MCID: HYP113
MIFTS: 27

Hypertension with Brachydactyly malady

Rare diseases category

Aliases & Classifications for Hypertension with Brachydactyly

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Hypertension with Brachydactyly, Aliases & Descriptions:

Name: Hypertension with Brachydactyly 45 10
Brachydactyly with Hypertension 41 60
Brachydactyly Type E with Short Stature and Hypertension 41
 
Bilginturan Syndrome 41
Htnb 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

OMIM45 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:45 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
1tetrahydroaldosterone439.7REN, NR3C2
2fludrocortisone43 28 1211.7NR3C2, REN
3eplerenone43 59 28 1212.7NR3C2, REN
4glycyrrhetinic acid43 2410.7REN, NR3C2
5doca439.7NR3C2, REN
611 deoxycortisol439.7REN, NR3C2
7drospirenone43 28 49 1212.7NR3C2, REN
8glycyrrhizin43 2810.7REN, NR3C2
9thiazide439.7NR3C2, REN
10felodipine43 28 1211.7NR3C2, REN
11carbenoxolone43 28 1211.7REN, NR3C2
12hydrochlorothiazide43 28 49 24 1213.7REN, NR3C2
13enalapril43 49 1211.6REN, NR3C2
14spironolactone43 59 28 49 1213.6NR3C2, REN
1511beta-hydroxysteroid439.6NR3C2, REN
16captopril43 59 49 28 1213.6NR3C2, REN
17ang ii439.6NR3C2, REN
18amiloride43 28 1211.6NR3C2, REN
19losartan43 49 28 1212.6REN, NR3C2
20corticosterone43 59 2411.6NR3C2, REN
21haloperidol43 49 28 2 1213.5NR3C2, REN
22catecholamine439.5REN, NR3C2
23hydrocortisone43 2 59 1212.5REN, NR3C2
24tacrolimus43 49 1211.4NR3C2, REN
25acth439.4NR3C2, REN
26nacl439.3NR3C2, REN
27estradiol43 24 1211.3REN, NR3C2
28chloride439.2NR3C2, REN
29norepinephrine43 24 1211.0NR3C2, REN
30potassium43 24 1210.8ABCC9, NR3C2, REN

GO Terms for genes affiliated with Hypertension with Brachydactyly

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Products for genes affiliated with Hypertension with Brachydactyly

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Sources for Hypertension with Brachydactyly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet