CHAPLE
MCID: CMP080
MIFTS: 37

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 57 72
Chaple 57 72
Complement Hyperactivation-Angiopathic Thrombosis-Protein-Losing Enteropathy Syndrome 58
Thrombosis of Blood Vessel 70
Cd55 Deficiency 58
Chaple Syndrome 58
Thrombosis 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy, also known as chaple, is related to blood group, cromer system and protein-losing enteropathy. An important gene associated with Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy is CD55 (CD55 Molecule (Cromer Blood Group)). The drugs Norethindrone and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include liver, endothelial and whole blood, and related phenotypes are thrombocytosis and hepatomegaly

UniProtKB/Swiss-Prot : 72 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 blood group, cromer system 11.0
2 protein-losing enteropathy 10.1
3 hemolytic uremic syndrome, atypical 1 9.9
4 hemolytic-uremic syndrome 9.9
5 hemoglobinuria 9.9
6 lymphangiectasis 9.9
7 primary intestinal lymphangiectasia 9.9
8 angiosarcoma 9.9
9 thrombosis 9.9
10 diarrhea 9.9
11 gastrointestinal system disease 9.9
12 atherosclerosis susceptibility 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 growth delay 31 HP:0001510
7 abdominal pain 31 HP:0002027
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 418)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norethindrone Approved Phase 4 68-22-4 6230
2
Sodium citrate Approved, Investigational Phase 4 68-04-2
3
Atorvastatin Approved Phase 4 134523-00-5 60823
4
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
5
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
6
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
7
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
8
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
9
Metformin Approved Phase 4 657-24-9 14219 4091
10
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
11
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
12
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
13
Abciximab Approved Phase 4 143653-53-6
14
Tirofiban Approved Phase 4 144494-65-5 60947
15
Polyestradiol phosphate Approved Phase 4 28014-46-2
16
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
17
Acetaminophen Approved Phase 4 103-90-2 1983
18
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
19
fluindione Approved, Investigational Phase 4 957-56-2
20
Phenindione Approved, Investigational Phase 4 83-12-5 4760
21
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
22
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
23
Taurolidine Approved, Investigational Phase 4 19388-87-5
24
Glimepiride Approved Phase 4 93479-97-1 3476
25
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
26
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
27
Liraglutide Approved Phase 4 204656-20-2 44147092
28
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
29
Racepinephrine Approved Phase 4 329-65-7 838
30 Orange Approved Phase 4
31
Edoxaban Approved Phase 4 480449-70-5
32
Nadroparin Approved, Investigational Phase 4
33
Dipyridamole Approved Phase 4 58-32-2 3108
34
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
35
Dronedarone Approved Phase 4 141626-36-0, 141625-93-6 154087
36
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
37
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
38
Warfarin Approved Phase 4 81-81-2 6691 54678486
39
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
40
Lenvatinib Approved, Investigational Phase 4 417716-92-8
41
Ticagrelor Approved Phase 4 274693-27-5 9871419
42
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
43
Rivaroxaban Approved Phase 4 366789-02-8
44
Apixaban Approved Phase 4 503612-47-3 10182969
45
Argatroban Approved, Investigational Phase 4 74863-84-6 152951
46
Desirudin Approved Phase 4 120993-53-5
47
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
48 Garlic Approved, Nutraceutical Phase 4 8008-99-9
49
Coumarin Experimental Phase 4 91-64-5 323
50
arachidonic acid Experimental Phase 4 506-32-1 444899

Interventional clinical trials:

(show top 50) (show all 1329)
# Name Status NCT ID Phase Drugs
1 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
2 Dose Effect of Tranexamic Acid on the Incidence of Deep Venous Thrombus in Cardiac Surgery With Cardiopulmonary Bypass Unknown status NCT03838328 Phase 4 Tranexamic Acid
3 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
4 Study of the OmniWave Endovascular System in Subjects With Lower and Upper Extremity Deep Vein Thrombosis - SONIC I Study Unknown status NCT00640731 Phase 4
5 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis (TWISTER) Unknown status NCT01252420 Phase 4 Enoxaparin
6 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
7 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
8 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
9 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
10 Efficacy and Safety of Warfarin Anticoagulation for Prevention of Portal Vein Thrombosis in Liver Cirrhotic Patients With Hypersplenism After Laparoscopic Splenectomy Unknown status NCT02238444 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
11 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
12 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
13 The Danish Non-vitamin K Antagonist Oral Anticoagulation Study. A Cluster Randomized Study Comparing Safety and Efficacy of Edoxaban, Apixaban, Rivaroxaban and Dabigatran for Oral Anticoagulation in Patients With Venous Thromboembolism. Unknown status NCT03129555 Phase 4 Dabigatran Etexilate Oral Capsule;Rivaroxaban Oral Tablet;Edoxaban Oral Tablet;Apixaban Oral Tablet
14 Single-center Randomized Controlled Study of Omeprazole and Pantoprazole Antiplatelet Effect of Clopidogrel Clinical Randomized Controlled Trials Unknown status NCT01735227 Phase 4 omeprazole;Pantoprazole
15 Clinical Study of Combination Therapy for Angina of Coronary Heart Disease With Aspirin and Salvianolate Injection Based on Population Pharmacokinetics and Therapeutic Effect:A Randomized, Controlled Trial Unknown status NCT02694848 Phase 4 Salvianolate injection;Aspirin
16 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
17 Comparison of Topical and Infusion Tranexamic Acid on Blood Loss and Risk of Deep Vein Thrombosis After Total Knee Arthroplasty Unknown status NCT02453802 Phase 4 Tranexamic Acid 5%,5ml/amp;Tranexamic Acid 5%,5ml/amp;rivaroxaban (10mg);0.9% Normal Saline;0.9% Normal Saline
18 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography Unknown status NCT02826200 Phase 4 Acenocoumarol
19 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
20 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
21 RCT Research: the Treatment of Hepatic Carcinoma With Portal Vein Branch Tumor Thrombosis (Resection or Sorafenib) Unknown status NCT03178656 Phase 4 Sorafenib
22 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)
23 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
24 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
25 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
26 Rapid P2Y12 Receptor Inhibition Attenuates Inflammatory Cell Infiltration in Thrombus Aspirated From the Infarct-related Artery in STEMI Patients: A Prospective Randomized Trial of Ticagrelor Versus Clopidogrel Unknown status NCT02639143 Phase 4 ticagrelor;Clopidogrel
27 Phase 4 Study of Postoperative Prostaglandin E1 in Head and Neck Microsurgery Unknown status NCT00733434 Phase 4 Prostaglandin E1
28 Thrombus Aspiration During Percutaneous Coronary Intervention in Acute Non-ST-elevation Myocardial Infarction Study (TAPAS II) Unknown status NCT01013038 Phase 4
29 Phenprocoumon Versus Dabigatran in Subjects With Atrial Fibrillation and Left Atrial Thrombus - a Prospective, Randomized, Controlled, Open-label One Year Follow-up Pilot Study Unknown status NCT02591225 Phase 4 Dabigatranetexilate;Phenprocoumon
30 Phase 4 Study of Primary Angioplasty Combined Distal Injection of Abciximab to Thrombus and Aspiration With Catheter Unknown status NCT01383785 Phase 4
31 Hepatic Resection Versus Transcatheter Arterial Chemoembolization for Hepatocellular Carcinoma Complicated by Portal Vein Tumor Thrombosis.A Prospective and Randomized Clinical Trial Unknown status NCT01350206 Phase 4
32 A Randomised Controlled Trial Comparing Bacteraemia Rates in Closed Luer Lock Access Devices(TEGO) With Standard Devices in the Outpatient Haemodialysis Population Unknown status NCT01082770 Phase 4
33 Taurolidine Citrate and Unfractionated Heparin Combination Versus Unfractionated Heparin Alone in Prevention of Inflammation in Hemodialysis Catheters. Unknown status NCT03539718 Phase 4 Taurolidine heparin;Heparin Sodium
34 Bedside Testing of the CYP2C19 Gene to Asses Effectiveness of Clopidogrel in Coronary Artery Disease Patients Treated With Percutaneous Coronary Intervention : Individualized Antiplatelet Drugs Treatment to Improve Prognosis Unknown status NCT01823185 Phase 4 clopidogrel;Ticagrelor or prasugrel
35 Randomized, Crossover Study of the Antithrombotic Effects of Ticagrelor Plus Aspirin Versus Clopidogrel Plus Aspirin When Administered With Bivalirudin Completed NCT01642238 Phase 4 Ticagrelor + ASA + Bivalirudin;Clopidogrel + ASA + Bivalirudin
36 Can Treatment With Low Molecular Weight Heparin During Pregnancy With Intrauterine Growth Restriction Increase Birth Weight? Completed NCT01390051 Phase 4 Innohep (Tinzaparin);tinzaparin
37 Phase 4 Study of the Effect of Celecoxib on the Antiplatelet Effect of Aspirin and Clopidogrel Completed NCT00882388 Phase 4 aspirin;celecoxib;aspirin + celecoxib;aspirin + clopidogrel;aspirin + clopidogrel + celecoxib
38 The Effect of Erythropoietin on Platelet Activation Markers: a Prospective Study in Healthy Volunteers Completed NCT01392612 Phase 4 erythropoietin
39 TIcagrelor in Rotational Atherectomy to Reduce TROPonin Enhancement: the TIRATROP Study, a Randomized Controlled Trial Completed NCT02505399 Phase 4 ticagrelor;clopidogrel
40 Low Dose Aspirin and Statins for Primary Prevention of Atherosclerosis and Arterial Thromboembolism in Systemic Lupus Erythematosus: A Randomized Double-blind Placebo-controlled Trial Completed NCT00371501 Phase 4 Rosuvastatin;placebo;aspirin;placebo
41 Randomised, Prospective Study of the Use of In-Line Filtration on the Reduction of Complication Rate in Critically Ill Children Completed NCT00209768 Phase 4
42 Antiplatelet Therapy Effect on Platelet Extracellular Vesicles in Acute Myocardial Infarction Completed NCT02931045 Phase 4 Ticagrelor;Clopidogrel
43 Stents Coated With the Biodegradable Polymer on Their Abluminal Faces and Elution of Sirolimus Versus Biolimus Elution for the Treatment of de Novo Coronary Lesions - Destiny Trial Completed NCT01856088 Phase 4
44 Anti-inflammatory Effects of Intracoronary and Intravenous Abciximab Administration During Primary Percutaneous Coronary Intervention.(Molecole di Adesione Nella Sindrome Coronarica Acuta Completed NCT01757457 Phase 4 Intracoronary administration of an abciximab bolus during primary PCI;Intravenous administration of an abciximab bolus during primary PCI
45 Safety and Efficacy of Peri-procedural Use of Tirofiban in Elective Percutaneous Coronary Intervention for Long Coronary Lesions With Overlapping Drug-Eluting Stent Completed NCT01498003 Phase 4 tirofiban;normal saline solution
46 The MAgnitude of Platelet Inhibition and the Pharmacokinetics of a 600 mg Loading Dose of Clopidogrel, in Different Patient CATegories (Stable Angina Versus Acute-coronary Syndromes Versus ST-elevated Myocardial Infarction). Completed NCT01012544 Phase 4 Clopidogrel
47 Treatment of Upper Extremity Deep-Vein Thrombosis Completed NCT00245856 Phase 4 Dalteparin sodium injection;Warfarin
48 Absence of Residual Vein Thrombosis After an Episode of Unprovoked Deep Vein Thrombosis: Short-Term Anticoagulation is Safe. Completed NCT00623987 Phase 4 warfarin accordingly INR value
49 Residual Vein Thrombosis (RVT) Establishes the Optimal Duration of Oral Anticoagulants After a First Episode of Deep Vein Thrombosis of the Lower Limbs Completed NCT00438230 Phase 4 Warfarin
50 Prevalence and Causes of Preventable and Serious Adverse Drug Reactions Related to the Use of Oral Anticoagulants Completed NCT02720328 Phase 4

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Endothelial, Whole Blood, Bone, Bone Marrow, Skeletal Muscle, Lung

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. 57 61 6
28657829 2017
2
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy. 6 57
28657861 2017
3
A family with protein-losing enteropathy. 57
4813510 1974
4
Complement inhibitor for therapy of CHAPLE. 61
33398184 2021
5
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease. 61
33398182 2021
6
Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. 61
31421540 2019
7
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 Position
1 CD55 NM_000574.5(CD55):c.149_150delinsCCTT (p.Glu50fs) Indel Pathogenic 431761 rs1135402916 GRCh37: 1:207495775-207495776
GRCh38: 1:207322430-207322431
2 CD55 NM_000574.5(CD55):c.800G>C (p.Cys267Ser) SNV Pathogenic 431762 rs1135402917 GRCh37: 1:207504588-207504588
GRCh38: 1:207331243-207331243
3 CD55 NM_000574.5(CD55):c.110del (p.Gly37fs) Deletion Pathogenic 431760 rs1135402915 GRCh37: 1:207495735-207495735
GRCh38: 1:207322390-207322390
4 CD55 NM_000574.5(CD55):c.287-1G>A SNV Pathogenic 431763 rs1135402918 GRCh37: 1:207497903-207497903
GRCh38: 1:207324558-207324558
5 CD55 NM_001114752.1(CD55):c.43delC (p.Leu15Serfs) Deletion Pathogenic 427983 rs1114167430 GRCh37: 1:207495152-207495152
GRCh38: 1:207321807-207321807
6 XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His) SNV Uncertain significance 335760 rs143981573 GRCh37: 2:31562482-31562482
GRCh38: 2:31339616-31339616
7 XDH NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) SNV Uncertain significance 598996 rs1558697792 GRCh37: 2:31602803-31602803
GRCh38: 2:31379937-31379937

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

72
# 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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