MCID: FML068
MIFTS: 38

Familial Hypocalciuric Hypercalcemia malady

Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Familial Hypocalciuric Hypercalcemia

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NIH Rare Diseases:42 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 hypocalciuric hypercalcemia, familial, type 1, is related to hypercalcemia and hyperparathyroidism. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (calcium-sensing receptor). The compounds gadolinium and tcpobop have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast.

Wikipedia:65 Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia, a serum calcium level... more...

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

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Familial Hypocalciuric Hypercalcemia, Aliases & Descriptions:

Name: Familial Hypocalciuric Hypercalcemia 42
Hypocalciuric Hypercalcemia, Familial, Type 1 62
 
Hypercalcemia, Familial Benign 62
Familial Benign Hypercalcemia 42


Classifications:



Related Diseases for Familial Hypocalciuric Hypercalcemia

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Diseases in the Familial Hypocalciuric Hypercalcemia Type 3 family:

familial hypocalciuric hypercalcemia Familial Hypocalciuric Hypercalcemia Type 1
Familial Hypocalciuric Hypercalcemia Type 2 Hypocalciuric Hypercalcemia, Type I
Hypocalciuric Hypercalcemia, Type Ii

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia31.2NR1I3, CASR, CXADR, SPG7
2hyperparathyroidism31.2NR1I3, CASR, CXADR
3primary hyperparathyroidism31.0NR1I3, CASR, CXADR
4parathyroid adenoma30.4CASR, CXADR
5adenoma29.9CXADR, CASR, NR1I3
6hypoparathyroidism29.8NR1I3, CASR, CXADR, SPG7
7breast cancer29.6SPG7, CXADR, CASR, NR1I3
8familial hypocalciuric hypercalcemia type 310.7
9hypocalciuric hypercalcemia, type i10.6
10familial hypocalciuric hypercalcemia type 110.4
11familial hypocalciuric hypercalcemia type 210.4
12insulinoma10.3
13diffuse idiopathic skeletal hyperostosis10.3
14alkaptonuria10.3
15hyperostosis10.3
16kabuki syndrome10.3
17metastatic insulinoma10.3
18multiple endocrine neoplasia10.3
19hypocalciuric hypercalcemia, type ii10.3
20primary parathyroids hyperplasia10.3
21nephrocalcinosis10.1NR1I3, CASR
22nephrolithiasis10.0CASR, NR1I3
23hypocalcemia, autosomal dominant10.0CASR, CXADR
24parathyroid carcinoma10.0CXADR, CASR
25primary hyperoxaluria10.0CASR, NR1I3
26secondary syphilis10.0NR1I3, CASR
27cataract9.8CASR, CXADR
28hyperparathyroidism, neonatal9.8NR1I3, CASR, CXADR
29uremia9.8NR1I3, CASR, CXADR
30astrocytoma9.7CXADR, CASR, NR1I3
31secondary hyperparathyroidism of renal origin9.6SPG7, CXADR, CASR, NR1I3
32osteoporosis9.5SPG7, CXADR, CASR, NR1I3
33chronic kidney failure9.5SPG7, CXADR, 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:

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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:

32
Bone, Kidney, Breast

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 92)
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
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (23222959)
2013
6
Familial hypocalciuric hypercalcemia: an atypical presentation. (22789152)
2013
7
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
8
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. (22315359)
2012
9
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. (21643651)
2012
10
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. (23077345)
2012
11
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. (22620673)
2012
12
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
13
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (21468522)
2011
14
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
15
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. (20495831)
2010
16
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
17
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
18
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. (19423460)
2009
19
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. (18430790)
2008
20
Familial hypocalciuric hypercalcemia: review of three cases. (22964128)
2008
21
Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. (17217434)
2007
22
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484)
2005
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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Expression for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Expression patterns in normal tissues for genes affiliated with Familial Hypocalciuric Hypercalcemia

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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/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1gadolinium449.7NR1I3, CASR
2tcpobop449.7NR1I3, CXADR
3l-tryptophan50 28 44 24 1113.7NR1I3, CASR
4citco44 2810.7CXADR, NR1I3
5phosphorus449.6NR1I3, CASR
6clotrimazole28 44 24 1112.6CXADR, NR1I3
7androstane449.6NR1I3, CXADR
8phenytoin44 50 28 1112.5NR1I3, CXADR
9rifampicin44 28 6111.5CXADR, NR1I3
10phenobarbital44 28 50 1112.4NR1I3, CXADR
11inositol 1,4,5 trisphosphate449.4NR1I3, CASR
12cinacalcet44 28 1111.2NR1I3, CASR, CXADR
13l-amino acid449.2NR1I3, CASR, CXADR
14mifepristone44 28 61 1112.2NR1I3, CXADR
15spermine28 44 24 1112.2NR1I3, CASR, CXADR
16neomycin449.2CXADR, CASR, NR1I3
171,25 dihydroxy vitamin d3449.2NR1I3, CASR, CXADR
18calcitriol44 61 24 1112.2CXADR, CASR, NR1I3
19phenylalanine449.2NR1I3, CASR, CXADR
20ribonucleic acid449.1CXADR, CASR, NR1I3
21arginine448.9CXADR, CASR, NR1I3
22alanine448.6NR1I3, CASR, CXADR
23vitamin d448.4SPG7, CXADR, CASR, NR1I3
24lysine448.4SPG7, CXADR, CASR, NR1I3
25glutamate448.4NR1I3, CASR, CXADR, SPG7
26calcium44 50 24 1111.2NR1I3, CASR, CXADR, SPG7

GO Terms for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Biological processes related to Familial Hypocalciuric Hypercalcemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrion organizationGO:0070059.1CXADR, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet