MCID: HYP192
MIFTS: 53

Hypocalcemia, Autosomal Dominant malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases categories

Summaries for Hypocalcemia, Autosomal Dominant

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48OMIM, 34MalaCards
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MalaCards: Hypocalcemia, Autosomal Dominant, also known as bartter syndrome with hypocalcemia, is related to hyperparathyroidism and hypercalcemia, and has symptoms including hypotension, urinary/renal lithiasis/kidney stones/nephritic colic and hyperphosphtemia. An important gene associated with Hypocalcemia, Autosomal Dominant is CASR (calcium-sensing receptor), and among its related pathways are Integration of energy metabolism and Development A3 receptor signaling. The compounds gadolinium and spermine have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and heart, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Description from OMIM:48 601198,615361

Aliases & Classifications for Hypocalcemia, Autosomal Dominant

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
bartter syndrome with hypocalcemia:
Inheritance: Autosomal dominant; Age of onset: Adulthood
autosomal dominant hypocalcemia:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hypocalcemia, autosomal dominant 44 21 23 48 46
bartter syndrome with hypocalcemia 50
autosomal dominant hypocalcemia 50
bartter syndrome type v 50
bartter syndrome type 5 50
ad hypocalcemia 50


External Ids:

ICD10 via Orphanet27 E26.8, E20.8

Related Diseases for Hypocalcemia, Autosomal Dominant

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Hypocalcemia, Autosomal Dominant:



Diseases related to hypocalcemia, autosomal dominant

Symptoms for Hypocalcemia, Autosomal Dominant

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

601198

Clinical features from OMIM:

601198,615361

Symptoms:

50 (show all 26)
  • hypotension
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • hyperphosphtemia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • eczema
  • irregular/in bands/reticular skin hyperpigmentation
  • heart/cardiac failure
  • cranial hypertension
  • obnubilation/coma/lethargia/desorientation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • cardiac rhythm disorder/arrhythmia
  • respiratory rhythm disorder
  • acute abdominal pain/colic
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • psychic/behavioural troubles
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • abnormal emg/electromyogram/electropmyography
  • hypocalcemia
  • hypercalciuria
  • asthenia/fatigue/weakness
  • dry/squaly skin/exfoliation
  • alopecia
  • nails anomalies
  • abnormal fingernails
  • myoclonus/fasciculations

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hypocalcemia, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Hypocalcemia, Autosomal Dominant

Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant

Search CenterWatch for Hypocalcemia, Autosomal Dominant

Genetic Tests for Hypocalcemia, Autosomal Dominant

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21GeneTests, 23GTR
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Genetic tests related to Hypocalcemia, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Autosomal Dominant Hypocalcemia21 CASR
2 Hypocalcemia, Autosomal Dominant23

Anatomical Context for Hypocalcemia, Autosomal Dominant

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34MalaCards
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MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:

34
Kidney, Skin, Heart

Animal Models for Hypocalcemia, Autosomal Dominant or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2GNA11, PRKAR1A, CASR
2MP:00053798.6CASR, CXADR, PRKAR1A, GNA11
3MP:00053908.5GNA11, PRKAR1A, CASR, GRM1
4MP:00053868.5GRM1, CASR, CXADR, GNA11
5MP:00053978.3GNA11, PRKAR1A, CXADR, CASR
6MP:00053698.1GRM1, CASR, CXADR, PRKAR1A, GNA11
7MP:00053768.1GNA11, PRKAR1A, CXADR, CASR, GRM1
8MP:00107687.8GRM1, CASR, CXADR, PRKAR1A, GNA11

Publications for Hypocalcemia, Autosomal Dominant

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Variations for Hypocalcemia, Autosomal Dominant

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant:

65 (show all 21)
id Symbol AA change Variation ID SNP ID
1CASRp.Ala116ThrVAR_003588
2CASRp.Glu127AlaVAR_003589
3CASRp.Gln681HisVAR_003598
4CASRp.Phe806SerVAR_003600
5CASRp.Leu616ValVAR_015414
6CASRp.Glu767LysVAR_021019
7CASRp.Lys47AsnVAR_058050
8CASRp.Asn118LysVAR_058051
9CASRp.Leu125ProVAR_058052
10CASRp.Phe128LeuVAR_058053
11CASRp.Cys131TrpVAR_058054
12CASRp.Thr151MetVAR_058055
13CASRp.Glu191LysVAR_058058
14CASRp.Glu604LysVAR_058070
15CASRp.Phe612SerVAR_058071
16CASRp.Leu727GlnVAR_058075
17CASRp.Leu773ArgVAR_058078
18CASRp.Phe788CysVAR_058079
19CASRp.Phe788LeuVAR_058080
20CASRp.Ser820PheVAR_058081
21CASRp.Ala843GluVAR_058082

Clinvar genetic disease variations for Hypocalcemia, Autosomal Dominant:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1PTHNM_000315.2(PTH): c.52T> C (p.Cys18Arg)single nucleotide variantPathogenicrs104894271GRCh37Chr 11, 13514351: 13514351
2PTHNM_000315.2(PTH): c.67T> C (p.Ser23Pro)single nucleotide variantPathogenicrs104894272GRCh37Chr 11, 13514336: 13514336
3CASRNM_000388.3(CASR): c.662C> T (p.Pro221Leu)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
4GCM2NM_004752.3(GCM2): c.140G> T (p.Arg47Leu)single nucleotide variantPathogenicrs104893959GRCh37Chr 6, 10877576: 10877576
5GCM2NM_004752.3(GCM2): c.187G> A (p.Gly63Ser)single nucleotide variantPathogenicrs104893960GRCh37Chr 6, 10877529: 10877529
6CASRNM_000388.3(CASR): c.380A> C (p.Glu127Ala)single nucleotide variantPathogenicrs121909260GRCh37Chr 3, 121976122: 121976122
7CASRNM_000388.3(CASR): c.2043G> T (p.Gln681His)single nucleotide variantPathogenicrs121909261GRCh37Chr 3, 122002844: 122002844
8CASRNM_000388.3(CASR): c.346G> A (p.Ala116Thr)single nucleotide variantPathogenicrs104893691GRCh37Chr 3, 121976088: 121976088
9CASRNM_000388.3(CASR): c.2417T> C (p.Phe806Ser)single nucleotide variantPathogenicrs104893693GRCh37Chr 3, 122003218: 122003218
10CASRNM_000388.3(CASR): c.452C> T (p.Thr151Met)single nucleotide variantPathogenicrs104893694GRCh37Chr 3, 121976194: 121976194
11CASRNM_000388.3(CASR): c.354C> A (p.Asn118Lys)single nucleotide variantPathogenicrs104893695GRCh37Chr 3, 121976096: 121976096
12CASRNM_000388.3(CASR): c.382T> C (p.Phe128Leu)single nucleotide variantPathogenicrs104893696GRCh37Chr 3, 121976124: 121976124
13CASRNM_000388.3(CASR): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs104893697GRCh37Chr 3, 121980453: 121980453
14CASRNM_000388.3(CASR): c.1835T> C (p.Phe612Ser)single nucleotide variantPathogenicrs104893698GRCh37Chr 3, 122002636: 122002636
15CASRNM_000388.3(CASR): c.2318T> G (p.Leu773Arg)single nucleotide variantPathogenicrs104893699GRCh37Chr 3, 122003119: 122003119
16CASRNM_000388.3(CASR): c.2363T> G (p.Phe788Cys)single nucleotide variantPathogenicrs104893701GRCh37Chr 3, 122003164: 122003164
17CASRNM_000388.3(CASR): c.141A> C (p.Lys47Asn)single nucleotide variantPathogenicrs104893702GRCh37Chr 3, 121973177: 121973177
18CASRNM_000388.3(CASR): c.1846C> G (p.Leu616Val)single nucleotide variantPathogenicrs104893703GRCh37Chr 3, 122002647: 122002647
19CASRCASR, 543-BP DEL, NT2682deletionPathogenic
20CASRNM_000388.3(CASR): c.2528C> A (p.Ala843Glu)single nucleotide variantPathogenicrs104893706GRCh37Chr 3, 122003329: 122003329
21CASRNM_000388.3(CASR): c.374T> C (p.Leu125Pro)single nucleotide variantPathogenicrs104893708GRCh37Chr 3, 121976116: 121976116
22CASRNM_000388.3(CASR): c.2459C> T (p.Ser820Phe)single nucleotide variantPathogenicrs104893710GRCh37Chr 3, 122003260: 122003260
23CASRNM_000388.3(CASR): c.2362T> C (p.Phe788Leu)single nucleotide variantPathogenicrs104893711GRCh37Chr 3, 122003163: 122003163
24CASRNM_000388.3(CASR): c.1810G> A (p.Glu604Lys)single nucleotide variantPathogenicrs104893712GRCh37Chr 3, 122002611: 122002611
25CASRNM_000388.3(CASR): c.2180T> A (p.Leu727Gln)single nucleotide variantPathogenicrs104893718GRCh37Chr 3, 122002981: 122002981

Expression for genes affiliated with Hypocalcemia, Autosomal Dominant

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypocalcemia, Autosomal Dominant

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

Pathways for genes affiliated with Hypocalcemia, Autosomal Dominant

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 5Cell Signaling Technology, 54QIAGEN, 31KEGG, 13EMD Millipore, 55R&D Systems
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Pathways related to Hypocalcemia, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5PRKAR1A, GNA11
2
Show member pathways
Development A1 receptor signaling61
G protein signaling G Protein alpha q signaling cascades61
9.5PRKAR1A, GNA11
39.5GNA11, PRKAR1A
49.5PRKAR1A, GNA11
5
Show member pathways
9.5GNA11, PRKAR1A
6
Show member pathways
9.5PRKAR1A, GNA11
7
Show member pathways
Signal transduction cAMP signaling61
9.5PRKAR1A, GNA11
8
Show member pathways
Development A2B receptor action via G protein alpha s61
9.5PRKAR1A, GNA11
9
Show member pathways
9.4GRM1, CASR
109.4GRM1, CASR
11
Show member pathways
9.4GRM1, GNA11
129.4GNA11, GRM1
13
Show member pathways
9.3GRM1, PRKAR1A
14
Show member pathways
9.0GRM1, CASR, GNA11
15
Show member pathways
9.0GNA11, PRKAR1A, CXADR
168.9GNA11, PRKAR1A, GRM1
17
Show member pathways
8.9GNA11, PRKAR1A, GRM1
18
Show member pathways
8.9GRM1, PRKAR1A, GNA11
19
Show member pathways
8.5GNA11, PRKAR1A, CASR, GRM1

Compounds for genes affiliated with Hypocalcemia, Autosomal Dominant

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46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Hypocalcemia, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1gadolinium469.8CASR, PRKAR1A
2spermine30 46 25 1212.7CASR, CXADR
31,25 dihydroxy vitamin d3469.6CASR, CXADR
4ganciclovir46 1210.4GRM1, CXADR
5inositol 1,4,5 trisphosphate469.4GRM1, CASR
6cinacalcet46 30 1211.4CASR, CXADR, PRKAR1A
7l-amino acid469.4PRKAR1A, CXADR, CASR
8neomycin469.3PRKAR1A, CXADR, CASR
9cpccoet46 3010.3GRM1, CASR, PRKAR1A
10adenylate469.2CASR, CXADR, PRKAR1A
11potassium46 25 1211.2GRM1, CASR, CXADR
12forskolin46 52 1211.1PRKAR1A, CASR, GRM1
13cyclic amp46 2510.1PRKAR1A, CASR, GRM1
14arginine469.0CASR, CXADR, PRKAR1A
15phenylalanine469.0CASR, CARS, CXADR
16nitric oxide46 25 1210.8CXADR, CASR, GRM1
17alanine468.6GRM1, CASR, CXADR
18vitamin d468.5PRKAR1A, CXADR, CARS, CASR
19glutamate467.9GRM1, CASR, CARS, CXADR, PRKAR1A
20cysteine467.9GRM1, CASR, CARS, CXADR, PRKAR1A
21calcium46 52 25 1210.8PRKAR1A, CXADR, CARS, CASR, GRM1

GO Terms for genes affiliated with Hypocalcemia, Autosomal Dominant

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17Gene Ontology
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Cellular components related to Hypocalcemia, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315949.1CXADR, PRKAR1A
2plasma membraneGO:0058867.9GRM1, CASR, CXADR, PRKAR1A, GNA11

Biological processes related to Hypocalcemia, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:0075079.5CXADR, GNA11
2blood coagulationGO:0075968.7CXADR, PRKAR1A, GNA11

Products for genes affiliated with Hypocalcemia, Autosomal Dominant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypocalcemia, Autosomal Dominant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet