CHAPLE
MCID: CMP080
MIFTS: 34

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

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune 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 58 76
Chaple 58 76
Thrombosis of Blood Vessel 74
Thrombosis 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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. An important gene associated with Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy is CD55 (CD55 Molecule (Cromer Blood Group)). The drugs Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and testes, and related phenotypes are thrombocytosis and hepatomegaly

UniProtKB/Swiss-Prot : 76 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 11.2

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

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

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 33 very rare (1%) HP:0001894
2 hepatomegaly 33 HP:0002240
3 malabsorption 33 HP:0002024
4 vomiting 33 HP:0002013
5 ascites 33 HP:0001541
6 abdominal pain 33 HP:0002027
7 pulmonary embolism 33 HP:0002204
8 growth delay 33 HP:0001510
9 intestinal obstruction 33 HP:0005214
10 iron deficiency anemia 33 HP:0001891
11 diarrhea 33 HP:0002014
12 hypoalbuminemia 33 HP:0003073
13 hypoproteinemia 33 HP:0003075
14 generalized edema 33 HP:0007430
15 clubbing 33 HP:0001217
16 hepatic vein thrombosis 33 HP:0030243
17 budd-chiari syndrome 33 HP:0002639
18 abnormal intestine morphology 33 HP:0002242

Symptoms via clinical synopsis from OMIM:

58
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

Skeletal Hands:
clubbing of fingers

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)

Head And Neck Face:
edema

Laboratory Abnormalities:
hypoalbuminemia
hypoproteinemia
micronutrient deficiencies

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

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 932)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6 46507594 772
2
Dalteparin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6
3
Acenocoumarol Approved, Investigational Phase 4,Phase 3,Not Applicable 152-72-7 54676537 9052
4
Enoxaparin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6 772
5
Atorvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 134523-00-5 60823
6
Nadroparin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable
7
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1401-55-4
8
Warfarin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81-81-2 54678486 6691
9
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1994-09-7, 94-09-7 2337
10
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-78-2 2244
11
Phenobarbital Approved, Investigational Phase 4,Phase 3,Not Applicable 50-06-6 4763
12
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1197-18-8 5526
14
Tranylcypromine Approved, Investigational Phase 4,Phase 3 155-09-9 441233
15
Rivaroxaban Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 366789-02-8
16
Alprostadil Approved, Investigational Phase 4,Phase 2 745-65-3 5280723 149351
17
Clopidogrel Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 120202-66-6, 113665-84-2 60606
18
Salicylic acid Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 69-72-7 338
19
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 73590-58-6 4594
20
Pantoprazole Approved Phase 4,Phase 3,Phase 1,Not Applicable 102625-70-7 4679
21
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53123-88-9 46835353 5284616 6436030
22
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
23
Ticagrelor Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 274693-27-5 9871419
24
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 50-28-2 5757
25
Polyestradiol phosphate Approved Phase 4,Phase 2,Not Applicable 28014-46-2
26
Norethindrone Approved Phase 4,Not Applicable 68-22-4 6230
27
Phenprocoumon Approved, Investigational Phase 4,Phase 3,Phase 2 435-97-2 54680692 9908
28
Bivalirudin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 128270-60-0 16129704
29
Cobalt Approved, Experimental Phase 4,Phase 2,Phase 3,Not Applicable 7440-48-4 104729
30
Chromium Approved Phase 4,Phase 2,Phase 3,Not Applicable 7440-47-3 27668
31
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 159351-69-6 70789204 6442177
32
Cilostazol Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 73963-72-1 2754
33
Hydroxocobalamin Approved Phase 4,Phase 3,Not Applicable 13422-51-0 15589840 11953898
34
leucovorin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-05-9 143 6006
35
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 3,Not Applicable 13422-55-4
36
Ferrous succinate Approved Phase 4 10030-90-7
37
Iron Approved, Experimental Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 7439-89-6, 15438-31-0 27284 23925
38
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 33069-62-4 36314
39 Menaquinone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1182-68-9
40
Phylloquinone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 84-80-0
41 fluindione Approved, Investigational Phase 4,Phase 3,Not Applicable 957-56-2
42
Nitric Oxide Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 10102-43-9 145068
43 Nutmeg Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44
Chlorhexidine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 55-56-1 2713 9552079
45
Coal tar Approved Phase 4 8007-45-2
46
Pravastatin Approved Phase 4,Phase 2 81093-37-0 54687
47
Eptifibatide Approved, Investigational Phase 4,Phase 3,Phase 2 188627-80-7 123610
48
Abciximab Approved Phase 4,Phase 3,Phase 2,Not Applicable 143653-53-6
49
Tirofiban Approved Phase 4,Phase 3,Phase 2,Not Applicable 144494-65-5 60947
50 Certoparin Approved, Investigational Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 4589)
# Name Status NCT ID Phase Drugs
1 Residual Vein Thrombosis and the Optimal Duration of Low Molecular Weight Heparin in Cancer Patients With Deep Vein Thrombosis Unknown status NCT00450645 Phase 4 low molecular weight heparin
2 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography (RETORIC) Unknown status NCT02826200 Phase 4 Acenocoumarol
3 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
4 Rosuvastatin for Preventing Deep Vein Thrombosis Unknown status NCT01021488 Phase 4 Rosuvastatin 20mg/d for 14days;enoxaparin only
5 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis Unknown status NCT01252420 Phase 4 Enoxaparin
6 Re-STOP DVT: Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users Unknown status NCT01063426 Phase 4 High dose Atorvastatin+enoxaparin;Enoxaparin
7 The Effect of Anticoagulation in Cirrhotic Patients With Portal Vein Thrombosis:A Multicenter RCT Unknown status NCT02630095 Phase 4 Nadroparin Calcium and Warfarin
8 The Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis Unknown status NCT02398357 Phase 4 Nadroparin Calcium and Warfarin
9 Safety and Efficacy Study of OmniWave Endovascular System to Treat Deep Vein Thrombosis Unknown status NCT00640731 Phase 4
10 Hepatic Resection Versus Transcatheter Arterial Chemoembolization for Hepatocellular Carcinoma Complicated by Portal Vein Tumor Thrombosis Unknown status NCT01350206 Phase 4
11 Antiaggregation in Primary Prevention of Vascular Access for Hemodialysis Unknown status NCT02055131 Phase 4 aspirin
12 Prolonged Hemodialysis Catheter Survival With Copolymer Coating and Rt-PA Unknown status NCT01670474 Phase 4 rt-PA (2mg/2mL) actilysis;rt-PA
13 Evicel Study 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)
14 Scripps Evaluation of Antiplatelet Therapies for Intermediate Duration With the Endeavor Stent (Seaside) Unknown status NCT00963781 Phase 4 Reduced duration (6 months) DAPT
15 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
16 Comparison of Topical and Infusion Tranexamic Acid 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
17 The Use of Prostaglandin E1 in Head and Neck Microsurgery Unknown status NCT00733434 Phase 4 Prostaglandin E1
18 PPARGC1β and CNTN4 Genotype Aspirin Study Unknown status NCT02970604 Phase 4 Aspirin
19 Randomised Controlled Trial of Needle Free Access Devices in Preventing Hemodialysis Blood Stream Infection Unknown status NCT01082770 Phase 4
20 Anticoagulation in Stent Intervention Unknown status NCT01141153 Phase 4 Acetylsalicylic Acid + clopidogrel + acenocoumarol;Acetylsalicylic Acid + clopidogrel
21 DEDICA (Dose of HEparin During Coronary Angioplasty) Trial Unknown status NCT01694459 Phase 4 Low-dose heparin;Standard dose heparin
22 Omeprazole and Pantoprazole Antiplatelet Effect of Clopidogrel Clinical Trials(OPEN) Unknown status NCT01735227 Phase 4 omeprazole;Pantoprazole
23 Late Incomplete Stent Apposition Evaluation II: Comparison Between Polimer-based and No-polimer Stent System. IVUS Based Study Unknown status NCT01375855 Phase 4
24 Multivessel Stenting Versus Staged Revascularization With Zotarolimus-eluting Stent for STEMI Unknown status NCT01781715 Phase 4
25 Rapid P2Y12 Receptor Inhibition Attenuates Inflammatory Cell Infiltration in Thrombus Aspirated From the STEMI Patients Unknown status NCT02639143 Phase 4 ticagrelor;Clopidogrel
26 Atrial Fibrillation and Ischemic Events With Rivaroxaban in Patients With Stable Coronary Artery Disease Study Unknown status NCT02642419 Phase 4 Rivaroxaban and single antiplatelet drug (aspirin, clopidogrel or prasugrel);Rivaroxaban
27 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
28 anti10a Levels in Women Treated With LMWH in the Postpartum Period Unknown status NCT02856295 Phase 4 clexane (LMWH)
29 Left Atrial Thrombus Reduction - Effect of Dabigatran Versus Phenprocoumon Unknown status NCT02591225 Phase 4 Dabigatranetexilate;Phenprocoumon
30 Triple Therapy in Patients on Oral Anticoagulation After Drug Eluting Stent Implantation Unknown status NCT00776633 Phase 4 aspirin;clopidogrel;oral anticoagulation
31 Resolution of Left Atrial-Appendage Thrombus - Effects of Dabigatran in Patients With AF Unknown status NCT02256683 Phase 4 Dabigatran etexilate;Phenprocoumon
32 Efficacy Study of Combined Prasugrel and Bivalirudin Versus Clopidogrel and Heparin in Myocardial Infarction Unknown status NCT00976092 Phase 4 Prasugrel;Bivalirudin;Clopidogrel;Heparin
33 Twelve vs 24 Months of Dual Antiplatelet Therapy in Patients With Coronary Revascularization for In-stent Restenosis Unknown status NCT02402491 Phase 4 12 months of P2Y12 receptor antagonist;24 months of P2Y12 receptor antagonist;Aspirin
34 Rivaroxaban in Patients With Atrial Fibrillation and Coronary Artery Disease Undergoing Percutaneous Coronary Intervention Unknown status NCT02334254 Phase 4 rivaroxaban and ticagrel therapy;triple antithrombotic regimen with warfarin, asipirin and clopidogrel
35 Reversal of the Antithrombotic Action of New Oral Anticoagulants Unknown status NCT01478282 Phase 4 Rivaroxaban;Dabigatran
36 Cost Effectiveness Analysis In Patients With Heart Valve Prosthesis Unknown status NCT02022527 Phase 4 Acetyl Salicylic Acid;Warfarin;Placebo (for Aspirin)
37 Harmonizing Optimal Strategy for Treatment of Coronary Artery Stenosis- EXtended Antiplatelet Monotherapy (HOST-EXAM) Unknown status NCT02044250 Phase 4 Clopidogrel;Aspirin
38 Pharmacokinetics and Pharmacodynamics of Ticagrelor in Patients With Stable Angina, NSTEMI and STEMI Undergoing PCI Unknown status NCT02012140 Phase 4 ticagrelor
39 Safety and Effectiveness of the Coronary Momo Stent Unknown status NCT01535625 Phase 4
40 Comparison of Biolimus-eluting Biodegradable Polymer, Everolimus-eluting and Sirolimus-eluting Coronary Stents Unknown status NCT01268371 Phase 4
41 Efficacy and Safety of the YUKON Drug Eluting Stent in Diffuse Coronary Artery Disease Unknown status NCT01418794 Phase 4
42 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
43 Efficacy of Xience/Promus Versus Cypher in rEducing Late Loss After stENTing Unknown status NCT00698607 Phase 4 6-month clopidogrel therapy;12-month clopidogrel therapy
44 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
45 Erythropoietin in the Treatment of Anemia After Autologous Hematopoietic Stem Cell Transplantation Unknown status NCT03010579 Phase 4 erythropoietin;iron supplementation
46 Assessment of Surface Coverage of Two Types of DES in Diabetes Mellitus and Non- Diabetes Mellitus Unknown status NCT01023919 Phase 4
47 Safety and Efficacy of Six Months Dual Antiplatelet Therapy After Drug-Eluting Stenting Unknown status NCT00661206 Phase 4 Clopidogrel;Placebo
48 ATHERO: Advanced Technology Halting Early Re-Stenosis and Occlusion Unknown status NCT00407940 Phase 4
49 Bedside Testing of CYP2C19 Gene for Treatment of Patients With PCI With Antiplatelet Therapy Unknown status NCT01823185 Phase 4 clopidogrel;Ticagrelor or prasugrel
50 Arterial Catheter to Monitor Glycemia Unknown status NCT01176279 Phase 4

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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:

42
Heart, Liver, Testes, Kidney, Lung, Endothelial, Brain

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

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

# Title Authors Year
1
CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease. ( 30565236 )
2019

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

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

76
# Symbol AA change Variation ID SNP ID
1 CD55 p.Cys267Ser VAR_079373 rs113540291

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 XDH NM_000379.3(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 GRCh38 Chromosome 2, 31339616: 31339616
2 XDH NM_000379.3(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 GRCh37 Chromosome 2, 31562482: 31562482
3 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh37 Chromosome 1, 207495153: 207495153
4 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh38 Chromosome 1, 207321808: 207321808
5 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh37 Chromosome 1, 207495736: 207495736
6 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh38 Chromosome 1, 207322391: 207322391
7 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh37 Chromosome 1, 207495775: 207495776
8 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh38 Chromosome 1, 207322430: 207322431
9 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh38 Chromosome 1, 207331243: 207331243
10 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh37 Chromosome 1, 207504588: 207504588
11 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh37 Chromosome 1, 207497903: 207497903
12 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh38 Chromosome 1, 207324558: 207324558
13 XDH NM_000379.4(XDH): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 31602803: 31602803
14 XDH NM_000379.4(XDH): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 31379937: 31379937

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...

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