MCID: HYP327
MIFTS: 12

Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy malady

Genetic diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Rare diseases categories
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Summaries for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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MalaCards based summary: Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy, is also known as hypertension due to gain-of-function mutations in the mineralocorticoid receptor and has symptoms including An important gene associated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy is NR3C2 (nuclear receptor subfamily 3, group C, member 2).

Description from OMIM:46 605115

Aliases & Classifications for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy, Aliases & Descriptions:

Name: Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 46
Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 48
 
Early-Onset Hypertension with Exacerbation in Pregnancy 48
Pseudohyperaldosteronism Type 2 48


Classifications:



External Ids:

ICD10 via Orphanet26 I15.1
OMIM46 605115

Related Diseases for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Symptoms for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Clinical features from OMIM:

605115

HPO human phenotypes related to Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertension HP:0000822
3 decreased circulating aldosterone level HP:0002924
4 decreased circulating renin level HP:0003351
5 maternal hypertension HP:0008071

Drugs & Therapeutics for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Drug clinical trials:

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Genetic Tests for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Anatomical Context for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Animal Models for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation... or affiliated genes

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Publications for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Variations for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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UniProtKB/Swiss-Prot genetic disease variations for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy:

64
id Symbol AA change Variation ID SNP ID
1NR3C2p.Ser810LeuVAR_015626rs41511344

Expression for genes affiliated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Expression patterns in normal tissues for genes affiliated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy

Search GEO for disease gene expression data for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy.

Pathways for genes affiliated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Compounds for genes affiliated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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GO Terms for genes affiliated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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Products for genes affiliated with Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet