MCID: FML068
MIFTS: 37

Familial Hypocalciuric Hypercalcemia malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

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Sources:
46NIH Rare Diseases, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Hypocalciuric Hypercalcemia:

Name: Familial Hypocalciuric Hypercalcemia 46 52 25
Familial Benign Hypercalcemia 46 52 66
Fbhh 46 52
Fbh 46 52
 
Fhh 46 52
Hypocalciuric Hypercalcemia, Familial, Type 1 66
Familial Benign Hypocalciuric Hypercalcemia 52

Characteristics:

Orphanet epidemiological data:

52
familial hypocalciuric hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA405
ICD10 via Orphanet29 E83.5

Summaries for Familial Hypocalciuric Hypercalcemia

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NIH Rare Diseases:46 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 hypocalciuric hypercalcemia, type i and hypocalciuric hypercalcemia, familial, type iii, and has symptoms including Array, Array and Array. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (Calcium Sensing Receptor). Affiliated tissues include bone, breast and kidney.

Wikipedia:69 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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Symptoms:

 52 (show all 21)
  • hypercalcemia
  • hypocalciuria
  • reduced ratio of renal calcium clearance to creatinine clearance
  • parathormone-independent increased renal tubular calcium reabsorption
  • osteomalacia
  • infantile hypercalcemia
  • renal hypophosphatemia
  • chondrocalcinosis
  • nausea and vomiting
  • headache
  • episodic abdominal pain
  • hypermagnesemia
  • peptic ulcer
  • fatigue
  • hypomagnesiuria
  • nephrolithiasis
  • pancreatitis
  • hypocalcemic seizures
  • autoimmunity
  • lipoma
  • nephrocalcinosis

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
1vitamin d1607
2
Teriparatide13052232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
3glucocorticoids4756

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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Genetic tests related to Familial Hypocalciuric Hypercalcemia:

id Genetic test Affiliating Genes
1 Familial Hypocalciuric Hypercalcemia25

Anatomical Context for Familial Hypocalciuric Hypercalcemia

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MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

34
Bone, Breast, Kidney

Animal Models for Familial Hypocalciuric Hypercalcemia or affiliated genes

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Publications for Familial Hypocalciuric Hypercalcemia

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Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene. (27418061)
2016
2
G-Protein Subunit-I+11 Loss-of-Function Mutation, Thr54Met, Causing Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). (26729423)
2016
3
Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia. (27087013)
2016
4
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. (26963950)
2016
5
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. (26386835)
2015
6
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation. (25993639)
2015
7
Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium. (25658165)
2015
8
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor. (26019872)
2015
9
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. (24894639)
2014
10
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. (24731014)
2014
11
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (23222959)
2013
12
Familial hypocalciuric hypercalcemia: an atypical presentation. (22789152)
2013
13
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
14
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
15
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. (22315359)
2012
16
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
17
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. (20495831)
2010
18
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. (19423460)
2009
19
Spontaneous rib fractures in a black woman with familial hypocalciuric hypercalcemia. (18830196)
2008
20
Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. (18787045)
2008
21
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. (17473068)
2007
22
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484)
2005
23
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. (15879434)
2005
24
Familial hypocalciuric hypercalcemia in a woman with metastatic breast cancer: a case report of mistaken identity. (14602739)
2003
25
The estimated prevalence of familial hypocalciuric hypercalcemia (FHH). (12016464)
2002
26
Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. (12469911)
2002
27
Parathyroidectomy in familial hypercalcemia with clinical characteristics of primary hyperparathyroidism and familial hypocalciuric hypercalcemia. (11894029)
2002
28
Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? (11889154)
2002
29
The prevalence of familial hypocalciuric hypercalcemia. (11353947)
2001
30
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. (11013439)
2000
31
The effect of calcium-sensing receptor gene polymorphisms on serum calcium levels: a familial hypocalciuric hypercalcemia family without mutation in the calcium-sensing receptor gene. (10811290)
2000
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
Familial hypocalciuric hypercalcemia in Israel: a preliminary report. (9192510)
1997
34
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. (7726161)
1995
35
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7493018)
1995
36
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (7916660)
1993
37
Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia. (8416480)
1993
38
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. (1302026)
1992
39
Renal tubular function in familial hypocalciuric hypercalcemia. (3608493)
1987
40
Familial hypocalciuric hypercalcemia: description of a new kindred with emphasis on its difference from primary hyperparathyroidism. (2985312)
1985
41
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. (3966479)
1985
42
Primary hyperparathyroidism: analysis of 220 patients with special emphasis on familial hypocalciuric hypercalcemia. (6559790)
1984
43
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. (6543841)
1984
44
Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism. (6874959)
1983
45
Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia. (7102625)
1982
46
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. (7054696)
1982
47
Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia. (7045673)
1982
48
The parathyroid glands in familial hypocalciuric hypercalcemia. (7228018)
1981
49
Familial hypocalciuric hypercalcemia. (7412788)
1980
50
Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (686009)
1978

Variations for Familial Hypocalciuric Hypercalcemia

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Clinvar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.1525G> A (p.Gly509Arg)single nucleotide variantPathogenicrs193922423GRCh37Chr 3, 121994806: 121994806
2CASRNM_000388.3(CASR): c.662C> A (p.Pro221Gln)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
3CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)single nucleotide variantPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
4CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)single nucleotide variantPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
5CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)single nucleotide variantPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
6CASRCASR, ALU INS, CODON 877insertionPathogenic
7CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)single nucleotide variantPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
8CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
9CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
10CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)single nucleotide variantPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
11CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)single nucleotide variantPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
12CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)single nucleotide variantPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
13CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
14CASRNM_000388.3(CASR): c.186-1G> Tsingle nucleotide variantPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
15CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)single nucleotide variantPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
16CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
17CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)single nucleotide variantPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
18CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
19CASRNM_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
1mitochondrion organizationGO:00070059.1CXADR, SPG7

Sources for Familial Hypocalciuric Hypercalcemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet