MCID: CMP080
MIFTS: 32

Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy

Categories: Genetic diseases, Gastrointestinal diseases, Blood 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 75
Thrombosis 44 73
Chaple 57 75
Thrombosis of Blood Vessel 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy, also known as thrombosis, is related to portal vein thrombosis and thrombosis. An important gene associated with Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy is CD55 (CD55 Molecule (Cromer Blood Group)). The drugs rituximab and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related phenotypes are edema and clubbing

UniProtKB/Swiss-Prot : 75 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 top 50) (show all 942)
# Related Disease Score Top Affiliating Genes
1 portal vein thrombosis 12.4
2 thrombosis 12.4
3 intracranial thrombosis 12.3
4 cavernous sinus thrombosis 12.3
5 coronary thrombosis 12.3
6 sagittal sinus thrombosis 12.2
7 lateral sinus thrombosis 12.1
8 primitive portal vein thrombosis 12.1
9 carotid artery thrombosis 12.1
10 cerebral sinovenous thrombosis 12.1
11 intracranial sinus thrombosis 12.1
12 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 12.0
13 thrombophilia due to thrombin defect 12.0
14 factor v excess with spontaneous thrombosis 11.9
15 budd-chiari syndrome 11.8
16 thrombophilia, x-linked, due to factor ix defect 11.5
17 heparin-induced thrombocytopenia 11.4
18 thrombophilia 11.4
19 antiphospholipid syndrome 11.3
20 protein s deficiency 11.3
21 protein c deficiency 11.2
22 post-thrombotic syndrome 11.2
23 polycythemia vera 11.2
24 dysfibrinogenemia 11.2
25 thoracic outlet syndrome 11.2
26 erythrocytosis, familial, 2 11.1
27 portal hypertension, noncirrhotic 11.1
28 hereditary antithrombin deficiency 11.1
29 pulmonary embolism 11.1
30 hepatic veno-occlusive disease 11.1
31 venous thoracic outlet syndrome 11.1
32 aneurysm 11.1
33 systemic lupus erythematosus 11.1
34 antithrombin iii deficiency 11.1
35 essential thrombocythemia 11.1
36 paroxysmal nocturnal hemoglobinuria 11.1
37 thrombophilia due to thrombomodulin defect 11.1
38 ischemia 11.1
39 thrombocytosis 11.1
40 may-thurner syndrome 11.1
41 varicose veins 11.0
42 factor vii deficiency 11.0
43 buerger disease 11.0
44 heparin cofactor ii deficiency 11.0
45 clopidogrel resistance 11.0
46 homocysteinemia 11.0
47 retroperitoneal fibrosis 11.0
48 chronic venous insufficiency 11.0
49 hughes-stovin syndrome 11.0
50 popliteal cyst 11.0

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...

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly
hepatic vein thrombosis
budd-chiari syndrome (in some patients)

Hematology:
anemia
thrombocytosis (in some patients)

Cardiovascular Vascular:
pulmonary embolism
cerebrovascular thrombosis
sinus vein thrombosis
pulmonary artery thrombosis
superior vena cava 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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 edema 32 HP:0000969
2 clubbing 32 HP:0001217
3 growth delay 32 HP:0001510
4 ascites 32 HP:0001541
5 iron deficiency anemia 32 HP:0001891
6 diarrhea 32 HP:0002014
7 abdominal pain 32 HP:0002027
8 abnormal intestine morphology 32 HP:0002242
9 budd-chiari syndrome 32 HP:0002639
10 hypoproteinemia 32 HP:0003075

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 all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 3 174722-31-7 10201696
2
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
3
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
4
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
5 Dexamethasone acetate Phase 3 1177-87-3
6 Antibodies Phase 3
7 Immunoglobulins Phase 3
8 Antibodies, Monoclonal Phase 3
9 Antirheumatic Agents Phase 3
10 BB 1101 Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ofatumumab Versus Rituximab Salvage Chemoimmunotherapy Followed by Autologous Stem Cell Transplant in Relapsed or Refractory Diffuse Large B Cell Lymphoma Completed NCT01014208 Phase 3 OFATUMUMAB + DHAP;RITUXIMAB + DHAP

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: thrombosis

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:

41
B Cells

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 CD55 p.Cys267Ser VAR_079373

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh37 Chromosome 1, 207495153: 207495153
2 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh38 Chromosome 1, 207321808: 207321808
3 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh37 Chromosome 1, 207495736: 207495736
4 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh38 Chromosome 1, 207322391: 207322391
5 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh37 Chromosome 1, 207495775: 207495776
6 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh38 Chromosome 1, 207322430: 207322431
7 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh38 Chromosome 1, 207331243: 207331243
8 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh37 Chromosome 1, 207504588: 207504588
9 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh37 Chromosome 1, 207497903: 207497903
10 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh38 Chromosome 1, 207324558: 207324558

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 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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