MCID: FML068
MIFTS: 37

Familial Hypocalciuric Hypercalcemia malady

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

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
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Familial Hypocalciuric Hypercalcemia, Aliases & Descriptions:

Name: Familial Hypocalciuric Hypercalcemia 41 47
Familial Benign Hypercalcemia 41 47 60
Familial Benign Hypocalciuric Hypercalcemia 41 47
Fbhh 41 47
 
Fhh 41 47
Fbh 41 47
Hypocalciuric Hypercalcemia, Familial, Type 1 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial benign hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Orphanet47 405
ICD10 via Orphanet26 E83.5

Summaries for Familial Hypocalciuric Hypercalcemia

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NIH Rare Diseases:41 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 based summary: Familial Hypocalciuric Hypercalcemia, also known as familial benign hypercalcemia, is related to hyperparathyroidism and hypercalcemia. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (calcium-sensing receptor). The compounds gadolinium and l-tryptophan have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast, and related mouse phenotype behavior/neurological.

Wikipedia:63 Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia, a serum calcium level... more...

Related Diseases for Familial Hypocalciuric Hypercalcemia

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Diseases in the Familial Hypocalciuric Hypercalcemia family:

Hypocalciuric Hypercalcemia, Familial, Type Iii Hypocalciuric Hypercalcemia, Type I
Hypocalciuric Hypercalcemia, Type Ii

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism31.4CXADR, CASR, NR1I3
2hypercalcemia31.3SPG7, NR1I3, CASR, CXADR
3primary hyperparathyroidism31.3NR1I3, CASR, CXADR
4parathyroid adenoma30.6CASR, CXADR
5adenoma30.0NR1I3, CXADR, CASR
6hypoparathyroidism29.8NR1I3, CASR, CXADR, SPG7
7breast cancer29.6NR1I3, CASR, SPG7, CXADR
8hypocalciuric hypercalcemia, type i10.6
9hypocalciuric hypercalcemia, familial, type iii10.4
10hypocalciuric hypercalcemia, type ii10.4
11alkaptonuria10.3
12insulinoma10.3
13diffuse idiopathic skeletal hyperostosis10.3
14chondrocalcinosis10.3
15hyperostosis10.3
16metastatic insulinoma10.3
17multiple endocrine neoplasia10.3
18primary parathyroids hyperplasia10.3
19nephrocalcinosis10.1NR1I3, CASR
20hypocalcemia, autosomal dominant10.1CXADR, CASR
21parathyroid carcinoma10.1CASR, CXADR
22nephrolithiasis10.1CASR, NR1I3
23secondary syphilis10.1NR1I3, CASR
24primary hyperoxaluria10.1NR1I3, CASR
25mental retardation10.0
26hyperparathyroidism, neonatal9.9CXADR, NR1I3, CASR
27uremia9.9CASR, NR1I3, CXADR
28cataract9.9CASR, CXADR
29astrocytoma9.9NR1I3, CASR, CXADR
30secondary hyperparathyroidism of renal origin9.6SPG7, CXADR, CASR, NR1I3
31osteoporosis9.6NR1I3, CASR, CXADR, SPG7
32chronic kidney failure9.6CXADR, SPG7, CASR, NR1I3

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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Drug clinical trials:

Search ClinicalTrials for Familial Hypocalciuric Hypercalcemia

Search NIH Clinical Center for Familial Hypocalciuric Hypercalcemia

Genetic Tests for Familial Hypocalciuric Hypercalcemia

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Anatomical Context for Familial Hypocalciuric Hypercalcemia

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MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

31
Bone, Kidney, Breast

Animal Models for Familial Hypocalciuric Hypercalcemia or affiliated genes

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MGI Mouse Phenotypes related to Familial Hypocalciuric Hypercalcemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2CASR, CXADR, GNA11, SPG7

Publications for Familial Hypocalciuric Hypercalcemia

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Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. (24894639)
2014
2
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. (24731014)
2014
3
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
4
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female. (23531992)
2013
5
Familial hypocalciuric hypercalcemia: an atypical presentation. (22789152)
2013
6
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
7
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. (22315359)
2012
8
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. (21643651)
2012
9
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. (23077345)
2012
10
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. (22620673)
2012
11
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
12
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (21468522)
2011
13
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
14
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. (20495831)
2010
15
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
16
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
17
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. (19423460)
2009
18
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. (18430790)
2008
19
Familial hypocalciuric hypercalcemia: review of three cases. (22964128)
2008
20
Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. (17217434)
2007
21
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484)
2005
22
Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia. (14714270)
2003
23
The estimated prevalence of familial hypocalciuric hypercalcemia (FHH). (12016464)
2002
24
Familial hypocalciuric hypercalcemia. (12521188)
2002
25
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. (11889203)
2002
26
Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. (12469911)
2002
27
The prevalence of familial hypocalciuric hypercalcemia. (11353947)
2001
28
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (11668634)
2001
29
Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium. (11033758)
2000
30
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (11013439)
2000
31
A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. (9298824)
1997
32
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
33
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
34
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (7726161)
1995
35
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7916660)
1993
36
Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia. (8416480)
1993
37
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. (1302026)
1992
38
Familial hypocalciuric hypercalcemia: description of a new kindred with emphasis on its difference from primary hyperparathyroidism. (2985312)
1985
39
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. (3966479)
1985
40
Primary hyperparathyroidism in infancy associated with familial hypocalciuric hypercalcemia. (6312730)
1983
41
Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism. (6843519)
1983
42
Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism. (6874959)
1983
43
Renal calcium handling in familial hypocalciuric hypercalcemia. (6645209)
1983
44
Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia. (7045673)
1982
45
Uncertainties in distinction of typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia. (7064472)
1982
46
Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia. (7102625)
1982
47
Maximal urine-concentrating ability: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (6259192)
1981
48
Adenosine 3',5'-monophosphate response to parathyroid hormone: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (6244324)
1980
49
Familial hypocalciuric hypercalcemia. (7412788)
1980
50
Circulating parathyroid hormone activity: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (233692)
1978

Variations for Familial Hypocalciuric Hypercalcemia

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Clinvar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1AP2S1NM_004069.4(AP2S1): c.43C> T (p.Arg15Cys)single nucleotide variantPathogenicrs397514498GRCh37Chr 19, 47349360: 47349360
2AP2S1NM_004069.4(AP2S1): c.44G> T (p.Arg15Leu)single nucleotide variantPathogenicrs397514499GRCh37Chr 19, 47349359: 47349359
3AP2S1NM_004069.4(AP2S1): c.44G> A (p.Arg15His)single nucleotide variantPathogenicrs397514499GRCh37Chr 19, 47349359: 47349359
4GNA11NM_002067.4(GNA11): c.598_600delATC (p.Ile200del)deletionPathogenicGRCh38Chr 19, 3115065: 3115067
5GNA11NM_002067.4(GNA11): c.404T> A (p.Leu135Gln)single nucleotide variantPathogenicGRCh37Chr 19, 3113410: 3113410
6CASRNM_000388.3(CASR): c.662C> A (p.Pro221Gln)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
7CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)single nucleotide variantPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
8CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)single nucleotide variantPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
9CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)single nucleotide variantPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
10CASRCASR, ALU INS, CODON 877insertionPathogenic
11CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)single nucleotide variantPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
12CASRCASR, ARG228GLNundetermined variantPathogenic
13CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
14CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)single nucleotide variantPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
15CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)single nucleotide variantPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
16CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)single nucleotide variantPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
17CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
18CASRCASR, IVS2AS, G-T, -1single nucleotide variantPathogenic
19CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)single nucleotide variantPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
20CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
21CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)single nucleotide variantPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
22CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
23CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)single nucleotide variantPathogenicrs104893719GRCh37Chr 3, 122001008: 122001008
24CASRNM_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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Search GEO for disease gene expression data for Familial Hypocalciuric Hypercalcemia.

Pathways for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Compounds for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Compounds related to Familial Hypocalciuric Hypercalcemia according to GeneCards Suite gene sharing:

(show all 26)
idCompoundScoreTop Affiliating Genes
1gadolinium439.8CASR, NR1I3
2l-tryptophan49 28 43 24 1213.7CASR, NR1I3
3tcpobop439.7NR1I3, CXADR
4citco43 2810.7NR1I3, CXADR
5phosphorus439.6NR1I3, CASR
6clotrimazole28 43 24 1212.6NR1I3, CXADR
7androstane439.6CXADR, NR1I3
8phenytoin43 49 28 1212.5CXADR, NR1I3
9rifampicin43 28 5911.5CXADR, NR1I3
10phenobarbital43 28 49 1212.4CXADR, NR1I3
11inositol 1,4,5 trisphosphate439.4CASR, NR1I3
12mifepristone43 28 59 1212.4CXADR, NR1I3
13cinacalcet43 28 1211.3CXADR, CASR, NR1I3
14l-amino acid439.3CXADR, CASR, NR1I3
15spermine28 43 24 1212.3CXADR, NR1I3, CASR
16neomycin439.3CXADR, NR1I3, CASR
171,25 dihydroxy vitamin d3439.3NR1I3, CXADR, CASR
18calcitriol43 59 24 1212.2CXADR, CASR, NR1I3
19phenylalanine439.2CASR, NR1I3, CXADR
20ribonucleic acid439.2CXADR, NR1I3, CASR
21arginine438.9NR1I3, CASR, CXADR
22alanine438.6CXADR, NR1I3, CASR
23vitamin d438.5SPG7, CXADR, CASR, NR1I3
24lysine438.4SPG7, NR1I3, CASR, CXADR
25glutamate438.4SPG7, CXADR, NR1I3, CASR
26calcium43 49 24 1211.0NR1I3, SPG7, CXADR, CASR

GO Terms for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Biological processes related to Familial Hypocalciuric Hypercalcemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heart developmentGO:00075079.4CXADR, GNA11
2mitochondrion organizationGO:00070058.8CXADR, SPG7

Products for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Sources for Familial Hypocalciuric Hypercalcemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet