HHC1
MCID: HYP752
MIFTS: 48

Hypocalciuric Hypercalcemia, Familial, Type I (HHC1)

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

Aliases & Classifications for Hypocalciuric Hypercalcemia, Familial, Type I

MalaCards integrated aliases for Hypocalciuric Hypercalcemia, Familial, Type I:

Name: Hypocalciuric Hypercalcemia, Familial, Type I 57
Hypocalciuric Hypercalcemia, Familial, Type 1 20 29 6 70
Hhc1 57 12 20 72
Hypocalciuric Hypercalcemia, Type I 57 13 39
Familial Benign Hypercalcemia 1 57 12 72
Fhh Type 1 12 20 58
Fhh1 57 20 72
Fbh1 57 20 72
Familial Hypocalciuric Hypercalcemia Type 1 20 58
Familial Hypocalciuric Hypercalcemia 1 12 15
Hypocalciuric Hypercalcemia Type I 12 72
Hypercalcemia, Familial Benign 57 54
Hhc 57 72
Fhh 57 72
Familial Benign Hypocalciuric Hypercalcemia 1 72
Familial Hypocalciuric Hypercalcemia Type I 12
Hypocalciuric Hypercalcemia, Familial 1 72
Familial Benign Hypercalcemia 1; Fbh1 57
Hypercalcemia, Familial Benign Type 1 20
Familial Benign Hypercalcemia Type 1 20
Hhc; Fhh 57
Fbhh1 72

Characteristics:

Orphanet epidemiological data:

58
familial hypocalciuric hypercalcemia type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (United Kingdom); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
neonatal severe hyperparathyroidism in homozygotes


HPO:

31
hypocalciuric hypercalcemia, familial, type i:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0060700
OMIM® 57 145980
OMIM Phenotypic Series 57 PS145980
MeSH 44 D006934
ICD10 32 E83.5
MESH via Orphanet 45 C537145
ICD10 via Orphanet 33 E83.5
UMLS via Orphanet 71 C0342637 C1809471
Orphanet 58 ORPHA93372
UMLS 70 C0342637

Summaries for Hypocalciuric Hypercalcemia, Familial, Type I

OMIM® : 57 Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH; 168450) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010). Characteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH (Warner et al., 2004). (145980) (Updated 05-Apr-2021)

MalaCards based summary : Hypocalciuric Hypercalcemia, Familial, Type I, also known as hypocalciuric hypercalcemia, familial, type 1, is related to hypocalciuric hypercalcemia, familial, type iii and hyperparathyroidism. An important gene associated with Hypocalciuric Hypercalcemia, Familial, Type I is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Signaling by GPCR and Glucose metabolism. Affiliated tissues include kidney, and related phenotypes are hypercalciuria and nephrolithiasis

Disease Ontology : 12 A familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.

UniProtKB/Swiss-Prot : 72 Hypocalciuric hypercalcemia, familial 1: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.

Related Diseases for Hypocalciuric Hypercalcemia, Familial, Type I

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 Hypocalciuric Hypercalcemia, Familial, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type iii 30.4 PTH GNA11 CDC73 CASR AP2S1 ADH4
2 hyperparathyroidism 30.1 PTH CDC73 CASR
3 hyperparathyroidism 2 with jaw tumors 30.0 CDC73 CASR
4 multiple endocrine neoplasia, type iv 29.9 CDC73 AP2S1
5 primary hyperparathyroidism 29.9 PTH CDC73 CASR
6 secondary hyperparathyroidism 29.7 PTH CASR
7 hypocalciuric hypercalcemia, familial, type ii 29.7 PTH GNA11 CDC73 CASR AP2S1 ADH4
8 multiple endocrine neoplasia, type i 29.5 PTH CDC73 CASR
9 hypoparathyroidism 29.3 PTH GNA11 CASR AP2S1
10 familial hypocalciuric hypercalcemia 29.0 PTH GNA11 CDC73 CASR AP2S1 ADH4
11 hypocalcemia, autosomal dominant 1 27.8 PTH GNA11 CASR AP2S1 ADH4 ADH1B
12 hyperparathyroidism, neonatal severe 11.3
13 fanconi anemia, complementation group a 11.0
14 hemochromatosis, type 1 10.9
15 silver-russell syndrome 2 10.2
16 water-clear cell adenoma 10.1 PTH AP2S1
17 hypercalcemia, infantile, 1 10.0 PTH CASR
18 alcohol-related birth defect 10.0 ADH4 ADH1B
19 calciphylaxis 10.0 PTH CASR
20 hypoparathyroidism-retardation-dysmorphism syndrome 10.0 PTH CASR
21 metaphyseal chondrodysplasia, jansen type 10.0 PTH CASR
22 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 PTH CASR
23 chondrodysplasia, blomstrand type 10.0 PTH CASR
24 phosphorus metabolism disease 10.0 PTH CASR
25 hyperparathyroidism 1 10.0
26 proteinuria, chronic benign 10.0
27 renal tubular transport disease 10.0 PTH CASR
28 renal osteodystrophy 10.0 PTH CASR
29 pseudopseudohypoparathyroidism 10.0 PTH GNA11
30 chondrocalcinosis 10.0 GNA11 CASR AP2S1
31 pseudohypoparathyroidism, type ia 10.0 PTH GNA11
32 fetal alcohol spectrum disorder 10.0 ADH4 ADH1B
33 clear cell adenoma 10.0 PTH CDC73
34 hyperphosphatemia 10.0 PTH CASR
35 seizure disorder 10.0
36 osseous heteroplasia, progressive 10.0 PTH GNA11
37 osteomalacia 9.9 PTH CASR
38 diabetes insipidus, nephrogenic, autosomal 9.9 PTH CASR
39 helix syndrome 9.9
40 cerulean cataract 9.9
41 premature aging 9.9
42 bone benign neoplasm 9.9 PTH CDC73
43 ossifying fibroma 9.9 PTH CDC73
44 alcoholic liver cirrhosis 9.9 ADH4 ADH1B
45 connective tissue benign neoplasm 9.9 PTH CDC73
46 drug dependence 9.9 ADH4 ADH1B
47 ataxia and polyneuropathy, adult-onset 9.9
48 rickets 9.9
49 multiple endocrine neoplasia 9.9
50 47,xyy 9.9

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



Diseases related to Hypocalciuric Hypercalcemia, Familial, Type I

Symptoms & Phenotypes for Hypocalciuric Hypercalcemia, Familial, Type I

Human phenotypes related to Hypocalciuric Hypercalcemia, Familial, Type I:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypercalciuria 31 very rare (1%) HP:0002150
2 nephrolithiasis 31 HP:0000787
3 hyperparathyroidism 31 HP:0000843
4 hypercalcemia 31 HP:0003072
5 pancreatitis 31 HP:0001733
6 hypocalciuria 31 HP:0003127
7 parathyroid adenoma 31 HP:0002897
8 hypermagnesemia 31 HP:0002918

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypercalcemia
hypocalciuria
hypermagnesemia
hypercalciuria (in some patients)
urinary calcium-creatinine ratio < 0.01:1 supports diagnosis
more
Genitourinary Kidneys:
nephrolithiasis (uncommon)

Abdomen Pancreas:
pancreatitis (uncommon)

Endocrine Features:
parathyroid adenoma (uncommon)

Clinical features from OMIM®:

145980 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Familial, Type I

Search Clinical Trials , NIH Clinical Center for Hypocalciuric Hypercalcemia, Familial, Type I

Genetic Tests for Hypocalciuric Hypercalcemia, Familial, Type I

Genetic tests related to Hypocalciuric Hypercalcemia, Familial, Type I:

# Genetic test Affiliating Genes
1 Hypocalciuric Hypercalcemia, Familial, Type 1 29 CASR

Anatomical Context for Hypocalciuric Hypercalcemia, Familial, Type I

MalaCards organs/tissues related to Hypocalciuric Hypercalcemia, Familial, Type I:

40
Kidney

Publications for Hypocalciuric Hypercalcemia, Familial, Type I

Articles related to Hypocalciuric Hypercalcemia, Familial, Type I:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. 57 6 54
8675635 1995
2
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. 6 57
25292184 2014
3
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 6 57
20164288 2010
4
Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager. 57 6
19423559 2009
5
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene. 6 57
16642557 2006
6
Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. 6 57
15579740 2004
7
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. 57 6
11807402 2002
8
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 6 57
11668634 2001
9
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. 6 57
10843194 2000
10
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. 6 57
10468915 1999
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. 6 57
9109436 1997
12
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 57
9011580 1997
13
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. 6 57
7673400 1995
14
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. 6 57
7726161 1995
15
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 57 6
7916660 1993
16
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. 57 6
1302026 1992
17
Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. 6 57
2211966 1990
18
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. 6 57
3966479 1985
19
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. 57 6
6543841 1984
20
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. 57 6
7054696 1982
21
Hereditary parathyroid hyperplasia: a surgical emergency of early infancy. 57 6
5013415 1972
22
NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM. 57 6
14089114 1964
23
Primary diffuse parathyroid hyperplasia in an infant of 4 months. 57 6
18887540 1948
24
Hypercalcemia and idiopathic hyperplasia of the parathyroid glands in an infant. 6 57
20290361 1947
25
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. 57
32386559 2020
26
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults. 6
31672324 2019
27
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study. 6
30407919 2019
28
Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. 6
28176280 2017
29
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. 6
27666534 2016
30
Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases. 6
27390877 2016
31
Structural mechanism of ligand activation in human calcium-sensing receptor. 6
27434672 2016
32
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts. 6
26646938 2016
33
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. 6
26963950 2016
34
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. 6
25766501 2015
35
Towards tissue-specific pharmacology: insights from the calcium-sensing receptor as a paradigm for GPCR (patho)physiological bias. 6
25765207 2015
36
Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation. 6
25091521 2015
37
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 6
26161261 2015
38
Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy. 6
24763815 2014
39
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. 6
25104082 2014
40
Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia. 6
24947037 2014
41
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. 6
24203066 2014
42
Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143. 6
23966241 2013
43
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). 6
23764372 2013
44
Impact of clinically relevant mutations on the pharmacoregulation and signaling bias of the calcium-sensing receptor by positive and negative allosteric modulators. 6
23372019 2013
45
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. 6
23077345 2012
46
Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor. 6
22798347 2012
47
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
48
Active human retrotransposons: variation and disease. 6
22406018 2012
49
Identification of rare and frequent variants of the CASR gene by high-resolution melting. 6
22192860 2012
50
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series. 6
22142470 2011

Variations for Hypocalciuric Hypercalcemia, Familial, Type I

ClinVar genetic disease variations for Hypocalciuric Hypercalcemia, Familial, Type I:

6 (show top 50) (show all 920)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASR NM_000388.4(CASR):c.889G>A (p.Glu297Lys) SNV Pathogenic 8313 rs121909259 GRCh37: 3:121980771-121980771
GRCh38: 3:122261924-122261924
2 CASR CASR, ALU INS, CODON 877 Insertion Pathogenic 8316 GRCh37:
GRCh38:
3 CASR NM_000388.4(CASR):c.115C>G (p.Pro39Ala) SNV Pathogenic 8330 rs121909262 GRCh37: 3:121973151-121973151
GRCh38: 3:122254304-122254304
4 CASR NM_000388.4(CASR):c.413C>T (p.Thr138Met) SNV Pathogenic 8332 rs121909263 GRCh37: 3:121976155-121976155
GRCh38: 3:122257308-122257308
5 CASR NM_000388.4(CASR):c.185G>T (p.Arg62Met) SNV Pathogenic 8334 rs121909265 GRCh37: 3:121973221-121973221
GRCh38: 3:122254374-122254374
6 CASR NM_000388.4(CASR):c.38T>C (p.Leu13Pro) SNV Pathogenic 8353 rs104893717 GRCh37: 3:121973074-121973074
GRCh38: 3:122254227-122254227
7 CASR NM_000388.4(CASR):c.539T>G (p.Phe180Cys) SNV Pathogenic 8355 rs121909268 GRCh37: 3:121980421-121980421
GRCh38: 3:122261574-122261574
8 CASR NM_000388.4(CASR):c.1745G>T (p.Cys582Phe) SNV Pathogenic 8356 rs104893690 GRCh37: 3:122002546-122002546
GRCh38: 3:122283699-122283699
9 CASR NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) SNV Pathogenic 8357 rs104893719 GRCh37: 3:122001008-122001008
GRCh38: 3:122282161-122282161
10 CASR NM_000388.4(CASR):c.662C>A (p.Pro221Gln) SNV Pathogenic 60668 rs397514728 GRCh37: 3:121980544-121980544
GRCh38: 3:122261697-122261697
11 CASR NM_000388.4(CASR):c.733C>T (p.Gln245Ter) SNV Pathogenic 532576 rs1553766768 GRCh37: 3:121980615-121980615
GRCh38: 3:122261768-122261768
12 CASR NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs) Indel Pathogenic 574086 rs1559956508 GRCh37: 3:121975941-121975941
GRCh38: 3:122257094-122257094
13 CASR NM_000388.4(CASR):c.889G>A (p.Glu297Lys) SNV Pathogenic 8313 rs121909259 GRCh37: 3:121980771-121980771
GRCh38: 3:122261924-122261924
14 CASR NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del) Deletion Pathogenic 583082 rs1559956683 GRCh37: 3:121976135-121976149
GRCh38: 3:122257288-122257302
15 CASR NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) SNV Pathogenic 8312 rs121909258 GRCh37: 3:122003184-122003184
GRCh38: 3:122284337-122284337
16 CASR NM_000388.4(CASR):c.680G>A (p.Arg227Gln) SNV Pathogenic 8331 rs28936684 GRCh37: 3:121980562-121980562
GRCh38: 3:122261715-122261715
17 CASR NM_000388.4(CASR):c.428G>A (p.Gly143Glu) SNV Pathogenic 8333 rs121909264 GRCh37: 3:121976170-121976170
GRCh38: 3:122257323-122257323
18 CASR NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) SNV Pathogenic 8340 rs104893704 GRCh37: 3:122003442-122003442
GRCh38: 3:122284595-122284595
19 CASR NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) SNV Pathogenic 8341 rs104893705 GRCh37: 3:122002743-122002743
GRCh38: 3:122283896-122283896
20 CASR NM_000388.4(CASR):c.186-1G>T SNV Pathogenic 8342 rs797044441 GRCh37: 3:121975927-121975927
GRCh38: 3:122257080-122257080
21 CASR NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu) Indel Pathogenic 410326 rs1060502847 GRCh37: 3:121973200-121973201
GRCh38: 3:122254353-122254354
22 CASR NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) SNV Pathogenic 8318 rs104893690 GRCh37: 3:122002546-122002546
GRCh38: 3:122283699-122283699
23 CASR NM_000388.4(CASR):c.680G>A (p.Arg227Gln) SNV Pathogenic 8331 rs28936684 GRCh37: 3:121980562-121980562
GRCh38: 3:122261715-122261715
24 CASR NM_000388.4(CASR):c.1972del (p.Leu658fs) Deletion Pathogenic 463917 rs1553768972 GRCh37: 3:122002771-122002771
GRCh38: 3:122283924-122283924
25 CASR NM_000388.4(CASR):c.446_447TC[3] (p.Thr151fs) Microsatellite Pathogenic 664654 rs1576854561 GRCh37: 3:121976187-121976188
GRCh38: 3:122257340-122257341
26 CASR NM_000388.4(CASR):c.1670G>A (p.Gly557Glu) SNV Pathogenic 830037 rs1576875835 GRCh37: 3:122001021-122001021
GRCh38: 3:122282174-122282174
27 CASR NM_000388.4(CASR):c.166G>T (p.Glu56Ter) SNV Pathogenic 838073 GRCh37: 3:121973202-121973202
GRCh38: 3:122254355-122254355
28 CASR NM_000388.4(CASR):c.553C>T (p.Arg185Ter) SNV Pathogenic 8345 rs104893707 GRCh37: 3:121980435-121980435
GRCh38: 3:122261588-122261588
29 CASR Insertion Pathogenic 870267 GRCh37:
GRCh38:
30 CASR NM_000388.4(CASR):c.2656C>T (p.Arg886Trp) SNV Pathogenic 935768 GRCh37: 3:122003457-122003457
GRCh38: 3:122284610-122284610
31 CASR NM_000388.4(CASR):c.1983C>A (p.Cys661Ter) SNV Pathogenic 941127 GRCh37: 3:122002784-122002784
GRCh38: 3:122283937-122283937
32 CASR NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs) Duplication Pathogenic 950326 GRCh37: 3:122002697-122002698
GRCh38: 3:122283850-122283851
33 CASR NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) SNV Pathogenic 8352 rs104893716 GRCh37: 3:121994675-121994675
GRCh38: 3:122275828-122275828
34 CASR NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) SNV Pathogenic 410346 rs1060502856 GRCh37: 3:122003194-122003194
GRCh38: 3:122284347-122284347
35 CASR NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) SNV Pathogenic 35778 rs193922423 GRCh37: 3:121994806-121994806
GRCh38: 3:122275959-122275959
36 CASR NM_000388.4(CASR):c.108dup (p.Leu37fs) Duplication Pathogenic 280657 rs886041823 GRCh37: 3:121973138-121973139
GRCh38: 3:122254291-122254292
37 CASR NM_000388.4(CASR):c.2010_2011del (p.Glu671fs) Deletion Pathogenic 945014 GRCh37: 3:122002809-122002810
GRCh38: 3:122283962-122283963
38 CASR NM_000388.4(CASR):c.554G>A (p.Arg185Gln) SNV Pathogenic 8314 rs104893689 GRCh37: 3:121980436-121980436
GRCh38: 3:122261589-122261589
39 CASR NM_000388.4(CASR):c.196C>T (p.Arg66Cys) SNV Pathogenic 8335 rs121909266 GRCh37: 3:121975938-121975938
GRCh38: 3:122257091-122257091
40 CASR NM_000388.4(CASR):c.73C>T (p.Arg25Ter) SNV Pathogenic 372315 rs201633414 GRCh37: 3:121973109-121973109
GRCh38: 3:122254262-122254262
41 CASR NM_000388.4(CASR):c.658C>T (p.Arg220Trp) SNV Pathogenic 431804 rs1482119762 GRCh37: 3:121980540-121980540
GRCh38: 3:122261693-122261693
42 CASR NM_000388.4(CASR):c.554G>A (p.Arg185Gln) SNV Pathogenic 8314 rs104893689 GRCh37: 3:121980436-121980436
GRCh38: 3:122261589-122261589
43 CASR NM_000388.4(CASR):c.679C>T (p.Arg227Ter) SNV Pathogenic 532618 rs1085307984 GRCh37: 3:121980561-121980561
GRCh38: 3:122261714-122261714
44 CASR NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) SNV Pathogenic 379932 rs1057520791 GRCh37: 3:122003458-122003458
GRCh38: 3:122284611-122284611
45 CASR NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) SNV Pathogenic 280428 rs886041637 GRCh37: 3:122000981-122000981
GRCh38: 3:122282134-122282134
46 CASR NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) SNV Pathogenic 379932 rs1057520791 GRCh37: 3:122003458-122003458
GRCh38: 3:122284611-122284611
47 CASR NM_000388.4(CASR):c.514A>G (p.Arg172Gly) SNV Pathogenic 379844 rs201851934 GRCh37: 3:121980396-121980396
GRCh38: 3:122261549-122261549
48 CASR NM_000388.4(CASR):c.164C>T (p.Pro55Leu) SNV Pathogenic 279731 rs886041154 GRCh37: 3:121973200-121973200
GRCh38: 3:122254353-122254353
49 CASR NM_000388.4(CASR):c.380A>C (p.Glu127Ala) SNV Pathogenic 8315 rs121909260 GRCh37: 3:121976122-121976122
GRCh38: 3:122257275-122257275
50 CASR NM_000388.4(CASR):c.659G>A (p.Arg220Gln) SNV Likely pathogenic 448997 rs1202110240 GRCh37: 3:121980541-121980541
GRCh38: 3:122261694-122261694

UniProtKB/Swiss-Prot genetic disease variations for Hypocalciuric Hypercalcemia, Familial, Type I:

72 (show top 50) (show all 62)
# Symbol AA change Variation ID SNP ID
1 CASR p.Pro39Ala VAR_003585 rs121909262
2 CASR p.Arg62Met VAR_003586 rs121909265
3 CASR p.Arg66Cys VAR_003587 rs121909266
4 CASR p.Thr138Met VAR_003590 rs121909263
5 CASR p.Gly143Glu VAR_003591 rs121909264
6 CASR p.Leu174Arg VAR_003592
7 CASR p.Arg185Gln VAR_003593 rs104893689
8 CASR p.Arg227Gln VAR_003595 rs28936684
9 CASR p.Glu297Lys VAR_003596 rs121909259
10 CASR p.Cys582Tyr VAR_003597 rs104893690
11 CASR p.Arg795Trp VAR_003599 rs121909258
12 CASR p.Gly557Glu VAR_012649
13 CASR p.Leu11Ser VAR_058046 rs200673016
14 CASR p.Leu13Pro VAR_058047 rs104893717
15 CASR p.Gly21Arg VAR_058049 rs106479429
16 CASR p.Ser171Asn VAR_058056
17 CASR p.Phe180Cys VAR_058057 rs121909268
18 CASR p.Pro221Gln VAR_058059 rs397514728
19 CASR p.Lys225Thr VAR_058060
20 CASR p.Ser271Phe VAR_058062
21 CASR p.Gly397Arg VAR_058063 rs106479429
22 CASR p.Arg465Gln VAR_058064 rs104893716
23 CASR p.Gly509Arg VAR_058065 rs193922423
24 CASR p.Gly553Arg VAR_058066 rs104893719
25 CASR p.Ile555Val VAR_058067 rs777646067
26 CASR p.Cys562Tyr VAR_058068
27 CASR p.Cys582Phe VAR_058069 rs104893690
28 CASR p.Gly623Asp VAR_058072
29 CASR p.Gly670Arg VAR_058074
30 CASR p.Val728Phe VAR_058076
31 CASR p.Trp742Arg VAR_058077
32 CASR p.Arg886Trp VAR_058084
33 CASR p.Val697Met VAR_065494
34 CASR p.Phe42Ser VAR_078139 rs155376590
35 CASR p.Ser53Pro VAR_078140
36 CASR p.Pro55Leu VAR_078141 rs886041154
37 CASR p.Arg66His VAR_078142 rs127683936
38 CASR p.Ile81Met VAR_078143
39 CASR p.Ala110Thr VAR_078144
40 CASR p.Gly143Arg VAR_078149 rs769256610
41 CASR p.Gly158Arg VAR_078150
42 CASR p.Leu159Pro VAR_078151
43 CASR p.Ser166Gly VAR_078152 rs193922441
44 CASR p.Arg172Gly VAR_078153 rs201851934
45 CASR p.Asn178Asp VAR_078154 rs106050285
46 CASR p.Asp215Gly VAR_078155
47 CASR p.Arg220Trp VAR_078156 rs148211976
48 CASR p.Pro221Ser VAR_078158
49 CASR p.Gln459Arg VAR_078160
50 CASR p.Gly549Arg VAR_078161

Expression for Hypocalciuric Hypercalcemia, Familial, Type I

Search GEO for disease gene expression data for Hypocalciuric Hypercalcemia, Familial, Type I.

Pathways for Hypocalciuric Hypercalcemia, Familial, Type I

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 PTH GNA11 CDC73 CASR AP2S1 ADH4
2
Show member pathways
12.32 ADH4 ADH1B ADH1A
3
Show member pathways
12.06 ADH4 ADH1B ADH1A
4 11.36 PTH GNA11 CASR
5
Show member pathways
11.31 ADH4 ADH1A
6 11.2 PTH AP2S1
7 11.1 ADH4 ADH1A
8
Show member pathways
11.03 ADH4 ADH1B ADH1A
9 11 PTH GNA11
10
Show member pathways
10.5 ADH4 ADH1B
11 10.37 ADH1B ADH1A
12
Show member pathways
10.29 ADH4 ADH1B ADH1A

GO Terms for Hypocalciuric Hypercalcemia, Familial, Type I

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

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.37 ADH4 ADH1B
2 retinoic acid metabolic process GO:0042573 9.32 ADH1B ADH1A
3 response to fibroblast growth factor GO:0071774 9.26 PTH CASR
4 alcohol metabolic process GO:0006066 9.16 ADH4 ADH1A
5 retinol metabolic process GO:0042572 9.13 ADH4 ADH1B ADH1A
6 ethanol oxidation GO:0006069 8.8 ADH4 ADH1B ADH1A

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

# Name GO ID Score Top Affiliating Genes
1 alcohol dehydrogenase (NAD) activity GO:0004022 9.16 ADH4 ADH1A
2 retinol dehydrogenase activity GO:0004745 9.13 ADH4 ADH1B ADH1A
3 alcohol dehydrogenase activity, zinc-dependent GO:0004024 8.8 ADH4 ADH1B ADH1A

Sources for Hypocalciuric Hypercalcemia, Familial, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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