MCID: BRT041

Bartter Syndrome with Hypocalcemia malady

Categories: Nephrological diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Bartter Syndrome with Hypocalcemia

About this section
Sources:
51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Bartter Syndrome with Hypocalcemia:

Name: Bartter Syndrome with Hypocalcemia 51
Bartter Syndrome Type 5 51
 
Bartter Syndrome Type V 51

Characteristics:

Orphanet epidemiological data:

51
bartter syndrome with hypocalcemia:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 263417
ICD10 via Orphanet28 E26.8

Summaries for Bartter Syndrome with Hypocalcemia

About this section
MalaCards based summary: Bartter Syndrome with Hypocalcemia, is also known as bartter syndrome type 5 An important gene associated with Bartter Syndrome with Hypocalcemia is CASR (Calcium Sensing Receptor).

Related Diseases for Bartter Syndrome with Hypocalcemia

About this section

Symptoms for Bartter Syndrome with Hypocalcemia

About this section

Drugs & Therapeutics for Bartter Syndrome with Hypocalcemia

About this section

Drugs for Bartter Syndrome with Hypocalcemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones11748
2Calcium, Dietary4678

Interventional clinical trials:

idNameStatusNCT IDPhase
1Parathyroid Hormone (PTH) Homeostasis in Bartter SyndromeNot yet recruitingNCT01021280

Search NIH Clinical Center for Bartter Syndrome with Hypocalcemia

Genetic Tests for Bartter Syndrome with Hypocalcemia

About this section

Anatomical Context for Bartter Syndrome with Hypocalcemia

About this section

Animal Models for Bartter Syndrome with Hypocalcemia or affiliated genes

About this section

Publications for Bartter Syndrome with Hypocalcemia

About this section

Variations for Bartter Syndrome with Hypocalcemia

About this section

Expression for genes affiliated with Bartter Syndrome with Hypocalcemia

About this section
Search GEO for disease gene expression data for Bartter Syndrome with Hypocalcemia.

Pathways for genes affiliated with Bartter Syndrome with Hypocalcemia

About this section

GO Terms for genes affiliated with Bartter Syndrome with Hypocalcemia

About this section

Sources for Bartter Syndrome with Hypocalcemia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet