CASR - calcium sensing receptor Gene

Also Known as CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; hCasR; GPRC2A; HYPOC1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 846

About CASR

Cytogenetic location: 3q13.33-q21.1 Genomic coordinates (GRCh38): 3:122,183,668-122,291,629 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues, 4 paralogues and is associated with 8 phenotypes. Biased expression in kidney (RPKM 8.6), gall bladder (RPKM 2.1) and 2 other tissues.

Summary

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]

CASR Products (6)

mRNA Protein Name
XM_047449065.1 XP_047305021.1 extracellular calcium-sensing receptor isoform X2
XM_017007325.2 XP_016862814.1 extracellular calcium-sensing receptor isoform X1
NM_000388.4 NP_000379.3 extracellular calcium-sensing receptor isoform 2 precursor
XM_017007324.2 XP_016862813.1 extracellular calcium-sensing receptor isoform X1
NM_001178065.2 NP_001171536.2 extracellular calcium-sensing receptor isoform 1 precursor
XM_006713789.4 XP_006713852.1 extracellular calcium-sensing receptor isoform X1
Molecular Function GO Annotation Evidence Verweise Source
enables G protein-coupled receptor activity IDA
IDA: Inferred from direct assay
27434672 GOA
enables amino acid binding IDA
IDA: Inferred from direct assay
27434672 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
27434672 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
34194040 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20361938 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
16740594 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
27434672 GOA
involved in G protein-coupled receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
8636323 GOA
involved in calcium ion import IDA
IDA: Inferred from direct assay
20846291 GOA
involved in detection of calcium ion IDA
IDA: Inferred from direct assay
27434672 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: Inferred from direct assay
27434672 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in plasma membrane IDA
IDA: Inferred from direct assay
8702647 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CASR Protein Structure

ANF_receptor

ANF_receptor: Receptor family ligand binding region (69 - 495)

NCD3G

NCD3G: Nine Cysteines Domain of family 3 GPCR (538 - 591)

7tm_3

7tm_3: 7 transmembrane sweet-taste receptor of 3 GCPR (622 - 860)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1078 a.a.
Protein Preferred Names Protein Names

extracellular calcium-sensing receptor

  • parathyroid Ca(2+)-sensing receptor 1

  • parathyroid cell calcium-sensing receptor 1

CASR Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
CASR P41180 TMED2 Homo sapiens Q15363
Y2H
20361938
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CASR Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P79408 Calcium-sensing Receptor/CaSR Protein, Human (HEK293, His) P41180-1 (Y20-K601) ≥ 95%, as determined by reducing SDS-PAGE.

CASR Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P86831 CaSR Antibody (YA6524) WB, IHC-P, IF-Tissue Human, Mouse, Rat

Related Diseases

Diseases Alias
Hypoparathyroidism
  • Hypoparathyroidism, Idiopathic

  • Parathyroid, Underactivity Of

  • Syndrome With Hypoparathyroidism

  • Deficiency Of Parathyroid Hormone

  • Parathyroid Gland Insufficiency

  • Parathyroid Insufficiency

  • Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Hyperparathyroidism
  • Hyperparathyroidism And Other Disorders Of Parathyroid Gland

  • Parathyroid Hyperfunction

  • Hpth - [Hyperparathyroidism]

  • Parathyroid Gland Hyperfunction

  • Parathyroid Glandular Hyperfunction

Insulinoma
  • Islet Cell Adenoma

  • Insulin-Producing Tumor Of Islet Cells

  • Adenoma Islet Cell

  • Islet Cell Tumor

  • Experimental Organism Islet Cell Adenoma Neoplasm

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Hypoparathyroidism-Retardation-Dysmorphism Syndrome
  • Sanjad-Sakati Syndrome

  • Hrd Syndrome

  • HRDS

  • Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

  • Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome

  • Richardson-Kirk Syndrome

  • Sss

  • Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures

  • Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay

  • Hypoparathyroidism With Short Stature, Mental Retardation And Seizures

  • Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures

  • Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay

Gastrinoma
  • Gastrin Cell Tumour

  • Gastrin Secreting Tumor

  • Malignant Gastrinoma

  • Gastrinoma, Malignant

Chronic Kidney Disease
  • Chronic Renal Disease

  • Chronic Kidney Failure

  • Ckd

  • Chronic Renal Failure

  • Kidney Failure, Chronic

  • Chronic Renal Failure Syndrome

  • Crf

  • Renal Failure - Chronic

  • Renal Failure Chronic

  • Chronic Kidney Diseases

  • Chronic Kidney Disease Stage 5

  • Ckd - [Chronic Kidney Disease]

  • Crf - [Chronic Renal Failure]

  • Chronic Kidney Impairment

  • Chronic Renal Impairment

  • Chronic Kidney Shutdown

  • Chronic Hypoxic Kidney Failure

  • Chronic Kidney Collapse

  • Chronic Renal Insufficiency

  • Chronic Kidney Toxaemia

  • Chronic Kidney Hypofunction

  • Chronic Renal Suppression

  • Chronic Renal Failure, Stage 5

  • Ckd - [Chronic Kidney Disease] Stage 5

  • End Stage Kidney Failure

  • End Stage Renal Failure

  • End Stage Kidney Disease

  • End Stage Renal Disease

  • End Stage Chronic Renal Failure

  • Esrf - [End Stage Renal Failure]

  • Esrd - [End Stage Renal Diseases]

  • Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
  • 17-Ksr Deficiency

  • Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

  • Pseudohermaphroditism, Male, With Gynecomastia

  • 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

  • Testosterone 17-Beta-Dehydrogenase Deficiency

  • 17-Ketosteroid Reductase Deficiency Of Testis

  • 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

  • 17-Ketoreductase Deficiency

  • 17-Ketosteroidreductase Deficiency

  • 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

  • Male Pseudohermaphroditism With Gynecomastia

  • 17 Alpha Ksr Deficiency

  • 17 Alpha Ketosteroid Reductase Deficiency Of Testis

  • 17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

  • Male Pseudoherma-Phroditism With Gynecomastia

  • Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

  • Male Pseudohermaphrodism With Gynecomastia

  • MPH

  • 17-Hydroxysteroid Dehydrogenase Deficiency

Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

Bone Disease
  • Bone Diseases

  • Skeletal Disease

  • Skeletal Disorder

  • Disorder Of Skeletal System

Chondrocalcinosis
  • Pseudogout

  • Calcium Pyrophosphate Deposition Disease

  • Familial Chondrocalcinosis

  • Chondrocalcinosis Nos

  • Cppd - [Calcium Pyrophosphate Deposition Disease]

  • Cpdd - [Calcium Pyrophosphate Deposition Disease]

  • Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site

  • Chondrocalcinosis, Cause Unspecified

  • Chondrocalcinosis Due To Pyrophosphate Crystals

  • Chondrocalcinosis Articularis

  • Calcium Pyrophosphate Arthritis And Periarthritis

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
  • APS1

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  • Apeced

  • Pga I

  • Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

  • Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

  • Polyglandular Autoimmune Syndrome, Type 1

  • Autoimmune Polyglandular Syndrome Type 1

  • Autoimmune Polyendocrine Syndrome Type 1

  • Autoimmune Polyendocrinopathy Syndrome Type 1

  • Whitaker Syndrome

  • Aps Type 1

  • Polyglandular Type I Autoimmune Syndrome

  • Aps I

  • Autoimmune Polyglandular Syndrome, Type I

  • Polyglandular Autoimmune Syndrome, Type I

  • Aps 1

  • Autoimmune Polyglandular Syndrome Type I

  • Pga 1

  • Pga-I

  • Polyglandular Autoimmune Syndrome Type 1

  • Type I Polyglandular Autoimmune Syndrome

  • Aire Deficiency

  • Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

  • Autoimmune Polyglandular Syndrome, Type 1

  • Autoimmune Polyendocrinopathy Type 1

  • Apeced Syndrome

  • Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

  • Ham Syndrome

  • Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

  • Medac Syndrome

  • Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

  • Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

  • Aps-1

  • Autoimmune Polyendocrine Syndrome Type I

  • Autoimmune Polyendocrinopathy Syndrome Type I

  • Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

  • Polyglandular Autoimmune Syndrome Type I

  • Polyglandular Deficiency Syndrome Persian-Jewish Type

  • Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

  • Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Hyperparathyroidism, Neonatal Severe
  • NSHPT

  • Neonatal Severe Primary Hyperparathyroidism

  • Nsph

  • Nhpt

  • Hyperparathyroidism, Neonatal

  • Hyperparathyroidism, Neonatal Severe Primary

  • Neonatal Severe Hyperparathyroidism

  • Hyperparathyroidism, Severe, Neonatal

  • Neonatal Hyperparathyroidism

Parathyroid Adenoma
  • Adenoma Of Parathyroid

  • Adenoma Of The Parathyroid Gland

  • Parathyroid Gland Adenoma

Hypercalcemia, Infantile, 1
  • HCINF1

  • Hypercalcemia, Idiopathic, Of Infancy

  • Hypercalcemia Infantile

  • Idiopathic Hypercalcemia Of Infancy

  • Infantile Hypercalcemia

  • Hypercalcemia, Infantile

  • Hypercalcemia, Infantile, Type 1

  • Hypercalcemia

Nephrolithiasis
  • Kidney Stones

  • Stone - Kidney/Ureter

  • Kidney Calculi

Mineral Metabolism Disease
  • Mineral Metabolism Disorder

  • Disorder Of Mineral Metabolism

Nephrogenic Diabetes Insipidus
  • Vasopressin-Resistant Diabetes Insipidus

  • Diabetes Insipidus, Nephrogenic

  • Diabetes Insipidus Nephrogenic

  • Congenital Nephrogenic Diabetes Insipidus

  • Adh Resistant Diabetes Insipidus

  • Diabetes Insipidus Nephrogenic X-Linked

  • Diabetes Insipidus Nephrogenic Type 1

  • Adh-Resistant Diabetes Insipidus

  • Diabetes Insipidus Renalis

  • Ndi

  • Renal Diabetes Insipidus

  • Familial Nephrogenic Diabetes

  • Antidiuretic-Hormone-Resistant Diabetes Insipidus

  • Adiuretin-Resistant Diabetes Insipidus

  • Ndi - [Nephrogenic Diabetes Insipidus]

  • Diabetes Tenuifluus

  • Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

  • Hereditary Nephrogenic Diabetes Insipidus

  • Familial Nephrogenic Diabetes Insipidus

  • Primary Nephrogenic Diabetes Insipidus

Pancreatitis
  • Mumps Pancreatitis

Renal Tubular Transport Disease
  • Renal Tubular Transport, Inborn Errors

  • Inborn Renal Tubular Transport Disorder

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Bartter Disease
  • Bartter Syndrome

  • Bartter'S Syndrome

  • Aldosteronism With Hyperplasia Of The Adrenal Cortex

  • Hypokalemic Alkalosis With Hypercalciuria

  • Potassium Wasting

  • Juxtaglomerular Hyperplasia With Secondary Aldosteronism

  • Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

  • Salt-Losing Tubular Disorder, Henle'S Loop Type

  • Salt-Wasting Tubulopathy, Henle'S Loop Type

  • Bartters Syndrome

Hypocalciuric Hypercalcemia, Familial, Type Iii
  • HHC3

  • Familial Hypocalciuric Hypercalcemia 3

  • Fbh3

  • Familial Hypocalciuric Hypercalcemia Type 3

  • Hypercalcemia, Familial Benign, Oklahoma Type

  • Hypocalciuric Hypercalcemia, Type Iii

  • Fhh Type 3

  • Hypocalciuric Hypercalcemia Type Iii

  • Familial Benign Hypercalcemia, Type Iii

  • Hypercalcemia, Familial Benign, Type Iii

  • Fbhok

  • Familial Benign Hypercalcemia, Oklahoma Variant

  • Familial Benign Hypercalcemia, Type 3

  • Hypercalcemia, Familial Benign, Type 3

  • Hypocalciuric Hypercalcemia, Familial, Type 3

  • Hypocalciuric Hypercalcemia, Familial 3

  • Familial Benign Hypercalcemia 3

  • Familial Benign Hypercalcemia Oklahoma Type

  • Familial Benign Hypocalciuric Hypercalcemia 3

  • Fbhh3

  • Fhh3

Hypocalcemia, Autosomal Dominant 1
  • Autosomal Dominant Hypocalcemia

  • Autosomal Dominant Hypocalcemia 1

  • HYPOC1

  • Hypocalcemia, Autosomal Dominant

  • Hypercalciuric Hypocalcemia

  • Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

  • Familial Hypocalcemia

  • Hypocalcemia, Familial

  • Hypoc

  • Adh

  • Autosomal Dominant Hypoparathyroidism

  • Familial Hypercalciuric Hypocalcemia

  • Ad Hypocalcemia

  • Autosomal Dominant Hypocalcemia With Bartter Syndrome

  • Hypoparathyroidism - Autosomal Dominant

  • Hypocalcemia

Hypercalciuria, Absorptive, 2
  • HCA2

  • Hypercalciuria, Absorptive, Susceptibility To

  • Hypercalciuria, Absorptive

  • Familial Idiopathic Hypercalciuria

  • Hypercalciuria, Familial Idiopathic

  • Hypercalciuria Absorptive 2

  • Hypercalciuria Familial Idiopathic

  • Hypercalciuria, Absorptive, Type 2

  • Hypercalciuria

Epilepsy, Idiopathic Generalized
  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Parathyroid Gland Disease
  • Parathyroid Diseases

  • Disease Of Parathyroid Glands

  • Parathyroid Disease

Familial Isolated Hypoparathyroidism
  • Fih

Urolithiasis
Secondary Hyperparathyroidism
  • Hyperparathyroidism Secondary

  • Hyperparathyroidism, Secondary

  • Secondary Hyperparathyroidism Nec

Adenoma
  • Acinar Cell Adenoma

  • Adenomas

  • Acinic Cell Adenoma

Epilepsy, Myoclonic Juvenile
  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]

Renal Osteodystrophy
  • Renal Rickets

  • Chronic Kidney Disease-Mineral And Bone Disorder

Familial Hypocalciuric Hypercalcemia
  • Familial Benign Hypercalcemia

  • Fbh

  • Fbhh

  • Fhh

  • Familial Benign Hypocalciuric Hypercalcemia

  • Hypocalciuric Hypercalcemia, Familial, Type 1

Hyperparathyroidism 2 With Jaw Tumors
  • Hyperparathyroidism-Jaw Tumor Syndrome

  • Hpt-Jt

  • HRPT2

  • Familial Primary Hyperparathyroidism With Multiple Ossifying Jaw Fibromas

  • Parathyroid Adenoma With Cystic Changes

  • Hereditary Hyperparathyroidism-Jaw Tumor Syndrome

  • Hyperparathyroidism 2

  • Hyperparathyroidism, Familial Primary, With Multiple Ossifying Jaw Fibromas

  • Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary

  • Familial Cystic Parathyroid Adenomatosis

  • Hyperparathyroidism-Jaw Tumor Syndrome, Type 2

  • Parathyroid Adenomatosis, Familial Cystic

Autoimmune Polyendocrine Syndrome Type 1
  • Whitaker Syndrome

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

  • Autoimmune Polyglandular Syndrome I

  • Polyglandular Type I Autoimmune Syndrome

Basal Ganglia Disease
  • Basal Ganglia Diseases

  • Basal Ganglia Disorders

  • Abnormality Of The Basal Ganglia

Gitelman Syndrome
  • Familial Hypokalemia-Hypomagnesemia

  • Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria

  • Potassium And Magnesium Depletion

  • GTLMNS

  • Gitelman'S Syndrome

  • Gs

  • Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria

  • Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria

  • Bartter Syndrome Gitelman Variant

  • Bartter Syndrome Hypocalciuric Variant

  • Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Diabetes Insipidus
Inflammatory Diarrhea
Epilepsy, Idiopathic Generalized 8
  • Epilepsy, Idiopathic Generalized, Susceptibility To, 8

  • EIG8

  • Epilepsy Idiopathic Generalized, Susceptibility To, 8

  • Epilepsy Idiopathic Generalized 8

  • Idiopathic Generalized Epilepsy 8

  • Susceptibility To Idiopathic Generalized Epilepsy 8

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 8

Hyperphosphatemia
Bartter Syndrome, Type 3
  • Bartter Disease Type 3

  • BARTS3

  • Bartter Syndrome Type 3

  • Bartter Syndrome, Classic

  • Classic Bartter Syndrome

  • Bartter Syndrome Classic

  • Bartter Syndrome Type Iii

  • Bartter Syndrome 3

Rickets
  • Vitamin D Deficiency

  • Active Rickets

  • Hypovitaminosis D

  • Nutritional Rickets

  • Vitamin D Deficiency Disease

  • Vitamin-D Deficiency Rickets

  • Vitamin D

  • Vitamin D-Dependent Rickets

  • Avitaminosis D

  • Infantile Osteomalacia

  • Juvenile Osteomalacia

Uremia
  • Uremia Of Renal Origin

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Parathyroid Carcinoma
  • Parathyroid Cancer

  • Parathyroid Neoplasms

  • Malignant Tumor Of Parathyroid Gland

  • PRTC

  • Carcinoma Of Parathyroid Gland

  • Malignant Neoplasm Of Parathyroid Gland

  • Parathyroid Gland Adenocarcinoma

  • Parathyroid Gland Cancer

  • Parathyroid Neoplasm

  • Parathyroid Gland Carcinoma

  • Malignant Neoplasm Of The Parathyroid

  • Neoplasm Of Parathyroid Gland

  • Parathyroid Gland Neoplasm

  • Cancer Of The Parathyroid

  • Cancer Of The Parathyroid Gland

  • Malignant Neoplasm Of Parathyroid

  • Malignant Parathyroid Gland Neoplasm

  • Malignant Parathyroid Gland Tumor

  • Malignant Parathyroid Neoplasm

  • Malignant Parathyroid Tumor

  • Malignant Tumor Of Parathyroid

  • Parathyroid Adenocarcinoma

  • Neoplasm Of The Parathyroid Gland

  • Carcinoma, Parathyroid

Hypocalciuric Hypercalcemia, Familial, Type Ii
  • HHC2

  • Familial Hypocalciuric Hypercalcemia 2

  • Fbh2

  • Familial Hypocalciuric Hypercalcemia Type 2

  • Hypocalciuric Hypercalcemia, Type Ii

  • Fhh Type 2

  • Familial Benign Hypercalcemia, Type Ii

  • Hypercalcemia, Familial Benign, Type Ii

  • Hypocalciuric Hypercalcemia Type Ii

  • Familial Benign Hypercalcemia, Type 2

  • Hypercalcemia, Familial Benign Type 2

  • Hypocalciuric Hypercalcemia, Familial, Type 2

  • Hypocalciuric Hypercalcemia, Familial 2

  • Familial Benign Hypercalcemia Type Ii

  • Hypocalciuric Hypercalcemia-2

Primary Hyperparathyroidism
  • Familial Primary Hyperparathyroidism

  • Hyperparathyroidism, Primary

  • Hyperparathyroidism Primary

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Benign Hypercalcemia

  • Familial Hyperparathyroidism

  • Parathyroid Enlargement

Pancreatitis, Hereditary
  • Hereditary Pancreatitis

  • Chronic Pancreatitis

  • Hereditary Chronic Pancreatitis

  • Hp

  • Pancreatitis, Chronic, Susceptibility To

  • PCTT

  • Hpc

  • Pancreatitis, Chronic

  • Pancreatitis, Chronic, Protection Against

  • Autosomal Dominant Hereditary Pancreatitis

  • Familial Pancreatitis

  • Cp

  • Pancreatitis Hereditary

Osteitis Fibrosa
  • Osteitis Fibrosa Cystica

  • Hyperparathyroid Bone Disease

  • Osteitis Fibrosa Cystica Generalisata

  • Von Recklinghausen'S Bone Disease

  • Osteitis Fibrosa Disseminata

Calciphylaxis
  • Idiopathic Calciphylaxis

Hypertension, Essential
  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy, Hypertrophic, Familial

  • Familial Hypertrophic Cardiomyopathy

  • Cardiomyopathy Hypertrophic Obstructive

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Kenny-Caffey Syndrome
  • Kenny Syndrome

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Basal Ganglia Calcification
  • Fahr'S Syndrome

  • Fahr'S Disease

  • Fahr Disease

Sialolithiasis
  • Sialolith

  • Stone Of Salivary Gland Or Duct

  • Salivary Gland Calculi

  • Salivary Gland Stone

  • Calculus Of Salivary Gland Or Duct

  • Calculus Of Salivary Gland

  • Salivary Calculus

  • Salivary Gland Calculus

  • Salivary Stone

  • Salivary Duct Calculi

  • Sialodocholithiasis

Hypoparathyroidism-Deafness-Renal Disease Syndrome
  • Barakat Syndrome

  • Hypoparathyroidism, Deafness, Renal Disease Syndrome

  • Hdr Syndrome

  • Hypoparathyroidism, Sensorineural Deafness, And Renal Disease

Autoimmune Polyendocrine Syndrome
  • Autoimmune Polyendocrinopathy

  • Autoimmune Polyglandular Failure

  • Autoimmune Polyglandular Syndrome

  • Polyendocrinopathies, Autoimmune

  • Lloyd'S Syndrome

  • Aps

  • Polyendocrinopathies Autoimmune

  • Polyendocrine Autoimmunity Syndrome

  • Lloyd Syndrome

  • Polyglandular Autoimmune Deficiency

  • Progressive Pluriglandular Insufficiency

  • Pluriglandular Autoimmune Atrophy

  • Pluriglandular Autoimmune Syndrome

  • Thyroid-Adrenocortical Insufficiency Syndrome

Diarrhea 1, Secretory Chloride, Congenital
  • DIAR1

  • Chloride Diarrhea, Congenital, Finnish Type

  • Congenital Secretory Chloride Diarrhea 1

  • Congenital Chloride Diarrhea Finnish Type

  • Congenital Chloride Diarrhea

  • Chloridorrhea, Congenital

  • Congenital Chloride Diarrhoea Finnish Type

  • Congenital Chloridorrhea

  • Congenital Secretory Chloride Diarrhoea 1

  • Chloridorrhea Congenital

  • Cld

  • Diarrhea 1 Secretory Chloride Congenital

  • Diarrhea, Type 1, Chloride, Secretory, Congenital

Hypokalemia
  • Potassium Deficiency

  • Potassium Deficiency Disorder

  • Hypopotassemia

  • Potassium

  • Potassium [K] Deficiency

  • Hypokalaemic Syndrome

  • Hypopotassaemia

  • Hypopotassaemia Syndrome

  • Hypokalaemic

  • Potassium Depletion

Bartter Syndrome, Type 2, Antenatal
  • Bartter Disease Type 2

  • BARTS2

  • Hyperprostaglandin E Syndrome 2

  • Bartter Syndrome, Type 2

  • Bartter Syndrome Type 2

  • Hypokalemic Alkalosis With Hypercalciuria Antenatal 2

  • Hypokalemic Alkalosis With Hypercalciuria 2, Antenatal

  • Bartter Syndrome Type 2 Antenatal

  • Hypokalemic Alkalosis With Hypercalciuria 2 Antenatal

  • Bartter Syndrome Antenatal Type 2

  • Bartter Syndrome Type Ii

  • Bartter Syndrome 2, Antenatal

  • Abs2

  • Antenatal Bartter Syndrome 2

  • Bartter Syndrome 2

  • Bs2

  • Hyperprostanglandin E Syndrome 2

  • Bartter Syndrome, Antenatal , Type 2

  • Antley-Bixler Syndrome, Autosomal Dominant

Hypocalciuric Hypercalcemia, Familial, Type I
  • HHC1

  • Familial Hypocalciuric Hypercalcemia 1

  • Fhh1

  • Familial Benign Hypercalcemia 1

  • Fbh1

  • Hypocalciuric Hypercalcemia, Type I

  • Fhh Type 1

  • Hhc

  • Fhh

  • Hypercalcemia, Familial Benign

  • Hypocalciuric Hypercalcemia Type I

  • Familial Hypocalciuric Hypercalcemia Type 1

  • Hypocalciuric Hypercalcemia, Familial, Type 1

  • Familial Hypocalciuric Hypercalcemia Type I

  • Familial Benign Hypercalcemia Type 1

  • Hypercalcemia, Familial Benign Type 1

  • Hypocalciuric Hypercalcemia, Familial 1

  • Familial Benign Hypocalciuric Hypercalcemia 1

  • Fbhh1

Osteomalacia
  • Adult Rickets

Diabetes Mellitus
  • Diabetes

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Sensorineural Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Conn'S Syndrome
  • Cushing Syndrome

  • Hyperaldosteronism

  • Primary Hyperaldosteronism

  • Hypercortisolism

  • Primary Aldosteronism

  • Cushing'S Syndrome

  • Adrenal Gland Hyperfunction

  • Conn Syndrome

  • Hyperadrenalism

  • Ectopic Acth Syndrome

  • Hyperadrenocorticism

  • Cushing Disease

  • Adrenal Cortex Adenoma

  • Corticotroph Pituitary Adenoma

  • Cushing'S Disease

  • Pituitary Corticotroph Micro-Adenoma

  • Pituitary-Dependent Cushing Syndrome

  • Pituitary Acth Hypersecretion

  • Acth Syndrome, Ectopic

  • Acth-Secreting Pituitary Adenoma

  • Adrenal Hyperfunction Resulting From Pituitary Acth Excess

  • Ectopic Adrenocorticotropic Hormone Syndrome

  • Nodular Primary Adrenocortical Dysplasia

  • Pituitary Dependent Cushing Syndrome

  • Pituitary Cushing Syndrome

  • Pituitary-Dependant Cushing Syndrome

  • Pituitary-Dependant Hypercortisolism

  • Pituitary-Dependant Hypercortisolism Disorder

  • Aldosteronism Primary

  • Acth Syndrome Ectopic

  • Adrenal Cushing'S Syndrome

  • Adrenal Cortical Adenoma

  • Cushing Syndrome Nos

  • Cortisol Hypersecretion

  • Corticoadrenal Hypersecretion

  • Cushing Syndrome Secondary To Ectopic Acth-Secretion

  • Ectopic Cushing Syndrome

  • Hypercortisolism Due To Nonpituitary Tumour

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

  • Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

  • Idiopathic Aldosteronism

  • Aldosteronism

  • Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

  • Primary Aldosteronism Due To Adrenal Hyperplasia

Nephrolithiasis, Calcium Oxalate
  • Kidney Stones

  • Calculus Of Kidney

  • Kidney Calculi

  • Nephrolithiasis

  • Renal Calculi

  • Calcium Oxalate Urolithiasis

  • CAON

  • Urolithiasis, Calcium Oxalate

  • Calcium Oxalate Nephrolithiasis

  • Kidney Stone

  • Nephrolith

  • Renal Calculus

  • Urinary Stones

  • Renal Stone

  • Calculus, Kidney

  • Calculus, Renal

  • Renal Lithiasis

  • Renal Stones

  • Urolithiasis

  • Renal Calculus Or Stone

  • Stone In Kidney

  • Nephritic Calculus

  • Multiple Kidney Calculi

  • Multiple Kidney Calculus

  • Nephrolithiasis Nos

  • Pelvic Nephrolithiasis

  • Pelviolithiasis

  • Pelvis Nephrolithiasis

Multiple Endocrine Neoplasia, Type I
  • Multiple Endocrine Neoplasia Type 1

  • MEN1

  • Wermer Syndrome

  • Multiple Endocrine Neoplasia 1

  • Multiple Endocrine Neoplasia, Type 1

  • Men I

  • Endocrine Adenomatosis, Multiple

  • Mea I

  • Men Type I

  • Wermer'S Syndrome

  • Men1 Syndrome

  • Multiple Endocrine Adenomatosis

  • Endocrine Adenomatosis Multiple

  • Men 1

  • Familial Multiple Endocrine Neoplasia Type I

  • Neoplasia, Endocrine, Multiple, Type 1

  • Multiple Endocrine Neoplasia

Nephrocalcinosis
  • Hypercalcemic Nephropathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CASR VGNC VGNC:26788
Rattus norvegicus CASR RGD RGD:2277
Felis catus CASR VGNC VGNC:60388
Canis familiaris CASR VGNC VGNC:38740
Mus musculus CASR MGD MGI:1351351
Macaca mulatta CASR VGNC VGNC:70550
Others CASR NCBI