MCID: HYP192
MIFTS: 43

Hypocalcemia, Autosomal Dominant malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypocalcemia, Autosomal Dominant

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Aliases & Descriptions for Hypocalcemia, Autosomal Dominant:

Name: Hypocalcemia, Autosomal Dominant 49 11 45 47
Hypocalcemia, Autosomal Dominant 1 67 24 65
Autosomal Dominant Hypocalcemia 22 23 51
Autosomal Dominant Hypocalcemia with Bartter Syndrome 67 24
Familial Hypocalcemia 23 67
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 49
 
Autosomal Dominant Hypoparathyroidism 23
Familial Hypercalciuric Hypocalcemia 23
Hypercalciuric Hypocalcemia 67
Ad Hypocalcemia 51
Hypoc1 67
Adh 23

Characteristics:

Orphanet epidemiological data:

51
autosomal dominant hypocalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

HPO:

61
hypocalcemia, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 601198
Orphanet51 428
ICD10 via Orphanet28 E20.8
MeSH36 D006996
UMLS65 C3715128

Summaries for Hypocalcemia, Autosomal Dominant

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OMIM:49 Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH).... (601198) more...

MalaCards based summary: Hypocalcemia, Autosomal Dominant, also known as hypocalcemia, autosomal dominant 1, is related to hypocalcemia, autosomal dominant 2 and inappropriate adh syndrome, and has symptoms including behavioral abnormality, flexion contracture and hypercalciuria. An important gene associated with Hypocalcemia, Autosomal Dominant is CASR (Calcium Sensing Receptor), and among its related pathways are Development A2B receptor- action via G-protein alpha s and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include kidney, skin and bone, and related mouse phenotypes are pigmentation and muscle.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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.

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

Symptoms:

 51 (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 short stature rare (5%) HP:0004322
25 hypokalemia rare (5%) HP:0002900
26 increased circulating renin level rare (5%) HP:0000848
27 abnormal renal physiology HP:0012211
28 paresthesia HP:0003401
29 muscle cramps HP:0003394
30 hypomagnesemia HP:0002917
31 hypocalcemia HP:0002901
32 hypercalciuria HP:0002150
33 basal ganglia calcification HP:0002135
34 tetany HP:0001281
35 seizures HP:0001250
36 nephrolithiasis HP:0000787
37 nephrocalcinosis HP:0000121

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant

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Drugs for Hypocalcemia, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Calcium, DietaryPhase 24678
2
Teriparatideapproved, investigational12952232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
3Vitamins3857
4vitamin d1524
5glucocorticoids3896
6Bone Density Conservation Agents2600

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study to Determine the Effects of NPSP795 on the Calcium-sensing Receptor in Subjects With Autosomal Dominant Hypocalcemia as Measured by PTH Levels and Blood Calcium ConcentrationsCompletedNCT02204579Phase 2
2Hypoparathyroidism in DenmarkCompletedNCT01498341
3Characterization of Patients With Non-surgical Hypoparathyroidism and PseudohypoparathyroidismRecruitingNCT02551120
4Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679

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 Hypocalcemia22 CASR

Anatomical Context for Hypocalcemia, Autosomal Dominant

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MalaCards organs/tissues related to Hypocalcemia, Autosomal Dominant:

33
Kidney, Skin, Bone, Heart

Animal Models for Hypocalcemia, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Hypocalcemia, Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5CASR, GNA11, PRKAR1A
2MP:00053698.2CASR, CXADR, GNA11, GRM1, PRKAR1A

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:

67 (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:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.2482A> C (p.Thr828Pro)single nucleotide variantLikely pathogenicrs794729230GRCh38Chr 3, 122284436: 122284436
2CASRNM_000388.3(CASR): c.662C> T (p.Pro221Leu)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
3CASRNM_000388.3(CASR): c.380A> C (p.Glu127Ala)single nucleotide variantPathogenicrs121909260GRCh37Chr 3, 121976122: 121976122
4CASRNM_000388.3(CASR): c.2043G> T (p.Gln681His)single nucleotide variantPathogenicrs121909261GRCh37Chr 3, 122002844: 122002844
5CASRNM_000388.3(CASR): c.346G> A (p.Ala116Thr)single nucleotide variantPathogenicrs104893691GRCh37Chr 3, 121976088: 121976088
6CASRNM_000388.3(CASR): c.2417T> C (p.Phe806Ser)single nucleotide variantPathogenicrs104893693GRCh37Chr 3, 122003218: 122003218
7CASRNM_000388.3(CASR): c.452C> T (p.Thr151Met)single nucleotide variantPathogenicrs104893694GRCh37Chr 3, 121976194: 121976194
8CASRNM_000388.3(CASR): c.354C> A (p.Asn118Lys)single nucleotide variantPathogenicrs104893695GRCh37Chr 3, 121976096: 121976096
9CASRNM_000388.3(CASR): c.382T> C (p.Phe128Leu)single nucleotide variantPathogenicrs104893696GRCh37Chr 3, 121976124: 121976124
10CASRNM_000388.3(CASR): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs104893697GRCh37Chr 3, 121980453: 121980453
11CASRNM_000388.3(CASR): c.1835T> C (p.Phe612Ser)single nucleotide variantPathogenicrs104893698GRCh37Chr 3, 122002636: 122002636
12CASRNM_000388.3(CASR): c.2318T> G (p.Leu773Arg)single nucleotide variantPathogenicrs104893699GRCh37Chr 3, 122003119: 122003119
13CASRNM_000388.3(CASR): c.2363T> G (p.Phe788Cys)single nucleotide variantPathogenicrs104893701GRCh37Chr 3, 122003164: 122003164
14CASRNM_000388.3(CASR): c.141A> C (p.Lys47Asn)single nucleotide variantPathogenicrs104893702GRCh37Chr 3, 121973177: 121973177
15CASRNM_000388.3(CASR): c.1846C> G (p.Leu616Val)single nucleotide variantPathogenicrs104893703GRCh37Chr 3, 122002647: 122002647
16CASRNM_000388.3(CASR): c.2682_3224del543 (p.Ser895_Val1075del)deletionPathogenicGRCh38Chr 3, 122284636: 122285178
17CASRNM_000388.3(CASR): c.2528C> A (p.Ala843Glu)single nucleotide variantPathogenicrs104893706GRCh37Chr 3, 122003329: 122003329
18CASRNM_000388.3(CASR): c.374T> C (p.Leu125Pro)single nucleotide variantPathogenicrs104893708GRCh37Chr 3, 121976116: 121976116
19CASRNM_000388.3(CASR): c.2459C> T (p.Ser820Phe)single nucleotide variantPathogenicrs104893710GRCh37Chr 3, 122003260: 122003260
20CASRNM_000388.3(CASR): c.2362T> C (p.Phe788Leu)single nucleotide variantPathogenicrs104893711GRCh37Chr 3, 122003163: 122003163
21CASRNM_000388.3(CASR): c.1810G> A (p.Glu604Lys)single nucleotide variantPathogenicrs104893712GRCh37Chr 3, 122002611: 122002611
22CASRNM_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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Search GEO for disease gene expression data for Hypocalcemia, Autosomal Dominant.

Pathways for genes affiliated with Hypocalcemia, Autosomal Dominant

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GO Terms for genes affiliated with Hypocalcemia, Autosomal Dominant

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Sources for Hypocalcemia, Autosomal Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet