3, 121976194: 121976194
14 CASR NM_000388.3(CASR): c.452C> T (p.Thr151Met) single nucleotide variant Pathogenic rs104893694 GRCh38 Chromosome 3, 122257347: 122257347
15 CASR NM_000388.3(CASR): c.354C> A (p.Asn118Lys) single nucleotide variant Pathogenic rs104893695 GRCh37 Chromosome 3, 121976096: 121976096
16 CASR NM_000388.3(CASR): c.354C> A (p.Asn118Lys) single nucleotide variant Pathogenic rs104893695 GRCh38 Chromosome 3, 122257249: 122257249
17 CASR NM_000388.3(CASR): c.382T> C (p.Phe128Leu) single nucleotide variant Pathogenic rs104893696 GRCh37 Chromosome 3, 121976124: 121976124
18 CASR NM_000388.3(CASR): c.382T> C (p.Phe128Leu) single nucleotide variant Pathogenic rs104893696 GRCh38 Chromosome 3, 122257277: 122257277
19 CASR NM_000388.3(CASR): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs104893697 GRCh37 Chromosome 3, 121980453: 121980453
20 CASR NM_000388.3(CASR): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs104893697 GRCh38 Chromosome 3, 122261606: 122261606
21 CASR NM_000388.3(CASR): c.1835T> C (p.Phe612Ser) single nucleotide variant Pathogenic rs104893698 GRCh37 Chromosome 3, 122002636: 122002636
22 CASR NM_000388.3(CASR): c.1835T> C (p.Phe612Ser) single nucleotide variant Pathogenic rs104893698 GRCh38 Chromosome 3, 122283789: 122283789
23 CASR NM_000388.3(CASR): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs28936684 GRCh37 Chromosome 3, 121980562: 121980562
24 CASR NM_000388.3(CASR): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs28936684 GRCh38 Chromosome 3, 122261715: 122261715
25 CASR NM_000388.3(CASR): c.428G> A (p.Gly143Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121909264 GRCh37 Chromosome 3, 121976170: 121976170
26 CASR NM_000388.3(CASR): c.428G> A (p.Gly143Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121909264 GRCh38 Chromosome 3, 122257323: 122257323
27 CASR NM_000388.3(CASR): c.2363T> G (p.Phe788Cys) single nucleotide variant Pathogenic rs104893701 GRCh37 Chromosome 3, 122003164: 122003164
28 CASR NM_000388.3(CASR): c.2363T> G (p.Phe788Cys) single nucleotide variant Pathogenic rs104893701 GRCh38 Chromosome 3, 122284317: 122284317
29 CASR NM_000388.3(CASR): c.141A> C (p.Lys47Asn) single nucleotide variant Pathogenic rs104893702 GRCh37 Chromosome 3, 121973177: 121973177
30 CASR NM_000388.3(CASR): c.141A> C (p.Lys47Asn) single nucleotide variant Pathogenic rs104893702 GRCh38 Chromosome 3, 122254330: 122254330
31 CASR NM_000388.3(CASR): c.1846C> G (p.Leu616Val) single nucleotide variant Pathogenic rs104893703 GRCh37 Chromosome 3, 122002647: 122002647
32 CASR NM_000388.3(CASR): c.1846C> G (p.Leu616Val) single nucleotide variant Pathogenic rs104893703 GRCh38 Chromosome 3, 122283800: 122283800
33 CASR NM_000388.3(CASR): c.2682_3224del543 (p.Ser895_Val1075del) deletion Pathogenic GRCh38 Chromosome 3, 122284636: 122285178
34 CASR NM_000388.3(CASR): c.2682_3224del543 (p.Ser895_Val1075del) deletion Pathogenic GRCh37 Chromosome 3, 122003483: 122004025
35 CASR NM_000388.3(CASR): c.2528C> A (p.Ala843Glu) single nucleotide variant Pathogenic rs104893706 GRCh37 Chromosome 3, 122003329: 122003329
36 CASR NM_000388.3(CASR): c.2528C> A (p.Ala843Glu) single nucleotide variant Pathogenic rs104893706 GRCh38 Chromosome 3, 122284482: 122284482
37 CASR NM_000388.3(CASR): c.374T> C (p.Leu125Pro) single nucleotide variant Pathogenic rs104893708 GRCh37 Chromosome 3, 121976116: 121976116
38 CASR NM_000388.3(CASR): c.374T> C (p.Leu125Pro) single nucleotide variant Pathogenic rs104893708 GRCh38 Chromosome 3, 122257269: 122257269
39 CASR NM_000388.3(CASR): c.2459C> T (p.Ser820Phe) single nucleotide variant Pathogenic rs104893710 GRCh37 Chromosome 3, 122003260: 122003260
40 CASR NM_000388.3(CASR): c.2459C> T (p.Ser820Phe) single nucleotide variant Pathogenic rs104893710 GRCh38 Chromosome 3, 122284413: 122284413
41 CASR NM_000388.3(CASR): c.2362T> C (p.Phe788Leu) single nucleotide variant Pathogenic rs104893711 GRCh37 Chromosome 3, 122003163: 122003163
42 CASR NM_000388.3(CASR): c.2362T> C (p.Phe788Leu) single nucleotide variant Pathogenic rs104893711 GRCh38 Chromosome 3, 122284316: 122284316
43 CASR NM_000388.3(CASR): c.1810G> A (p.Glu604Lys) single nucleotide variant Pathogenic rs104893712 GRCh37 Chromosome 3, 122002611: 122002611
44 CASR NM_000388.3(CASR): c.1810G> A (p.Glu604Lys) single nucleotide variant Pathogenic rs104893712 GRCh38 Chromosome 3, 122283764: 122283764
45 CASR NM_000388.3(CASR): c.2180T> A (p.Leu727Gln) single nucleotide variant Pathogenic rs104893718 GRCh37 Chromosome 3, 122002981: 122002981
46 CASR NM_000388.3(CASR): c.2180T> A (p.Leu727Gln) single nucleotide variant Pathogenic rs104893718 GRCh38 Chromosome 3, 122284134: 122284134
47 CASR NM_000388.3(CASR): c.662C> T (p.Pro221Leu) single nucleotide variant Pathogenic rs397514728 GRCh37 Chromosome 3, 121980544: 121980544
48 CASR NM_000388.3(CASR): c.662C> T (p.Pro221Leu) single nucleotide variant Pathogenic rs397514728 GRCh38 Chromosome 3, 122261697: 122261697
49 CASR NM_000388.3(CASR): c.114T> C (p.Phe38=) single nucleotide variant Conflicting interpretations of pathogenicity rs61733590 GRCh37 Chromosome 3, 121973150: 121973150
50 CASR NM_000388.3(CASR): c.114T> C (p.Phe38=) single nucleotide variant Conflicting interpretations of pathogenicity rs61733590 GRCh38 Chromosome 3, 122254303: 122254303

Expression for Hypocalcemia, Autosomal Dominant 1

Search GEO for disease gene expression data for Hypocalcemia, Autosomal Dominant 1.

Pathways for Hypocalcemia, Autosomal Dominant 1

Pathways related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 25)
# 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
Show member pathways
12.74 GNA11 GNAS GRM1 PRKAR1A
4
Show member pathways
12.32 GNA11 GNAS PRKAR1A
5 12.27 CALCA GNA11 GRM1 PRKAR1A
6
Show member pathways
12.11 CALCA GNA11 GNAS PRKAR1A
7
Show member pathways
12.09 GNA11 GNAS PRKAR1A
8
Show member pathways
11.98 GNA11 GNAS GRM1
9
Show member pathways
11.91 GNA11 GNAS PRKAR1A
10
Show member pathways
11.73 GNA11 GNAS PRKAR1A
11 11.56 CASR GNA11 PRKAR1A VDR
12
Show member pathways
11.54 GNAS GRM1 PRKAR1A
13 11.49 GNA11 GNAS GRM1
14 11.32 TRPM6 VDR
15 11.32 GNA11 GNAS
16 11.29 GNA11 GNAS
17 11.27 GNAS VDR
18 11.25 CASR GNAS
19 11.23 CALCA VDR
20 11.21 GNA11 GNAS GRM1
21 11.09 CALCA GNAS
22 11.05 CASR GCM2 GNA11 GNAS VDR
23 10.89 GNAS PRKAR1A
24 10.85 GNA11 GNAS PRKAR1A VDR
25 10.68 CASR GRM1

GO Terms for Hypocalcemia, Autosomal Dominant 1

Cellular components related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# 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 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.72 CALCA CASR GNA11 GNAS GRM1
2 cellular response to glucagon stimulus GO:0071377 9.46 GNAS PRKAR1A
3 activation of adenylate cyclase activity GO:0007190 9.43 CALCA GNAS
4 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway GO:0051482 9.4 CALCA GRM1
5 renal water homeostasis GO:0003091 9.37 GNAS PRKAR1A
6 skeletal system development GO:0001501 9.33 GNA11 GNAS VDR
7 vasodilation GO:0042311 9.26 CALCA CASR
8 calcium ion transport GO:0006816 9.13 CASR TRPM6 VDR
9 cellular calcium ion homeostasis GO:0006874 8.92 CALCA CASR GCM2 VDR

Molecular functions related to Hypocalcemia, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# 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 obsolete signal transducer activity GO:0004871 8.92 CASR GNA11 GNAS GRM1

Sources for Hypocalcemia, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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