MCID: HYP192
MIFTS: 45

Hypocalcemia, Autosomal Dominant malady

Nephrological, Endocrine categories

Summaries for Hypocalcemia, Autosomal Dominant

Sources:
47OMIM, 33MalaCards
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MalaCards: Hypocalcemia, Autosomal Dominant, also known as bartter syndrome with hypocalcemia, is related to hypercalcemia and hyperparathyroidism, neonatal, and has symptoms including myoclonus/fasciculations, hypotension and humour troubles/anxiety/depression/apathy/euphoria/irritability. 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, and related mouse phenotypes are muscle and pigmentation.

Description from OMIM:47 601198,615361

Aliases & Classifications for Hypocalcemia, Autosomal Dominant

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 22 47 45
bartter syndrome with hypocalcemia 49
autosomal dominant hypocalcemia 49
bartter syndrome type v 49
bartter syndrome type 5 49
ad hypocalcemia 49


External Ids:

ICD10 via Orphanet26 E26.8, E20.8

Related Diseases for Hypocalcemia, Autosomal Dominant

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to hypocalcemia, autosomal dominant

Clinical Features for Hypocalcemia, Autosomal Dominant

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

601198,615361

Clinical synopsis from OMIM:

601198

Symptoms:

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

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:

33
Kidney

Animal Models for Hypocalcemia, Autosomal Dominant or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant:

37
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

Sources:
51PubMed
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Articles related to Hypocalcemia, Autosomal Dominant:

(show all 19)
idTitleAuthorsYear
1
CASR gene activating mutations in two families with autosomal dominant hypocalcemia. (22789683)
2012
2
Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea. (20119591)
2010
3
Autosomal dominant hypoparathyroidism with severe hypomagnesemia and hypocalcemia, successfully treated with recombinant PTH and continuous subcutaneous magnesium infusion. (18556971)
2008
4
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. (17048213)
2006
5
A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. (15551332)
2005
6
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor. (15005845)
2004
7
CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (15241791)
2004
8
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. (12574188)
2003
9
A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms. (14519094)
2003
10
A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. (12733714)
2003
11
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain. (12162500)
2002
12
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. (11889203)
2002
13
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
14
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. (12191970)
2002
15
A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia. (11289719)
2001
16
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (11013439)
2000
17
Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. (11136551)
2000
18
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. (10770217)
2000
19
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. (9920108)
1999

Genetic Variations for Hypocalcemia, Autosomal Dominant

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hypocalcemia, Autosomal Dominant:

63 (show all 21)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene 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

Sources:
52QIAGEN, 4Cell Signaling Technology, 54Reactome, 30KEGG, 12EMD Millipore, 53R&D Systems, 38NCBI BioSystems Database
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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
Hide members
10.0GNA11
9
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 24HMDB
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Compounds related to Hypocalcemia, Autosomal Dominant according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1ganciclovir45 1111.4
2cpccoet45 2911.0CASR
3cinacalcet45 29 1111.9CASR
4l-amino acid459.9CASR
5glutamate459.9CASR
6vitamin d459.9CASR
7cysteine459.9CASR
8neomycin459.9CASR
9gadolinium459.9CASR
10phenylalanine459.8CASR
11calcium45 50 11 2412.8CASR
12potassium45 11 2411.8CASR
13forskolin45 50 1111.7CASR
14spermine45 29 11 2412.7CASR
15cyclic amp45 2410.7CASR
16adenylate459.4CASR

GO Terms for genes affiliated with Hypocalcemia, Autosomal Dominant

Sources:
16Gene Ontology
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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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypocalcemia, Autosomal Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet