FBH
MCID: FML068
MIFTS: 46

Familial Hypocalciuric Hypercalcemia (FBH) malady

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

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

Aliases & Descriptions for Familial Hypocalciuric Hypercalcemia:

Name: Familial Hypocalciuric Hypercalcemia 12 50 56 29 14
Familial Benign Hypercalcemia 12 50 56 69
Fbhh 12 50 56
Fbh 12 50 56
Fhh 12 50 56
Familial Benign Hypocalciuric Hypercalcemia 12 56
Hypocalciuric Hypercalcemia, Familial, Type 1 69
Hypercalcemia, Familial Benign 52

Characteristics:

Orphanet epidemiological data:

56
familial hypocalciuric hypercalcemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060699
ICD10 33 E83.5
Orphanet 56 ORPHA405
ICD10 via Orphanet 34 E83.5

Summaries for Familial Hypocalciuric Hypercalcemia

NIH Rare Diseases : 50 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, and has symptoms including fatigue, headache and nausea and vomiting. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Signaling by Slit and Regulation of RhoA activity. The drugs Plasminogen and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and breast.

Disease Ontology : 12 A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.

Wikipedia : 71 Familial hypocalciuric hypercalcemia (FHH) is a condition that can cause hypercalcemia, a serum calcium... more...

Related Diseases for Familial Hypocalciuric Hypercalcemia

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 all 45)
id Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, type i 12.0
2 hypocalciuric hypercalcemia, familial, type iii 12.0
3 hypocalciuric hypercalcemia, type ii 11.9
4 hyperparathyroidism 10.6
5 epilepsy idiopathic generalized 8 10.2 CASR CXADR
6 striatonigral degeneration 10.2 CASR PTH
7 deafness, autosomal recessive 42 10.2 CASR GNA11
8 mesenchymal cell neoplasm 10.2 CASR PTH
9 waardenburg syndrome, type 4b 10.2 CASR PTH
10 listeria meningitis 10.2 CASR GNA11
11 pseudohypoparathyroidism ic 10.1 GNA11 PTH
12 gastric antral vascular ectasia 10.1 CASR PTH
13 pseudohypoparathyroidism, type ib 10.1 GNA11 PTH
14 pes anserinus tendinitis or bursitis 10.1 CASR PTH
15 hyperparathyroidism, familial primary 10.1 CASR CDC73
16 hypocalcemia, autosomal dominant 10.1 AP2S1 CASR GNA11
17 cerebrooculofacioskeletal syndrome 4 10.1 AP2S1 CASR GNA11
18 inflammatory bowel disease 6 10.1 AP2S1 CASR GNA11
19 tinea unguium 10.1 CASR PTH
20 weill-marchesani syndrome 10.1 CASR PTH
21 prediabetes syndrome 10.1 ARHGAP4 PTH
22 indian tick typhus 10.1 CASR PTH
23 parathyroid gland disease 10.1 CASR PTH SPG7
24 multiple endocrine neoplasia 10.0
25 central hypoventilation syndrome, congenital 10.0 CDC73 PTH
26 epidermolysis bullosa, junctional, herlitz type 10.0 CASR CDC73 PTH
27 cowper gland carcinoma 10.0 CASR CDC73 PTH
28 opioid abuse 10.0 CASR CDC73 PTH
29 parathyroid carcinoma 10.0 CASR CDC73 PTH
30 leukemia, acute promyelocytic, somatic 10.0 CASR CDC73 PTH
31 subserous uterine fibroid 10.0 CASR CDC73 PTH
32 pre-eclampsia 9.9 CASR PTH
33 immune system organ benign neoplasm 9.9 CDC73 PTH
34 diffuse idiopathic skeletal hyperostosis 9.9
35 parathyroid adenoma 9.9
36 metastatic insulinoma 9.9
37 breast cancer 9.9
38 alkaptonuria 9.9
39 insulinoma 9.9
40 hypoparathyroidism 9.9
41 chondrocalcinosis 9.9
42 neuroendocrine tumor 9.9
43 hyperostosis 9.9
44 adenoma 9.9
45 familial chronic myelocytic leukemia-like syndrome 8.7 AP2S1 ARHGAP4 CASR CDC73 CXADR FNBP1

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



Diseases related to Familial Hypocalciuric Hypercalcemia

Symptoms & Phenotypes for Familial Hypocalciuric Hypercalcemia

Human phenotypes related to Familial Hypocalciuric Hypercalcemia:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Occasional (29-5%) HP:0012378
2 headache 56 32 Occasional (29-5%) HP:0002315
3 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
4 autoimmunity 56 32 Very rare (<4-1%) HP:0002960
5 pancreatitis 56 32 Very rare (<4-1%) HP:0001733
6 nephrolithiasis 56 32 Very rare (<4-1%) HP:0000787
7 osteomalacia 56 32 Frequent (79-30%) HP:0002749
8 episodic abdominal pain 56 32 Occasional (29-5%) HP:0002574
9 peptic ulcer 56 32 Occasional (29-5%) HP:0004398
10 lipoma 56 32 Very rare (<4-1%) HP:0012032
11 chondrocalcinosis 56 32 Occasional (29-5%) HP:0000934
12 hypocalcemic seizures 56 32 Very rare (<4-1%) HP:0002199
13 renal hypophosphatemia 56 32 Frequent (79-30%) HP:0008732
14 parathormone-independent increased renal tubular calcium reabsorption 56 32 Very frequent (99-80%) HP:0003529
15 hypocalciuria 56 32 Obligate (100%) HP:0003127
16 reduced ratio of renal calcium clearance to creatinine clearance 56 32 Very frequent (99-80%) HP:0003513
17 infantile hypercalcemia 56 32 Frequent (79-30%) HP:0008250
18 hypermagnesemia 56 32 Occasional (29-5%) HP:0002918
19 hypomagnesiuria 56 32 Occasional (29-5%) HP:0012609
20 nephrocalcinosis 56 Excluded (0%)
21 hypercalcemia 56 Obligate (100%)

Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Plasminogen Phase 2
2
Teriparatide Approved, Investigational 52232-67-4 16133850
3 Liver Extracts
4 Arginine Vasopressin
5 Calcium, Dietary
6 vitamin d
7 glucocorticoids
8 Vitamins
9 Bone Density Conservation Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 uPAR PET/CT for Staging Advanced and Localised Oral and Oropharyngeal Cancer Recruiting NCT02960724 Phase 2
2 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
3 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
4 Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium Disorders Recruiting NCT02252679

Search NIH Clinical Center for Familial Hypocalciuric Hypercalcemia

Genetic Tests for Familial Hypocalciuric Hypercalcemia

Genetic tests related to Familial Hypocalciuric Hypercalcemia:

id Genetic test Affiliating Genes
1 Familial Hypocalciuric Hypercalcemia 29

Anatomical Context for Familial Hypocalciuric Hypercalcemia

MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

39
Bone, Kidney, Breast

Publications for Familial Hypocalciuric Hypercalcemia

Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50) (show all 106)
id Title Authors Year
1
Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. ( 28176280 )
2017
2
AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. ( 27913609 )
2017
3
Utility of Cinacalcet in Familial Hypocalciuric Hypercalcemia. ( 28459040 )
2017
4
G-Protein Subunit-I+11 Loss-of-Function Mutation, Thr54Met, Causing Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). ( 26729423 )
2016
5
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
6
Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3. ( 27761240 )
2016
7
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. ( 26963950 )
2016
8
A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism. ( 28222409 )
2016
9
The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature. ( 27957351 )
2016
10
Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia. ( 27087013 )
2016
11
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor. ( 26019872 )
2015
12
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation. ( 25993639 )
2015
13
Familial hypocalciuric hypercalcemia associated with crystal deposition disease. ( 25444087 )
2015
14
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. ( 26386835 )
2015
15
Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium. ( 25658165 )
2015
16
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. ( 24894639 )
2014
17
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. ( 24731014 )
2014
18
Familial hypocalciuric hypercalcemia and calcium sensing receptor. ( 25163238 )
2014
19
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. ( 23222959 )
2013
20
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female. ( 23531992 )
2013
21
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. ( 23425644 )
2013
22
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3. ( 24311792 )
2013
23
Familial hypocalciuric hypercalcemia: an atypical presentation. ( 22789152 )
2013
24
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
25
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. ( 22232026 )
2012
26
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. ( 22620673 )
2012
27
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. ( 22315359 )
2012
28
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. ( 21643651 )
2012
29
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. ( 23077345 )
2012
30
Benign familial hypocalciuric hypercalcemia. ( 21478088 )
2011
31
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series. ( 22142470 )
2011
32
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. ( 21785908 )
2011
33
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). ( 21468522 )
2011
34
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. ( 20495831 )
2010
35
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
36
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. ( 21175100 )
2010
37
Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia. ( 20697181 )
2010
38
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. ( 21034470 )
2010
39
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. ( 19423460 )
2009
40
Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. ( 19073830 )
2009
41
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. ( 19467900 )
2009
42
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
43
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. ( 18430790 )
2008
44
Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism. ( 18787045 )
2008
45
Familial hypocalciuric hypercalcemia: review of three cases. ( 22964128 )
2008
46
Spontaneous rib fractures in a black woman with familial hypocalciuric hypercalcemia. ( 18830196 )
2008
47
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
48
Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant. ( 17217434 )
2007
49
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
50
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. ( 15879434 )
2005

Variations for Familial Hypocalciuric Hypercalcemia

ClinVar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

6 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.1058A> C (p.Glu353Ala) single nucleotide variant Likely pathogenic rs193922419 GRCh37 Chromosome 3, 121980940: 121980940
2 CASR NM_000388.3(CASR): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs193922421 GRCh37 Chromosome 3, 121981126: 121981126
3 CASR NM_000388.3(CASR): c.1512_1515delGTTT (p.Phe505Argfs) deletion Likely pathogenic rs193922422 GRCh37 Chromosome 3, 121994793: 121994796
4 CASR NM_000388.3(CASR): c.1525G> A (p.Gly509Arg) single nucleotide variant Pathogenic rs193922423 GRCh37 Chromosome 3, 121994806: 121994806
5 CASR NM_000388.3(CASR): c.166delG (p.Glu56Serfs) deletion Likely pathogenic rs193922424 GRCh37 Chromosome 3, 121973202: 121973202
6 CASR NM_000388.3(CASR): c.1676C> A (p.Pro559His) single nucleotide variant Likely pathogenic rs193922425 GRCh37 Chromosome 3, 122001027: 122001027
7 CASR NM_000388.3(CASR): c.1685G> C (p.Cys562Ser) single nucleotide variant Likely pathogenic rs193922426 GRCh37 Chromosome 3, 122001036: 122001036
8 CASR NM_000388.3(CASR): c.1685_1686delGCinsCT (p.Cys562Ser) indel Likely pathogenic rs193922427 GRCh37 Chromosome 3, 122001036: 122001037
9 CASR NM_000388.3(CASR): c.1884delC (p.Phe629Leufs) deletion Likely pathogenic rs193922429 GRCh37 Chromosome 3, 122002685: 122002685
10 CASR NM_000388.3(CASR): c.2014C> A (p.Pro672Thr) single nucleotide variant Likely pathogenic rs193922431 GRCh37 Chromosome 3, 122002815: 122002815
11 CASR NM_000388.3(CASR): c.2243C> A (p.Pro748His) single nucleotide variant Likely pathogenic rs193922433 GRCh38 Chromosome 3, 122284197: 122284197
12 CASR NM_000388.3(CASR): c.2254C> T (p.Arg752Cys) single nucleotide variant Likely pathogenic rs193922434 GRCh37 Chromosome 3, 122003055: 122003055
13 CASR NM_000388.3(CASR): c.2435T> C (p.Leu812Pro) single nucleotide variant Likely pathogenic rs193922435 GRCh37 Chromosome 3, 122003236: 122003236
14 CASR NM_000388.3(CASR): c.2489G> A (p.Gly830Asp) single nucleotide variant Likely pathogenic rs193922436 GRCh37 Chromosome 3, 122003290: 122003290
15 CASR NM_000388.3(CASR): c.2644A> T (p.Lys882Ter) single nucleotide variant Likely pathogenic rs193922437 GRCh37 Chromosome 3, 122003445: 122003445
16 CASR NM_000388.3(CASR): c.269A> C (p.Asn90Thr) single nucleotide variant Likely pathogenic rs193922439 GRCh37 Chromosome 3, 121976011: 121976011
17 CASR NM_000388.3(CASR): c.3091G> A (p.Gly1031Ser) single nucleotide variant Likely pathogenic rs142704083 GRCh37 Chromosome 3, 122003892: 122003892
18 CASR NM_000388.3(CASR): c.380A> G (p.Glu127Gly) single nucleotide variant Likely pathogenic rs121909260 GRCh37 Chromosome 3, 121976122: 121976122
19 CASR NM_000388.3(CASR): c.496A> G (p.Ser166Gly) single nucleotide variant Likely pathogenic rs193922441 GRCh37 Chromosome 3, 121980378: 121980378
20 CASR NM_000388.3(CASR): c.554delG (p.Arg185Glnfs) deletion Likely pathogenic rs193922442 GRCh37 Chromosome 3, 121980436: 121980436
21 CASR NM_000388.3(CASR): c.643G> C (p.Asp215His) single nucleotide variant Likely pathogenic rs193922443 GRCh37 Chromosome 3, 121980525: 121980525
22 CASR NM_000388.3(CASR): c.974G> A (p.Gly325Glu) single nucleotide variant Likely pathogenic rs193922444 GRCh37 Chromosome 3, 121980856: 121980856

Expression for Familial Hypocalciuric Hypercalcemia

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

Pathways for Familial Hypocalciuric Hypercalcemia

Pathways related to Familial Hypocalciuric Hypercalcemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.84 GNA11 SRGAP1
2 10.62 ARHGAP4 SRGAP1
3 10.21 GNA11 PTH

GO Terms for Familial Hypocalciuric Hypercalcemia

Cellular components related to Familial Hypocalciuric Hypercalcemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 clathrin-coated pit GO:0005905 8.62 AP2S1 FNBP1

Biological processes related to Familial Hypocalciuric Hypercalcemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of signal transduction GO:0009967 9.16 ARHGAP4 PTH
2 Rho protein signal transduction GO:0007266 8.96 ARHGAP4 PTH
3 response to fibroblast growth factor GO:0071774 8.62 CASR PTH

Molecular functions related to Familial Hypocalciuric Hypercalcemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 ARHGAP4 SRGAP1

Sources for Familial Hypocalciuric Hypercalcemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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