MCID: FML068
MIFTS: 31

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:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Familial Hypocalciuric Hypercalcemia:

Name: Familial Hypocalciuric Hypercalcemia 45 51
Familial Benign Hypercalcemia 45 51 65
Hypocalciuric Hypercalcemia, Familial, Type 1 65
Familial Benign Hypocalciuric Hypercalcemia 51
 
Fbhh 51
Fhh 51
Fbh 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
familial benign hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Orphanet51 405
ICD10 via Orphanet28 E83.5

Summaries for Familial Hypocalciuric Hypercalcemia

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NIH Rare Diseases:45 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 hypercalcemia and hyperparathyroidism. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (Calcium-Sensing Receptor). Affiliated tissues include bone, breast and kidney, and related mouse phenotype behavior/neurological.

Wikipedia:68 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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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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Drugs for Familial Hypocalciuric Hypercalcemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Teriparatideapproved, investigational12852232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
2vitamin d1463
3Calcium, Dietary3529

Interventional clinical trials:

idNameStatusNCT IDPhase
1Studies of Inherited Diseases of MetabolismRecruitingNCT00001345
2Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679

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:

33
Bone, Breast, Kidney

Animal Models for Familial Hypocalciuric Hypercalcemia or affiliated genes

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MGI Mouse Phenotypes related to Familial Hypocalciuric Hypercalcemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1CASR, CXADR, GNA11, SPG7

Publications for Familial Hypocalciuric Hypercalcemia

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Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor. (26019872)
2015
2
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. (26386835)
2015
3
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. (24894639)
2014
4
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
5
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female. (23531992)
2013
6
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (23222959)
2013
7
Familial hypocalciuric hypercalcemia: an atypical presentation. (22789152)
2013
8
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
9
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. (22315359)
2012
10
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. (21643651)
2012
11
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. (23077345)
2012
12
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. (22620673)
2012
13
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
14
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (21468522)
2011
15
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
16
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. (20495831)
2010
17
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
18
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
19
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. (19423460)
2009
20
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. (18430790)
2008
21
Familial hypocalciuric hypercalcemia: review of three cases. (22964128)
2008
22
Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. (17217434)
2007
23
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484)
2005
24
The estimated prevalence of familial hypocalciuric hypercalcemia (FHH). (12016464)
2002
25
Familial hypocalciuric hypercalcemia. (12521188)
2002
26
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. (11889203)
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:

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.1058A> C (p.Glu353Ala)single nucleotide variantLikely pathogenicrs193922419GRCh37Chr 3, 121980940: 121980940
2CASRNM_000388.3(CASR): c.106G> A (p.Gly36Arg)single nucleotide variantLikely pathogenicrs193922420GRCh37Chr 3, 121973142: 121973142
3CASRNM_000388.3(CASR): c.1244G> A (p.Arg415Gln)single nucleotide variantLikely pathogenicrs193922421GRCh37Chr 3, 121981126: 121981126
4CASRNM_000388.3(CASR): c.1512_1515delGTTT (p.Phe505Argfs)deletionLikely pathogenicrs193922422GRCh37Chr 3, 121994793: 121994796
5CASRNM_000388.3(CASR): c.1525G> A (p.Gly509Arg)single nucleotide variantPathogenicrs193922423GRCh37Chr 3, 121994806: 121994806
6CASRNM_000388.3(CASR): c.166delG (p.Glu56Serfs)deletionLikely pathogenicrs193922424GRCh37Chr 3, 121973202: 121973202
7CASRNM_000388.3(CASR): c.1676C> A (p.Pro559His)single nucleotide variantLikely pathogenicrs193922425GRCh37Chr 3, 122001027: 122001027
8CASRNM_000388.3(CASR): c.1685G> C (p.Cys562Ser)single nucleotide variantLikely pathogenicrs193922426GRCh37Chr 3, 122001036: 122001036
9CASRNM_000388.3(CASR): c.1685_1686delGCinsCT (p.Cys562Ser)indelLikely pathogenicrs193922427GRCh37Chr 3, 122001036: 122001037
10CASRNM_000388.3(CASR): c.1884delC (p.Phe629Leufs)deletionLikely pathogenicrs193922429GRCh37Chr 3, 122002685: 122002685
11CASRNM_000388.3(CASR): c.2014C> A (p.Pro672Thr)single nucleotide variantLikely pathogenicrs193922431GRCh37Chr 3, 122002815: 122002815
12CASRNM_000388.3(CASR): c.206G> A (p.Arg69His)single nucleotide variantLikely pathogenicrs193922432GRCh37Chr 3, 121975948: 121975948
13CASRNM_000388.3(CASR): c.2243C> A (p.Pro748His)single nucleotide variantLikely pathogenicrs193922433GRCh38Chr 3, 122284197: 122284197
14CASRNM_000388.3(CASR): c.2254C> T (p.Arg752Cys)single nucleotide variantLikely pathogenicrs193922434GRCh37Chr 3, 122003055: 122003055
15CASRNM_000388.3(CASR): c.2435T> C (p.Leu812Pro)single nucleotide variantLikely pathogenicrs193922435GRCh37Chr 3, 122003236: 122003236
16CASRNM_000388.3(CASR): c.2489G> A (p.Gly830Asp)single nucleotide variantLikely pathogenicrs193922436GRCh37Chr 3, 122003290: 122003290
17CASRNM_000388.3(CASR): c.2644A> T (p.Lys882Ter)single nucleotide variantLikely pathogenicrs193922437GRCh37Chr 3, 122003445: 122003445
18CASRNM_000388.3(CASR): c.269A> C (p.Asn90Thr)single nucleotide variantLikely pathogenicrs193922439GRCh37Chr 3, 121976011: 121976011
19CASRNM_000388.3(CASR): c.3091G> A (p.Gly1031Ser)single nucleotide variantLikely pathogenicrs142704083GRCh37Chr 3, 122003892: 122003892
20CASRNM_000388.3(CASR): c.380A> G (p.Glu127Gly)single nucleotide variantLikely pathogenicrs121909260GRCh37Chr 3, 121976122: 121976122
21CASRNM_000388.3(CASR): c.496A> G (p.Ser166Gly)single nucleotide variantLikely pathogenicrs193922441GRCh37Chr 3, 121980378: 121980378
22CASRNM_000388.3(CASR): c.554delG (p.Arg185Glnfs)deletionLikely pathogenicrs193922442GRCh37Chr 3, 121980436: 121980436
23CASRNM_000388.3(CASR): c.643G> C (p.Asp215His)single nucleotide variantLikely pathogenicrs193922443GRCh37Chr 3, 121980525: 121980525
24CASRNM_000388.3(CASR): c.974G> A (p.Gly325Glu)single nucleotide variantLikely pathogenicrs193922444GRCh37Chr 3, 121980856: 121980856
25AP2S1NM_004069.4(AP2S1): c.43C> T (p.Arg15Cys)single nucleotide variantPathogenicrs397514498GRCh37Chr 19, 47349360: 47349360
26AP2S1NM_004069.4(AP2S1): c.44G> T (p.Arg15Leu)single nucleotide variantPathogenicrs397514499GRCh37Chr 19, 47349359: 47349359
27AP2S1NM_004069.4(AP2S1): c.44G> A (p.Arg15His)single nucleotide variantPathogenicrs397514499GRCh37Chr 19, 47349359: 47349359
28GNA11NM_002067.4(GNA11): c.598_600delATC (p.Ile200del)deletionPathogenicrs672601249GRCh38Chr 19, 3115065: 3115067
29GNA11NM_002067.4(GNA11): c.404T> A (p.Leu135Gln)single nucleotide variantPathogenicrs587777019GRCh37Chr 19, 3113410: 3113410
30CASRNM_000388.3(CASR): c.662C> A (p.Pro221Gln)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
31CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)single nucleotide variantPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
32CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)single nucleotide variantPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
33CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)single nucleotide variantPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
34CASRCASR, ALU INS, CODON 877insertionPathogenic
35CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)single nucleotide variantPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
36CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
37CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
38CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)single nucleotide variantPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
39CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)single nucleotide variantPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
40CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)single nucleotide variantPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
41CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
42CASRNM_000388.3(CASR): c.186-1G> Tsingle nucleotide variantPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
43CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)single nucleotide variantPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
44CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
45CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)single nucleotide variantPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
46CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
47CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)single nucleotide variantPathogenicrs104893719GRCh37Chr 3, 122001008: 122001008

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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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:00075079.3CXADR, GNA11
2mitochondrion organizationGO:00070059.0CXADR, SPG7

Sources for Familial Hypocalciuric Hypercalcemia

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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