HHC1
MCID: HYP752
MIFTS: 38

Hypocalciuric Hypercalcemia, Familial, Type I (HHC1)

Categories: Bone 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 53 29 6 73
Hhc1 57 12 53 75
Hypocalciuric Hypercalcemia, Type I 57 13 40
Familial Benign Hypercalcemia 1 57 12 75
Fhh Type 1 12 53 59
Fhh1 57 53 75
Fbh1 57 53 75
Familial Hypocalciuric Hypercalcemia Type 1 53 59
Familial Hypocalciuric Hypercalcemia 1 12 15
Hypocalciuric Hypercalcemia Type I 12 75
Hypercalcemia, Familial Benign 57 55
Hhc 57 75
Fhh 57 75
Familial Benign Hypocalciuric Hypercalcemia 1 75
Familial Hypocalciuric Hypercalcemia Type I 12
Hypocalciuric Hypercalcemia, Familial 1 75
Familial Benign Hypercalcemia 1; Fbh1 57
Hypercalcemia, Familial Benign Type 1 53
Familial Benign Hypercalcemia Type 1 53
Hhc; Fhh 57
Fbhh1 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
neonatal severe hyperparathyroidism in homozygotes


HPO:

32
hypocalciuric hypercalcemia, familial, type i:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 145980
Disease Ontology 12 DOID:0060700
ICD10 33 E83.5
Orphanet 59 ORPHA93372
MESH via Orphanet 45 C537145
UMLS via Orphanet 74 C0342637 C1809471
ICD10 via Orphanet 34 E83.5
MeSH 44 D006934
UMLS 73 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)

MalaCards based summary : Hypocalciuric Hypercalcemia, Familial, Type I, also known as hypocalciuric hypercalcemia, familial, type 1, is related to familial hypocalciuric hypercalcemia and hypocalciuric hypercalcemia, familial, type iii. An important gene associated with Hypocalciuric Hypercalcemia, Familial, Type I is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Parathyroid hormone synthesis, secretion and action. The drugs Plasminogen and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are pancreatitis 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 : 75 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 all 38)
# Related Disease Score Top Affiliating Genes
1 familial hypocalciuric hypercalcemia 32.7 PTH GNA11 CASR AP2S1
2 hypocalciuric hypercalcemia, familial, type iii 32.2 PTH GNA11 CASR AP2S1
3 primary hyperparathyroidism 31.8 PTH CASR
4 hypocalciuric hypercalcemia, familial, type ii 31.1 PTH GNA11 CASR AP2S1
5 hyperparathyroidism 30.1 PTH CASR
6 hyperferritinemia with or without cataract 11.8
7 hyperparathyroidism, neonatal severe 11.7
8 hemochromatosis, type 1 11.1
9 cataract 10.2
10 rickets 10.0
11 hypoparathyroidism, familial isolated 10.0 PTH CASR
12 hypoparathyroidism 10.0 PTH CASR
13 calciphylaxis 10.0 PTH CASR
14 deficiency anemia 10.0
15 iron deficiency anemia 10.0
16 iron metabolism disease 10.0
17 osteitis fibrosa 10.0 PTH CASR
18 hypercalcemia, infantile, 1 10.0 PTH CASR
19 familial isolated hyperparathyroidism 10.0 PTH CASR
20 phosphorus metabolism disease 10.0 PTH CASR
21 secondary hyperparathyroidism of renal origin 10.0 PTH CASR
22 metal metabolism disorder 10.0 PTH CASR
23 parathyroid gland disease 10.0 PTH CASR
24 renal osteodystrophy 10.0 PTH CASR
25 mineral metabolism disease 10.0 PTH CASR
26 parathyroid carcinoma 10.0 PTH CASR
27 osteomalacia 10.0 PTH CASR
28 hyperphosphatemia 10.0 PTH CASR
29 parathyroid adenoma 10.0 PTH CASR
30 uremia 10.0 PTH CASR
31 multiple endocrine neoplasia, type i 10.0 PTH CASR
32 nephrocalcinosis 9.9 PTH CASR
33 pseudopseudohypoparathyroidism 9.9 PTH GNA11
34 nephrolithiasis 9.9 PTH CASR
35 chronic kidney failure 9.9 PTH CASR
36 bone disease 9.8 PTH CASR
37 hypocalcemia, autosomal dominant 1 9.7 PTH GNA11 CASR
38 chondrocalcinosis 9.7 GNA11 CASR AP2S1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 pancreatitis 32 HP:0001733
2 nephrolithiasis 32 HP:0000787
3 hyperparathyroidism 32 HP:0000843
4 hypercalcemia 32 HP:0003072
5 hypocalciuria 32 HP:0003127
6 hypermagnesemia 32 HP:0002918

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Familial, Type I

Drugs for Hypocalciuric Hypercalcemia, Familial, Type I (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 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:

41
Bone, Kidney

Publications for Hypocalciuric Hypercalcemia, Familial, Type I

Articles related to Hypocalciuric Hypercalcemia, Familial, Type I:

# Title Authors Year
1
Increased trabecular volumetric bone mass density in Familial Hypocalciuric Hypercalcemia (FHH) type 1: a cross-sectional study. ( 24894639 )
2014

Variations for Hypocalciuric Hypercalcemia, Familial, Type I

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

75 (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
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
45 CASR p.Asn178Asp VAR_078154 rs106050285
46 CASR p.Asp215Gly VAR_078155
47 CASR p.Arg220Trp VAR_078156
48 CASR p.Pro221Ser VAR_078158
49 CASR p.Gln459Arg VAR_078160
50 CASR p.Gly549Arg VAR_078161

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

6 (show top 50) (show all 703)
# Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.2383C> T (p.Arg795Trp) single nucleotide variant Pathogenic rs121909258 GRCh37 Chromosome 3, 122003184: 122003184
2 CASR NM_000388.3(CASR): c.2383C> T (p.Arg795Trp) single nucleotide variant Pathogenic rs121909258 GRCh38 Chromosome 3, 122284337: 122284337
3 CASR NM_000388.3(CASR): c.889G> A (p.Glu297Lys) single nucleotide variant Pathogenic rs121909259 GRCh37 Chromosome 3, 121980771: 121980771
4 CASR NM_000388.3(CASR): c.889G> A (p.Glu297Lys) single nucleotide variant Pathogenic rs121909259 GRCh38 Chromosome 3, 122261924: 122261924
5 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh37 Chromosome 3, 121980436: 121980436
6 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh38 Chromosome 3, 122261589: 122261589
7 CASR CASR, ALU INS, CODON 877 insertion Pathogenic
8 CASR NM_000388.3(CASR): c.1745G> A (p.Cys582Tyr) single nucleotide variant Uncertain significance rs104893690 GRCh37 Chromosome 3, 122002546: 122002546
9 CASR NM_000388.3(CASR): c.1745G> A (p.Cys582Tyr) single nucleotide variant Uncertain significance rs104893690 GRCh38 Chromosome 3, 122283699: 122283699
10 CASR NM_000388.3(CASR): c.115C> G (p.Pro39Ala) single nucleotide variant Pathogenic rs121909262 GRCh37 Chromosome 3, 121973151: 121973151
11 CASR NM_000388.3(CASR): c.115C> G (p.Pro39Ala) single nucleotide variant Pathogenic rs121909262 GRCh38 Chromosome 3, 122254304: 122254304
12 CASR NM_000388.3(CASR): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs28936684 GRCh37 Chromosome 3, 121980562: 121980562
13 CASR NM_000388.3(CASR): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs28936684 GRCh38 Chromosome 3, 122261715: 122261715
14 CASR NM_000388.3(CASR): c.413C> T (p.Thr138Met) single nucleotide variant Likely pathogenic rs121909263 GRCh37 Chromosome 3, 121976155: 121976155
15 CASR NM_000388.3(CASR): c.413C> T (p.Thr138Met) single nucleotide variant Likely pathogenic rs121909263 GRCh38 Chromosome 3, 122257308: 122257308
16 CASR NM_000388.3(CASR): c.428G> A (p.Gly143Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121909264 GRCh37 Chromosome 3, 121976170: 121976170
17 CASR NM_000388.3(CASR): c.428G> A (p.Gly143Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121909264 GRCh38 Chromosome 3, 122257323: 122257323
18 CASR NM_000388.3(CASR): c.185G> T (p.Arg62Met) single nucleotide variant Pathogenic rs121909265 GRCh37 Chromosome 3, 121973221: 121973221
19 CASR NM_000388.3(CASR): c.185G> T (p.Arg62Met) single nucleotide variant Pathogenic rs121909265 GRCh38 Chromosome 3, 122254374: 122254374
20 CASR NM_000388.3(CASR): c.196C> T (p.Arg66Cys) single nucleotide variant Likely pathogenic rs121909266 GRCh37 Chromosome 3, 121975938: 121975938
21 CASR NM_000388.3(CASR): c.196C> T (p.Arg66Cys) single nucleotide variant Likely pathogenic rs121909266 GRCh38 Chromosome 3, 122257091: 122257091
22 CASR NM_000388.3(CASR): c.2641T> C (p.Phe881Leu) single nucleotide variant Uncertain significance rs104893704 GRCh37 Chromosome 3, 122003442: 122003442
23 CASR NM_000388.3(CASR): c.2641T> C (p.Phe881Leu) single nucleotide variant Uncertain significance rs104893704 GRCh38 Chromosome 3, 122284595: 122284595
24 CASR NM_000388.3(CASR): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs104893705 GRCh37 Chromosome 3, 122002743: 122002743
25 CASR NM_000388.3(CASR): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs104893705 GRCh38 Chromosome 3, 122283896: 122283896
26 CASR NM_000388.3(CASR): c.186-1G> T single nucleotide variant Pathogenic rs797044441 GRCh37 Chromosome 3, 121975927: 121975927
27 CASR NM_000388.3(CASR): c.186-1G> T single nucleotide variant Pathogenic rs797044441 GRCh38 Chromosome 3, 122257080: 122257080
28 CASR NM_000388.3(CASR): c.1394G> A (p.Arg465Gln) single nucleotide variant Uncertain significance rs104893716 GRCh37 Chromosome 3, 121994675: 121994675
29 CASR NM_000388.3(CASR): c.1394G> A (p.Arg465Gln) single nucleotide variant Uncertain significance rs104893716 GRCh38 Chromosome 3, 122275828: 122275828
30 CASR NM_000388.3(CASR): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104893717 GRCh37 Chromosome 3, 121973074: 121973074
31 CASR NM_000388.3(CASR): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104893717 GRCh38 Chromosome 3, 122254227: 122254227
32 CASR NM_000388.3(CASR): c.539T> G (p.Phe180Cys) single nucleotide variant Pathogenic rs121909268 GRCh37 Chromosome 3, 121980421: 121980421
33 CASR NM_000388.3(CASR): c.539T> G (p.Phe180Cys) single nucleotide variant Pathogenic rs121909268 GRCh38 Chromosome 3, 122261574: 122261574
34 CASR NM_000388.3(CASR): c.1745G> T (p.Cys582Phe) single nucleotide variant Pathogenic rs104893690 GRCh37 Chromosome 3, 122002546: 122002546
35 CASR NM_000388.3(CASR): c.1745G> T (p.Cys582Phe) single nucleotide variant Pathogenic rs104893690 GRCh38 Chromosome 3, 122283699: 122283699
36 CASR NM_000388.3(CASR): c.1657G> A (p.Gly553Arg) single nucleotide variant Pathogenic rs104893719 GRCh37 Chromosome 3, 122001008: 122001008
37 CASR NM_000388.3(CASR): c.1657G> A (p.Gly553Arg) single nucleotide variant Pathogenic rs104893719 GRCh38 Chromosome 3, 122282161: 122282161
38 CASR NM_000388.3(CASR): c.2693G> A (p.Arg898Gln) single nucleotide variant Uncertain significance rs121909269 GRCh37 Chromosome 3, 122003494: 122003494
39 CASR NM_000388.3(CASR): c.2693G> A (p.Arg898Gln) single nucleotide variant Uncertain significance rs121909269 GRCh38 Chromosome 3, 122284647: 122284647
40 CASR NM_000388.3(CASR): c.106G> A (p.Gly36Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs193922420 GRCh37 Chromosome 3, 121973142: 121973142
41 CASR NM_000388.3(CASR): c.106G> A (p.Gly36Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs193922420 GRCh38 Chromosome 3, 122254295: 122254295
42 CASR NM_000388.3(CASR): c.1333A> G (p.Thr445Ala) single nucleotide variant Benign/Likely benign rs12493789 GRCh37 Chromosome 3, 121981215: 121981215
43 CASR NM_000388.3(CASR): c.1333A> G (p.Thr445Ala) single nucleotide variant Benign/Likely benign rs12493789 GRCh38 Chromosome 3, 122262368: 122262368
44 CASR NM_000388.3(CASR): c.206G> A (p.Arg69His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922432 GRCh37 Chromosome 3, 121975948: 121975948
45 CASR NM_000388.3(CASR): c.206G> A (p.Arg69His) single nucleotide variant Conflicting interpretations of pathogenicity rs193922432 GRCh38 Chromosome 3, 122257101: 122257101
46 CASR NM_000388.3(CASR): c.2254C> T (p.Arg752Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922434 GRCh37 Chromosome 3, 122003055: 122003055
47 CASR NM_000388.3(CASR): c.2254C> T (p.Arg752Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922434 GRCh38 Chromosome 3, 122284208: 122284208
48 CASR NM_000388.3(CASR): c.3091G> A (p.Gly1031Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142704083 GRCh37 Chromosome 3, 122003892: 122003892
49 CASR NM_000388.3(CASR): c.3091G> A (p.Gly1031Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142704083 GRCh38 Chromosome 3, 122285045: 122285045
50 CASR NM_000388.3(CASR): c.496A> G (p.Ser166Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs193922441 GRCh37 Chromosome 3, 121980378: 121980378

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:

# Super pathways Score Top Affiliating Genes
1 11.26 CASR GNA11
2 10.82 CASR GNA11 PTH
3 10.55 GNA11 PTH

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 G protein-coupled receptor signaling pathway GO:0007186 9.43 CASR GNA11 PTH
2 skeletal system development GO:0001501 9.16 GNA11 PTH
3 cellular calcium ion homeostasis GO:0006874 8.96 CASR PTH
4 response to fibroblast growth factor GO:0071774 8.62 CASR PTH

Sources for Hypocalciuric Hypercalcemia, Familial, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....