CHAPLE
MCID: CMP080
MIFTS: 38

Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy (CHAPLE)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Complement Hyperactivation, Angiopathic Thrombosis, and...

MalaCards integrated aliases for Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy:

Name: Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 56 73
Chaple 56 73
Complement Hyperactivation-Angiopathic Thrombosis-Protein-Losing Enteropathy Syndrome 58
Thrombosis of Blood Vessel 71
Cd55 Deficiency 58
Chaple Syndrome 58
Thrombosis 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present
recurrent thrombotic events in some patients


HPO:

31
complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Complement Hyperactivation, Angiopathic Thrombosis, and...

OMIM : 56 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017). (226300)

MalaCards based summary : Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy, also known as chaple, is related to blood group, cromer system and hemolytic uremic syndrome, atypical 1. An important gene associated with Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy is CD55 (CD55 Molecule (Cromer Blood Group)). The drugs Alprostadil and Nicorandil have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes, and related phenotypes are thrombocytosis and hepatomegaly

UniProtKB/Swiss-Prot : 73 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy: An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a.

Related Diseases for Complement Hyperactivation, Angiopathic Thrombosis, and...

Diseases related to Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 blood group, cromer system 11.3
2 hemolytic uremic syndrome, atypical 1 10.2
3 protein-losing enteropathy 10.2
4 hemolytic-uremic syndrome 10.2
5 hemoglobinuria 10.2
6 lymphangiectasis 10.2
7 primary intestinal lymphangiectasia 10.2
8 atherosclerosis susceptibility 9.9
9 thrombosis 9.9
10 gastrointestinal system disease 9.9

Graphical network of the top 20 diseases related to Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy:



Diseases related to Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy

Symptoms & Phenotypes for Complement Hyperactivation, Angiopathic Thrombosis, and...

Human phenotypes related to Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 31 very rare (1%) HP:0001894
2 hepatomegaly 31 HP:0002240
3 malabsorption 31 HP:0002024
4 vomiting 31 HP:0002013
5 ascites 31 HP:0001541
6 abdominal pain 31 HP:0002027
7 growth delay 31 HP:0001510
8 pulmonary embolism 31 HP:0002204
9 intestinal obstruction 31 HP:0005214
10 hypoalbuminemia 31 HP:0003073
11 recurrent infections 31 HP:0002719
12 pneumonia 31 HP:0002090
13 diarrhea 31 HP:0002014
14 abnormal intestine morphology 31 HP:0002242
15 hypoproteinemia 31 HP:0003075
16 budd-chiari syndrome 31 HP:0002639
17 iron deficiency anemia 31 HP:0001891
18 generalized edema 31 HP:0007430
19 clubbing of fingers 31 HP:0100759
20 hepatic vein thrombosis 31 HP:0030243
21 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hepatic vein thrombosis
budd-chiari syndrome (in some patients)

Hematology:
anemia
thrombocytosis (in some patients)

Cardiovascular Vascular:
pulmonary embolism
hepatic vein thrombosis
cerebrovascular thrombosis
sinus vein thrombosis
pulmonary artery thrombosis
more
Respiratory Lung:
pneumonia

Skin Nails Hair Skin:
generalized edema
edema of extremities
edema of face

Growth Other:
growth retardation

Endocrine Features:
hypothyroidism, subclinical

Respiratory:
recurrent infections (associated with hypogammaglobulinemia)

Abdomen Gastrointestinal:
malabsorption
vomiting
intestinal obstruction
diarrhea
mucosal ulcers
more
Abdomen:
abdominal pain
ascites (in some patients)

Laboratory Abnormalities:
hypoalbuminemia
hypoproteinemia
micronutrient deficiencies

Head And Neck Face:
facial edema

Skeletal Hands:
clubbing of fingers

Immunology:
hypogammaglobulinemia

Cardiovascular Heart:
atrial thrombosis
ventricular thrombosis

Clinical features from OMIM:

226300

Drugs & Therapeutics for Complement Hyperactivation, Angiopathic Thrombosis, and...

Drugs for Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 824)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
2
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
3
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
4
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
5
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
6
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
7
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
8
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
9
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
10
Edoxaban Approved Phase 4 480449-70-5
11
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
12
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
13
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
14
Nadroparin Approved, Investigational Phase 4
15
Sodium citrate Approved, Investigational Phase 4 68-04-2
16
Pancrelipase Approved, Investigational Phase 4 53608-75-6
17
Cisplatin Approved Phase 4 15663-27-1 2767 441203 84093
18
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
19
Liraglutide Approved Phase 4 204656-20-2 44147092
20 Orange Approved Phase 4
21
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
22 Taurolidine Approved, Investigational Phase 4 19388-87-5
23
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
24
Glimepiride Approved Phase 4 93479-97-1 3476
25 Nutmeg Approved Phase 4
26
Fenofibrate Approved Phase 4 49562-28-9 3339
27
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
28
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
29
Drospirenone Approved Phase 4 67392-87-4 68873
30
Ezetimibe Approved Phase 4 163222-33-1 150311
31
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
32 fluindione Approved, Investigational Phase 4 957-56-2
33
Pravastatin Approved Phase 4 81093-37-0 54687
34
Ranibizumab Approved Phase 4 347396-82-1 459903
35
Phenindione Approved, Investigational Phase 4 83-12-5 4760
36
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
37
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
38
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
39
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
40
acetic acid Approved Phase 4 64-19-7 176
41
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
42
Gliclazide Approved Phase 4 21187-98-4 3475
43
Canagliflozin Approved Phase 4 842133-18-0
44
Betrixaban Approved, Investigational Phase 4 330942-05-7
45
Propranolol Approved, Investigational Phase 4 525-66-6 4946
46
Dronedarone Approved Phase 4 141625-93-6, 141626-36-0 154087
47
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560 441411
48
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
49
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
50
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253

Interventional clinical trials:

(show top 50) (show all 3229)
# Name Status NCT ID Phase Drugs
1 Study of the OmniWave Endovascular System in Subjects With Lower and Upper Extremity Deep Vein Thrombosis - SONIC I Study Unknown status NCT00640731 Phase 4
2 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
3 Impact of a Biological Glue (Evicel®) on the Peri Operative Bleeding in Total Knee Prothesis Surgery Unknown status NCT00983112 Phase 4 Human Fibrinogen and human thrombin (Evicel);Sodium Chlorure (Physiological saline)
4 Rosuvastatin for Prevention of Deep Vein Thrombosis in Patients Undergoing Total Knee Replacement Arthroplasty: STOP DVT - A Prospective Randomized Controlled Trial Unknown status NCT01021488 Phase 4 Rosuvastatin 20mg/d for 14days;enoxaparin only
5 A Prospective Randomized Controlled Trial of Efficacy and Safety of Anticoagulant Therapy With Low Molecular Weight Heparin and Warfarin in Portal Vein Thrombosis of Liver Cirrhosis Unknown status NCT04173429 Phase 4 Low molecular weight heparin (LMWH), warfarin
6 A Zelen-design Randomized Controlled Trial of the Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis Unknown status NCT02398357 Phase 4 Nadroparin Calcium and Warfarin
7 Phase 4 Study of Postoperative Prostaglandin E1 in Head and Neck Microsurgery Unknown status NCT00733434 Phase 4 Prostaglandin E1
8 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis (TWISTER) Unknown status NCT01252420 Phase 4 Enoxaparin
9 Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis:A Zelen-design Multicenter Randomized Controlled Trial Unknown status NCT02630095 Phase 4 Nadroparin Calcium and Warfarin
10 Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users Undergoing Total Knee Replacement Arthroplasty: RE-STOP-DVT Study- A Prospective Randomized Controlled Trial Unknown status NCT01063426 Phase 4 High dose Atorvastatin+enoxaparin;Enoxaparin
11 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography Unknown status NCT02826200 Phase 4 Acenocoumarol
12 PPARGC1β And CNTN4 Genotype as a Pharmacogenetic Assay of Thrombosis and Bleeding Risks - a Cross-Over Controlled Trial of Aspirin in Individuals at Increased Cardiovascular Risk. Unknown status NCT02970604 Phase 4 Aspirin
13 RCT Research: the Treatment of Hepatic Carcinoma With Portal Vein Branch Tumor Thrombosis (Resection or Sorafenib) Unknown status NCT03178656 Phase 4 Sorafenib
14 Comparison of Ultra-low-dose Oral Versus Trans-dermal Hormone Therapy on Coagulation Activation and Metabolic Risk Factors for Cardiovascular Disease Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
15 Late Incomplete Stent Apposition Evaluation II: Vascular Effects Evaluation After Polimer and No-polimer Based Coronary Artery Drug Eluting Stent Ilmplantation. An IVUS Based Study Unknown status NCT01375855 Phase 4
16 Randomized-Double Blind Trial to Assess the Incidence and Clinical Relevance of Heparin-Induced Thrombocytopenia (HIT) Antibodies in Trauma Patients Treated With Unfractionated or Low-Molecular Weight Heparin, the HIT-TRAP Trial Unknown status NCT00196417 Phase 4 Standard heparin (UFH) versus certoparin (LMWH)
17 Residual Vein Thrombosis Establishes the Optimal Duration of Low Molecular Weight Heparins in Cancer Patients With Deep Vein Thrombosis of the Lower Limbs Unknown status NCT00450645 Phase 4 low molecular weight heparin
18 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
19 Clinical Evaluation of the Momo Cobalt-Chromium Coronary Stent System for the Treatment of Patients With Coronary Artery Disease Unknown status NCT01535625 Phase 4
20 Efficacy and Safety of the YUKON Drug Eluting Stent in Diffuse Coronary Artery Disease Unknown status NCT01418794 Phase 4
21 a Comparative Study of Aspirin Either at Fixed Dose or at a Dose Titrated by Platlet Function Analyzer(PFA-100) vs Placebo in Primary Prevention of Vascular Access for Hemodialysis Unknown status NCT02055131 Phase 4 aspirin
22 RANDOMIZED TRIAL OF ZOTAROLIMUS- AND EVEROLIMUS-ELUTING STENTS REGARDING STENT COVERAGE ASSESSED BY OCT Unknown status NCT01230723 Phase 4
23 Efficacy Study of Nicorandil on Neointima After Coronary Drug-eluting Stent Implantation in Patients With Diabetic Mellitus Unknown status NCT02328521 Phase 4 Nicorandil;nicorandil placebo
24 Prolonged Hemodialysis Catheter Survival With Copolymer Coating and Rt-PA - PROCOPrt-PA Trial Unknown status NCT01670474 Phase 4 rt-PA (2mg/2mL) actilysis;rt-PA
25 The Changes of Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives With Antiandrogenic Activity, Correction by Antioxidants Unknown status NCT02027337 Phase 4 20 mcg ethinylestradiol /3 mg drospirenone;20 mcg ethinylestradiol/3 mg drospirenone and Selmevit;30 mcg ethinylestradiol/3 mg drospirenone;30 mcg ethinylestradiol/3 mg drospirenone and Selmevit;35 mcg ethinylestradiol/2 mg cyproterone;35 mcg ethinylestradiol/2 mg cyproterone and Selmevit
26 Prevención de Parto Prematuro en Gemelares: Ensayo Aleatorio Con Progesterona Vaginal. Unknown status NCT01927029 Phase 4 Progesterone;Placebo
27 A Clinical Evaluation of Dual Antiplatelet Therapy Duration Following Treatment With the Medtronic Endeavor Zotarolimus-eluting Coronary Stent Unknown status NCT00963781 Phase 4 Reduced duration (6 months) DAPT
28 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
29 Twelve Versus 24 Months of Dual Antiplatelet Therapy in Patients With Percutaneous Coronary Intervention for In-stent Restenosis Unknown status NCT02402491 Phase 4 12 months of P2Y12 receptor antagonist;24 months of P2Y12 receptor antagonist;Aspirin
30 Randomized Trial of Prasugrel Plus Bivalirudin vs. Clopidogrel Plus Heparin in Patients With Acute STEMI Unknown status NCT00976092 Phase 4 Prasugrel;Bivalirudin;Clopidogrel;Heparin
31 Pilop Trial of OCT-determined Coverage of Permanent or Polymer-free Sirolimus Eluting Stent at Long Term Unknown status NCT01260558 Phase 4
32 Comparison of the Efficacy of Everolimus-Eluting Versus Sirolimus-Eluting Stent for Coronary Lesions Unknown status NCT00698607 Phase 4 6-month clopidogrel therapy;12-month clopidogrel therapy
33 Platelet Function With New Pediatric Oxygenator and Heparin and Non Heparin Coating in Pediatric Cardiac Surgery Unknown status NCT01648712 Phase 4
34 Evaluation of the Potential Action of Coagulation Factors Concentrates in the Reversal of the Antithrombotic Action of New Oral Anticoagulants: Studies ex Vivo in Blood Samples From Healthy Volunteers Unknown status NCT01478282 Phase 4 Rivaroxaban;Dabigatran
35 Safety and Efficacy of Thrombus Aspiration in Patients With ST-segment Elevation Myocardial Infarction (STEMI) Unknown status NCT02606435 Phase 4
36 The Use of Dabigatran Etexilate in Patients With Atrial Fibrillation After Mitral Valve Prosthetic Replacement Unknown status NCT03183843 Phase 4 Dabigatran Etexilate;Warfarin
37 A Prospective, Multicenter, Randomized, Open-label Trial to Evaluate Efficacy and Safety of 5mg Maintenance Dose of Prasugrel in Patients With Acute Coronary Syndrome Who Underwent Percutaneous Coronary Intervention With BiomatrixTM Stent Unknown status NCT02446730 Phase 4 Prasugel;Clopidogrel
38 The Efficacy and Safety of Paclitaxel-eluting SeQuent Please Drug-Eluting Balloon for Treatment of lesiOns in Native smalL coronarY Arteries (DEB-ONLY) Unknown status NCT01903902 Phase 4
39 Erythropoietin Prevention Trial of Coronary Restenosis and Cardiac Remodeling After Acute Myocardial Infarction (EPOC-AMI) Unknown status NCT00423020 Phase 4 Erythropoietin
40 Thrombus Aspiration During Percutaneous Coronary Intervention in Acute Non-ST-elevation Myocardial Infarction Study (TAPAS II) Unknown status NCT01013038 Phase 4
41 Test of Efficacy and Safety of the Dual Antiplatelet Therapy Compared to the Combination of Oral Anticoagulant Therapy + Dual Antiplatelet Therapy in Patients With Atrial Fibrillation With Low-moderate Risk Submitted to Coronary Stent Implantation Unknown status NCT01141153 Phase 4 Acetylsalicylic Acid + clopidogrel + acenocoumarol;Acetylsalicylic Acid + clopidogrel
42 Intracoronary Brachytherapy for Recurrent Restenosis After Multiple Drug-Eluting Stents. Short Title: Scripps V Unknown status NCT00714545 Phase 4
43 Single-center Randomized Controlled Study of Omeprazole and Pantoprazole Antiplatelet Effect of Clopidogrel Clinical Randomized Controlled Trials Unknown status NCT01735227 Phase 4 omeprazole;Pantoprazole
44 TITANIC-XV Trial: Prospective, Multicenter and Randomized Trial (Bioactive Bare Metal Titanium Stent Versus Everolimus Drug Eluting Stent) Unknown status NCT01510509 Phase 4
45 Efficacy and Safety of New Generation Drug Eluting Stents Associated With an Ultra Short Duration of Dual Antiplatelet Therapy. Design of the Short Duration of Dual antiplatElet Therapy With SyNergy II Stent in Patients Older Than 75 Years Undergoing Percutaneous Coronary Revascularization. Unknown status NCT02099617 Phase 4
46 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
47 A Randomized Study Aimed at Comparing Activated Partial Thromboplastin Time and Anti-Xa Activity and in Patients Requiring Unfractionated Heparin Infusion Unknown status NCT03426982 Phase 4 Unfractionated heparin;Unfractionated heparin
48 Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome Unknown status NCT01951001 Phase 4 Prasugrel
49 Comparison of Ticagrelor and Clopidogrel on Reperfusion in Patients With AMI Undergoing PPCI Evaluated by SPECT Unknown status NCT02233790 Phase 4 Ticagrelor;Clopidogrel
50 A Randomized Study to Evaluate Safety and Efficacy of the ExcelTM Sirolimus Eluting Stent With a Biodegradable Polymer Versus SirOlimus ELUting Stent With Non-Biodegradable Polymer in the Treatment of PatIents With de nOvo Coronary Artery LesioNs Unknown status NCT00825773 Phase 4

Search NIH Clinical Center for Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Pentoxifylline

Genetic Tests for Complement Hyperactivation, Angiopathic Thrombosis, and...

Anatomical Context for Complement Hyperactivation, Angiopathic Thrombosis, and...

MalaCards organs/tissues related to Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy:

40
Liver, Heart, Testes, Endothelial, Brain, Lung, Prostate

Publications for Complement Hyperactivation, Angiopathic Thrombosis, and...

Articles related to Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy:

# Title Authors PMID Year
1
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. 56 6 61
28657829 2017
2
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy. 6 56
28657861 2017
3
A family with protein-losing enteropathy. 56
4813510 1974
4
Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. 61
31421540 2019
5
CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease. 61
30565236 2019

Variations for Complement Hyperactivation, Angiopathic Thrombosis, and...

ClinVar genetic disease variations for Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD55 NM_001114752.1(CD55):c.43delC (p.Leu15Serfs)deletion Pathogenic 427983 rs1114167430 1:207495152-207495152 1:207321807-207321807
2 CD55 NM_000574.5(CD55):c.110del (p.Gly37fs)deletion Pathogenic 431760 rs1135402915 1:207495735-207495735 1:207322390-207322390
3 CD55 NM_000574.5(CD55):c.149_150delinsCCTT (p.Glu50fs)indel Pathogenic 431761 rs1135402916 1:207495775-207495776 1:207322430-207322431
4 CD55 NM_000574.5(CD55):c.800G>C (p.Cys267Ser)SNV Pathogenic 431762 rs1135402917 1:207504588-207504588 1:207331243-207331243
5 CD55 NM_000574.5(CD55):c.287-1G>ASNV Pathogenic 431763 rs1135402918 1:207497903-207497903 1:207324558-207324558
6 XDH NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)SNV Uncertain significance 598996 rs1558697792 2:31602803-31602803 2:31379937-31379937
7 XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His)SNV Uncertain significance 335760 rs143981573 2:31562482-31562482 2:31339616-31339616

UniProtKB/Swiss-Prot genetic disease variations for Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy:

73
# Symbol AA change Variation ID SNP ID
1 CD55 p.Cys267Ser VAR_079373 rs113540291

Expression for Complement Hyperactivation, Angiopathic Thrombosis, and...

Search GEO for disease gene expression data for Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy.

Pathways for Complement Hyperactivation, Angiopathic Thrombosis, and...

GO Terms for Complement Hyperactivation, Angiopathic Thrombosis, and...

Sources for Complement Hyperactivation, Angiopathic Thrombosis, and...

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