FBH
MCID: FML068
MIFTS: 54

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 52 58 36 29 6 15
Familial Benign Hypercalcemia 12 52 58 71
Fbhh 12 52 58
Fhh 12 52 58
Fbh 12 52 58
Familial Benign Hypocalciuric Hypercalcemia 12 58
Hypocalciuric Hypercalcemia, Familial, Type 1 71

Characteristics:

Orphanet epidemiological data:

58
familial hypocalciuric hypercalcemia
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060699
KEGG 36 H02026
ICD10 32 E83.5
ICD10 via Orphanet 33 E83.5
UMLS via Orphanet 72 C1809471
Orphanet 58 ORPHA405
UMLS 71 C0342637 C1809471

Summaries for Familial Hypocalciuric Hypercalcemia

NIH Rare Diseases : 52 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 iii and hypocalciuric hypercalcemia, familial, type ii. 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. Affiliated tissues include testes, pancreas and bone, 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.

KEGG : 36 Familial hypocalciuric hypercalcemia (HHC), an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion. HHC is a genetically heterogeneous disorder with three variants. HHC1 is due to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing receptor endocytosis.

Wikipedia : 74 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 top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type iii 33.6 PTH GNA11 CDC73 CASR AP2S1 ADH4
2 hypocalciuric hypercalcemia, familial, type ii 33.6 PTH GNA11 CDC73 CASR AP2S1 ADH4
3 hyperparathyroidism, neonatal severe 33.4 CXADR CASR
4 hypocalciuric hypercalcemia, familial, type i 33.4 SPON1 PTH GNA11 CDC73 CASR AP2S1
5 hypercalcemia, infantile, 1 31.2 PTHLH PTH CASR
6 chondrocalcinosis 31.0 GNA11 CASR AP2S1
7 hyperparathyroidism 1 30.8 MEN1 GCM2 CDC73
8 secondary hyperparathyroidism 30.4 SPG7 PTH MEN1 CXADR CASR
9 hyperparathyroidism 30.4 RET PTHLH PTH MEN1 GCM2 CDC73
10 adenoma 30.3 RET PTH MEN1 CDC73 CASR
11 bone resorption disease 30.2 PTHLH PTH CASR
12 hyperparathyroidism 2 with jaw tumors 30.2 RET MEN1 CDC73 CASR
13 multiple endocrine neoplasia, type iv 30.2 RET MEN1 CDC73 AP2S1
14 osteomalacia 30.2 PTHLH PTH CASR
15 primary hyperparathyroidism 30.0 RET PTHLH PTH MEN1 GCM2 CXADR
16 multiple endocrine neoplasia, type i 29.9 RET PTH MEN1 CDC73 CASR
17 parathyroid adenoma 29.3 RET PTHLH PTH MEN1 GCM2 CXADR
18 hypoparathyroidism 29.2 SPG7 RET PTHLH PTH GNA11 GCM2
19 hypocalcemia, autosomal dominant 1 29.0 PTHLH PTH GNA11 GCM2 CXADR CASR
20 parathyroid gland disease 28.7 RET PTHLH PTH MEN1 GCM2 CDC73
21 hypophosphatemia 10.5
22 multiple endocrine neoplasia 10.5
23 rickets 10.4
24 water-clear cell adenoma 10.4 PTH AP2S1
25 clear cell adenoma 10.4 PTH CDC73
26 parathyroid transitional clear cell adenoma 10.4 PTH MEN1
27 hypoparathyroidism, familial isolated, 1 10.3 PTH GCM2
28 osteitis fibrosa 10.3 PTH CDC73 CASR
29 hypoparathyroidism, sensorineural deafness, and renal disease 10.3 PTH GCM2 CASR
30 familial isolated hypoparathyroidism 10.3 PTH GCM2 CASR
31 hyperphosphatemia 10.2 PTH GCM2 CASR
32 hypercalciuria, absorptive, 2 10.2
33 hyperparathyroidism, primary, caused by water clear cell hyperplasia 10.2
34 constipation 10.2
35 nephrolithiasis 10.2
36 hypotonia 10.2
37 postsurgical hypothyroidism 10.2 RET PTH
38 skin lipoma 10.2 RET MEN1
39 tall cell variant papillary carcinoma 10.2 RET PTH
40 calciphylaxis 10.2 PTH CASR
41 uremia 10.2 PTH MEN1 CASR
42 retinoblastoma 10.1
43 chondrosarcoma 10.1
44 helix syndrome 10.1
45 familial retinoblastoma 10.1
46 pediatric ovarian germ cell tumor 10.1 PTHLH PTH
47 ataxia and polyneuropathy, adult-onset 10.1
48 malignant ovarian brenner tumor 10.1 PTHLH PTH
49 pediatric ovarian dysgerminoma 10.1 PTHLH PTH
50 autoimmune disease 10.1

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypocalciuria 58 31 obligate (100%) Obligate (100%) HP:0003127
2 reduced ratio of renal calcium clearance to creatinine clearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0003513
3 parathormone-independent increased renal tubular calcium reabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0003529
4 osteomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002749
5 infantile hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0008250
6 renal hypophosphatemia 58 31 frequent (33%) Frequent (79-30%) HP:0008732
7 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
8 chondrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000934
9 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
10 peptic ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0004398
11 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
12 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002574
13 hypermagnesemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002918
14 hypomagnesiuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012609
15 autoimmunity 58 31 very rare (1%) Very rare (<4-1%) HP:0002960
16 nephrolithiasis 58 31 very rare (1%) Very rare (<4-1%) HP:0000787
17 lipoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012032
18 pancreatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001733
19 hypocalcemic seizures 58 31 very rare (1%) Very rare (<4-1%) HP:0002199
20 nephrocalcinosis 58 Excluded (0%)
21 hypercalcemia 58 Obligate (100%)

GenomeRNAi Phenotypes related to Familial Hypocalciuric Hypercalcemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.47 MEN1
2 Decreased viability GR00221-A-1 9.47 RET
3 Decreased viability GR00221-A-2 9.47 RET
4 Decreased viability GR00221-A-4 9.47 RET
5 Decreased viability GR00240-S-1 9.47 SPON1
6 Decreased viability GR00249-S 9.47 AP2S1 SPG7
7 Decreased viability GR00301-A 9.47 RET
8 Decreased viability GR00381-A-1 9.47 ADH4
9 Decreased viability GR00386-A-1 9.47 ADH1A AP2S1
10 Decreased viability GR00402-S-2 9.47 CXADR OR1D5 RET

MGI Mouse Phenotypes related to Familial Hypocalciuric Hypercalcemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.5 AP2S1 CASR CDC73 CXADR MEN1 PTHLH
2 endocrine/exocrine gland MP:0005379 9.32 AP2S1 CASR CDC73 CXADR GCM2 GNA11

Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Linkage Study in Familial Pulmonary Fibrosis Completed NCT00016627
2 Family Studies in Metabolic Diseases and Mineral 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:

40
Testes, Pancreas, Bone, Kidney, Thyroid, Breast

Publications for Familial Hypocalciuric Hypercalcemia

Articles related to Familial Hypocalciuric Hypercalcemia:

(show top 50) (show all 365)
# Title Authors PMID Year
1
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 6 61
23802516 2013
2
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. 6 61
23222959 2013
3
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. 61 6
20133464 2010
4
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. 6 61
17698911 2007
5
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. 61 6
17473068 2007
6
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. 61 6
15879434 2005
7
Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. 61 6
15579740 2004
8
Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism. 6 61
15292296 2004
9
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 6 61
11668634 2001
10
A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria. 61 6
11231970 2001
11
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 61 6
9109436 1997
12
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. 6 61
7673400 1995
13
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. 6 61
7726161 1995
14
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 61 6
7717399 1995
15
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 6 61
7916660 1993
16
Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families. 6 61
1517376 1992
17
Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. 61 6
1524075 1992
18
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. 61 6
3966479 1985
19
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. 6 61
6543841 1984
20
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. 6 61
7054696 1982
21
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. 6
25292184 2014
22
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. 6
22422767 2012
23
Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager. 6
19423559 2009
24
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene. 6
16642557 2006
25
Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor. 6
16598859 2006
26
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. 6
11807402 2002
27
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. 6
10843194 2000
28
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. 6
10468915 1999
29
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. 6
9011580 1997
30
Calcium-ion-sensing cell-surface receptors. 6
7791841 1995
31
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. 6
7874174 1994
32
Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. 6
2211966 1990
33
Hereditary parathyroid hyperplasia: a surgical emergency of early infancy. 6
5013415 1972
34
NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM. 6
14089114 1964
35
Primary diffuse parathyroid hyperplasia in an infant of 4 months. 6
18887540 1948
36
Hypercalcemia and idiopathic hyperplasia of the parathyroid glands in an infant. 6
20290361 1947
37
Familial hypocalciuric hypercalcaemia: a review. 52
21986511 2011
38
Autoimmune Hypercalcemia Due to Autoantibodies Against the Calcium-sensing Receptor. 61
32311038 2020
39
A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery. 61
32306059 2020
40
Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls. 61
32537548 2020
41
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. 61
32386559 2020
42
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1). 61
32150253 2020
43
Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor Gene Causes Familial Hypocalciuric Hypercalcemia 1 (FHH1). 61
32160303 2020
44
Control of PTH secretion by the TRPC1 ion channel. 61
32213715 2020
45
Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His. 61
32047691 2020
46
Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR. 61
31641801 2020
47
Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals. 61
31433865 2019
48
Cinacalcet sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation. 61
31391146 2019
49
Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female. 61
31607113 2019
50
A NOVEL MUTATION IN CALCIUM-SENSING RECEPTOR PRESENTING AS FAMILIAL HYPOCALCIURIC HYPERCALCEMIA IN A YOUNG MAN. 61
31967040 2019

Variations for Familial Hypocalciuric Hypercalcemia

ClinVar genetic disease variations for Familial Hypocalciuric Hypercalcemia:

6 (show top 50) (show all 475) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASR NM_000388.4(CASR):c.658C>T (p.Arg220Trp)SNV Pathogenic 431804 rs1482119762 3:121980540-121980540 3:122261693-122261693
2 CASR NM_000388.4(CASR):c.679C>T (p.Arg227Ter)SNV Pathogenic 532618 rs1085307984 3:121980561-121980561 3:122261714-122261714
3 CASR NM_000388.4(CASR):c.446_447TC[3] (p.Thr151fs)short repeat Pathogenic 664654 3:121976187-121976188 3:122257340-122257341
4 CASR NM_000388.4(CASR):c.166G>T (p.Glu56Ter)SNV Pathogenic 838073 3:121973202-121973202 3:122254355-122254355
5 CASR insertion Pathogenic 870267
6 CASR NM_000388.4(CASR):c.554G>A (p.Arg185Gln)SNV Pathogenic 8314 rs104893689 3:121980436-121980436 3:122261589-122261589
7 CASR NM_000388.4(CASR):c.380A>C (p.Glu127Ala)SNV Pathogenic 8315 rs121909260 3:121976122-121976122 3:122257275-122257275
8 CASR NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)SNV Pathogenic 8318 rs104893690 3:122002546-122002546 3:122283699-122283699
9 CASR NM_000388.4(CASR):c.680G>A (p.Arg227Gln)SNV Pathogenic 8331 rs28936684 3:121980562-121980562 3:122261715-122261715
10 CASR NM_000388.4(CASR):c.553C>T (p.Arg185Ter)SNV Pathogenic 8345 rs104893707 3:121980435-121980435 3:122261588-122261588
11 CASR NM_000388.4(CASR):c.164C>T (p.Pro55Leu)SNV Pathogenic 279731 rs886041154 3:121973200-121973200 3:122254353-122254353
12 CASR NM_000388.4(CASR):c.2657G>C (p.Arg886Pro)SNV Pathogenic 379932 rs1057520791 3:122003458-122003458 3:122284611-122284611
13 CASR NM_000388.4(CASR):c.514A>G (p.Arg172Gly)SNV Pathogenic 379844 rs201851934 3:121980396-121980396 3:122261549-122261549
14 CASR NM_000388.4(CASR):c.73C>T (p.Arg25Ter)SNV Pathogenic/Likely pathogenic 372315 rs201633414 3:121973109-121973109 3:122254262-122254262
15 CASR NM_000388.4(CASR):c.1525G>A (p.Gly509Arg)SNV Pathogenic/Likely pathogenic 35778 rs193922423 3:121994806-121994806 3:122275959-122275959
16 CASR NM_000388.4(CASR):c.428G>A (p.Gly143Glu)SNV Pathogenic/Likely pathogenic 8333 rs121909264 3:121976170-121976170 3:122257323-122257323
17 CASR NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)SNV Pathogenic/Likely pathogenic 8312 rs121909258 3:122003184-122003184 3:122284337-122284337
18 CASR NM_000388.4(CASR):c.1609-2A>GSNV Likely pathogenic 854168 3:122000958-122000958 3:122282111-122282111
19 CASR NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)SNV Likely pathogenic 8340 rs104893704 3:122003442-122003442 3:122284595-122284595
20 CASR NC_000003.12:g.(?_122282103)_(122285191_?)deldeletion Likely pathogenic 832717 3:122000950-122004038
21 CASR NM_000388.4(CASR):c.166del (p.Glu56fs)deletion Likely pathogenic 35779 rs193922424 3:121973201-121973201 3:122254354-122254354
22 CASR NM_000388.4(CASR):c.1676C>A (p.Pro559His)SNV Likely pathogenic 35780 rs193922425 3:122001027-122001027 3:122282180-122282180
23 CASR NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)SNV Likely pathogenic 35781 rs193922426 3:122001036-122001036 3:122282189-122282189
24 CASR NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)indel Likely pathogenic 35782 rs193922427 3:122001036-122001037 3:122282189-122282190
25 CASR NM_000388.4(CASR):c.1884del (p.Phe629fs)deletion Likely pathogenic 35784 rs193922429 3:122002684-122002684 3:122283837-122283837
26 CASR NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)SNV Likely pathogenic 35786 rs193922431 3:122002815-122002815 3:122283968-122283968
27 CASR NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)SNV Likely pathogenic 35773 rs193922419 3:121980940-121980940 3:122262093-122262093
28 CASR NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)SNV Likely pathogenic 35775 rs193922421 3:121981126-121981126 3:122262279-122262279
29 CASR NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)deletion Likely pathogenic 35777 rs193922422 3:121994792-121994795 3:122275945-122275948
30 CASR NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)SNV Likely pathogenic 853442 3:122002545-122002545 3:122283698-122283698
31 CASR NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)SNV Likely pathogenic 35791 rs193922435 3:122003236-122003236 3:122284389-122284389
32 CASR NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)SNV Likely pathogenic 35792 rs193922436 3:122003290-122003290 3:122284443-122284443
33 CASR NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)SNV Likely pathogenic 35793 rs193922437 3:122003445-122003445 3:122284598-122284598
34 CASR NM_000388.4(CASR):c.269A>C (p.Asn90Thr)SNV Likely pathogenic 35795 rs193922439 3:121976011-121976011 3:122257164-122257164
35 CASR NM_000388.4(CASR):c.554del (p.Arg185fs)deletion Likely pathogenic 35801 rs193922442 3:121980436-121980436 3:122261589-122261589
36 CASR NM_000388.4(CASR):c.643G>C (p.Asp215His)SNV Likely pathogenic 35802 rs1553731681 3:121980525-121980525 3:122261678-122261678
37 CASR NM_000388.4(CASR):c.974G>A (p.Gly325Glu)SNV Likely pathogenic 35803 rs193922444 3:121980856-121980856 3:122262009-122262009
38 CASR NM_000388.4(CASR):c.380A>G (p.Glu127Gly)SNV Likely pathogenic 35798 rs121909260 3:121976122-121976122 3:122257275-122257275
39 CASR NM_000388.4(CASR):c.2039G>A (p.Arg680His)SNV Likely pathogenic 237763 rs773146939 3:122002840-122002840 3:122283993-122283993
40 CASR NM_000388.4(CASR):c.197G>A (p.Arg66His)SNV Likely pathogenic 650821 3:121975939-121975939 3:122257092-122257092
41 CASR NM_000388.4(CASR):c.493-2A>GSNV Likely pathogenic 652806 3:121980373-121980373 3:122261526-122261526
42 CASR NM_000388.4(CASR):c.659G>A (p.Arg220Gln)SNV Likely pathogenic 448997 rs1202110240 3:121980541-121980541 3:122261694-122261694
43 CASR NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)SNV Likely pathogenic 410346 rs1060502856 3:122003194-122003194 3:122284347-122284347
44 CASR NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)SNV Likely pathogenic 410358 rs1060502861 3:122001003-122001003 3:122282156-122282156
45 CASR NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)SNV Conflicting interpretations of pathogenicity 410348 rs751217000 3:121994674-121994674 3:122275827-122275827
46 CASR NM_000388.4(CASR):c.848T>C (p.Ile283Thr)SNV Conflicting interpretations of pathogenicity 410355 rs142745096 3:121980730-121980730 3:122261883-122261883
47 CASR NM_000388.4(CASR):c.939G>A (p.Val313=)SNV Conflicting interpretations of pathogenicity 463960 rs750302987 3:121980821-121980821 3:122261974-122261974
48 CASR NM_000388.4(CASR):c.1287C>T (p.His429=)SNV Conflicting interpretations of pathogenicity 463896 rs746515147 3:121981169-121981169 3:122262322-122262322
49 CASR NM_000388.4(CASR):c.2255G>A (p.Arg752His)SNV Conflicting interpretations of pathogenicity 532595 rs771529256 3:122003056-122003056 3:122284209-122284209
50 CASR NM_000388.4(CASR):c.1110G>A (p.Val370=)SNV Conflicting interpretations of pathogenicity 532610 rs150412204 3:121980992-121980992 3:122262145-122262145

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:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Endocrine and other factor-regulated calcium reabsorption hsa04961

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 TRIP10 RET PTHLH PTH OR1D5 NPSR1
2 11.05 PTHLH PTH GNA11 GCM2 CASR
3 10.92 PTHLH PTH GNA11

GO Terms for Familial Hypocalciuric Hypercalcemia

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 9.97 TRIP10 RET PTHLH OR1D5 NPSR1 GNA11
2 membrane organization GO:0061024 9.63 TRIP10 FNBP1 AP2S1
3 cellular calcium ion homeostasis GO:0006874 9.5 PTH GCM2 CASR
4 negative regulation of chondrocyte differentiation GO:0032331 9.43 PTHLH PTH
5 osteoblast development GO:0002076 9.4 PTHLH MEN1
6 ethanol oxidation GO:0006069 9.26 ADH4 ADH1A
7 response to fibroblast growth factor GO:0071774 9.16 PTH CASR
8 alcohol metabolic process GO:0006066 8.96 ADH4 ADH1A
9 cAMP metabolic process GO:0046058 8.62 PTHLH PTH

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 TRIP10 SPON1 SPG7 RET PTHLH PTH
2 retinol dehydrogenase activity GO:0004745 9.32 ADH4 ADH1A
3 peptide hormone receptor binding GO:0051428 9.16 PTHLH PTH
4 alcohol dehydrogenase (NAD) activity GO:0004022 8.96 ADH4 ADH1A
5 alcohol dehydrogenase activity, zinc-dependent GO:0004024 8.62 ADH4 ADH1A

Sources for Familial Hypocalciuric Hypercalcemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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