MCID: FML068
MIFTS: 48

Familial Hypocalciuric Hypercalcemia

Categories: Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Genetic 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
Fbh 12 53 59
Fhh 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 condition that causes abnormally high levels of calcium in the blood (hypercalcemia). People with FHH usually do not have any signs or symptoms of the condition, and hypercalcemia is often diagnosed incidentally. Weakness, fatigue, thought disturbance, and/or excessive thirst (polydipsia) are among reported symptoms. Rarely, people with this disease can experience inflammation of the pancreas (pancreatitis). FHH can be classified into three different types depending on the the gene involved. FHH type 1 is the mostly common type of FHH and is caused by mutations in the CASR gene. FHH type 2 is caused by mutations in the GNA11 gene and FHH type 3 is caused by mutations in the AP2S1 gene. FHH can also be caused by proteins in the immune system called autoantibodies attacking the calcium-sensing receptor (CaSR). All three types of FHH are inherited in an autosomal dominant manner. Treatment is typically considered unnecessary because most people with FHH do not have symptoms; however, 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 Arginine Vasopressin have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone and liver, and related phenotypes are hypocalciuria and reduced ratio of renal calcium clearance to creatinine clearance

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 43)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type i 33.8 AP2S1 CASR GNA11
2 hypocalciuric hypercalcemia, familial, type iii 33.1 AP2S1 CASR GNA11 PTH
3 hypocalciuric hypercalcemia, familial, type ii 33.0 AP2S1 CASR GNA11 PTH
4 hyperparathyroidism 30.9 CASR CDC73 PTH
5 hypocalcemia, autosomal dominant 1 30.8 CASR GNA11
6 primary hyperparathyroidism 30.8 CASR CDC73 PTH
7 secondary hyperparathyroidism of renal origin 30.5 CASR PTH
8 chondrocalcinosis 30.2 AP2S1 CASR GNA11
9 hypoparathyroidism 30.0 CASR PTH SPG7
10 parathyroid adenoma 29.7 CASR CDC73 PTH
11 hyperparathyroidism, neonatal severe 11.6
12 hypoparathyroidism, familial isolated 10.5 CASR PTH
13 calciphylaxis 10.5 CASR PTH
14 hypercalcemia, infantile, 1 10.5 CASR PTH
15 osteitis fibrosa 10.4 CASR PTH
16 phosphorus metabolism disease 10.4 CASR PTH
17 pseudopseudohypoparathyroidism 10.4 GNA11 PTH
18 hyperparathyroidism 2 with jaw tumors 10.4 CASR CDC73
19 renal osteodystrophy 10.4 CASR PTH
20 mineral metabolism disease 10.3 CASR PTH
21 hyperphosphatemia 10.1 CASR PTH
22 endocrine organ benign neoplasm 10.1 CDC73 PTH
23 multiple endocrine neoplasia 10.1
24 multiple endocrine neoplasia, type iia 10.0 CDC73 PTH
25 parathyroid gland disease 9.9 CASR CDC73 PTH
26 breast cancer 9.9
27 kabuki syndrome 1 9.9
28 alkaptonuria 9.9
29 hyperparathyroidism, primary, caused by water clear cell hyperplasia 9.9
30 insulinoma 9.9
31 rickets 9.9
32 neuroendocrine tumor 9.9
33 hyperostosis 9.9
34 adenoma 9.9
35 diffuse idiopathic skeletal hyperostosis 9.9
36 metastatic insulinoma 9.9
37 parathyroid carcinoma 9.9 CASR CDC73 PTH
38 organ system benign neoplasm 9.9 CDC73 PTH
39 multiple endocrine neoplasia, type i 9.9 CASR CDC73 PTH
40 impaired renal function disease 9.8 ARHGAP4 PTH
41 diabetes insipidus, nephrogenic, autosomal 9.7 ARHGAP4 CASR
42 uremia 9.7 CASR PTH
43 cell type benign neoplasm 9.7 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 hypocalciuria 59 32 obligate (100%) Obligate (100%) HP:0003127
2 reduced ratio of renal calcium clearance to creatinine clearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0003513
3 parathormone-independent increased renal tubular calcium reabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0003529
4 osteomalacia 59 32 frequent (33%) Frequent (79-30%) HP:0002749
5 infantile hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0008250
6 renal hypophosphatemia 59 32 frequent (33%) Frequent (79-30%) HP:0008732
7 chondrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000934
8 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
9 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
10 episodic abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002574
11 hypermagnesemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002918
12 peptic ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0004398
13 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
14 hypomagnesiuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0012609
15 nephrolithiasis 59 32 very rare (1%) Very rare (<4-1%) HP:0000787
16 pancreatitis 59 32 very rare (1%) Very rare (<4-1%) HP:0001733
17 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
18 autoimmunity 59 32 very rare (1%) Very rare (<4-1%) HP:0002960
19 lipoma 59 32 very rare (1%) Very rare (<4-1%) HP:0012032
20 hypercalcemia 59 Obligate (100%)
21 nephrocalcinosis 59 Excluded (0%)

Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Plasminogen Phase 2
2 Arginine Vasopressin
3 Calcium, Dietary
4 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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

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
Pancreas, Bone, Liver, Kidney

Publications for Familial Hypocalciuric Hypercalcemia

Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50) (show all 116)
# Title Authors Year
1
Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism. ( 29115694 )
2018
2
Calcimimetic Use in Familial Hypocalciuric Hypercalcemia - A Perspective in Endocrinology. ( 28945857 )
2017
3
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
4
AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. ( 27913609 )
2017
5
Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. ( 28176280 )
2017
6
Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient. ( 28690912 )
2017
7
Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene. ( 28620806 )
2017
8
Familial Hypocalciuric Hypercalcemia (FHH) ( 29083672 )
2017
9
Utility of Cinacalcet in Familial Hypocalciuric Hypercalcemia. ( 28459040 )
2017
10
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
11
G-Protein Subunit-I+11 Loss-of-Function Mutation, Thr54Met, Causing Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). ( 26729423 )
2016
12
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. ( 26963950 )
2016
13
A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism. ( 28222409 )
2016
14
Identification and functional characterization of a CaSR mutation in an infant with Familial Hypocalciuric Hypercalcemia. ( 27087013 )
2016
15
The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature. ( 27957351 )
2016
16
Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3. ( 27761240 )
2016
17
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation. ( 25993639 )
2015
18
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. ( 26386835 )
2015
19
Familial hypocalciuric hypercalcemia associated with crystal deposition disease. ( 25444087 )
2015
20
Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium. ( 25658165 )
2015
21
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor. ( 26019872 )
2015
22
Familial hypocalciuric hypercalcemia and calcium sensing receptor. ( 25163238 )
2014
23
Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. ( 24731014 )
2014
24
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. ( 24894639 )
2014
25
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. ( 23222959 )
2013
26
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. ( 23425644 )
2013
27
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female. ( 23531992 )
2013
28
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
29
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3. ( 24311792 )
2013
30
Familial hypocalciuric hypercalcemia: an atypical presentation. ( 22789152 )
2013
31
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia. ( 22620673 )
2012
32
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. ( 23077345 )
2012
33
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. ( 21643651 )
2012
34
A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia. ( 22315359 )
2012
35
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. ( 22232026 )
2012
36
Benign familial hypocalciuric hypercalcemia. ( 21478088 )
2011
37
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series. ( 22142470 )
2011
38
New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). ( 21468522 )
2011
39
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. ( 21785908 )
2011
40
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. ( 20495831 )
2010
41
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
42
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. ( 21175100 )
2010
43
A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. ( 21034470 )
2010
44
Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia. ( 20697181 )
2010
45
Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia. ( 19073830 )
2009
46
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
47
A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. ( 19423460 )
2009
48
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. ( 19467900 )
2009
49
Familial hypocalciuric hypercalcemia: review of three cases. ( 22964128 )
2008
50
Insulinoma cell calcium-sensing receptor influences insulin secretion in a case with concurrent familial hypocalciuric hypercalcemia and malignant metastatic insulinoma. ( 18430790 )
2008

Variations for Familial Hypocalciuric Hypercalcemia

ClinVar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

6
(show top 50) (show all 126)
# 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.1058A> C (p.Glu353Ala) single nucleotide variant Likely pathogenic rs193922419 GRCh38 Chromosome 3, 122262093: 122262093
3 CASR NM_000388.3(CASR): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs193922421 GRCh37 Chromosome 3, 121981126: 121981126
4 CASR NM_000388.3(CASR): c.1244G> A (p.Arg415Gln) single nucleotide variant Likely pathogenic rs193922421 GRCh38 Chromosome 3, 122262279: 122262279
5 CASR NM_000388.3(CASR): c.1512_1515delGTTT (p.Phe505Argfs) deletion Likely pathogenic rs193922422 GRCh37 Chromosome 3, 121994793: 121994796
6 CASR NM_000388.3(CASR): c.1512_1515delGTTT (p.Phe505Argfs) deletion Likely pathogenic rs193922422 GRCh38 Chromosome 3, 122275946: 122275949
7 CASR NM_000388.3(CASR): c.1525G> A (p.Gly509Arg) single nucleotide variant Pathogenic rs193922423 GRCh37 Chromosome 3, 121994806: 121994806
8 CASR NM_000388.3(CASR): c.1525G> A (p.Gly509Arg) single nucleotide variant Pathogenic rs193922423 GRCh38 Chromosome 3, 122275959: 122275959
9 CASR NM_000388.3(CASR): c.166delG (p.Glu56Serfs) deletion Likely pathogenic rs193922424 GRCh37 Chromosome 3, 121973202: 121973202
10 CASR NM_000388.3(CASR): c.166delG (p.Glu56Serfs) deletion Likely pathogenic rs193922424 GRCh38 Chromosome 3, 122254355: 122254355
11 CASR NM_000388.3(CASR): c.1676C> A (p.Pro559His) single nucleotide variant Likely pathogenic rs193922425 GRCh37 Chromosome 3, 122001027: 122001027
12 CASR NM_000388.3(CASR): c.1676C> A (p.Pro559His) single nucleotide variant Likely pathogenic rs193922425 GRCh38 Chromosome 3, 122282180: 122282180
13 CASR NM_000388.3(CASR): c.1685G> C (p.Cys562Ser) single nucleotide variant Likely pathogenic rs193922426 GRCh37 Chromosome 3, 122001036: 122001036
14 CASR NM_000388.3(CASR): c.1685G> C (p.Cys562Ser) single nucleotide variant Likely pathogenic rs193922426 GRCh38 Chromosome 3, 122282189: 122282189
15 CASR NM_000388.3(CASR): c.1685_1686delGCinsCT (p.Cys562Ser) indel Likely pathogenic rs193922427 GRCh37 Chromosome 3, 122001036: 122001037
16 CASR NM_000388.3(CASR): c.1685_1686delGCinsCT (p.Cys562Ser) indel Likely pathogenic rs193922427 GRCh38 Chromosome 3, 122282189: 122282190
17 CASR NM_000388.3(CASR): c.1884delC (p.Phe629Leufs) deletion Likely pathogenic rs193922429 GRCh37 Chromosome 3, 122002685: 122002685
18 CASR NM_000388.3(CASR): c.1884delC (p.Phe629Leufs) deletion Likely pathogenic rs193922429 GRCh38 Chromosome 3, 122283838: 122283838
19 CASR NM_000388.3(CASR): c.2014C> A (p.Pro672Thr) single nucleotide variant Likely pathogenic rs193922431 GRCh37 Chromosome 3, 122002815: 122002815
20 CASR NM_000388.3(CASR): c.2014C> A (p.Pro672Thr) single nucleotide variant Likely pathogenic rs193922431 GRCh38 Chromosome 3, 122283968: 122283968
21 CASR NM_000388.3(CASR): c.2243C> A (p.Pro748His) single nucleotide variant Likely pathogenic rs193922433 GRCh38 Chromosome 3, 122284197: 122284197
22 CASR NM_000388.3(CASR): c.2243C> A (p.Pro748His) single nucleotide variant Likely pathogenic rs193922433 GRCh37 Chromosome 3, 122003044: 122003044
23 CASR NM_000388.3(CASR): c.2435T> C (p.Leu812Pro) single nucleotide variant Likely pathogenic rs193922435 GRCh37 Chromosome 3, 122003236: 122003236
24 CASR NM_000388.3(CASR): c.2435T> C (p.Leu812Pro) single nucleotide variant Likely pathogenic rs193922435 GRCh38 Chromosome 3, 122284389: 122284389
25 CASR NM_000388.3(CASR): c.2489G> A (p.Gly830Asp) single nucleotide variant Likely pathogenic rs193922436 GRCh37 Chromosome 3, 122003290: 122003290
26 CASR NM_000388.3(CASR): c.2489G> A (p.Gly830Asp) single nucleotide variant Likely pathogenic rs193922436 GRCh38 Chromosome 3, 122284443: 122284443
27 CASR NM_000388.3(CASR): c.2644A> T (p.Lys882Ter) single nucleotide variant Likely pathogenic rs193922437 GRCh37 Chromosome 3, 122003445: 122003445
28 CASR NM_000388.3(CASR): c.2644A> T (p.Lys882Ter) single nucleotide variant Likely pathogenic rs193922437 GRCh38 Chromosome 3, 122284598: 122284598
29 CASR NM_000388.3(CASR): c.269A> C (p.Asn90Thr) single nucleotide variant Likely pathogenic rs193922439 GRCh37 Chromosome 3, 121976011: 121976011
30 CASR NM_000388.3(CASR): c.269A> C (p.Asn90Thr) single nucleotide variant Likely pathogenic rs193922439 GRCh38 Chromosome 3, 122257164: 122257164
31 CASR NM_000388.3(CASR): c.380A> G (p.Glu127Gly) single nucleotide variant Likely pathogenic rs121909260 GRCh37 Chromosome 3, 121976122: 121976122
32 CASR NM_000388.3(CASR): c.380A> G (p.Glu127Gly) single nucleotide variant Likely pathogenic rs121909260 GRCh38 Chromosome 3, 122257275: 122257275
33 CASR NM_000388.3(CASR): c.554delG (p.Arg185Glnfs) deletion Likely pathogenic rs193922442 GRCh37 Chromosome 3, 121980436: 121980436
34 CASR NM_000388.3(CASR): c.554delG (p.Arg185Glnfs) deletion Likely pathogenic rs193922442 GRCh38 Chromosome 3, 122261589: 122261589
35 CASR NM_000388.3(CASR): c.643G> C (p.Asp215His) single nucleotide variant Likely pathogenic rs193922443 GRCh37 Chromosome 3, 121980525: 121980525
36 CASR NM_000388.3(CASR): c.643G> C (p.Asp215His) single nucleotide variant Likely pathogenic rs193922443 GRCh38 Chromosome 3, 122261678: 122261678
37 CASR NM_000388.3(CASR): c.974G> A (p.Gly325Glu) single nucleotide variant Likely pathogenic rs193922444 GRCh37 Chromosome 3, 121980856: 121980856
38 CASR NM_000388.3(CASR): c.974G> A (p.Gly325Glu) single nucleotide variant Likely pathogenic rs193922444 GRCh38 Chromosome 3, 122262009: 122262009
39 CASR NM_000388.3(CASR): c.78C> G (p.Ala26=) single nucleotide variant Benign rs77852524 GRCh37 Chromosome 3, 121973114: 121973114
40 CASR NM_000388.3(CASR): c.78C> G (p.Ala26=) single nucleotide variant Benign rs77852524 GRCh38 Chromosome 3, 122254267: 122254267
41 CASR NM_000388.3(CASR): c.748G> A (p.Glu250Lys) single nucleotide variant Benign/Likely benign rs62269092 GRCh37 Chromosome 3, 121980630: 121980630
42 CASR NM_000388.3(CASR): c.748G> A (p.Glu250Lys) single nucleotide variant Benign/Likely benign rs62269092 GRCh38 Chromosome 3, 122261783: 122261783
43 CASR NM_000388.3(CASR): c.2610G> A (p.Glu870=) single nucleotide variant Benign rs143738711 GRCh37 Chromosome 3, 122003411: 122003411
44 CASR NM_000388.3(CASR): c.2610G> A (p.Glu870=) single nucleotide variant Benign rs143738711 GRCh38 Chromosome 3, 122284564: 122284564
45 CASR NM_001178065.1(CASR): c.2998A> G (p.Arg1000Gly) single nucleotide variant Benign rs1042636 GRCh37 Chromosome 3, 122003769: 122003769
46 CASR NM_001178065.1(CASR): c.2998A> G (p.Arg1000Gly) single nucleotide variant Benign rs1042636 GRCh38 Chromosome 3, 122284922: 122284922
47 CASR NM_000388.3(CASR): c.573G> A (p.Glu191=) single nucleotide variant Benign/Likely benign rs141631116 GRCh37 Chromosome 3, 121980455: 121980455
48 CASR NM_000388.3(CASR): c.573G> A (p.Glu191=) single nucleotide variant Benign/Likely benign rs141631116 GRCh38 Chromosome 3, 122261608: 122261608
49 CASR NM_000388.3(CASR): c.762T> C (p.His254=) single nucleotide variant Likely benign rs76438850 GRCh37 Chromosome 3, 121980644: 121980644
50 CASR NM_000388.3(CASR): c.762T> C (p.His254=) single nucleotide variant Likely benign rs76438850 GRCh38 Chromosome 3, 122261797: 122261797

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 positive regulation of GTPase activity GO:0043547 9.5 ARHGAP4 SRGAP1 SRGAP2
2 regulation of small GTPase mediated signal transduction GO:0051056 9.33 ARHGAP4 SRGAP1 SRGAP2
3 positive regulation of signal transduction GO:0009967 9.26 ARHGAP4 PTH
4 negative regulation of cell migration GO:0030336 9.13 ARHGAP4 SRGAP1 SRGAP2
5 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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11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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