MCID: HYP192
MIFTS: 53

Hypocalcemia, Autosomal Dominant malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases categories
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Summaries for Hypocalcemia, Autosomal Dominant

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MalaCards based summary: Hypocalcemia, Autosomal Dominant, also known as bartter syndrome with hypocalcemia, is related to hyperparathyroidism and hypercalcemia, and has symptoms including myoclonus/fasciculations, paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness and psychic/behavioural troubles. 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.

Descriptions from OMIM:46 601198,615361

Aliases & Classifications for Hypocalcemia, Autosomal Dominant

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
See all sources

Hypocalcemia, Autosomal Dominant, Aliases & Descriptions:

Name: Hypocalcemia, Autosomal Dominant 42 20 22 46 44
Bartter Syndrome with Hypocalcemia 48
Autosomal Dominant Hypocalcemia 48
 
Bartter Syndrome Type V 48
Bartter Syndrome Type 5 48
Ad Hypocalcemia 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

ICD10 via Orphanet26 E26.8, E20.8

Related Diseases for Hypocalcemia, Autosomal Dominant

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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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Symptoms by clinical synopsis from OMIM:

601198

Clinical features from OMIM:

601198,615361

Symptoms:

48 (show all 26)
  • myoclonus/fasciculations
  • 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
  • acute abdominal pain/colic
  • respiratory rhythm disorder
  • cardiac rhythm disorder/arrhythmia
  • 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

HPO human phenotypes related to Hypocalcemia, Autosomal Dominant:

(show all 37)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 flexion contracture hallmark (90%) HP:0001371
3 hypercalciuria hallmark (90%) HP:0002150
4 hypocalcemia hallmark (90%) HP:0002901
5 paresthesia hallmark (90%) HP:0003401
6 emg abnormality hallmark (90%) HP:0003457
7 involuntary movements hallmark (90%) HP:0004305
8 nephrolithiasis typical (50%) HP:0000787
9 dry skin typical (50%) HP:0000958
10 abnormality of the fingernails typical (50%) HP:0001231
11 alopecia typical (50%) HP:0001596
12 abdominal pain typical (50%) HP:0002027
13 hypotension typical (50%) HP:0002615
14 abnormal pattern of respiration typical (50%) HP:0002793
15 hyperphosphatemia typical (50%) HP:0002905
16 arrhythmia typical (50%) HP:0011675
17 optic atrophy occasional (7.5%) HP:0000648
18 eczema occasional (7.5%) HP:0000964
19 congestive heart failure occasional (7.5%) HP:0001635
20 increased intracranial pressure occasional (7.5%) HP:0002516
21 reduced bone mineral density occasional (7.5%) HP:0004349
22 reduced consciousness/confusion occasional (7.5%) HP:0004372
23 irregular hyperpigmentation occasional (7.5%) HP:0007400
24 increased circulating renin level rare (5%) HP:0000848
25 hypokalemia rare (5%) HP:0002900
26 short stature rare (5%) HP:0004322
27 autosomal dominant inheritance HP:0000006
28 nephrocalcinosis HP:0000121
29 nephrolithiasis HP:0000787
30 seizures HP:0001250
31 tetany HP:0001281
32 basal ganglia calcification HP:0002135
33 hypercalciuria HP:0002150
34 hypomagnesemia HP:0002917
35 muscle cramps HP:0003394
36 paresthesia HP:0003401
37 abnormal renal physiology HP:0012211

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Hypocalcemia, Autosomal Dominant

Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant

Genetic Tests for Hypocalcemia, Autosomal Dominant

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Genetic tests related to Hypocalcemia, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Autosomal Dominant Hypocalcemia20 CASR
2 Hypocalcemia, Autosomal Dominant22

Anatomical Context for Hypocalcemia, Autosomal Dominant

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MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:

32
Kidney, Skin, Heart

Animal Models for Hypocalcemia, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant:

36
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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UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant:

64 (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:

6 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1GNA11NM_002067.4(GNA11): c.542G> A (p.Arg181Gln)single nucleotide variantPathogenicGRCh37Chr 19, 3115007: 3115007
2GNA11NM_002067.4(GNA11): c.1023C> G (p.Phe341Leu)single nucleotide variantPathogenicrs140749796GRCh38Chr 19, 3121122: 3121122
3GNA11NM_002067.4(GNA11): c.178C> T (p.Arg60Cys)single nucleotide variantPathogenicGRCh37Chr 19, 3110188: 3110188
4GNA11NM_002067.4(GNA11): c.632C> G (p.Ser211Trp)single nucleotide variantPathogenicGRCh37Chr 19, 3118948: 3118948
5CASRNM_000388.3(CASR): c.662C> T (p.Pro221Leu)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
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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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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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 signaling60
G protein signaling G Protein alpha q signaling cascades60
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 signaling60
9.5PRKAR1A, GNA11
8
Show member pathways
Development A2B receptor action via G protein alpha s60
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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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Hypocalcemia, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1gadolinium449.8CASR, PRKAR1A
2spermine28 44 24 1112.7CASR, CXADR
31,25 dihydroxy vitamin d3449.6CASR, CXADR
4ganciclovir44 1110.4GRM1, CXADR
5inositol 1,4,5 trisphosphate449.4GRM1, CASR
6cinacalcet44 28 1111.4CASR, CXADR, PRKAR1A
7l-amino acid449.4PRKAR1A, CXADR, CASR
8neomycin449.3PRKAR1A, CXADR, CASR
9cpccoet44 2810.3GRM1, CASR, PRKAR1A
10adenylate449.2CASR, CXADR, PRKAR1A
11potassium44 24 1111.2GRM1, CASR, CXADR
12forskolin44 50 1111.1PRKAR1A, CASR, GRM1
13cyclic amp44 2410.1PRKAR1A, CASR, GRM1
14arginine449.0CASR, CXADR, PRKAR1A
15phenylalanine449.0CASR, CARS, CXADR
16nitric oxide44 24 1110.8CXADR, CASR, GRM1
17alanine448.6GRM1, CASR, CXADR
18vitamin d448.5PRKAR1A, CXADR, CARS, CASR
19glutamate447.9GRM1, CASR, CARS, CXADR, PRKAR1A
20cysteine447.9GRM1, CASR, CARS, CXADR, PRKAR1A
21calcium44 50 24 1110.8PRKAR1A, CXADR, CARS, CASR, GRM1

GO Terms for genes affiliated with Hypocalcemia, Autosomal Dominant

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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

Sources for Hypocalcemia, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet