MCID: FML068
MIFTS: 37

Familial Hypocalciuric Hypercalcemia malady

Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Familial Hypocalciuric Hypercalcemia

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Familial hypocalciuric hypercalcemia (fhh) is a benign, inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). affected individuals usually do not have any signs or symptoms of the condition, and hypercalcemia is often diagnosed incidentally. in some individuals, weakness, fatigue, thought disturbance, and/or excessive thirst (polydipsia) have been reported. fhh is usually caused by mutations in the casr gene, although abnormalities in other, unidentified genes have been documented. it is inherited in an autosomal dominant manner. treatment is typically considered unnecessary because it is a benign condition. fhh can be difficult to distinguish from primary hyperparathyroidism, for which parathyroidectomy is typically performed; individuals with fhh are typically advised to avoid parathyroidectomy. last updated: 9/23/2011

MalaCards: Familial Hypocalciuric Hypercalcemia, also known as familial benign hypercalcemia, is related to hypercalcemia and hyperparathyroidism. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (calcium-sensing receptor). The compounds gadolinium and tcpobop have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast.

Wikipedia:66 Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia, a serum calcium level... more...

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

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44NIH Rare Diseases, 63UMLS
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Classifications:



Aliases & Descriptions:

familial hypocalciuric hypercalcemia 44
familial benign hypercalcemia 44 63
hypocalciuric hypercalcemia, familial, type 1 63


Related Diseases for Familial Hypocalciuric Hypercalcemia

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18GeneCards, 19GeneDecks
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Diseases in the Familial Hypocalciuric Hypercalcemia Type 3 family:

familial hypocalciuric hypercalcemia Familial Hypocalciuric Hypercalcemia Type 1
Familial Hypocalciuric Hypercalcemia Type 2 Hypocalciuric Hypercalcemia, Type I
Hypocalciuric Hypercalcemia, Type Ii

Diseases related to Familial Hypocalciuric Hypercalcemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia31.7CXADR, NR1I3, CASR, SPG7
2hyperparathyroidism31.4NR1I3, CASR, CXADR
3primary hyperparathyroidism31.3CXADR, NR1I3, CASR
4parathyroid adenoma30.4CASR, CXADR
5adenoma30.3CXADR, CASR, NR1I3
6hypoparathyroidism30.2CASR, NR1I3, CXADR, SPG7
7breast cancer30.2SPG7, CASR, CXADR, NR1I3
8familial hypocalciuric hypercalcemia type 310.7
9hypocalciuric hypercalcemia, type i10.6
10familial hypocalciuric hypercalcemia type 110.4
11familial hypocalciuric hypercalcemia type 210.4
12diffuse idiopathic skeletal hyperostosis10.3
13alkaptonuria10.3
14insulinoma10.3
15hyperostosis10.3
16kabuki syndrome10.3
17metastatic insulinoma10.3
18multiple endocrine neoplasia10.3
19hypocalciuric hypercalcemia, type ii10.3
20primary parathyroids hyperplasia10.3
21nephrocalcinosis10.0NR1I3, CASR
22nephrolithiasis10.0NR1I3, CASR
23hypocalcemia, autosomal dominant10.0CASR, CXADR
24parathyroid carcinoma10.0CASR, CXADR
25primary hyperoxaluria10.0CASR, NR1I3
26secondary syphilis10.0NR1I3, CASR
27cataract9.9CASR, CXADR
28hyperparathyroidism, neonatal9.9CASR, NR1I3, CXADR
29uremia9.9CASR, NR1I3, CXADR
30astrocytoma9.9CASR, CXADR, NR1I3
31secondary hyperparathyroidism of renal origin9.9SPG7, NR1I3, CASR, CXADR
32osteoporosis9.9NR1I3, CASR, CXADR, SPG7
33chronic kidney failure9.9CASR, NR1I3, SPG7, CXADR

Graphical network of the top 20 diseases related to Familial Hypocalciuric Hypercalcemia:



Diseases related to familial hypocalciuric hypercalcemia

Symptoms for Familial Hypocalciuric Hypercalcemia

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Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Familial Hypocalciuric Hypercalcemia

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Anatomical Context for Familial Hypocalciuric Hypercalcemia

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34MalaCards
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MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

34
Bone, Kidney, Breast

Animal Models for Familial Hypocalciuric Hypercalcemia or affiliated genes

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Publications for Familial Hypocalciuric Hypercalcemia

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53PubMed
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Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
2
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female. (23531992)
2013
3
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (23222959)
2013
4
Familial hypocalciuric hypercalcemia: an atypical presentation. (22789152)
2013
5
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
6
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. (22315359)
2012
7
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. (21643651)
2012
8
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. (23077345)
2012
9
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. (22620673)
2012
10
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
11
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (21468522)
2011
12
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. (20133464)
2010
13
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. (20495831)
2010
14
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
15
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. (19789209)
2009
16
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. (19423460)
2009
17
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. (18430790)
2008
18
Familial hypocalciuric hypercalcemia: review of three cases. (22964128)
2008
19
Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. (17217434)
2007
20
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484)
2005
21
Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia. (14714270)
2003
22
The estimated prevalence of familial hypocalciuric hypercalcemia (FHH). (12016464)
2002
23
Familial hypocalciuric hypercalcemia. (12521188)
2002
24
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. (11889203)
2002
25
Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. (12469911)
2002
26
The prevalence of familial hypocalciuric hypercalcemia. (11353947)
2001
27
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (11668634)
2001
28
Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium. (11033758)
2000
29
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (11013439)
2000
30
A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. (9298824)
1997
31
Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. (9217223)
1997
32
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (9109436)
1997
33
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (7726161)
1995
34
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7916660)
1993
35
Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia. (8416480)
1993
36
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. (1302026)
1992
37
Familial hypocalciuric hypercalcemia: description of a new kindred with emphasis on its difference from primary hyperparathyroidism. (2985312)
1985
38
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. (3966479)
1985
39
Primary hyperparathyroidism in infancy associated with familial hypocalciuric hypercalcemia. (6312730)
1983
40
Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism. (6843519)
1983
41
Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism. (6874959)
1983
42
Renal calcium handling in familial hypocalciuric hypercalcemia. (6645209)
1983
43
Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia. (7045673)
1982
44
Uncertainties in distinction of typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia. (7064472)
1982
45
Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia. (7102625)
1982
46
Maximal urine-concentrating ability: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (6259192)
1981
47
Adenosine 3',5'-monophosphate response to parathyroid hormone: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (6244324)
1980
48
Familial hypocalciuric hypercalcemia. (7412788)
1980
49
Circulating parathyroid hormone activity: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (233692)
1978
50
Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (686009)
1978

Variations for Familial Hypocalciuric Hypercalcemia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.662C> A (p.Pro221Gln)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
2CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)single nucleotide variantPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
3CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)single nucleotide variantPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
4CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)single nucleotide variantPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
5CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)single nucleotide variantPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
6CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
7CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)single nucleotide variantPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
8CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)single nucleotide variantPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
9CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)single nucleotide variantPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
10CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
11CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)single nucleotide variantPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
12CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
13CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)single nucleotide variantPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
14CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
15CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)single nucleotide variantPathogenicrs104893719GRCh37Chr 3, 122001008: 122001008
16CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562

Expression for genes affiliated with Familial Hypocalciuric Hypercalcemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Pathways for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Compounds for genes affiliated with Familial Hypocalciuric Hypercalcemia

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46Novoseek, 52PharmGKB, 30IUPHAR, 25HMDB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Familial Hypocalciuric Hypercalcemia according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1gadolinium469.7NR1I3, CASR
2tcpobop469.7NR1I3, CXADR
3l-tryptophan52 30 46 25 1213.7CASR, NR1I3
4citco46 3010.7NR1I3, CXADR
5phosphorus469.6CASR, NR1I3
6clotrimazole30 46 25 1212.6NR1I3, CXADR
7androstane469.6CXADR, NR1I3
8phenytoin46 52 30 1212.5CXADR, NR1I3
9rifampicin46 30 6211.5CXADR, NR1I3
10phenobarbital46 30 52 1212.4CXADR, NR1I3
11inositol 1,4,5 trisphosphate469.4NR1I3, CASR
12cinacalcet46 30 1211.2CXADR, CASR, NR1I3
13l-amino acid469.2CXADR, NR1I3, CASR
14mifepristone46 30 62 1212.2NR1I3, CXADR
15spermine30 46 25 1212.2CXADR, CASR, NR1I3
16neomycin469.2CXADR, CASR, NR1I3
171,25 dihydroxy vitamin d3469.2CXADR, CASR, NR1I3
18calcitriol46 62 25 1212.2CXADR, CASR, NR1I3
19phenylalanine469.2CASR, NR1I3, CXADR
20ribonucleic acid469.1CXADR, NR1I3, CASR
21arginine468.9CASR, CXADR, NR1I3
22alanine468.6CXADR, NR1I3, CASR
23vitamin d468.4SPG7, CASR, NR1I3, CXADR
24lysine468.4SPG7, CXADR, CASR, NR1I3
25glutamate468.4CASR, SPG7, CXADR, NR1I3
26calcium46 52 25 1211.2SPG7, CXADR, CASR, NR1I3

GO Terms for genes affiliated with Familial Hypocalciuric Hypercalcemia

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17Gene Ontology
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Biological processes related to Familial Hypocalciuric Hypercalcemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrion organizationGO:0070059.1CXADR, SPG7

Products for genes affiliated with Familial Hypocalciuric Hypercalcemia

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  • Antibodies
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Sources for Familial Hypocalciuric Hypercalcemia

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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