MCID: FML068
MIFTS: 38

Familial Hypocalciuric Hypercalcemia malady

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

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

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Sources:
11Disease Ontology, 27GTR, 30ICD10, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Familial Hypocalciuric Hypercalcemia:

Name: Familial Hypocalciuric Hypercalcemia 11 48 54 27
Familial Benign Hypercalcemia 11 48 54 68
Fbhh 11 48 54
Fbh 11 48 54
 
Fhh 11 48 54
Familial Benign Hypocalciuric Hypercalcemia 11 54
Hypocalciuric Hypercalcemia, Familial, Type 1 68
Hypercalcemia, Familial Benign 50

Characteristics:

Orphanet epidemiological data:

54
familial hypocalciuric hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0060699
ICD1030 E83.5
Orphanet54 ORPHA405
ICD10 via Orphanet31 E83.5

Summaries for Familial Hypocalciuric Hypercalcemia

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NIH Rare Diseases:48 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 and kidney.

Disease Ontology:11 A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.

Wikipedia:71 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 & Phenotypes for Familial Hypocalciuric Hypercalcemia

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Human phenotypes related to Familial Hypocalciuric Hypercalcemia:

 54 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalcemia54 Obligate (100%)
2 hypocalciuria54 Obligate (100%)
3 reduced ratio of renal calcium clearance to creatinine clearance54 Very frequent (99-80%)
4 parathormone-independent increased renal tubular calcium reabsorption54 Very frequent (99-80%)
5 osteomalacia54 Frequent (79-30%)
6 infantile hypercalcemia54 Frequent (79-30%)
7 renal hypophosphatemia54 Frequent (79-30%)
8 chondrocalcinosis54 Occasional (29-5%)
9 nausea and vomiting54 Occasional (29-5%)
10 headache54 Occasional (29-5%)
11 episodic abdominal pain54 Occasional (29-5%)
12 hypermagnesemia54 Occasional (29-5%)
13 peptic ulcer54 Occasional (29-5%)
14 fatigue54 Occasional (29-5%)
15 hypomagnesiuria54 Occasional (29-5%)
16 nephrolithiasis54 Very rare (<4-1%)
17 pancreatitis54 Very rare (<4-1%)
18 hypocalcemic seizures54 Very rare (<4-1%)
19 autoimmunity54 Very rare (<4-1%)
20 lipoma54 Very rare (<4-1%)
21 nephrocalcinosis54 Excluded (0%)

Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PlasminogenPhase 2236
2
Teriparatideapproved, investigational13552232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
3Vitamins5095
4vitamin d1653
5glucocorticoids4920
6Bone Density Conservation Agents3266
7Calcium, Dietary5525

Interventional clinical trials:

idNameStatusNCT IDPhase
1uPAR PET/CT for Staging Advanced and Localised Oral and Oropharyngeal CancerRecruitingNCT02960724Phase 2
2Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary HyperparathyroidismRecruitingNCT03027349
3Studies of Inherited Diseases of MetabolismRecruitingNCT00001345
4Study 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 Hypercalcemia27

Anatomical Context for Familial Hypocalciuric Hypercalcemia

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MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

36
Bone, Kidney

Publications for Familial Hypocalciuric Hypercalcemia

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Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. (27913609)
2017
2
Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3. (27761240)
2016
3
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
4
G-Protein Subunit-I+11 Loss-of-Function Mutation, Thr54Met, Causing Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). (26729423)
2016
5
Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia. (27087013)
2016
6
The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature. (27957351)
2016
7
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. (26963950)
2016
8
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. (26386835)
2015
9
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation. (25993639)
2015
10
Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium. (25658165)
2015
11
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor. (26019872)
2015
12
Familial hypocalciuric hypercalcemia associated with crystal deposition disease. (25444087)
2015
13
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. (24894639)
2014
14
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. (24731014)
2014
15
Familial hypocalciuric hypercalcemia and calcium sensing receptor. (25163238)
2014
16
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (23222959)
2013
17
Familial hypocalciuric hypercalcemia: an atypical presentation. (22789152)
2013
18
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
19
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female. (23531992)
2013
20
Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR). (23764372)
2013
21
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3. (24311792)
2013
22
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
23
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. (22315359)
2012
24
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. (21643651)
2012
25
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. (23077345)
2012
26
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. (22620673)
2012
27
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
28
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (21468522)
2011
29
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series. (22142470)
2011
30
Benign familial hypocalciuric hypercalcemia. (21478088)
2011
31
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. (20495831)
2010
32
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
33
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. (21034470)
2010
34
Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia. (20697181)
2010
35
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. (21175100)
2010
36
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. (19423460)
2009
37
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
38
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
39
Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. (19073830)
2009
40
Spontaneous rib fractures in a black woman with familial hypocalciuric hypercalcemia. (18830196)
2008
41
Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. (18787045)
2008
42
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. (18430790)
2008
43
Familial hypocalciuric hypercalcemia: review of three cases. (22964128)
2008
44
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
45
Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. (17217434)
2007
46
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. (17698911)
2007
47
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484)
2005
48
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. (15879434)
2005
49
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. (15662592)
2005
50
Familial hypocalciuric hypercalcemia in a woman with metastatic breast cancer: a case report of mistaken identity. (14602739)
2003

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)SNVPathogenicrs193922423GRCh37Chr 3, 121994806: 121994806
2CASRNM_000388.3(CASR): c.662C> A (p.Pro221Gln)SNVPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
3CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)SNVPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
4CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)SNVPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
5CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)SNVPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
6CASRCASR, ALU INS, CODON 877insertionPathogenicChr na, -1: -1
7CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)SNVPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
8CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)SNVPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
9CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)SNVPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
10CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)SNVPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
11CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)SNVPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
12CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)SNVPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
13CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)SNVPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
14CASRNM_000388.3(CASR): c.186-1G> TSNVPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
15CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)SNVPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
16CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)SNVPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
17CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)SNVPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
18CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)SNVPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
19CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)SNVPathogenicrs104893719GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet