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CASP8D
MCID: CSP005
MIFTS: 55

Caspase 8 Deficiency (CASP8D)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Caspase 8 Deficiency

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MalaCards integrated aliases for Caspase 8 Deficiency:

Name: Caspase 8 Deficiency 56 12 52
Autoimmune Lymphoproliferative Syndrome Type 2b 12 52 29 6 15 71
Caspase-8 Deficiency 52 73 39
Alps2b 56 12 52
Ceds 56 12 58
Autoimmune Lymphoproliferative Syndrome with Recurrent Viral Infections 12 58
Alps with Recurrent Viral Infections 12 58
Caspase 8 Deficiency Syndrome 12 58
Autoimmune Lymphoproliferative Syndrome, Type Iib; Alps2b 56
Autoimmune Lymphoproliferative Syndrome, Type Iib 56
Autoimmune Lymphoproliferative Syndrome Type Iib 12
Caspase Eight Deficiency State 12
Casp8d 73

Characteristics:

Orphanet epidemiological data:

58
autoimmune lymphoproliferative syndrome with recurrent viral infections
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
caspase 8 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0110116
OMIM 56 607271
ICD10 32 D47.9
ICD10 via Orphanet 33 D47.9
UMLS via Orphanet 72 C1846545
Orphanet 58 ORPHA275517
MedGen 41 C1846545
UMLS 71 C1846545
Sources

Summaries for Caspase 8 Deficiency

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UniProtKB/Swiss-Prot : 73 Caspase-8 deficiency: Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization.

MalaCards based summary : Caspase 8 Deficiency, also known as autoimmune lymphoproliferative syndrome type 2b, is related to classic ehlers-danlos syndrome and ehlers-danlos syndrome. An important gene associated with Caspase 8 Deficiency is CASP8 (Caspase 8), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are splenomegaly and short stature

Disease Ontology : 12 An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33.

OMIM : 56 Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011). (607271)

Wikipedia : 74 Caspase-8 is a caspase protein, encoded by the CASP8 gene. It most likely acts upon caspase-3. CASP8... more...

Sources

Related Diseases for Caspase 8 Deficiency

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Diseases related to Caspase 8 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 classic ehlers-danlos syndrome 32.2 COL5A2 COL5A1
2 ehlers-danlos syndrome 29.9 FKBP14 COL5A2 COL5A1 B3GALT6
3 lymphoproliferative syndrome 29.5 FASLG FAS FADD CASP8 CASP10
4 myeloma, multiple 29.1 FASLG FAS CYLD CFLAR CASP8
5 autoimmune lymphoproliferative syndrome 27.5 TNFRSF1A RIPK3 RIPK1 PCSK1 MLKL FASLG
6 cranioectodermal dysplasia 1 12.1
7 camurati-engelmann disease 12.1
8 cranioectodermal dysplasia 3 11.5
9 ribbing disease 11.4
10 cranioectodermal dysplasia 2 11.2
11 cranioectodermal dysplasia 4 11.2
12 tendinopathy 10.4 COL5A1 CASP8
13 ehlers-danlos syndrome, classic type, 2 10.3 COL5A2 COL5A1
14 ehlers-danlos syndrome, classic type, 1 10.2 COL5A2 COL5A1
15 dystrophinopathies 10.1 TNFRSF1A CASP8
16 brittle cornea syndrome 2 10.1 FKBP14 COL5A2 COL5A1
17 type ii mixed cryoglobulinemia 10.1 FASLG FAS
18 celiac disease 1 10.1
19 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
20 drug allergy 10.1
21 covid-19 10.1
22 acute cystitis 10.1
23 thrombocytopenia 10.1
24 glioblastoma multiforme 10.1
25 astrocytoma 10.1
26 myeloid leukemia 10.1
27 crohn's disease 10.1
28 pulmonary embolism 10.1
29 irritable bowel syndrome 10.1
30 hypermobile ehlers-danlos syndrome 10.1
31 glioma 10.1
32 glial tumor 10.1
33 post-transplant lymphoproliferative disease 10.1 TNFRSF1A FADD CASP8
34 lymphocytic gastritis 10.0 FASLG FAS
35 collagen disease 9.9 FKBP14 COL5A2 COL5A1 B3GALT6
36 pulmonary hypertension 9.8
37 skin disease 9.8
38 neuroblastoma 9.8
39 splenomegaly 9.8
40 cardiomyopathy, familial hypertrophic, 1 9.7 FAS CASP8 CASP10 CASP1
41 silicosis 9.7 FASLG FAS CASP1
42 ectodermal dysplasia 9.7 TNFRSF1A FAS FADD CASP8
43 hypersensitivity reaction type iv disease 9.7 FASLG FAS FADD CASP8 CASP10
44 epstein-barr virus-associated gastric carcinoma 9.6 FASLG FAS
45 trypanosomiasis 9.6 TNFRSF1A FASLG FAS
46 pneumoconiosis 9.6 TNFRSF1A FASLG FAS CASP8
47 cowpox 9.6 TNFRSF1A FAS CASP8 CASP1
48 t-cell lymphoblastic leukemia/lymphoma 9.5 TNFRSF1A FASLG FAS CASP8
49 gastric adenocarcinoma 9.5 MLKL FASLG FAS CFLAR CASP8
50 viral hepatitis 9.5 TNFRSF1A FASLG FAS

Graphical network of the top 20 diseases related to Caspase 8 Deficiency:



Diseases related to Caspase 8 Deficiency
Sources

Symptoms & Phenotypes for Caspase 8 Deficiency

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Human phenotypes related to Caspase 8 Deficiency:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 short stature 31 HP:0004322
3 failure to thrive 31 HP:0001508
4 asthma 31 HP:0002099
5 chronic diarrhea 31 HP:0002028
6 eczema 31 HP:0000964
7 lymphadenopathy 31 HP:0002716
8 pneumonia 31 HP:0002090
9 recurrent sinopulmonary infections 31 HP:0005425
10 decreased t cell activation 31 HP:0005419
11 defective b cell activation 31 HP:0005384

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Growth Other:
failure to thrive

Skin Nails Hair Skin:
eczema

Respiratory Lung:
pneumonia

Growth Height:
short stature

Respiratory Airways:
asthma
reactive airway disease

Immunology:
lymphadenopathy
recurrent sinopulmonary infections
defective b cell activation
herpes simplex virus infection, mucocutaneous
defective cd95-induced apoptosis of peripheral blood lymphocytes
more
Abdomen Gastrointestinal:
diarrhea, chronic

Clinical features from OMIM:

607271

GenomeRNAi Phenotypes related to Caspase 8 Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.81 CASP1 CASP8
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.81 CASP1 CASP8 FADD FAS FASLG TNFRSF1A
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.81 CASP8
4 Reduced mammosphere formation GR00396-S 9.5 CASP1 COL5A1 COL5A2 FADD FAS FASLG
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CFLAR FADD FAS RIPK1 TNFRSF1A
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CASP1 CFLAR FADD FAS RIPK1 TNFRSF1A
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 CASP8

MGI Mouse Phenotypes related to Caspase 8 Deficiency:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 CASP1 CASP8 CFLAR CYLD FADD FAS
2 cardiovascular system MP:0005385 10.26 CASP1 CASP8 CFLAR COL5A1 COL5A2 FADD
3 hematopoietic system MP:0005397 10.25 CASP1 CASP8 CFLAR CYLD FADD FAS
4 growth/size/body region MP:0005378 10.23 CASP8 CFLAR COL5A1 COL5A2 CYLD FADD
5 endocrine/exocrine gland MP:0005379 10.22 CASP1 CASP8 CFLAR CYLD FADD FAS
6 homeostasis/metabolism MP:0005376 10.22 CASP1 CASP8 CFLAR CYLD FADD FAS
7 immune system MP:0005387 10.18 CASP1 CASP8 CFLAR CYLD FADD FAS
8 digestive/alimentary MP:0005381 10.15 CASP1 CYLD FADD FAS FASLG PCSK1
9 mortality/aging MP:0010768 10.06 B3GALT6 CASP1 CASP8 CFLAR COL5A1 COL5A2
10 integument MP:0010771 10.02 CASP1 CASP8 COL5A1 COL5A2 CYLD FAS
11 liver/biliary system MP:0005370 9.8 CASP8 FADD FAS FASLG RIPK1 RIPK3
12 neoplasm MP:0002006 9.43 CASP1 CASP8 CYLD FAS FASLG TNFRSF1A
13 vision/eye MP:0005391 9.23 B3GALT6 COL5A1 COL5A2 FAS FASLG PCSK1
Sources

Drugs & Therapeutics for Caspase 8 Deficiency

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Drugs for Caspase 8 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins
2 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transfusion in Sickle Cell Disease: Risk Factors for Alloimmunization Recruiting NCT03405402
2 Retrospective Study of the Risk Factors for Allo-immunization in Sickle Cell Disease Withdrawn NCT03401125

Search NIH Clinical Center for Caspase 8 Deficiency

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Genetic Tests for Caspase 8 Deficiency

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Genetic tests related to Caspase 8 Deficiency:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome Type 2b 29 CASP8
Sources

Anatomical Context for Caspase 8 Deficiency

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MalaCards organs/tissues related to Caspase 8 Deficiency:

40
T Cells, Nk Cells, B Cells, Bone Marrow, Bone, Thyroid, Skin
Sources

Publications for Caspase 8 Deficiency

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Articles related to Caspase 8 Deficiency:

(show all 37)
# Title Authors PMID Year
1
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. 6 56 61
12353035 2002
2
Advances in autoimmune lymphoproliferative syndromes. 56
21447005 2011
3
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). 56
19930184 2010
4
Somatic mutations--not just for cancer anymore. 56
15459299 2004
5
FADD and Caspase-8 Regulate Gut Homeostasis and Inflammation by Controlling MLKL- and GSDMD-Mediated Death of Intestinal Epithelial Cells. 61
32362323 2020
6
Smac mimetics can provoke lytic cell death that is neither apoptotic nor necroptotic. 61
32440848 2020
7
Caspase-8 is the molecular switch for apoptosis, necroptosis and pyroptosis. 61
31748744 2019
8
Cleavage of RIPK1 by caspase-8 is crucial for limiting apoptosis and necroptosis. 61
31511692 2019
9
Redundant and receptor-specific activities of TRADD, RIPK1 and FADD in death receptor signaling. 61
30741924 2019
10
Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency. 61
30267714 2019
11
Caspase-8 deficiency in mouse embryos triggers chronic RIPK1-dependent activation of inflammatory genes, independently of RIPK3. 61
29666472 2018
12
The caspase-8/RIPK3 signaling axis in antigen presenting cells controls the inflammatory arthritic response. 61
28978351 2017
13
Dynamic quantitative proteomics characterization of TNF-α-induced necroptosis. 61
27704275 2016
14
Conditional deletion of caspase-8 in macrophages alters macrophage activation in a RIPK-dependent manner. 61
26471282 2015
15
Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings. 61
25814141 2015
16
Caspase-8 acts as a molecular rheostat to limit RIPK1- and MyD88-mediated dendritic cell activation. 61
24808358 2014
17
Cellular FLICE-like inhibitory protein secures intestinal epithelial cell survival and immune homeostasis by regulating caspase-8. 61
24036366 2013
18
Th-MYCN mice with caspase-8 deficiency develop advanced neuroblastoma with bone marrow metastasis. 61
23536557 2013
19
Caspase-8 blocks kinase RIPK3-mediated activation of the NLRP3 inflammasome. 61
23260196 2013
20
Mechanisms of necroptosis in T cells. 61
21402742 2011
21
Caspase-8 deficiency in epidermal keratinocytes triggers an inflammatory skin disease. 61
19720838 2009
22
Knockdown of IG20 gene expression renders thyroid cancer cells susceptible to apoptosis. 61
19190106 2009
23
The technological transformation of patient-driven human immunology research. 61
18818883 2009
24
A role for cFLIP in B cell proliferation and stress MAPK regulation. 61
19109151 2009
25
Caspase-8 deficiency facilitates cellular transformation in vitro. 61
18566604 2008
26
Genetic defects of apoptosis and primary immunodeficiency. 61
18424336 2008
27
Bid truncation mediated by caspases-3 and -9 in vinorelbine-induced apoptosis. 61
18297401 2008
28
Role of caspase-8 in hepatocyte response to infection and injury in mice. 61
17385212 2007
29
Partial correction of abnormal cardiac development in caspase-8-deficient mice by cardiomyocyte expression of p 35. 61
16245150 2005
30
Caspase-8 deficiency in T cells leads to a lethal lymphoinfiltrative immune disorder. 61
16157684 2005
31
Volatile anesthetics induce caspase-dependent, mitochondria-mediated apoptosis in human T lymphocytes in vitro. 61
15915027 2005
32
Requirement for caspase-8 in NF-kappaB activation by antigen receptor. 61
15746428 2005
33
Immune disorders caused by defects in the caspase cascade. 61
12906772 2003
34
Targeting the tumor necrosis factor-related apoptosis-inducing ligand path in neuroblastoma. 61
12880973 2003
35
ASC is an activating adaptor for NF-kappa B and caspase-8-dependent apoptosis. 61
12646168 2003
36
Basic and clinical immunology. 61
12618748 2003
37
ER stress induces caspase-8 activation, stimulating cytochrome c release and caspase-9 activation. 61
12581736 2003
Sources

Variations for Caspase 8 Deficiency

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ClinVar genetic disease variations for Caspase 8 Deficiency:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASP8 NC_000002.12:g.(?_201228913)_(201286614_?)deldeletion Pathogenic 659600 2:202093636-202151337 2:201228913-201286614
2 CASP8 NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp)SNV Pathogenic 7760 rs17860424 2:202141631-202141631 2:201276908-201276908
3 CASP8 NC_000002.12:g.(?_201276807)_(201276988_?)dupduplication Likely pathogenic 830621 2:202141530-202141711
4 CASP8 NM_001372051.1(CASP8):c.892A>G (p.Ile298Val)SNV Conflicting interpretations of pathogenicity 533732 rs146286958 2:202149628-202149628 2:201284905-201284905
5 CASP8 NM_001372051.1(CASP8):c.1308C>T (p.Gly436=)SNV Conflicting interpretations of pathogenicity 333508 rs777463099 2:202151185-202151185 2:201286462-201286462
6 CASP8 NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg)SNV Uncertain significance 333500 rs148697064 2:202137392-202137392 2:201272669-201272669
7 CASP8 NM_001228.4(CASP8):c.711+6C>TSNV Uncertain significance 333501 rs370400442 2:202139682-202139682 2:201274959-201274959
8 CASP8 NM_001372051.1(CASP8):c.843C>A (p.Ile281=)SNV Uncertain significance 333503 rs199934929 2:202149579-202149579 2:201284856-201284856
9 CASP8 NM_001372051.1(CASP8):c.*304C>TSNV Uncertain significance 333516 rs886055433 2:202151621-202151621 2:201286898-201286898
10 CASP8 NM_001372051.1(CASP8):c.*591T>CSNV Uncertain significance 333522 rs187758494 2:202151908-202151908 2:201287185-201287185
11 CASP8 NM_001372051.1(CASP8):c.*812T>ASNV Uncertain significance 333524 rs538987233 2:202152129-202152129 2:201287406-201287406
12 CASP8 NM_001372051.1(CASP8):c.*107C>TSNV Uncertain significance 898734 2:202151424-202151424 2:201286701-201286701
13 CASP8 NM_001372051.1(CASP8):c.812C>G (p.Thr271Ser)SNV Uncertain significance 465170 rs1553607264 2:202149548-202149548 2:201284825-201284825
14 CASP8 NM_001372051.1(CASP8):c.159G>C (p.Met53Ile)SNV Uncertain significance 533728 rs200261147 2:202131368-202131368 2:201266645-201266645
15 CASP8 NM_001372051.1(CASP8):c.1001A>G (p.Tyr334Cys)SNV Uncertain significance 533729 rs772661314 2:202149737-202149737 2:201285014-201285014
16 CASP8 NM_001372051.1(CASP8):c.*194T>ASNV Uncertain significance 895768 2:202151511-202151511 2:201286788-201286788
17 CASP8 NM_001372051.1(CASP8):c.*223C>TSNV Uncertain significance 895769 2:202151540-202151540 2:201286817-201286817
18 CASP8 NM_001372051.1(CASP8):c.*266C>GSNV Uncertain significance 895770 2:202151583-202151583 2:201286860-201286860
19 CASP8 NM_001372051.1(CASP8):c.*272A>GSNV Uncertain significance 895771 2:202151589-202151589 2:201286866-201286866
20 CASP8 NM_001372051.1(CASP8):c.*314C>TSNV Uncertain significance 895772 2:202151631-202151631 2:201286908-201286908
21 CASP8 NM_001372051.1(CASP8):c.*346C>TSNV Uncertain significance 896050 2:202151663-202151663 2:201286940-201286940
22 CASP8 NM_001372051.1(CASP8):c.*686C>TSNV Uncertain significance 896051 2:202152003-202152003 2:201287280-201287280
23 CASP8 NM_001372051.1(CASP8):c.*891C>TSNV Uncertain significance 897635 2:202152208-202152208 2:201287485-201287485
24 CASP8 NM_001228.4(CASP8):c.-310A>GSNV Uncertain significance 897519 2:202098159-202098159 2:201233436-201233436
25 CASP8 NM_001372051.1(CASP8):c.432A>G (p.Ile144Met)SNV Uncertain significance 333499 rs149933993 2:202137381-202137381 2:201272658-201272658
26 CASP8 NM_001372051.1(CASP8):c.919A>G (p.Met307Val)SNV Uncertain significance 333504 rs148960588 2:202149655-202149655 2:201284932-201284932
27 CASP8 NM_001228.4(CASP8):c.1355+12C>TSNV Uncertain significance 333507 rs375465590 2:202150052-202150052 2:201285329-201285329
28 CASP8 NM_001372051.1(CASP8):c.*98C>TSNV Uncertain significance 333511 rs36155452 2:202151415-202151415 2:201286692-201286692
29 CASP8 NM_001372051.1(CASP8):c.*316C>TSNV Uncertain significance 333517 rs35419671 2:202151633-202151633 2:201286910-201286910
30 CASP8 NM_001372051.1(CASP8):c.*578C>ASNV Uncertain significance 333521 rs886055434 2:202151895-202151895 2:201287172-201287172
31 CASP8 NM_001372051.1(CASP8):c.1038T>C (p.Pro346=)SNV Uncertain significance 333506 rs768360449 2:202149774-202149774 2:201285051-201285051
32 CASP8 NM_001372051.1(CASP8):c.*124C>TSNV Uncertain significance 333514 rs886055432 2:202151441-202151441 2:201286718-201286718
33 CASP8 NM_001372051.1(CASP8):c.306-1954C>GSNV Uncertain significance 853291 2:202134285-202134285 2:201269562-201269562
34 CASP8 NM_001372051.1(CASP8):c.415C>A (p.Leu139Met)SNV Uncertain significance 856194 2:202137364-202137364 2:201272641-201272641
35 CASP8 NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn)SNV Uncertain significance 845577 2:202141664-202141664 2:201276941-201276941
36 CASP8 NM_001372051.1(CASP8):c.815C>G (p.Thr272Arg)SNV Uncertain significance 841249 2:202149551-202149551 2:201284828-201284828
37 CASP8 NM_001372051.1(CASP8):c.896A>C (p.Tyr299Ser)SNV Uncertain significance 863460 2:202149632-202149632 2:201284909-201284909
38 CASP8 NM_001228.4(CASP8):c.-208A>GSNV Uncertain significance 897520 2:202098261-202098261 2:201233538-201233538
39 CASP8 NM_001228.4(CASP8):c.-117C>ASNV Uncertain significance 897522 2:202098745-202098745 2:201234022-201234022
40 CASP8 NM_001228.4(CASP8):c.-83T>CSNV Uncertain significance 897523 2:202098779-202098779 2:201234056-201234056
41 CASP8 NM_001372051.1(CASP8):c.306-1980C>ASNV Uncertain significance 895689 2:202134259-202134259 2:201269536-201269536
42 CASP8 NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr)SNV Uncertain significance 895690 2:202137401-202137401 2:201272678-201272678
43 CASP8 NM_001372051.1(CASP8):c.469T>C (p.Leu157=)SNV Uncertain significance 895691 2:202137418-202137418 2:201272695-201272695
44 CASP8 NM_001372051.1(CASP8):c.528C>T (p.Asn176=)SNV Uncertain significance 895692 2:202137477-202137477 2:201272754-201272754
45 CASP8 NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp)SNV Uncertain significance 895972 2:202139619-202139619 2:201274896-201274896
46 CASP8 NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln)SNV Uncertain significance 895973 2:202141587-202141587 2:201276864-201276864
47 CASP8 NM_001372051.1(CASP8):c.1012T>G (p.Ser338Ala)SNV Uncertain significance 897577 2:202149748-202149748 2:201285025-201285025
48 CASP8 NM_001372051.1(CASP8):c.802+4C>ASNV Uncertain significance 653865 2:202141695-202141695 2:201276972-201276972
49 CASP8 NM_001228.4(CASP8):c.341A>G (p.Asn114Ser)SNV Uncertain significance 573566 rs1559354162 2:202134268-202134268 2:201269545-201269545
50 CASP8 NM_001372051.1(CASP8):c.1103G>C (p.Gly368Ala)SNV Uncertain significance 576198 rs758525204 2:202149839-202149839 2:201285116-201285116

UniProtKB/Swiss-Prot genetic disease variations for Caspase 8 Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 CASP8 p.Arg248Trp VAR_014204 rs17860424

Sources

Expression for Caspase 8 Deficiency

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Search GEO for disease gene expression data for Caspase 8 Deficiency.
Sources

Pathways for Caspase 8 Deficiency

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Pathways related to Caspase 8 Deficiency according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Apoptotic Pathways in Synovial Fibroblasts 63
Show member pathways
 13.81 TNFRSF1A RIPK1 FASLG FAS FADD CFLAR
2
ERK Signaling 63
Show member pathways
 13.8 TNFRSF1A RIPK1 FASLG FAS FADD COL5A2
3
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.1 TNFRSF1A RIPK1 FASLG FAS FADD CYLD
4
TNFR1 Pathway 63
Show member pathways
 13.08 TNFRSF1A RIPK3 RIPK1 FASLG FAS FADD
5
PI3K-Akt signaling pathway 36
Show member pathways
 12.92 TNFRSF1A FASLG FAS FADD CASP8
6
Human cytomegalovirus infection 36
Show member pathways
 12.92 TNFRSF1A RIPK1 FASLG FAS FADD CASP8
7
Measles 36
Show member pathways
 12.83 TNFRSF1A RIPK1 FASLG FAS FADD CASP8
8
Allograft rejection 1 36
Show member pathways
 12.82 FASLG FAS FADD COL5A1 CASP8
9
Apoptotic execution phase 65
Show member pathways
 12.82 RIPK3 RIPK1 MLKL FASLG FAS FADD
10
Herpes simplex virus 1 infection 36
12.76 TNFRSF1A FASLG FAS FADD CASP8
11
Chks in Checkpoint Regulation 63
Show member pathways
 12.74 RIPK1 FASLG FAS FADD CFLAR CASP8
12
MAPK signaling pathway 36 1
12.73 TNFRSF1A FASLG FAS CASP8 CASP1
13
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.71 TNFRSF1A FASLG FAS FADD CASP8 CASP10
14
Apoptosis Modulation and Signaling 1
Show member pathways
 12.71 TNFRSF1A RIPK1 FASLG FAS FADD CFLAR
15
NF-kappaB Signaling 4
12.59 TNFRSF1A RIPK3 RIPK1 FASLG FAS CYLD
16
TRAF Pathway 63
Show member pathways
 12.59 TNFRSF1A RIPK1 FASLG FAS FADD CASP8
17
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways 65
Show member pathways
 12.54 RIPK1 FADD CYLD CASP8 CASP10
18
Salmonella infection (KEGG) 36
12.35 TNFRSF1A RIPK3 RIPK1 MLKL FADD CASP8
19
TNF signaling 65
Show member pathways
 12.35 TNFRSF1A RIPK1 FASLG FAS FADD CYLD
20
Pathogenic Escherichia coli infection 36
12.3 TNFRSF1A RIPK1 FASLG FAS FADD CASP8
21
p53 Signaling 63
Show member pathways
 12.28 FASLG FAS CASP8 CASP10 CASP1
22
CASP8 activity is inhibited 65
Show member pathways
 12.28 RIPK3 RIPK1 MLKL FASLG FAS FADD
23
NOD-like receptor signaling pathway 36
12.26 RIPK3 RIPK1 FADD CASP8 CASP1
24
Tuberculosis 36
12.22 TNFRSF1A FADD CASP8 CASP10
25
Apoptosis and survival Caspase cascade 22
Show member pathways
 12.17 TNFRSF1A RIPK1 FASLG FAS FADD CFLAR
26
Alzheimers Disease 1
12.12 TNFRSF1A FAS FADD CASP8
27
Ceramide Pathway 63
Show member pathways
 12.09 TNFRSF1A RIPK1 FADD CASP8 CASP10 CASP1
28
NF-kappa B signaling pathway 36
11.95 TNFRSF1A RIPK1 CYLD CFLAR
29
NF-kB(NFkB) Pathway 66
11.93 TNFRSF1A RIPK1 FADD CYLD
30
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 65
Show member pathways
 11.92 CYLD CASP8 CASP1
31
Apoptosis and Autophagy 4
11.92 TNFRSF1A RIPK3 RIPK1 MLKL FASLG FAS
32
TNF signaling pathway 36
11.9 TNFRSF1A RIPK3 RIPK1 PGAM5 MLKL FAS
33
TP53 Regulates Transcription of Cell Death Genes 65
Show member pathways
 11.89 FAS CASP10 CASP1
34
Nanomaterial induced apoptosis 1
Show member pathways
 11.87 TNFRSF1A RIPK1 FASLG FAS FADD CFLAR
35
Platinum drug resistance 36
11.78 FASLG FAS FADD CASP8
36
TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.77 TNFRSF1A FASLG FAS
37
Necroptosis 36
Show member pathways
 11.63 TNFRSF1A RIPK3 RIPK1 PGAM5 MLKL FASLG
38
Photodynamic therapy-induced AP-1 survival signaling. 1
11.6 TNFRSF1A FASLG FAS CFLAR
39
Ceramide signaling pathway 1
11.52 TNFRSF1A RIPK1 FADD CASP8
40
all-trans-Retinoic Acid Mediated Apoptosis 63
11.51 FADD CFLAR CASP8
41
Signal transduction_JNK pathway 22
11.47 TNFRSF1A FASLG FAS
42
Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins 22
Show member pathways
 11.4 TNFRSF1A FAS CASP8
43
IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 11.37 TNFRSF1A FASLG FAS
Sources

GO Terms for Caspase 8 Deficiency

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Cellular components related to Caspase 8 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.8 TNFRSF1A RIPK1 FASLG FAS FADD CFLAR
2 death-inducing signaling complex GO:0031264 9.55 RIPK1 FAS FADD CFLAR CASP8
3 ripoptosome GO:0097342 9.35 RIPK1 FADD CFLAR CASP8 CASP10
4 collagen type V trimer GO:0005588 9.32 COL5A2 COL5A1
5 CD95 death-inducing signaling complex GO:0031265 9.02 FAS FADD CFLAR CASP8 CASP10

Biological processes related to Caspase 8 Deficiency according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 10.15 TNFRSF1A RIPK1 FASLG FAS FADD CFLAR
2 proteolysis GO:0006508 10.11 PCSK1 CYLD CFLAR CASP8 CASP10 CASP1
3 viral process GO:0016032 10.07 TNFRSF1A RIPK1 FADD CFLAR CASP8
4 cell surface receptor signaling pathway GO:0007166 10.03 TNFRSF1A MLKL FADD CASP8 CASP10
5 regulation of apoptotic process GO:0042981 10.03 FAS FADD CFLAR CASP8 CASP10 CASP1
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.01 TNFRSF1A RIPK1 FASLG FADD CFLAR CASP8
7 tumor necrosis factor-mediated signaling pathway GO:0033209 9.92 TNFRSF1A RIPK1 FASLG FAS
8 cellular response to mechanical stimulus GO:0071260 9.92 TNFRSF1A FAS FADD CASP8 CASP1
9 extrinsic apoptotic signaling pathway GO:0097191 9.88 RIPK1 FASLG FAS FADD CASP8
10 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.85 TNFRSF1A FASLG FADD CASP8
11 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.85 RIPK1 FASLG FAS FADD CFLAR CASP8
12 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.84 TNFRSF1A RIPK1 CYLD CASP8
13 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.83 TNFRSF1A RIPK3 RIPK1
14 programmed cell death GO:0012501 9.81 RIPK3 RIPK1 PGAM5 MLKL
15 necroptotic process GO:0070266 9.8 RIPK3 RIPK1 PGAM5 MLKL FASLG CYLD
16 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.79 RIPK1 FADD CASP8
17 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.78 RIPK1 FADD CYLD
18 negative regulation of necroptotic process GO:0060546 9.76 FADD CFLAR CASP8
19 death-inducing signaling complex assembly GO:0071550 9.76 TNFRSF1A RIPK1 FADD CASP8
20 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.76 RIPK1 FASLG FAS FADD CFLAR CASP8
21 positive regulation of macrophage differentiation GO:0045651 9.75 RIPK1 FADD CASP8
22 toll-like receptor 3 signaling pathway GO:0034138 9.74 RIPK1 FADD CASP8
23 regulation of necroptotic process GO:0060544 9.73 FADD CYLD CFLAR CASP8
24 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.73 RIPK1 FASLG FAS FADD CFLAR CASP8
25 positive regulation of proteolysis GO:0045862 9.68 FADD CASP8
26 positive regulation of interleukin-1 beta production GO:0032731 9.68 CASP8 CASP1
27 lymph node development GO:0048535 9.68 RIPK3 FADD
28 activation of cysteine-type endopeptidase activity GO:0097202 9.68 FADD CASP8
29 amyloid fibril formation GO:1990000 9.67 RIPK3 RIPK1
30 positive regulation of tumor necrosis factor-mediated signaling pathway GO:1903265 9.67 RIPK1 CASP1
31 positive regulation of necrotic cell death GO:0010940 9.66 RIPK3 RIPK1
32 T cell apoptotic process GO:0070231 9.65 RIPK1 FASLG
33 positive regulation of necroptotic process GO:0060545 9.65 RIPK3 RIPK1
34 TRAIL-activated apoptotic signaling pathway GO:0036462 9.65 FADD CASP8
35 programmed necrotic cell death GO:0097300 9.64 RIPK3 RIPK1
36 motor neuron apoptotic process GO:0097049 9.63 FAS FADD
37 eye morphogenesis GO:0048592 9.62 COL5A2 COL5A1
38 negative regulation of endodermal cell differentiation GO:1903225 9.6 COL5A2 COL5A1
39 ripoptosome assembly involved in necroptotic process GO:1901026 9.59 RIPK1 CYLD
40 necroptotic signaling pathway GO:0097527 9.43 RIPK3 RIPK1 MLKL FASLG FAS FADD
41 apoptotic signaling pathway GO:0097190 9.28 RIPK3 RIPK1 FASLG FAS FADD CFLAR

Molecular functions related to Caspase 8 Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.05 RIPK3 RIPK1 PCSK1 FAS FADD CASP8
2 peptidase activity GO:0008233 9.92 PCSK1 CYLD CASP8 CASP10 CASP1
3 protein-containing complex binding GO:0044877 9.91 RIPK3 RIPK1 PGAM5 MLKL FADD CFLAR
4 cysteine-type peptidase activity GO:0008234 9.8 CYLD CFLAR CASP8 CASP10 CASP1
5 cysteine-type endopeptidase activity GO:0004197 9.73 CFLAR CASP8 CASP10 CASP1
6 tumor necrosis factor receptor binding GO:0005164 9.63 FASLG FADD CASP8
7 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.56 CFLAR CASP8 CASP10 CASP1
8 death effector domain binding GO:0035877 9.5 FADD CASP8 CASP10
9 tumor necrosis factor-activated receptor activity GO:0005031 9.49 TNFRSF1A FAS
10 JUN kinase kinase kinase activity GO:0004706 9.48 RIPK1 MLKL
11 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.46 CFLAR CASP8 CASP10 CASP1
12 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.26 CFLAR CASP8 CASP10 CASP1
13 death receptor binding GO:0005123 9.02 RIPK1 FASLG FADD CFLAR CASP8
Sources

Sources for Caspase 8 Deficiency

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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