MCID: FML068
MIFTS: 32

Familial Hypocalciuric Hypercalcemia malady

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

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 24GTR, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Familial Hypocalciuric Hypercalcemia:

Name: Familial Hypocalciuric Hypercalcemia 45 51 24
Familial Benign Hypercalcemia 45 51 65
Fbhh 45 51
Fbh 45 51
 
Fhh 45 51
Hypocalciuric Hypercalcemia, Familial, Type 1 65
Familial Benign Hypocalciuric Hypercalcemia 51

Characteristics:

Orphanet epidemiological data:

51
familial hypocalciuric hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 405
ICD10 via Orphanet28 E83.5
UMLS65 C0342637, C1809471

Summaries for Familial Hypocalciuric Hypercalcemia

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NIH Rare Diseases:45 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. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (Calcium Sensing Receptor). Affiliated tissues include bone, brain and heart.

Wikipedia:68 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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Diseases in the Familial Hypocalciuric Hypercalcemia family:

Hypocalciuric Hypercalcemia, Type I Hypocalciuric Hypercalcemia, Type Ii
Hypocalciuric Hypercalcemia, Familial, Type Iii

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1hypocalciuric hypercalcemia, type i12.2
2hypocalciuric hypercalcemia, familial, type iii11.9
3hypocalciuric hypercalcemia, type ii11.9
4thyroiditis10.5
5asthma10.4
6arthritis10.4
7lymphoma10.4
8rem sleep behavior disorder10.4
9rheumatoid arthritis10.2
10systemic lupus erythematosus10.2
11atopy10.2
12hepatocellular carcinoma10.2
13breast cancer10.2
14leprosy10.2
15psoriatic arthritis10.2
16cystic fibrosis10.2
17jervell and lange-nielsen syndrome10.2
18cryptorchidism10.2
19panic disorder10.2
20lipoma10.2
21cutaneous leishmaniasis10.2
22leukemia10.2
23osteoarthritis10.2
24post-transplant lymphoproliferative disease10.2
25congenital generalized lipodystrophy10.2
26inguinal hernia10.2
27migraine with aura10.2
28hand, foot and mouth disease10.2
29sarcoma10.2
30pyelonephritis10.2
31cardiac tamponade10.2
32myxedema10.2
33gastroparesis10.2
34aseptic meningitis10.2
35retroperitoneal sarcoma10.2
36graves' disease10.2
37urticaria10.2
38angioedema10.2
39trichomoniasis10.2
40glioblastoma multiforme10.2
41proctitis10.2
42purpura10.2
43histiocytosis10.2
44cerebritis10.2
45retinitis10.2
46mouth disease10.2
47dyslexia10.2
48kidney disease10.2
49acute pyelonephritis10.2
50paraplegia10.2

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Teriparatideapproved, investigational12952232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
2vitamin d1524
3Vitamins3857
4glucocorticoids3896
5Calcium, Dietary4678
6Bone Density Conservation Agents2600

Interventional clinical trials:

idNameStatusNCT IDPhase
1Studies of Inherited Diseases of MetabolismRecruitingNCT00001345
2Study 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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Anatomical Context for Familial Hypocalciuric Hypercalcemia

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MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

33
Bone, Brain, Heart, Lung, T cells, Nk cells, Endothelial

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 97)
idTitleAuthorsYear
1
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. (25985931)
2015
2
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. (24491487)
2014
3
Some more on preventing congenital heart block. (24035837)
2014
4
Frequency of and predictive factors for vascular invasion after radiofrequency ablation for hepatocellular carcinoma. (25397677)
2014
5
Primary Endocardial Fibroelastosis and Nonimmune Hydrops Fetalis: Case Report with Autopsy. (25517884)
2014
6
Differential expression of Notch1 intracellular domain and p21 proteins, and their clinical significance in gastric cancer. (24396472)
2014
7
Alterations in regional homogeneity of resting-state brain activity in mesial temporal lobe epilepsy. (23294137)
2013
8
Magnetic resonance spectroscopy imaging of lactate in patients with bipolar disorder. (23810640)
2013
9
Treating cutis verticis gyrata using skin expansion method. (22052001)
2012
10
A single-nucleotide polymorphism of CCR6 (rs3093024) is associated with susceptibility to rheumatoid arthritis but not ankylosing spondylitis, in a Taiwanese population. (22859539)
2012
11
Prasugrel for the treatment of coronary thrombosis: a review of pharmacological properties, indications for use and future development. (21143003)
2011
12
TRF2 and Apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage. (20655466)
2010
13
RUNX3 protein is overexpressed in human epithelial ovarian cancer. (18937968)
2009
14
Phosphorylation of claudin-5 and occludin by rho kinase in brain endothelial cells. (18187566)
2008
15
Serotonin transporter binding in eating disorders. (18165910)
2008
16
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. (17420323)
2007
17
Biogenesis of Afipia-containing phagosomes in non-professional phagocytes. (17306590)
2007
18
The vanilloid receptor TRPV1 is tonically activated in vivo and involved in body temperature regulation. (17392452)
2007
19
Modulation of granulocyte-endothelium interactions by antileukoproteinase: inhibition of anti-type II collagen antibody-induced leukocyte attachment to the synovial endothelium. (16776851)
2006
20
Canavan disease: studies on the knockout mouse. (16802706)
2006
21
Caspase-2 is activated at the CD95 death-inducing signaling complex in the course of CD95-induced apoptosis. (16822901)
2006
22
Characteristics of left ventricular diastolic function in patients with systolic heart failure: a Doppler tissue imaging study. (16153510)
2005
23
Tyrosine phosphorylation of paxillin affects the metastatic potential of human osteosarcoma. (15870699)
2005
24
alpha(v) integrins regulate cell proliferation through integrin-linked kinase (ILK) in ovarian cancer cells. (12642872)
2003
25
Differences in vasculature between pilocytic and anaplastic astrocytomas of childhood. (14595708)
2003
26
Modulation of NF-kappaB activity by exchange of dimers. (12820969)
2003
27
DMRT1 in a ratite bird: evidence for a role in sex determination and discovery of a putative regulatory element. (12900571)
2002
28
Early and persistent sensory-psychiatric symptoms in an inherited prion disease with a PrP P105L mutation. (12529802)
2002
29
Use of single point mutations in domain I of beta 2-glycoprotein I to determine fine antigenic specificity of antiphospholipid autoantibodies. (12471146)
2002
30
Rhinosporidiosis--a clinicopathological study of 34 cases. (12561989)
2001
31
Lipid rafts exist as stable cholesterol-independent microdomains in the brush border membrane of enterocytes. (11389144)
2001
32
The activated macrophage colony-stimulating factor (CSF-1) receptor as a predictor of poor outcome in advanced epithelial ovarian carcinoma. (11161859)
2001
33
Reduced vitamin B12 binding by transcobalamin II increases the risk of neural tube defects. (11259691)
2001
34
Autocrine stimulation of VEGFR-2 activates human leukemic cell growth and migration. (10953026)
2000
35
A case of nephrogenic diabetes insipidus caused by obstructive uropathy due to prostate cancer. (10731936)
2000
36
Dupuytren's disease. A model for the mechanism of fibrosis and its modulation by steroids. (10463754)
1999
37
Dysautonomia after traumatic brain injury: a forgotten syndrome? (10369820)
1999
38
Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. (10333372)
1999
39
Effects of growth hormone replacement therapy on IGF-related parameters and on the pituitary-gonadal axis in GH-deficient males. A double-blind, placebo-controlled crossover study. (9623518)
1998
40
Tumor necrosis factor-alpha in isolated perfusion systems in the treatment of cancer: the Rotterdam preclinical-clinical program. (9548606)
1998
41
Controlled trial of interleukin-2 infusions in patients infected with the human immunodeficiency virus. (8857018)
1996
42
The focal-adhesion vasodilator-stimulated phosphoprotein (VASP) binds to the proline-rich domain in vinculin. (8836115)
1996
43
Laparoscopically assisted penile revascularization for vasculogenic impotence. (7752356)
1995
44
A phase II trial of concomitant human interleukin-2 and interferon-alpha-2a in patients with disseminated malignant melanoma. (8318496)
1993
45
Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products. (1621929)
1992
46
Endothelium myeloperoxidase-antimyeloperoxidase interaction in vasculitis. (1336132)
1992
47
Letter: Constipation: a cause of urinary tract obstruction and infection. (1246799)
1976
48
Intrauterine intussusception as a cause of intestinal atresia; a contribution to the etiology of intestinal atresias. (13624975)
1958
49
Progress of Senile Cataract under Hygienic Care. (16692694)
1924
50

Variations for Familial Hypocalciuric Hypercalcemia

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Clinvar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.1058A> C (p.Glu353Ala)single nucleotide variantLikely pathogenicrs193922419GRCh37Chr 3, 121980940: 121980940
2CASRNM_000388.3(CASR): c.106G> A (p.Gly36Arg)single nucleotide variantLikely pathogenicrs193922420GRCh37Chr 3, 121973142: 121973142
3CASRNM_000388.3(CASR): c.1244G> A (p.Arg415Gln)single nucleotide variantLikely pathogenicrs193922421GRCh37Chr 3, 121981126: 121981126
4CASRNM_000388.3(CASR): c.1512_1515delGTTT (p.Phe505Argfs)deletionLikely pathogenicrs193922422GRCh37Chr 3, 121994793: 121994796
5CASRNM_000388.3(CASR): c.1525G> A (p.Gly509Arg)single nucleotide variantPathogenicrs193922423GRCh37Chr 3, 121994806: 121994806
6CASRNM_000388.3(CASR): c.166delG (p.Glu56Serfs)deletionLikely pathogenicrs193922424GRCh37Chr 3, 121973202: 121973202
7CASRNM_000388.3(CASR): c.1676C> A (p.Pro559His)single nucleotide variantLikely pathogenicrs193922425GRCh37Chr 3, 122001027: 122001027
8CASRNM_000388.3(CASR): c.1685G> C (p.Cys562Ser)single nucleotide variantLikely pathogenicrs193922426GRCh37Chr 3, 122001036: 122001036
9CASRNM_000388.3(CASR): c.1685_1686delGCinsCT (p.Cys562Ser)indelLikely pathogenicrs193922427GRCh37Chr 3, 122001036: 122001037
10CASRNM_000388.3(CASR): c.1884delC (p.Phe629Leufs)deletionLikely pathogenicrs193922429GRCh37Chr 3, 122002685: 122002685
11CASRNM_000388.3(CASR): c.2014C> A (p.Pro672Thr)single nucleotide variantLikely pathogenicrs193922431GRCh37Chr 3, 122002815: 122002815
12CASRNM_000388.3(CASR): c.206G> A (p.Arg69His)single nucleotide variantLikely pathogenicrs193922432GRCh37Chr 3, 121975948: 121975948
13CASRNM_000388.3(CASR): c.2243C> A (p.Pro748His)single nucleotide variantLikely pathogenicrs193922433GRCh38Chr 3, 122284197: 122284197
14CASRNM_000388.3(CASR): c.2254C> T (p.Arg752Cys)single nucleotide variantLikely pathogenicrs193922434GRCh37Chr 3, 122003055: 122003055
15CASRNM_000388.3(CASR): c.2435T> C (p.Leu812Pro)single nucleotide variantLikely pathogenicrs193922435GRCh37Chr 3, 122003236: 122003236
16CASRNM_000388.3(CASR): c.2489G> A (p.Gly830Asp)single nucleotide variantLikely pathogenicrs193922436GRCh37Chr 3, 122003290: 122003290
17CASRNM_000388.3(CASR): c.2644A> T (p.Lys882Ter)single nucleotide variantLikely pathogenicrs193922437GRCh37Chr 3, 122003445: 122003445
18CASRNM_000388.3(CASR): c.269A> C (p.Asn90Thr)single nucleotide variantLikely pathogenicrs193922439GRCh37Chr 3, 121976011: 121976011
19CASRNM_000388.3(CASR): c.3091G> A (p.Gly1031Ser)single nucleotide variantLikely pathogenicrs142704083GRCh37Chr 3, 122003892: 122003892
20CASRNM_000388.3(CASR): c.380A> G (p.Glu127Gly)single nucleotide variantLikely pathogenicrs121909260GRCh37Chr 3, 121976122: 121976122
21CASRNM_000388.3(CASR): c.496A> G (p.Ser166Gly)single nucleotide variantLikely pathogenicrs193922441GRCh37Chr 3, 121980378: 121980378
22CASRNM_000388.3(CASR): c.554delG (p.Arg185Glnfs)deletionLikely pathogenicrs193922442GRCh37Chr 3, 121980436: 121980436
23CASRNM_000388.3(CASR): c.643G> C (p.Asp215His)single nucleotide variantLikely pathogenicrs193922443GRCh37Chr 3, 121980525: 121980525
24CASRNM_000388.3(CASR): c.974G> A (p.Gly325Glu)single nucleotide variantLikely pathogenicrs193922444GRCh37Chr 3, 121980856: 121980856

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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Sources for Familial Hypocalciuric Hypercalcemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet