MCID: FML068
MIFTS: 22

Familial Hypocalciuric Hypercalcemia malady

Genetic diseases category

Summaries for Familial Hypocalciuric Hypercalcemia

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: Familial Hypocalciuric Hypercalcemia, also known as familial benign hypercalcemia, 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.

Wikipedia:63 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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42NIH Rare Diseases, 60UMLS
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Classifications:

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


Aliases & Descriptions:

familial hypocalciuric hypercalcemia 42
familial benign hypercalcemia 42 60
hypocalciuric hypercalcemia, familial, type 1 60


Related Diseases for Familial Hypocalciuric Hypercalcemia

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17GeneCards, 18GeneDecks
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Diseases in the Hypocalciuric Hypercalcemia, Type I family:

familial hypocalciuric hypercalcemia Familial Hypocalciuric Hypercalcemia Type 1
Familial Hypocalciuric Hypercalcemia Type 3 Familial Hypocalciuric Hypercalcemia Type 2
Hypocalciuric Hypercalcemia, Type Ii

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

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia31.7CASR, NR1I3, CXADR, SPG7
2hyperparathyroidism31.4CASR, NR1I3, CXADR
3primary hyperparathyroidism31.2CXADR, NR1I3, CASR
4parathyroid adenoma30.3CXADR, CASR
5hypoparathyroidism30.3SPG7, CXADR, NR1I3, CASR
6familial hypocalciuric hypercalcemia type 310.6
7hypocalciuric hypercalcemia, type i10.5
8familial hypocalciuric hypercalcemia type 110.5
9familial hypocalciuric hypercalcemia type 210.4
10diffuse idiopathic skeletal hyperostosis10.2
11alkaptonuria10.2
12insulinoma10.2
13adenoma10.2
14breast cancer10.2
15hyperostosis10.2
16kabuki syndrome10.2
17hypocalciuric hypercalcemia, type ii10.2
18gastrinoma10.0CASR
19primary hyperoxaluria10.0CASR
20nephrocalcinosis10.0NR1I3, CASR
21secondary syphilis10.0NR1I3, CASR
22hypocalcemia, autosomal dominant10.0CASR, CXADR
23parathyroid carcinoma10.0CXADR, CASR
24nephrolithiasis10.0NR1I3, CASR
25hyperparathyroidism, neonatal10.0CASR, NR1I3, CXADR
26uremia10.0CASR, NR1I3, CXADR
27astrocytoma10.0CXADR, NR1I3, CASR
28secondary hyperparathyroidism of renal origin10.0SPG7, CXADR, NR1I3, CASR
29osteoporosis10.0SPG7, CXADR, NR1I3, CASR
30chronic kidney failure10.0SPG7, CXADR, NR1I3, CASR

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



Diseases related to familial hypocalciuric hypercalcemia

Clinical Features for Familial Hypocalciuric Hypercalcemia

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Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

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5CenterWatch, 41NIH 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

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Anatomical Context for Familial Hypocalciuric Hypercalcemia

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Animal Models for Familial Hypocalciuric Hypercalcemia or affiliated genes

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Publications for Familial Hypocalciuric Hypercalcemia

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Genetic Variations for Familial Hypocalciuric Hypercalcemia

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Expression for genes affiliated with Familial Hypocalciuric Hypercalcemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Familial Hypocalciuric Hypercalcemia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1gadolinium449.8NR1I3, CASR
2tcpobop449.8NR1I3, CXADR
3citco44 2810.7NR1I3, CXADR
4l-tryptophan44 28 11 2412.7CASR, NR1I3
5phosphorus449.7NR1I3, CASR
6clotrimazole44 28 11 2412.7CXADR, NR1I3
7androstane449.6CXADR, NR1I3
8phenytoin44 49 28 1112.6NR1I3, CXADR
9rifampicin44 28 5911.5CXADR, NR1I3
10phenobarbital44 28 1111.5CXADR, NR1I3
11mifepristone44 59 28 1112.4CXADR, NR1I3
12cinacalcet44 28 1111.3CXADR, NR1I3, CASR
13l-amino acid449.3CXADR, NR1I3, CASR
14spermine44 28 11 2412.3CXADR, NR1I3, CASR
15neomycin449.3CXADR, NR1I3, CASR
161,25 dihydroxy vitamin d3449.3CXADR, NR1I3, CASR
17calcitriol44 59 11 2412.3CASR, NR1I3, CXADR
18phenylalanine449.2CXADR, NR1I3, CASR
19ribonucleic acid449.2CXADR, NR1I3, CASR
20alanine449.0CXADR, NR1I3, CASR
21arginine448.9CASR, NR1I3, CXADR
22vitamin d448.7CASR, NR1I3, CXADR, SPG7
23lysine448.7SPG7, CXADR, NR1I3, CASR
24glutamate448.6SPG7, CXADR, NR1I3, CASR
25calcium44 49 11 2411.1SPG7, CXADR, NR1I3, CASR

GO Terms for genes affiliated with Familial Hypocalciuric Hypercalcemia

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet