MCID: HYP113
MIFTS: 27

Hypertension with Brachydactyly malady

Rare diseases category

Aliases & Classifications for Hypertension with Brachydactyly

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Aliases & Descriptions for Hypertension with Brachydactyly:

Name: Hypertension with Brachydactyly 46 9
Brachydactyly with Hypertension 42 61
Brachydactyly Type E with Short Stature and Hypertension 42
 
Bilginturan Syndrome 42
Htnb 42


Classifications:



External Ids:

OMIM46 112410

Summaries for Hypertension with Brachydactyly

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MalaCards based summary: Hypertension with Brachydactyly, also known as brachydactyly with hypertension, is related to brachydactyly and pseudohypoaldosteronism, type iie, and has symptoms including autosomal dominant inheritance, hypertension and short phalanx of finger. An important gene associated with Hypertension with Brachydactyly is HTNB (hypertension with brachydactyly), and among its related pathways is Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The compounds tetrahydroaldosterone and fludrocortisone have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and muscle.

Description from OMIM:46 112410

Related Diseases for Hypertension with Brachydactyly

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Graphical network of the top 20 diseases related to Hypertension with Brachydactyly:



Diseases related to hypertension with brachydactyly

Symptoms for Hypertension with Brachydactyly

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Symptoms by clinical synopsis from OMIM:

112410

Clinical features from OMIM:

112410

HPO human phenotypes related to Hypertension with Brachydactyly:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertension HP:0000822
3 short phalanx of finger HP:0009803
4 short metacarpal HP:0010049

Drugs & Therapeutics for Hypertension with Brachydactyly

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Drug clinical trials:

Search ClinicalTrials for Hypertension with Brachydactyly

Search NIH Clinical Center for Hypertension with Brachydactyly

Genetic Tests for Hypertension with Brachydactyly

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Anatomical Context for Hypertension with Brachydactyly

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Animal Models for Hypertension with Brachydactyly or affiliated genes

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MGI Mouse Phenotypes related to Hypertension with Brachydactyly:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5NR3C2, REN, ABCC9
2MP:00053698.2NR3C2, REN, ABCC9

Publications for Hypertension with Brachydactyly

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Articles related to Hypertension with Brachydactyly:

idTitleAuthorsYear
1
Childhood hypertension in autosomal-dominant hypertension with brachydactyly. (20837885)
2010
2
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. (12959913)
2003
3
Arterial hypertension with brachydactyly in a 15-year-old boy. (12811651)
2003
4
A cross-over medication trial for patients with autosomal-dominant hypertension with brachydactyly. (9453014)
1998
5
Autosomal dominant hypertension with brachydactyly: an enigmatic form of monogenic hypertension. (9641152)
1998

Variations for Hypertension with Brachydactyly

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Expression for genes affiliated with Hypertension with Brachydactyly

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Search GEO for disease gene expression data for Hypertension with Brachydactyly.

Pathways for genes affiliated with Hypertension with Brachydactyly

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Pathways related to Hypertension with Brachydactyly according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3NR3C2, REN

Compounds for genes affiliated with Hypertension with Brachydactyly

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Compounds related to Hypertension with Brachydactyly according to GeneCards Suite gene sharing:

(show all 30)
idCompoundScoreTop Affiliating Genes
1tetrahydroaldosterone449.7REN, NR3C2
2fludrocortisone44 28 1111.7NR3C2, REN
3eplerenone44 60 28 1112.7NR3C2, REN
4glycyrrhetinic acid44 2410.7REN, NR3C2
5doca449.7NR3C2, REN
611 deoxycortisol449.7REN, NR3C2
7drospirenone44 28 50 1112.7NR3C2, REN
8glycyrrhizin44 2810.7REN, NR3C2
9thiazide449.7NR3C2, REN
10felodipine44 28 1111.7NR3C2, REN
11carbenoxolone44 28 1111.7REN, NR3C2
12hydrochlorothiazide44 28 50 24 1113.7REN, NR3C2
13enalapril44 50 1111.6REN, NR3C2
14spironolactone44 60 28 50 1113.6NR3C2, REN
1511beta-hydroxysteroid449.6NR3C2, REN
16captopril44 60 50 28 1113.6NR3C2, REN
17ang ii449.6NR3C2, REN
18amiloride44 28 1111.6NR3C2, REN
19losartan44 50 28 1112.6REN, NR3C2
20corticosterone44 60 2411.6NR3C2, REN
21haloperidol44 50 28 1 1113.5NR3C2, REN
22catecholamine449.5REN, NR3C2
23hydrocortisone44 1 60 1112.5REN, NR3C2
24tacrolimus44 50 1111.4NR3C2, REN
25acth449.4NR3C2, REN
26nacl449.3NR3C2, REN
27estradiol44 24 1111.3REN, NR3C2
28chloride449.2NR3C2, REN
29norepinephrine44 24 1111.0NR3C2, REN
30potassium44 24 1110.8ABCC9, NR3C2, REN

GO Terms for genes affiliated with Hypertension with Brachydactyly

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Sources for Hypertension with Brachydactyly

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet