FBH
MCID: FML068
MIFTS: 48

Familial Hypocalciuric Hypercalcemia (FBH)

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

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia

MalaCards integrated aliases for Familial Hypocalciuric Hypercalcemia:

Name: Familial Hypocalciuric Hypercalcemia 12 53 59 37 29 6 15
Familial Benign Hypercalcemia 12 53 59 73
Fbhh 12 53 59
Fhh 12 53 59
Fbh 12 53 59
Familial Benign Hypocalciuric Hypercalcemia 12 59
Hypocalciuric Hypercalcemia, Familial, Type 1 73

Characteristics:

Orphanet epidemiological data:

59
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 59 ORPHA405
UMLS via Orphanet 74 C1809471
ICD10 via Orphanet 34 E83.5
KEGG 37 H02026

Summaries for Familial Hypocalciuric Hypercalcemia

NIH Rare Diseases : 53 Familial hypocalciuric hypercalcemia (FHH) is an inherited disorder that causes abnormally high levels of calcium in the blood (hypercalcemia) and low to moderate levels of calcium in urine (hypocalciuric). People with FHH usually do not have any symptoms and are often diagnosed by chance during routine bloodwork. Weakness, fatigue, issues with concentration, and excessive thirst (polydipsia) have been reported by some people with FHH. Rarely, people with this disorder experience inflammation of the pancreas (pancreatitis) or a buildup of calcium in the joints (chondrocalcinosis). FHH is mainly classified into three different types depending on the genetic cause. FHH type 1 is the most common type of FHH and is caused by changes (also known as pathogenic variants or mutations) in the CASR gene. The protein made from the CaSR gene, the calcium-sensing receptor (CaSR protein), monitors and regulates the level of calcium in the blood. FHH type 2 is caused by changes in the GNA11 gene, and FHH type 3 is caused by changes in the AP2S1 gene. All three types of FHH are inherited in an autosomal dominant manner. In rare cases, FHH may be caused when a person's immune system mistakenly makes antibodies that attack the CaSR protein. The autoimmune form of FHH is not known to be caused by changes in a specific gene. Diagnosis of FHH is suspected by high levels of calcium in the blood, especially when there are no other symptoms present. Further blood and urine tests may be used to rule out other possible causes. Genetic testing can confirm the diagnosis of FHH, except in rare autoimmune cases. Treatment is typically considered unnecessary because most people with FHH do not have symptoms. If pancreatitis occurs, removal of the parathyroid gland (parathyroidectomy) may be recommended.

MalaCards based summary : Familial Hypocalciuric Hypercalcemia, also known as familial benign hypercalcemia, is related to hypocalciuric hypercalcemia, familial, type i and hypocalciuric hypercalcemia, familial, type iii. An important gene associated with Familial Hypocalciuric Hypercalcemia is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Calcium signaling pathway and Endocrine and other factor-regulated calcium reabsorption. The drugs Plasminogen and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include testes, pancreas and bone, and related phenotypes are nausea and vomiting and fatigue

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

Wikipedia : 76 Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a... more...

Related Diseases for Familial Hypocalciuric Hypercalcemia

Diseases in the Familial Hypocalciuric Hypercalcemia family:

Hypocalciuric Hypercalcemia, Familial, Type I Hypocalciuric Hypercalcemia, Familial, 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)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type i 33.6 AP2S1 CASR GNA11 PTH
2 hypocalciuric hypercalcemia, familial, type iii 33.5 AP2S1 CASR GNA11 PTH
3 hypocalciuric hypercalcemia, familial, type ii 33.4 AP2S1 CASR GNA11 PTH
4 hyperparathyroidism 31.2 CASR CDC73 PTH
5 primary hyperparathyroidism 31.1 CASR CDC73 PTH
6 hypocalcemia, autosomal dominant 1 30.4 CASR GNA11 PTH
7 secondary hyperparathyroidism of renal origin 30.3 CASR PTH
8 chondrocalcinosis 30.2 AP2S1 CASR GNA11
9 hypoparathyroidism 30.1 CASR PTH SPG7
10 parathyroid adenoma 30.0 CASR CDC73 PTH
11 hyperparathyroidism, neonatal severe 11.7
12 multiple endocrine neoplasia 10.2
13 hypoparathyroidism, familial isolated 10.1 CASR PTH
14 calciphylaxis 10.1 CASR PTH
15 hypercalcemia, infantile, 1 10.1 CASR PTH
16 osteitis fibrosa 10.1 CASR PTH
17 pseudopseudohypoparathyroidism 10.1 GNA11 PTH
18 phosphorus metabolism disease 10.1 CASR PTH
19 hyperparathyroidism 2 with jaw tumors 10.1 CASR CDC73
20 metal metabolism disorder 10.1 CASR PTH
21 renal osteodystrophy 10.1 CASR PTH
22 mineral metabolism disease 10.1 CASR PTH
23 breast cancer 10.1
24 kabuki syndrome 1 10.1
25 alkaptonuria 10.1
26 hyperparathyroidism, primary, caused by water clear cell hyperplasia 10.1
27 insulinoma 10.1
28 rickets 10.1
29 neuroendocrine tumor 10.1
30 hyperostosis 10.1
31 adenoma 10.1
32 diffuse idiopathic skeletal hyperostosis 10.1
33 metastatic insulinoma 10.1
34 hyperphosphatemia 10.1 CASR PTH
35 connective tissue benign neoplasm 10.0 CDC73 PTH
36 osteomalacia 10.0 CASR PTH
37 impaired renal function disease 10.0 ARHGAP4 PTH
38 multiple endocrine neoplasia, type iia 10.0 CDC73 PTH
39 diabetes insipidus, nephrogenic, autosomal 10.0 ARHGAP4 CASR
40 familial isolated hyperparathyroidism 10.0 CASR CDC73 PTH
41 parathyroid gland disease 10.0 CASR CDC73 PTH
42 parathyroid carcinoma 10.0 CASR CDC73 PTH
43 multiple endocrine neoplasia, type i 10.0 CASR CDC73 PTH
44 uremia 9.9 CASR PTH
45 cell type benign neoplasm 9.9 CDC73 PTH

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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
2 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
3 autoimmunity 59 32 very rare (1%) Very rare (<4-1%) HP:0002960
4 pancreatitis 59 32 very rare (1%) Very rare (<4-1%) HP:0001733
5 nephrolithiasis 59 32 very rare (1%) Very rare (<4-1%) HP:0000787
6 osteomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0002749
7 episodic abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002574
8 peptic ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0004398
9 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
10 lipoma 59 32 very rare (1%) Very rare (<4-1%) HP:0012032
11 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
12 hypocalciuria 59 32 obligate (100%) Obligate (100%) HP:0003127
13 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
14 renal hypophosphatemia 59 32 frequent (33%) Frequent (79-30%) HP:0008732
15 parathormone-independent increased renal tubular calcium reabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0003529
16 reduced ratio of renal calcium clearance to creatinine clearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0003513
17 infantile hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0008250
18 hypermagnesemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002918
19 hypomagnesiuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0012609
20 nephrocalcinosis 59 Excluded (0%)
21 hypercalcemia 59 Obligate (100%)

Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Plasminogen Phase 2
2
Lithium carbonate Approved 554-13-2
3
Denosumab Approved 615258-40-7
4
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
5
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
7 Liver Extracts
8 Arginine Vasopressin
9 Calcium, Dietary
10 Ergocalciferols
11 Bone Density Conservation Agents
12 Vitamin D2
13 Calciferol
14 Vitamins
15 Cinacalcet Hydrochloride
16 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 uPAR PET/CT for Staging Advanced and Localised Oral and Oropharyngeal Cancer Unknown status 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 Reliability of Serum Calcium to Phosphorus (Ca/P) Ratio as an Accurate and Inexpensive Tool to Define Disorders of Ca-P Metabolism Completed NCT03603444
4 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345

Search NIH Clinical Center for Familial Hypocalciuric Hypercalcemia

Genetic Tests for Familial Hypocalciuric Hypercalcemia

Genetic tests related to Familial Hypocalciuric Hypercalcemia:

# Genetic test Affiliating Genes
1 Familial Hypocalciuric Hypercalcemia 29

Anatomical Context for Familial Hypocalciuric Hypercalcemia

MalaCards organs/tissues related to Familial Hypocalciuric Hypercalcemia:

41
Testes, Pancreas, Bone, Kidney, Breast

Publications for Familial Hypocalciuric Hypercalcemia

Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50) (show all 132)
# Title Authors Year
1
Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism. ( 29115694 )
2018
2
Familial hypocalciuric hypercalcemia and related disorders. ( 30449544 )
2018
3
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia. ( 30530875 )
2018
4
Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism. ( 30554440 )
2018
5
Calcimimetic Use in Familial Hypocalciuric Hypercalcemia - A Perspective in Endocrinology. ( 28945857 )
2017
6
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function GI+11 Mutation. ( 28833550 )
2017
7
AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. ( 27913609 )
2017
8
Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. ( 28176280 )
2017
9
Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient. ( 28690912 )
2017
10
Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene. ( 28620806 )
2017
11
Familial Hypocalciuric Hypercalcemia (FHH) ( 29083672 )
2017
12
Utility of Cinacalcet in Familial Hypocalciuric Hypercalcemia. ( 28459040 )
2017
13
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
14
G-Protein Subunit-I+11 Loss-of-Function Mutation, Thr54Met, Causing Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). ( 26729423 )
2016
15
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. ( 26963950 )
2016
16
A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism. ( 28222409 )
2016
17
Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia. ( 27087013 )
2016
18
The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature. ( 27957351 )
2016
19
Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3. ( 27761240 )
2016
20
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation. ( 25993639 )
2015
21
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. ( 26386835 )
2015
22
Familial hypocalciuric hypercalcemia associated with crystal deposition disease. ( 25444087 )
2015
23
Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium. ( 25658165 )
2015
24
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor. ( 26019872 )
2015
25
Familial hypocalciuric hypercalcemia and calcium sensing receptor. ( 25163238 )
2014
26
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. ( 24731014 )
2014
27
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. ( 24894639 )
2014
28
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. ( 23222959 )
2013
29
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. ( 23425644 )
2013
30
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female. ( 23531992 )
2013
31
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
32
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3. ( 24311792 )
2013
33
Familial hypocalciuric hypercalcemia: an atypical presentation. ( 22789152 )
2013
34
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. ( 22620673 )
2012
35
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. ( 23077345 )
2012
36
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. ( 21643651 )
2012
37
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. ( 22315359 )
2012
38
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. ( 22232026 )
2012
39
Benign familial hypocalciuric hypercalcemia. ( 21478088 )
2011
40
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series. ( 22142470 )
2011
41
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). ( 21468522 )
2011
42
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. ( 21785908 )
2011
43
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. ( 20495831 )
2010
44
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a &amp;lt;3.5 megabase pair region on chromosome 19q13.3. ( 20133464 )
2010
45
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. ( 21175100 )
2010
46
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. ( 21034470 )
2010
47
Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia. ( 20697181 )
2010
48
Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. ( 19073830 )
2009
49
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
50
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. ( 19423460 )
2009

Variations for Familial Hypocalciuric Hypercalcemia

ClinVar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_001178065.1(CASR): c.2986G> T (p.Ala996Ser) single nucleotide variant Benign rs1801725 GRCh37 Chromosome 3, 122003757: 122003757
2 CASR NM_001178065.1(CASR): c.2986G> T (p.Ala996Ser) single nucleotide variant Benign rs1801725 GRCh38 Chromosome 3, 122284910: 122284910
3 CASR NM_000388.3(CASR): c.1058A> C (p.Glu353Ala) single nucleotide variant Likely pathogenic rs193922419 GRCh37 Chromosome 3, 121980940: 121980940
4 CASR NM_000388.3(CASR): c.1058A> C (p.Glu353Ala) single nucleotide variant Likely pathogenic rs193922419 GRCh38 Chromosome 3, 122262093: 122262093
5 CASR NM_000388.3(CASR): c.106G> A (p.Gly36Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs193922420 GRCh37 Chromosome 3, 121973142: 121973142
6 CASR NM_000388.3(CASR): c.106G> A (p.Gly36Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs193922420 GRCh38 Chromosome 3, 122254295: 122254295
7 CASR NM_000388.3(CASR): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs193922421 GRCh37 Chromosome 3, 121981126: 121981126
8 CASR NM_000388.3(CASR): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs193922421 GRCh38 Chromosome 3, 122262279: 122262279
9 CASR NM_000388.3(CASR): c.1333A> G (p.Thr445Ala) single nucleotide variant Benign/Likely benign rs12493789 GRCh37 Chromosome 3, 121981215: 121981215
10 CASR NM_000388.3(CASR): c.1333A> G (p.Thr445Ala) single nucleotide variant Benign/Likely benign rs12493789 GRCh38 Chromosome 3, 122262368: 122262368
11 CASR NM_000388.3(CASR): c.1512_1515delGTTT (p.Phe505Argfs) deletion Likely pathogenic rs193922422 GRCh37 Chromosome 3, 121994793: 121994796
12 CASR NM_000388.3(CASR): c.1512_1515delGTTT (p.Phe505Argfs) deletion Likely pathogenic rs193922422 GRCh38 Chromosome 3, 122275946: 122275949
13 CASR NM_000388.3(CASR): c.1525G> A (p.Gly509Arg) single nucleotide variant Pathogenic rs193922423 GRCh37 Chromosome 3, 121994806: 121994806
14 CASR NM_000388.3(CASR): c.1525G> A (p.Gly509Arg) single nucleotide variant Pathogenic rs193922423 GRCh38 Chromosome 3, 122275959: 122275959
15 CASR NM_000388.3(CASR): c.166delG (p.Glu56Serfs) deletion Likely pathogenic rs193922424 GRCh37 Chromosome 3, 121973202: 121973202
16 CASR NM_000388.3(CASR): c.166delG (p.Glu56Serfs) deletion Likely pathogenic rs193922424 GRCh38 Chromosome 3, 122254355: 122254355
17 CASR NM_000388.3(CASR): c.1676C> A (p.Pro559His) single nucleotide variant Likely pathogenic rs193922425 GRCh37 Chromosome 3, 122001027: 122001027
18 CASR NM_000388.3(CASR): c.1676C> A (p.Pro559His) single nucleotide variant Likely pathogenic rs193922425 GRCh38 Chromosome 3, 122282180: 122282180
19 CASR NM_000388.3(CASR): c.1685G> C (p.Cys562Ser) single nucleotide variant Likely pathogenic rs193922426 GRCh37 Chromosome 3, 122001036: 122001036
20 CASR NM_000388.3(CASR): c.1685G> C (p.Cys562Ser) single nucleotide variant Likely pathogenic rs193922426 GRCh38 Chromosome 3, 122282189: 122282189
21 CASR NM_000388.3(CASR): c.1685_1686delGCinsCT (p.Cys562Ser) indel Likely pathogenic rs193922427 GRCh37 Chromosome 3, 122001036: 122001037
22 CASR NM_000388.3(CASR): c.1685_1686delGCinsCT (p.Cys562Ser) indel Likely pathogenic rs193922427 GRCh38 Chromosome 3, 122282189: 122282190
23 CASR NM_000388.3(CASR): c.1686C> T (p.Cys562=) single nucleotide variant Likely benign rs193922428 GRCh37 Chromosome 3, 122001037: 122001037
24 CASR NM_000388.3(CASR): c.1686C> T (p.Cys562=) single nucleotide variant Likely benign rs193922428 GRCh38 Chromosome 3, 122282190: 122282190
25 CASR NM_000388.3(CASR): c.1884delC (p.Phe629Leufs) deletion Likely pathogenic rs193922429 GRCh37 Chromosome 3, 122002685: 122002685
26 CASR NM_000388.3(CASR): c.1884delC (p.Phe629Leufs) deletion Likely pathogenic rs193922429 GRCh38 Chromosome 3, 122283838: 122283838
27 CASR NM_000388.3(CASR): c.2014C> A (p.Pro672Thr) single nucleotide variant Likely pathogenic rs193922431 GRCh37 Chromosome 3, 122002815: 122002815
28 CASR NM_000388.3(CASR): c.2014C> A (p.Pro672Thr) single nucleotide variant Likely pathogenic rs193922431 GRCh38 Chromosome 3, 122283968: 122283968
29 CASR NM_000388.3(CASR): c.206G> A (p.Arg69His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922432 GRCh37 Chromosome 3, 121975948: 121975948
30 CASR NM_000388.3(CASR): c.206G> A (p.Arg69His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922432 GRCh38 Chromosome 3, 122257101: 122257101
31 CASR NM_000388.3(CASR): c.2243C> A (p.Pro748His) single nucleotide variant Likely pathogenic rs193922433 GRCh38 Chromosome 3, 122284197: 122284197
32 CASR NM_000388.3(CASR): c.2243C> A (p.Pro748His) single nucleotide variant Likely pathogenic rs193922433 GRCh37 Chromosome 3, 122003044: 122003044
33 CASR NM_000388.3(CASR): c.2254C> T (p.Arg752Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922434 GRCh37 Chromosome 3, 122003055: 122003055
34 CASR NM_000388.3(CASR): c.2254C> T (p.Arg752Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922434 GRCh38 Chromosome 3, 122284208: 122284208
35 CASR NM_000388.3(CASR): c.2435T> C (p.Leu812Pro) single nucleotide variant Likely pathogenic rs193922435 GRCh37 Chromosome 3, 122003236: 122003236
36 CASR NM_000388.3(CASR): c.2435T> C (p.Leu812Pro) single nucleotide variant Likely pathogenic rs193922435 GRCh38 Chromosome 3, 122284389: 122284389
37 CASR NM_000388.3(CASR): c.2489G> A (p.Gly830Asp) single nucleotide variant Likely pathogenic rs193922436 GRCh37 Chromosome 3, 122003290: 122003290
38 CASR NM_000388.3(CASR): c.2489G> A (p.Gly830Asp) single nucleotide variant Likely pathogenic rs193922436 GRCh38 Chromosome 3, 122284443: 122284443
39 CASR NM_000388.3(CASR): c.2644A> T (p.Lys882Ter) single nucleotide variant Likely pathogenic rs193922437 GRCh37 Chromosome 3, 122003445: 122003445
40 CASR NM_000388.3(CASR): c.2644A> T (p.Lys882Ter) single nucleotide variant Likely pathogenic rs193922437 GRCh38 Chromosome 3, 122284598: 122284598
41 CASR NM_000388.3(CASR): c.269A> C (p.Asn90Thr) single nucleotide variant Likely pathogenic rs193922439 GRCh37 Chromosome 3, 121976011: 121976011
42 CASR NM_000388.3(CASR): c.269A> C (p.Asn90Thr) single nucleotide variant Likely pathogenic rs193922439 GRCh38 Chromosome 3, 122257164: 122257164
43 CASR NM_000388.3(CASR): c.3063G> A (p.Thr1021=) single nucleotide variant Likely benign rs193922440 GRCh37 Chromosome 3, 122003864: 122003864
44 CASR NM_000388.3(CASR): c.3063G> A (p.Thr1021=) single nucleotide variant Likely benign rs193922440 GRCh38 Chromosome 3, 122285017: 122285017
45 CASR NM_000388.3(CASR): c.3091G> A (p.Gly1031Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142704083 GRCh37 Chromosome 3, 122003892: 122003892
46 CASR NM_000388.3(CASR): c.3091G> A (p.Gly1031Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142704083 GRCh38 Chromosome 3, 122285045: 122285045
47 CASR NM_000388.3(CASR): c.380A> G (p.Glu127Gly) single nucleotide variant Likely pathogenic rs121909260 GRCh37 Chromosome 3, 121976122: 121976122
48 CASR NM_000388.3(CASR): c.380A> G (p.Glu127Gly) single nucleotide variant Likely pathogenic rs121909260 GRCh38 Chromosome 3, 122257275: 122257275
49 CASR NM_000388.3(CASR): c.492+19G> A single nucleotide variant Benign rs9869985 GRCh37 Chromosome 3, 121976253: 121976253
50 CASR NM_000388.3(CASR): c.492+19G> A single nucleotide variant Benign rs9869985 GRCh38 Chromosome 3, 122257406: 122257406

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 KEGG:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Endocrine and other factor-regulated calcium reabsorption hsa04961

GO Terms for Familial Hypocalciuric Hypercalcemia

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.77 ARHGAP4 CASR GNA11 SRGAP1 SRGAP2
2 positive regulation of GTPase activity GO:0043547 9.5 ARHGAP4 SRGAP1 SRGAP2
3 Rho protein signal transduction GO:0007266 9.4 ARHGAP4 PTH
4 regulation of small GTPase mediated signal transduction GO:0051056 9.33 ARHGAP4 SRGAP1 SRGAP2
5 positive regulation of signal transduction GO:0009967 9.26 ARHGAP4 PTH
6 negative regulation of cell migration GO:0030336 9.13 ARHGAP4 SRGAP1 SRGAP2
7 response to fibroblast growth factor GO:0071774 8.62 CASR PTH

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.13 ARHGAP4 SRGAP1 SRGAP2
2 Rac GTPase binding GO:0048365 8.8 ARHGAP4 SRGAP1 SRGAP2

Sources for Familial Hypocalciuric Hypercalcemia

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