MCID: HRD209
MIFTS: 31

Hereditary Angioedema with Normal C1inh

Categories: Bone diseases, Immune diseases, Rare diseases

Aliases & Classifications for Hereditary Angioedema with Normal C1inh

MalaCards integrated aliases for Hereditary Angioedema with Normal C1inh:

Name: Hereditary Angioedema with Normal C1inh 58 6
Hereditary Angioneurotic Edema with Normal C1 Inhibitor 58
Hereditary Angioneurotic Edema with Normal C1inh 58
Hereditary Angioedema with Normal C1 Inhibitor 58
Hae with Normal C1 Inhibitor 58
Hae with Normal C1inh 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare allergic disease


External Ids:

Orphanet 58 ORPHA528647

Summaries for Hereditary Angioedema with Normal C1inh

MalaCards based summary : Hereditary Angioedema with Normal C1inh, also known as hereditary angioneurotic edema with normal c1 inhibitor, is related to c1 inhibitor deficiency and hereditary angioedema. An important gene associated with Hereditary Angioedema with Normal C1inh is ACE (Angiotensin I Converting Enzyme), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are cardiovascular system and hematopoietic system

Related Diseases for Hereditary Angioedema with Normal C1inh

Diseases in the Hereditary Angioedema with Normal C1inh family:

Plg-Related Hereditary Angioedema with Normal C1inh Angpt1-Related Hereditary Angioedema with Normal C1inh

Diseases related to Hereditary Angioedema with Normal C1inh via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 c1 inhibitor deficiency 30.6 KNG1 C1S BDKRB2 ACE
2 hereditary angioedema 29.5 TLR4 SERPINA1 PLG PLAT MPO KRT1
3 angioedema 28.6 SERPINA1 PLG PLAT KNG1 DPP4 CPN1
4 plg-related hereditary angioedema with normal c1inh 12.7
5 angpt1-related hereditary angioedema with normal c1inh 12.7
6 angioedema, hereditary, type iii 11.7
7 urticaria 10.4
8 fibromuscular dysplasia 10.4 SERPINA1 ACE
9 constrictive pericarditis 10.4 SERPINA1 ACE
10 multiple cranial nerve palsy 10.4 MPO ACE
11 anterolateral myocardial infarction 10.3 PLAT ACE
12 impotence 10.3 KNG1 KLK3 ACE
13 anca-associated vasculitis 10.3 SERPINA1 MPO
14 diffuse scleroderma 10.3 KNG1 ACE
15 anaerobic pneumonia 10.3 SERPINA1 MPO
16 idiopathic edema 10.3 MPO ACE
17 acute anterolateral myocardial infarction 10.3 PLG ACE
18 complement component 4, partial deficiency of 10.2
19 cholesterol embolism 10.2 PLG ACE
20 hydrops, lactic acidosis, and sideroblastic anemia 10.2 MPO KNG1 C1S
21 angina pectoris 10.2 PLAT KNG1 ACE
22 cardiac rupture 10.2 PLAT ELANE
23 acute mountain sickness 10.2 BDKRB2 ACE
24 androgen insensitivity, partial 10.2
25 scleral disease 10.1 MPO ACE
26 anterior cerebral artery infarction 10.1 PLG PLAT
27 viral laryngitis 10.1 SERPINA1 PROC
28 chronic pyelonephritis 10.1 TLR4 CPN1 ACE
29 adult respiratory distress syndrome 10.1 MPO ELANE ACE
30 alpha-1-antitrypsin deficiency 10.1 SERPINA1 MPO ELANE
31 brain edema 10.1 PLAT KNG1 BDKRB2
32 basilar artery occlusion 10.1 PLG PLAT
33 basal ganglia cerebrovascular disease 10.1 PLG PLAT
34 acute cor pulmonale 10.1 PLG PLAT
35 acute pulmonary heart disease 10.1 PLG PLAT
36 marantic endocarditis 10.1 PLG PLAT
37 thoracic outlet syndrome 10.1 PLG PLAT
38 vertebral artery occlusion 10.1 PLG PLAT
39 peripheral vascular disease 10.0 PLAT KNG1 ACE
40 brain stem infarction 10.0 PLG PLAT
41 inferior myocardial infarction 10.0 PLG PLAT
42 cerebral falx meningioma 10.0 PLG PLAT
43 aortic atherosclerosis 10.0 TLR4 MPO ACE
44 hemorrhagic disease 10.0 SERPINA1 PLAT MPO
45 conversion disorder 10.0 PLG PLAT
46 intracranial embolism 10.0 PLG PLAT ACE
47 mycobacterium abscessus 10.0 TLR2 SERPINA1
48 cardiac tamponade 10.0 PLG PLAT ACE
49 facial nerve disease 10.0 PLG PLAT ACE
50 coronary thrombosis 10.0 PLG PLAT ACE

Graphical network of the top 20 diseases related to Hereditary Angioedema with Normal C1inh:



Diseases related to Hereditary Angioedema with Normal C1inh

Symptoms & Phenotypes for Hereditary Angioedema with Normal C1inh

MGI Mouse Phenotypes related to Hereditary Angioedema with Normal C1inh:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ACE BDKRB2 DPP4 KLK3 KRT1 MPO
2 hematopoietic system MP:0005397 10 ACE BDKRB2 DPP4 ELANE KRT1 MPO
3 homeostasis/metabolism MP:0005376 9.93 ACE BDKRB2 DPP4 ELANE KNG1 KRT1
4 immune system MP:0005387 9.73 ACE BDKRB2 CPN1 DPP4 ELANE KRT1
5 mortality/aging MP:0010768 9.4 ACE BDKRB2 DPP4 ELANE KRT1 MPO

Drugs & Therapeutics for Hereditary Angioedema with Normal C1inh

Drugs for Hereditary Angioedema with Normal C1inh (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled, Phase 2a Study to Assess the Clinical Efficacy of ISIS 721744, a Second-Generation Ligand-Conjugated Antisense Inhibitor of Prekallikrein, in Patients With Hereditary Angioedema Recruiting NCT04030598 Phase 2 IONIS-PKK-LRx;Placebo

Search NIH Clinical Center for Hereditary Angioedema with Normal C1inh

Genetic Tests for Hereditary Angioedema with Normal C1inh

Anatomical Context for Hereditary Angioedema with Normal C1inh

MalaCards organs/tissues related to Hereditary Angioedema with Normal C1inh:

40
Bone

Publications for Hereditary Angioedema with Normal C1inh

Articles related to Hereditary Angioedema with Normal C1inh:

# Title Authors PMID Year
1
[Diagnosis of hereditary angioedema]. 61
25511656 2015
2
[Hereditary angioedema in childhood. Diagnosis and therapeutic challenges]. 61
25511651 2015

Variations for Hereditary Angioedema with Normal C1inh

ClinVar genetic disease variations for Hereditary Angioedema with Normal C1inh:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PROC NM_000312.4(PROC):c.245T>C (p.Phe82Ser)SNV not provided 827603 2:128180500-128180500 2:127422924-127422924
2 DPP4 NM_001935.4(DPP4):c.571G>T (p.Glu191Ter)SNV not provided 827595 2:162894854-162894854 2:162038344-162038344
3 KNG1 NM_000893.4(KNG1):c.-85T>ASNV not provided 827589 3:186435247-186435247 3:186717458-186717458
4 KNG1 NM_000893.4(KNG1):c.421G>A (p.Asp141Asn)SNV not provided 827590 3:186442906-186442906 3:186725117-186725117
5 TLR2 NM_001318789.2(TLR2):c.582G>C (p.Leu194Phe)SNV not provided 827600 4:154624641-154624641 4:153703489-153703489
6 PLG NM_000301.5(PLG):c.2183T>A (p.Val728Glu)SNV not provided 827591 6:161173204-161173204 6:160752172-160752172
7 PLAT NM_000930.5(PLAT):c.1323_1325delinsTAT (p.Trp441_Thr442delinsCysMet)indel not provided 827598 8:42037482-42037484 8:42179964-42179966
8 TLR4 NM_138554.5(TLR4):c.2474G>A (p.Gly825Glu)SNV not provided 827601 9:120476880-120476880 9:117714602-117714602
9 CPN1 NM_001308.3(CPN1):c.1219G>A (p.Glu407Lys)SNV not provided 827594 10:101808526-101808526 10:100048769-100048769
10 KRT1 NM_006121.4(KRT1):c.*197T>GSNV not provided 827602 12:53068780-53068780 12:52674996-52674996
11 C1S NM_001734.5(C1S):c.34T>C (p.Trp12Arg)SNV not provided 827599 12:7169807-7169807 12:7062503-7062503
12 SERPINA1 NM_000295.5(SERPINA1):c.1070T>C (p.Val357Ala)SNV not provided 827597 14:94844973-94844973 14:94378636-94378636
13 SERPINA1 NM_000295.5(SERPINA1):c.349C>T (p.His117Tyr)SNV not provided 827596 14:94849226-94849226 14:94382889-94382889
14 BDKRB2 NM_000623.3(BDKRB2):c.*21T>ASNV not provided 827588 14:96707862-96707862 14:96241525-96241525
15 MPO NM_000250.2(MPO):c.-56C>TSNV not provided 827605 17:56358175-56358175 17:58280814-58280814
16 ACE NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs)indel not provided 827586 17:61560520-61560522 17:63483159-63483161
17 ACE NM_000789.4(ACE):c.1744C>A (p.Gln582Lys)SNV not provided 827587 17:61561725-61561725 17:63484364-63484364
18 KLK3 NM_001648.2(KLK3):c.116dup (p.Val40fs)duplication not provided 827592 19:51359564-51359565 19:50856308-50856309
19 KLK3 NM_001648.2(KLK3):c.*4C>TSNV not provided 827593 19:51363387-51363387 19:50860131-50860131
20 ELANE NM_001972.4(ELANE):c.*2A>GSNV not provided 827604 19:856166-856166 19:856166-856166

Expression for Hereditary Angioedema with Normal C1inh

Search GEO for disease gene expression data for Hereditary Angioedema with Normal C1inh.

Pathways for Hereditary Angioedema with Normal C1inh

GO Terms for Hereditary Angioedema with Normal C1inh

Cellular components related to Hereditary Angioedema with Normal C1inh according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 SERPINA1 PLG PLAT MPO KRT1 KNG1
2 cell surface GO:0009986 9.88 TLR4 TLR2 PLG PLAT ELANE DPP4
3 extracellular space GO:0005615 9.73 SERPINA1 PROC PLG PLAT MPO KRT1
4 blood microparticle GO:0072562 9.67 PLG KRT1 KNG1 C1S
5 collagen-containing extracellular matrix GO:0062023 9.63 SERPINA1 PLG PLAT KRT1 KNG1 ELANE
6 secretory granule GO:0030141 9.62 PLAT MPO KLK3 ELANE
7 platelet alpha granule lumen GO:0031093 9.61 SERPINA1 PLG KNG1
8 extracellular region GO:0005576 9.44 SERPINA1 PROC PLG PLAT MPO KRT1

Biological processes related to Hereditary Angioedema with Normal C1inh according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.89 TLR2 SERPINA1 MPO KRT1 ELANE
2 response to lipopolysaccharide GO:0032496 9.78 TLR4 TLR2 MPO ELANE
3 platelet degranulation GO:0002576 9.75 SERPINA1 PLG KNG1
4 cellular protein metabolic process GO:0044267 9.65 SERPINA1 PROC PLG KNG1 KLK3
5 positive regulation of chemokine production GO:0032722 9.58 TLR4 TLR2
6 positive regulation of interleukin-8 secretion GO:2000484 9.57 TLR4 TLR2
7 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.56 TLR4 TLR2
8 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.55 TLR4 ELANE
9 blood coagulation GO:0007596 9.55 SERPINA1 PROC PLG PLAT KNG1
10 negative regulation of blood coagulation GO:0030195 9.54 PROC KNG1
11 I-kappaB phosphorylation GO:0007252 9.52 TLR4 TLR2
12 cellular response to lipoteichoic acid GO:0071223 9.51 TLR4 TLR2
13 fibrinolysis GO:0042730 9.5 PLG PLAT KRT1
14 trans-synaptic signaling by BDNF, modulating synaptic transmission GO:0099183 9.46 PLG PLAT
15 response to yeast GO:0001878 9.43 MPO ELANE
16 positive regulation of matrix metallopeptidase secretion GO:1904466 9.4 TLR4 TLR2
17 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.37 TLR4 TLR2
18 proteolysis GO:0006508 9.28 PROC PLG PLAT KLK3 ELANE DPP4
19 hemostasis GO:0007599 9.26 SERPINA1 PROC PLG KNG1

Molecular functions related to Hereditary Angioedema with Normal C1inh according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10 TLR4 TLR2 PROC PLG PLAT KLK3
2 peptidase activity GO:0008233 9.81 PROC PLG PLAT KLK3 ELANE DPP4
3 signaling receptor binding GO:0005102 9.8 TLR4 PLG PLAT KNG1 DPP4
4 protease binding GO:0002020 9.67 SERPINA1 ELANE DPP4 BDKRB2
5 endopeptidase activity GO:0004175 9.62 PLG KLK3 ELANE ACE
6 serine-type endopeptidase activity GO:0004252 9.5 PROC PLG PLAT KLK3 ELANE DPP4
7 NAD+ nucleotidase, cyclic ADP-ribose generating GO:0061809 9.49 TLR4 TLR2
8 NAD(P)+ nucleosidase activity GO:0050135 9.48 TLR4 TLR2
9 dipeptidyl-peptidase activity GO:0008239 9.46 DPP4 ACE
10 lipopolysaccharide receptor activity GO:0001875 9.43 TLR4 TLR2
11 serine-type peptidase activity GO:0008236 9.17 PROC PLG PLAT KLK3 ELANE DPP4

Sources for Hereditary Angioedema with Normal C1inh

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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