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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Familial Hypocalciuric Hypercalcemia:

Name: Familial Hypocalciuric Hypercalcemia 11 47 53 26
Familial Benign Hypercalcemia 11 47 53 67
Fbhh 11 47 53
Fbh 11 47 53
 
Fhh 11 47 53
Familial Benign Hypocalciuric Hypercalcemia 11 53
Hypocalciuric Hypercalcemia, Familial, Type 1 67
Hypercalcemia, Familial Benign 49

Characteristics:

Orphanet epidemiological data:

53
familial hypocalciuric hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0060699
ICD1029 E83.5
Orphanet53 ORPHA405
ICD10 via Orphanet30 E83.5

Summaries for Familial Hypocalciuric Hypercalcemia

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

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.

Wikipedia:70 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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Human phenotypes related to Familial Hypocalciuric Hypercalcemia:

 53 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalcemia53 Obligate (100%)
2 hypocalciuria53 Obligate (100%)
3 reduced ratio of renal calcium clearance to creatinine clearance53 Very frequent (99-80%)
4 parathormone-independent increased renal tubular calcium reabsorption53 Very frequent (99-80%)
5 osteomalacia53 Frequent (79-30%)
6 infantile hypercalcemia53 Frequent (79-30%)
7 renal hypophosphatemia53 Frequent (79-30%)
8 chondrocalcinosis53 Occasional (29-5%)
9 nausea and vomiting53 Occasional (29-5%)
10 headache53 Occasional (29-5%)
11 episodic abdominal pain53 Occasional (29-5%)
12 hypermagnesemia53 Occasional (29-5%)
13 peptic ulcer53 Occasional (29-5%)
14 fatigue53 Occasional (29-5%)
15 hypomagnesiuria53 Occasional (29-5%)
16 nephrolithiasis53 Very rare (<4-1%)
17 pancreatitis53 Very rare (<4-1%)
18 hypocalcemic seizures53 Very rare (<4-1%)
19 autoimmunity53 Very rare (<4-1%)
20 lipoma53 Very rare (<4-1%)
21 nephrocalcinosis53 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 Hypercalcemia26

Anatomical Context for Familial Hypocalciuric Hypercalcemia

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MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

35
Bone, 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 104)
idTitleAuthorsYear
1
Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3. (27761240)
2016
2
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
3
G-Protein Subunit-I+11 Loss-of-Function Mutation, Thr54Met, Causing Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). (26729423)
2016
4
Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia. (27087013)
2016
5
The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature. (27957351)
2016
6
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. (26386835)
2015
7
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation. (25993639)
2015
8
Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium. (25658165)
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)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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet