MCID: FML187
MIFTS: 31

Familial Hypertension

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

Aliases & Classifications for Familial Hypertension

MalaCards integrated aliases for Familial Hypertension:

Name: Familial Hypertension 53
Genetic Hypertension 73

Classifications:



External Ids:

UMLS 73 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 KLHL3 (Kelch Like Family Member 3), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Diuretics Pathway, Pharmacodynamics. Affiliated tissues include testes and kidney, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

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 all 30)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type iia 32.6 CUL3 KLHL3
2 pseudohypoaldosteronism, type iie 32.1 CUL3 KLHL3
3 pseudohypoaldosteronism 28.7 CUL3 KLHL3 WNK1 WNK4
4 arthrogryposis, distal, type 3 10.4 WNK1 WNK4
5 posterior urethral valves 10.4 AGT AGTR1
6 meningococcal infection 10.4 AGT AGTR1
7 anuria 10.4 AGT AGTR1
8 aortic coarctation 10.3 AGT AGTR1
9 diastolic heart failure 10.3 AGT AGTR1
10 malignant hypertension 10.3 AGT AGTR1
11 fibromuscular dysplasia 10.3 AGT AGTR1
12 pseudohyperkalemia, familial, 2, due to red cell leak 10.3 WNK1 WNK4
13 renal tubular dysgenesis 10.2 AGT AGTR1
14 ischemic optic neuropathy 10.2 AGT AGTR1
15 hypertensive heart disease 10.1 AGT AGTR1
16 renal tubular transport disease 10.1 KLHL3 WNK1 WNK4
17 microvascular complications of diabetes 3 10.1 AGT AGTR1
18 oligohydramnios 10.0 AGT AGTR1
19 xeroderma pigmentosum, complementation group e 10.0 COPS8 RBX1
20 mitral valve disease 9.9 AGT AGTR1
21 vesicoureteral reflux 1 9.7 AGT AGTR1
22 hypertension, essential 9.5 AGT AGTR1 WNK1 WNK4
23 hypertension and brachydactyly syndrome 9.4
24 nephrolithiasis, calcium oxalate 9.4
25 myocardial infarction 9.4
26 brachydactyly 9.4
27 kidney disease 9.4
28 autosomal dominant polycystic kidney disease 9.4
29 type i 9.4
30 polycystic kidney disease 9.4

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.23 CAND1 COPS8 CUL3 KLHL3 RBX1 UBE2M

MGI Mouse Phenotypes related to Familial Hypertension:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 AGT AGTR1 CUL3 KLHL3 UBE2M WNK1

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

Anatomical Context for Familial Hypertension

MalaCards organs/tissues related to Familial Hypertension:

41
Testes, Kidney

Publications for Familial Hypertension

Articles related to Familial Hypertension:

(show all 24)
# 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
The polymorphism of angiotensin-receptor gene A1166C in familial hypertension and its distribution in the Han Yellow race of China. ( 24145933 )
2013
4
An inducible transgenic mouse model for familial hypertension with hyperkalaemia (Gordon's syndrome or pseudohypoaldosteronism type II). ( 23336180 )
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
Familial hypertensive intracerebral hemorrhage and autosomal dominant polycystic kidney disease. ( 15925788 )
2005
9
Spironolactone responsive familial hypertension. A potentially high prevalence of mineralocorticoid disease in Oman. ( 12682699 )
2003
10
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
11
High urinary excretion of uric acid combined with high excretion of calcium links kidney stone disease to familial hypertension. ( 11812875 )
2002
12
Effect of familial hypertension on glomerular hemodynamics and tubulo-glomerular feedback after uninephrectomy. ( 11243302 )
2001
13
Abnormalities in insulin sensitivity, vascular resistance and erythrocyte cation transport are independent genetic traits in familial hypertension. ( 10451037 )
1999
14
Familial hypertension, insulin, sympathetic activity, and blood pressure elevation. ( 9674644 )
1998
15
Association of M235T variant of the angiotensinogen gene with familial hypertension of early onset. ( 7478115 )
1995
16
Familial hypertension and albuminuria in normotensive type I diabetic patients. ( 8282370 )
1994
17
Familial hypertension in Morgagni's De Sedibus et Causis Morborum per Anatomen Indagatis. ( 7847481 )
1994
18
Cross-sectional analysis of Met235-->Thr variant of angiotensinogen gene in severe, familial hypertension. ( 8267622 )
1993
19
Influence of familial hypertension of the donor on the blood pressure and antihypertensive therapy of kidney graft recipients. ( 7050749 )
1982
20
Influence of familial hypertension on blood pressure during adolescence. ( 6975038 )
1981
21
Familial hypertension and hormonal profile, renal haemodynamics and body fluids of young normotensive subjects. ( 282088 )
1978
22
Familial hypertension. ( 1185030 )
1975
23
Chronic hypertension following pre-eclamptic toxaemia: the influence of familial hypertension on its causation. ( 13564280 )
1958
24
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 11.27 CUL3 RBX1 UBE2M
2 10.62 WNK1 WNK4
3 10.61 AGT AGTR1 PDE3A

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 9.91 AGT CAND1 COPS8 CUL3 KLHL3 RBX1
2 cytosol GO:0005829 9.65 AGT CAND1 COPS8 CUL3 KLHL3 PDE3A
3 Cul3-RING ubiquitin ligase complex GO:0031463 9.33 CUL3 KLHL3 RBX1
4 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 23)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.83 CAND1 CUL3 KLHL3 RBX1 UBE2M
2 protein monoubiquitination GO:0006513 9.61 CUL3 RBX1
3 positive regulation of reactive oxygen species metabolic process GO:2000379 9.61 AGT AGTR1
4 regulation of vasoconstriction GO:0019229 9.6 AGT AGTR1
5 nucleotide-excision repair, DNA damage recognition GO:0000715 9.59 COPS8 RBX1
6 positive regulation of cellular protein metabolic process GO:0032270 9.58 AGT AGTR1
7 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.58 AGT AGTR1
8 regulation of cellular process GO:0050794 9.57 WNK1 WNK4
9 protein neddylation GO:0045116 9.56 RBX1 UBE2M
10 low-density lipoprotein particle remodeling GO:0034374 9.55 AGT AGTR1
11 ion homeostasis GO:0050801 9.54 KLHL3 WNK4
12 positive regulation of cholesterol esterification GO:0010873 9.52 AGT AGTR1
13 positive regulation of ion transmembrane transporter activity GO:0032414 9.51 WNK1 WNK4
14 positive regulation of NAD(P)H oxidase activity GO:0033864 9.49 AGT AGTR1
15 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.48 AGT AGTR1
16 SCF complex assembly GO:0010265 9.46 CAND1 RBX1
17 negative regulation of pancreatic juice secretion GO:0090188 9.4 WNK1 WNK4
18 renal sodium ion absorption GO:0070294 9.37 KLHL3 WNK4
19 regulation of renal sodium excretion GO:0035813 9.32 AGT AGTR1
20 renin-angiotensin regulation of aldosterone production GO:0002018 9.26 AGT AGTR1
21 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.16 AGT AGTR1
22 post-translational protein modification GO:0043687 9.1 CAND1 COPS8 CUL3 KLHL3 RBX1 UBE2M
23 distal tubule morphogenesis GO:0072156 8.96 KLHL3 WNK4

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase activity GO:0061630 9.5 CUL3 RBX1 UBE2M
2 ubiquitin-protein transferase activity GO:0004842 9.46 CUL3 KLHL3 RBX1 UBE2M
3 chloride channel inhibitor activity GO:0019869 8.96 WNK1 WNK4
4 NEDD8 transferase activity GO:0019788 8.62 RBX1 UBE2M
5 protein binding GO:0005515 10 AGT AGTR1 CAND1 COPS8 CUL3 KLHL3

Sources for Familial Hypertension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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