MCID: FML187
MIFTS: 35

Familial Hypertension

Categories: Rare diseases, Cardiovascular diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Familial Hypertension

MalaCards integrated aliases for Familial Hypertension:

Name: Familial Hypertension 49
Genetic Hypertension 69 28

Classifications:



External Ids:

UMLS 69 C0598428

Summaries for Familial Hypertension

MalaCards based summary : Familial Hypertension, also known as genetic hypertension, is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type iie. An important gene associated with Familial Hypertension is WNK4 (WNK Lysine Deficient Protein Kinase 4), and among its related pathways/superpathways are Renin secretion and ACE Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include testes and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Familial Hypertension

Diseases in the Familial Hypertension family:

Hypertension, Essential Hypertension, Essential 1
Hypertension, Essential 2 Hypertension, Essential 3
Hypertension, Essential 4 Hypertension, Essential 5
Hypertension, Essential 6 Hypertension, Essential 7
Hypertension, Essential 8 Malignant Essential Hypertension
Malignant Hypertension Benign Essential Hypertension
Benign Secondary Hypertension Malignant Secondary Hypertension

Diseases related to Familial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 32.5 CUL3 KLHL3
2 pseudohypoaldosteronism, type iie 32.0 CUL3 KLHL3
3 pseudohypoaldosteronism 28.9 CUL3 KLHL3 NR3C2 WNK1 WNK4
4 apparent mineralocorticoid excess 28.7 HSD11B2 NR3C2 REN
5 myocardial infarction 27.9 AGT AGTR1 NPPA NR3C2 REN
6 heart disease 27.7 AGTR1 BMPR2 NPPA NR3C2 REN
7 fibromuscular dysplasia 10.3 AGT AGTR1 REN
8 oligohydramnios 10.2 AGT AGTR1 REN
9 renal tubular dysgenesis 10.2 AGT AGTR1 REN
10 renal dysplasia 10.2 AGT AGTR1 REN
11 vesicoureteral reflux 1 10.2 AGT AGTR1 REN
12 renal tubular transport disease 10.2 KLHL3 REN WNK1 WNK4
13 aldosterone-producing adenoma 10.2 CYP11B2 REN
14 congenital hepatic fibrosis 10.2 AGTR1 REN
15 arteries, anomalies of 10.1 AGT AGTR1 REN
16 mitral valve disease 10.1 AGT AGTR1 NPPA
17 renal artery disease 10.0 AGTR1 NPPA REN
18 aortic coarctation 10.0 AGT AGTR1 CYP11B2 GRK4
19 renovascular hypertension 10.0 AGTR1 NPPA REN
20 postural hypotension 10.0 NPPA REN
21 hypoaldosteronism 9.9 CYP11B2 NPPA REN
22 aortic valve disease 2 9.9 AGT NPPA REN
23 arthrogryposis, distal, type 3 9.9 NR3C2 REN WNK1 WNK4
24 malignant hypertension 9.9 AGT AGTR1 NPPA REN
25 renal fibrosis 9.9 AGTR1 NR3C2 REN
26 endocrine organ benign neoplasm 9.8 CYP11B2 NR3C2 REN
27 pseudohypoaldosteronism, type i, autosomal dominant 9.8 NR3C2 REN
28 hypertensive heart disease 9.8 AGT AGTR1 CYP11B2 NR3C2
29 chronic kidney failure 9.8 AGT AGTR1 REN
30 hypokalemia 9.7 HSD11B2 NR3C2 REN
31 cell type benign neoplasm 9.6 CHGA CYP11B2 REN
32 pseudohyperkalemia, familial, 2, due to red cell leak 9.6 CYP11B2 NR3C2 REN WNK1 WNK4
33 adrenal cortex disease 9.5 CYP11B2 HSD11B2 NR3C2 REN
34 adrenal gland disease 9.5 CYP11B2 HSD11B2 NR3C2 REN
35 liddle syndrome 9.5 CYP11B2 HSD11B2 NR3C2 REN
36 pre-eclampsia 9.5 AGT AGTR1 HSD11B2 NPPA REN
37 anuria 9.4 AGT AGTR1 HSD11B2 NR3C2 REN
38 dilated cardiomyopathy 9.4 AGT AGTR1 CYP11B2 NPPA REN
39 blood group, i system 9.4
40 hypertension and brachydactyly syndrome 9.4
41 nephrolithiasis, calcium oxalate 9.4
42 frontometaphyseal dysplasia 1 9.4
43 brachydactyly 9.4
44 aging 9.4
45 diabetes mellitus 9.4
46 protein-energy malnutrition 9.4
47 ischemia 9.4
48 neurogenic hypertension 9.4
49 endotheliitis 9.4
50 hyperaldosteronism, familial, type i 9.3 AGT CYP11B2 HSD11B2 NR3C2 REN

Graphical network of the top 20 diseases related to Familial Hypertension:



Diseases related to Familial Hypertension

Symptoms & Phenotypes for Familial Hypertension

GenomeRNAi Phenotypes related to Familial Hypertension according to GeneCards Suite gene sharing:

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 PDE3A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.7 AGTR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.7 CHGA NR3C2 PDE3A AGTR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 AGTR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.7 CHGA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.7 CHGA NR3C2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 AGTR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.7 CHGA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.7 NR3C2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.7 NR3C2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.7 AGTR1 NR3C2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.7 NR3C2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.7 CHGA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.7 AGTR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.7 AGTR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.7 CHGA NR3C2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.7 AGTR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.7 NR3C2
19 Increased cell death HMECs cells GR00103-A-0 9.61 CAND1 COPS8 CUL3 KLHL3 NR3C2 RBX1

MGI Mouse Phenotypes related to Familial Hypertension:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 AGT AGTR1 BMPR2 CHGA CUL3 CYP11B2
2 growth/size/body region MP:0005378 10.15 DRD1 NR3C2 REN UBE2M WNK1 AGT
3 homeostasis/metabolism MP:0005376 10.1 NPPA NR3C2 REN WNK1 WNK4 AGT
4 hematopoietic system MP:0005397 10.02 AGTR1 BMPR2 COPS8 CYP11B2 DRD1 KLHL3
5 mortality/aging MP:0010768 9.93 AGT AGTR1 BMPR2 CHGA COPS8 CUL3
6 muscle MP:0005369 9.61 AGT BMPR2 CUL3 DRD1 HSD11B2 NPPA
7 renal/urinary system MP:0005367 9.36 AGT AGTR1 BMPR2 CHGA CYP11B2 HSD11B2

Drugs & Therapeutics for Familial Hypertension

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Testing of Monogenic Hypertension in Chinese Population Recruiting NCT03012295

Search NIH Clinical Center for Familial Hypertension

Genetic Tests for Familial Hypertension

Genetic tests related to Familial Hypertension:

# Genetic test Affiliating Genes
1 Genetic Hypertension 28

Anatomical Context for Familial Hypertension

MalaCards organs/tissues related to Familial Hypertension:

38
Testes, Kidney

Publications for Familial Hypertension

Articles related to Familial Hypertension:

(show all 23)
# Title Authors Year
1
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290 )
2016
2
Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia. ( 26286618 )
2015
3
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). ( 23336180 )
2013
4
The polymorphism of angiotensin-receptor gene A1166C in familial hypertension and its distribution in the Han Yellow race of China. ( 24145933 )
2013
5
Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations. ( 21553326 )
2011
6
The metabolic syndrome and risk of myocardial infarction in familial hypertension (hypertension heredity in MalmAP evaluation study). ( 19050451 )
2009
7
The effects of exercise on haemodynamic function in relation to the familial hypertension risk model. ( 16496017 )
2006
8
Spironolactone responsive familial hypertension. A potentially high prevalence of mineralocorticoid disease in Oman. ( 12682699 )
2003
9
Influence of familial hypertension on blood pressure, serum cholesterol, high density lipoprotein cholesterol during second and third decade of life in Punjabi population. ( 15255633 )
2003
10
High urinary excretion of uric acid combined with high excretion of calcium links kidney stone disease to familial hypertension. ( 11812875 )
2002
11
Effect of familial hypertension on glomerular hemodynamics and tubulo-glomerular feedback after uninephrectomy. ( 11243302 )
2001
12
Abnormalities in insulin sensitivity, vascular resistance and erythrocyte cation transport are independent genetic traits in familial hypertension. ( 10451037 )
1999
13
Familial hypertension, insulin, sympathetic activity, and blood pressure elevation. ( 9674644 )
1998
14
Association of M235T variant of the angiotensinogen gene with familial hypertension of early onset. ( 7478115 )
1995
15
Familial hypertension in Morgagni's De Sedibus et Causis Morborum per Anatomen Indagatis. ( 7847481 )
1994
16
Familial hypertension and albuminuria in normotensive type I diabetic patients. ( 8282370 )
1994
17
Cross-sectional analysis of Met235-->Thr variant of angiotensinogen gene in severe, familial hypertension. ( 8267622 )
1993
18
Influence of familial hypertension of the donor on the blood pressure and antihypertensive therapy of kidney graft recipients. ( 7050749 )
1982
19
Influence of familial hypertension on blood pressure during adolescence. ( 6975038 )
1981
20
Familial hypertension and hormonal profile, renal haemodynamics and body fluids of young normotensive subjects. ( 282088 )
1978
21
Familial hypertension. ( 1185030 )
1975
22
Chronic hypertension following pre-eclamptic toxaemia: the influence of familial hypertension on its causation. ( 13564280 )
1958
23
Chronic hypertension following pre-eclamptic toxaemia; the influence of familial hypertension on its causation. ( 13367916 )
1956

Variations for Familial Hypertension

Expression for Familial Hypertension

Search GEO for disease gene expression data for Familial Hypertension.

Pathways for Familial Hypertension

Pathways related to Familial Hypertension according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.07 AGT AGTR1 PDE3A REN
2
Show member pathways
10.92 AGT AGTR1 CYP11B2 NR3C2 REN

GO Terms for Familial Hypertension

Cellular components related to Familial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 AGT BMPR2 CAND1 COPS8 CUL3 GRK4
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.33 CUL3 KLHL3 RBX1
3 cullin-RING ubiquitin ligase complex GO:0031461 8.8 CAND1 CUL3 RBX1

Biological processes related to Familial Hypertension according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.94 DRD1 HSD11B2 PDE3A REN
2 negative regulation of cell growth GO:0030308 9.82 AGT BMPR2 NPPA
3 kidney development GO:0001822 9.8 AGT AGTR1 REN
4 female pregnancy GO:0007565 9.78 AGT HSD11B2 NPPA
5 regulation of blood vessel size GO:0050880 9.64 AGT NPPA
6 positive regulation of cellular protein metabolic process GO:0032270 9.63 AGT AGTR1
7 post-translational protein modification GO:0043687 9.63 CAND1 COPS8 CUL3 KLHL3 RBX1 UBE2M
8 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.62 AGT AGTR1
9 cell growth involved in cardiac muscle cell development GO:0061049 9.61 AGT NPPA
10 low-density lipoprotein particle remodeling GO:0034374 9.6 AGT AGTR1
11 protein neddylation GO:0045116 9.59 RBX1 UBE2M
12 angiotensin maturation GO:0002003 9.58 AGT REN
13 positive regulation of cardiac muscle contraction GO:0060452 9.58 CHGA NPPA
14 positive regulation of cholesterol esterification GO:0010873 9.57 AGT AGTR1
15 negative regulation of systemic arterial blood pressure GO:0003085 9.56 BMPR2 NPPA
16 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.55 AGT AGTR1
17 SCF complex assembly GO:0010265 9.54 CAND1 RBX1
18 ion homeostasis GO:0050801 9.52 KLHL3 WNK4
19 positive regulation of NAD(P)H oxidase activity GO:0033864 9.51 AGT AGTR1
20 negative regulation of pancreatic juice secretion GO:0090188 9.49 WNK1 WNK4
21 renal sodium ion absorption GO:0070294 9.48 KLHL3 WNK4
22 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGT AGTR1
23 regulation of blood volume by renin-angiotensin GO:0002016 9.43 AGT REN
24 regulation of renal sodium excretion GO:0035813 9.4 AGT AGTR1
25 regulation of blood volume by renal aldosterone GO:0002017 9.37 CYP11B2 HSD11B2
26 distal tubule morphogenesis GO:0072156 9.32 KLHL3 WNK4
27 regulation of cellular process GO:0050794 9.26 WNK1 WNK4
28 regulation of blood pressure GO:0008217 9.26 AGT CHGA NPPA REN
29 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 AGT AGTR1 REN
30 protein ubiquitination GO:0016567 10.02 CAND1 CUL3 KLHL3 RBX1 UBE2M

Molecular functions related to Familial Hypertension according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel inhibitor activity GO:0019869 8.96 WNK1 WNK4
2 NEDD8 transferase activity GO:0019788 8.62 RBX1 UBE2M

Sources for Familial Hypertension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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