MCID: FML068
MIFTS: 31

Familial Hypocalciuric Hypercalcemia malady

Genetic category

Summaries for Familial Hypocalciuric Hypercalcemia

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43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Familial Hypocalciuric Hypercalcemia, also known as familial benign hypercalcemia, is related to hypercalcemia and primary 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 skeletal muscle, kidney and lung.

Wikipedia:64 Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia, a serum calcium level... more...

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial hypocalciuric hypercalcemia 43
familial benign hypercalcemia 43 61
hypocalciuric hypercalcemia, familial, type 1 61


Related Diseases for Familial Hypocalciuric Hypercalcemia

Sources:
17GeneCards, 18GeneDecks
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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 34)
idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia31.8CASR, SPG7, CXADR, NR1I3
2primary hyperparathyroidism31.3CXADR, NR1I3, CASR
3hyperparathyroidism, neonatal31.2CXADR, NR1I3, CASR
4hypocalcemia, autosomal dominant30.6CXADR, CASR
5hypoparathyroidism30.3CASR, NR1I3, SPG7, CXADR
6familial hypocalciuric hypercalcemia type 310.6
7hypocalciuric hypercalcemia, type i10.6
8familial hypocalciuric hypercalcemia type 110.5
9hyperparathyroidism, neonatal severe primary10.5
10familial hypocalciuric hypercalcemia type 210.4
11crohn's disease10.2
12diffuse idiopathic skeletal hyperostosis10.2
13alkaptonuria10.2
14insulinoma10.2
15n syndrome10.2
16adenoma10.2
17kabuki syndrome10.2
18familial breast cancer10.2
19metastatic insulinoma10.2
20multiple endocrine neoplasia10.2
21hypocalciuric hypercalcemia, type ii10.2
22gastrinoma10.0CASR
23primary hyperoxaluria10.0CASR
24nephrocalcinosis10.0NR1I3, CASR
25secondary syphilis10.0CASR, NR1I3
26parathyroid carcinoma10.0CASR, CXADR
27nephrolithiasis10.0NR1I3, CASR
28parathyroid adenoma10.0CXADR, CASR
29hyperparathyroidism10.0CXADR, CASR, NR1I3
30uremia10.0CASR, NR1I3, CXADR
31astrocytoma10.0CXADR, CASR, NR1I3
32secondary hyperparathyroidism of renal origin10.0CASR, CXADR, NR1I3, SPG7
33osteoporosis10.0CASR, NR1I3, CXADR, SPG7
34chronic kidney failure10.0CXADR, CASR, NR1I3, SPG7

Graphical network of the top 20 diseases related to Familial Hypocalciuric Hypercalcemia:



Diseases related to familial hypocalciuric hypercalcemia

Clinical Features for Familial Hypocalciuric Hypercalcemia

Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Familial Hypocalciuric Hypercalcemia

Anatomical Context for Familial Hypocalciuric Hypercalcemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

33
Skeletal muscle, Kidney, Lung, Breast

Animal Models for Familial Hypocalciuric Hypercalcemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Hypocalciuric Hypercalcemia

Sources:
51PubMed
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Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
2
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
3
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. (22315359)
2012
4
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (21468522)
2011
5
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series. (22142470)
2011
6
Benign familial hypocalciuric hypercalcemia. (21478088)
2011
7
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
8
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. (20495831)
2010
9
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. (21034470)
2010
10
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. (21175100)
2010
11
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. (19467900)
2009
12
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
13
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. (19423460)
2009
14
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. (18430790)
2008
15
Spontaneous rib fractures in a black woman with familial hypocalciuric hypercalcemia. (18830196)
2008
16
Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. (18787045)
2008
17
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
18
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene. (16642557)
2006
19
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. (15963484)
2005
20
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. (15572418)
2005
21
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. (15879434)
2005
22
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. (15662592)
2005
23
The estimated prevalence of familial hypocalciuric hypercalcemia (FHH). (12016464)
2002
24
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. (11889203)
2002
25
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor]. (11857921)
2002
26
Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? (11889154)
2002
27
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. (11668634)
2001
28
A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. (11762699)
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
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families. (10885494)
2000
32
Familial hypocalciuric hypercalcemia. (11706743)
2000
33
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
34
A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. (9298824)
1997
35
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
36
Parathyroid glands and the multiple endocrine neoplasia syndromes and familial hypocalciuric hypercalcemia. (9088067)
1997
37
Late-onset neonatal hypocalcemia as an unusual presentation in an offspring of a mother with familial hypocalciuric hypercalcemia. (9307091)
1997
38
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. (8636323)
1996
39
Primary hyperparathyroidism: analysis of 220 patients with special emphasis on familial hypocalciuric hypercalcemia. (6559790)
1984
40
Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism. (6874959)
1983
41
Renal calcium handling in familial hypocalciuric hypercalcemia. (6645209)
1983
42
Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia. (7045673)
1982
43
Uncertainties in distinction of typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia. (7064472)
1982
44
Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia. (7102625)
1982
45
Familial hypocalciuric hypercalcemia. Report of a new family. (6284831)
1982
46
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. (7054696)
1982
47
Familial hypocalciuric hypercalcemia. (7064473)
1982
48
Adenosine 3',5'-monophosphate response to parathyroid hormone: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (6244324)
1980
49
Familial hypocalciuric hypercalcemia: recognition among patients referred after unsuccessful parathyroid exploration. (7356229)
1980
50
Circulating parathyroid hormone activity: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. (233692)
1978

Genetic Variations for Familial Hypocalciuric Hypercalcemia

Expression for genes affiliated with Familial Hypocalciuric Hypercalcemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Hypocalciuric Hypercalcemia

Search GEO for disease gene expression data for Familial Hypocalciuric Hypercalcemia.

Pathways for genes affiliated with Familial Hypocalciuric Hypercalcemia

Compounds for genes affiliated with Familial Hypocalciuric Hypercalcemia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Familial Hypocalciuric Hypercalcemia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1gadolinium459.8NR1I3, CASR
2tcpobop459.8NR1I3, CXADR
3citco45 2910.7NR1I3, CXADR
4l-tryptophan45 29 11 2412.7CASR, NR1I3
5phosphorus459.7NR1I3, CASR
6clotrimazole45 29 11 2412.7CXADR, NR1I3
7androstane459.6CXADR, NR1I3
8phenytoin45 50 29 1112.6NR1I3, CXADR
9rifampicin45 29 6011.5CXADR, NR1I3
10phenobarbital45 29 1111.5CXADR, NR1I3
11mifepristone45 60 29 1112.4CXADR, NR1I3
12cinacalcet45 29 1111.3CXADR, NR1I3, CASR
13l-amino acid459.3CXADR, NR1I3, CASR
14spermine45 29 11 2412.3CXADR, NR1I3, CASR
15neomycin459.3CXADR, NR1I3, CASR
161,25 dihydroxy vitamin d3459.3CXADR, NR1I3, CASR
17calcitriol45 60 11 2412.3CASR, NR1I3, CXADR
18phenylalanine459.2CXADR, NR1I3, CASR
19ribonucleic acid459.2CXADR, NR1I3, CASR
20alanine459.0CXADR, NR1I3, CASR
21arginine458.9CASR, NR1I3, CXADR
22vitamin d458.7CASR, NR1I3, CXADR, SPG7
23lysine458.7SPG7, CXADR, NR1I3, CASR
24glutamate458.6SPG7, CXADR, NR1I3, CASR
25calcium45 50 11 2411.1SPG7, CXADR, NR1I3, CASR

GO Terms for genes affiliated with Familial Hypocalciuric Hypercalcemia

Sources:
16Gene Ontology
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Biological processes related to Familial Hypocalciuric Hypercalcemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrion organizationGO:0070059.3SPG7, CXADR

Products for genes affiliated with Familial Hypocalciuric Hypercalcemia

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Sources for Familial Hypocalciuric Hypercalcemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet