MCID: HYP192
MIFTS: 52

Hypocalcemia, Autosomal Dominant malady

Nephrological diseases, Endocrine diseases categories

Summaries for Hypocalcemia, Autosomal Dominant

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Hypocalcemia, Autosomal Dominant, also known as bartter syndrome with hypocalcemia, is related to hypercalcemia and hyperparathyroidism, 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 CREB Pathway and Development A2B receptor- action via G-protein alpha s. The compounds ganciclovir and cpccoet have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and heart, and related mouse phenotypes are muscle and pigmentation.

Description from OMIM:46 601198,615361

Aliases & Classifications for Hypocalcemia, Autosomal Dominant

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

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases, Endocrine diseases


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


Aliases & Descriptions:

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


External Ids:

ICD10 via Orphanet26 E26.8, E20.8

Related Diseases for Hypocalcemia, Autosomal Dominant

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Hypocalcemia, Autosomal Dominant:



Diseases related to hypocalcemia, autosomal dominant

Clinical Features for Hypocalcemia, Autosomal Dominant

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

601198,615361

Clinical synopsis from OMIM:

601198

Symptoms:

48 (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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:

32
Kidney, Skin, Heart

Animal Models for Hypocalcemia, Autosomal Dominant or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2GNA11, CASR
2MP:00011869.1CASR, GNA11
3MP:00053769.1GNA11, CASR
4MP:00053799.0CASR, GNA11
5MP:00053908.8CASR, GNA11

Publications for Hypocalcemia, Autosomal Dominant

About this section

Genetic Variations for Hypocalcemia, Autosomal Dominant

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hypocalcemia, Autosomal Dominant:

62 (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

Expression for genes affiliated with Hypocalcemia, Autosomal Dominant

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51QIAGEN, 4Cell Signaling Technology, 53Reactome, 29KEGG, 12EMD Millipore, 52R&D Systems, 37NCBI BioSystems Database
See all sources

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

(show top 12)    (show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0GNA11
2
Development A2B receptor- action via G-protein alpha s
10.0GNA11
310.0GNA11
4
Hide members
10.0GNA11
510.0GNA11
610.0GNA11
710.0GNA11
8
Development Hedgehog and PTH signaling pathways in bone and cartilage development
Hide members
10.0GNA11
9
Hide members
10.0GNA11
109.7CASR
11
Hide members
9.7CASR
12
Hide members
9.1GNA11, CASR

Compounds for genes affiliated with Hypocalcemia, Autosomal Dominant

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
See all sources

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

(show all 16)
idCompoundScoreTop Affiliating Genes
1ganciclovir44 1111.4
2cpccoet44 2811.0CASR
3cinacalcet44 28 1111.9CASR
4l-amino acid449.9CASR
5glutamate449.9CASR
6vitamin d449.9CASR
7cysteine449.9CASR
8neomycin449.9CASR
9gadolinium449.9CASR
10phenylalanine449.8CASR
11calcium44 49 11 2412.8CASR
12potassium44 11 2411.8CASR
13forskolin44 49 1111.7CASR
14spermine44 28 11 2412.7CASR
15cyclic amp44 2410.7CASR
16adenylate449.4CASR

GO Terms for genes affiliated with Hypocalcemia, Autosomal Dominant

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:03159410.2
2plasma membraneGO:0058869.1GNA11, CASR

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00759610.0GNA11

Products for genes affiliated with Hypocalcemia, Autosomal Dominant

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypocalcemia, Autosomal Dominant

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet