CASP8D
MCID: CSP005
MIFTS: 56

Caspase 8 Deficiency (CASP8D)

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

Aliases & Classifications for Caspase 8 Deficiency

MalaCards integrated aliases for Caspase 8 Deficiency:

Name: Caspase 8 Deficiency 57 12 20
Autoimmune Lymphoproliferative Syndrome Type 2b 12 20 29 6 15 70
Caspase-8 Deficiency 20 72 39
Alps2b 57 12 20
Ceds 57 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 57
Autoimmune Lymphoproliferative Syndrome, Type Iib 57
Autoimmune Lymphoproliferative Syndrome Type Iib 12
Caspase Eight Deficiency State 12
Casp8d 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
caspase 8 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0110116
OMIM® 57 607271
ICD10 32 D47.9
ICD10 via Orphanet 33 D47.9
UMLS via Orphanet 71 C1846545
Orphanet 58 ORPHA275517
MedGen 41 C1846545
UMLS 70 C1846545

Summaries for Caspase 8 Deficiency

UniProtKB/Swiss-Prot : 72 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 hypermobile ehlers-danlos syndrome. An important gene associated with Caspase 8 Deficiency is CASP8 (Caspase 8), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. The drugs Pembrolizumab and Panobinostat have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are failure to thrive and splenomegaly

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

OMIM® : 57 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) (Updated 05-Apr-2021)

Wikipedia : 73 Caspase-8 deficiency (CEDS) is a very rare genetic disorder of the immune system. It is caused by... more...

Related Diseases for Caspase 8 Deficiency

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 classic ehlers-danlos syndrome 31.4 COL5A2 COL5A1
2 hypermobile ehlers-danlos syndrome 29.6 PLOD1 FKBP14 COL5A2 COL5A1
3 ehlers-danlos syndrome 29.6 PLOD1 FKBP14 COL5A2 COL5A1
4 lymphoproliferative syndrome 29.5 FASLG FAS FADD CASP8 CASP10
5 autoimmune lymphoproliferative syndrome 28.5 RIPK3 RIPK1 MLKL FASLG FAS FADD
6 zika virus congenital syndrome 10.3 RIPK3 RIPK1
7 tendinopathy 10.3 COL5A1 CASP8
8 post-transplant lymphoproliferative disease 10.2 FADD CASP8
9 cutaneous diphtheria 10.2 RIPK1 PCSK1
10 ehlers-danlos syndrome, classic type, 2 10.1 COL5A2 COL5A1
11 kyphoscoliotic ehlers-danlos syndrome 10.1 PLOD1 FKBP14
12 hypermobility syndrome 10.0 COL5A2 COL5A1
13 hypomelanosis of ito 10.0 PLOD1 COL5A1
14 clubfoot 10.0 COL5A1 CASP8 CASP10
15 lymphocytic gastritis 10.0 FASLG FAS
16 pulmonary hypertension 9.9
17 nk cell deficiency 9.9
18 skin disease 9.9
19 neuroblastoma 9.9
20 splenomegaly 9.9
21 orthostatic intolerance 9.9 PLOD1 COL5A2 COL5A1
22 pneumoconiosis 9.9 FASLG FAS CASP8
23 collagen disease 9.7 PLOD1 FKBP14 COL5A2 COL5A1
24 loeys-dietz syndrome 9.7 PLOD1 FKBP14 COL5A2 COL5A1
25 cowpox 9.7 FAS CASP8 CASP1
26 colon adenocarcinoma 9.7 FASLG FAS CFLAR CASP8
27 brittle bone disorder 9.6 PLOD1 COL5A2 COL5A1
28 silicosis 9.6 FASLG FAS CASP1
29 cardiomyopathy, familial hypertrophic, 1 9.6 FAS CASP8 CASP10 CASP1
30 hemolytic anemia 9.5 RHCE FASLG FAS CASP10
31 hypersensitivity reaction type iv disease 9.5 RIPK3 FASLG FAS FADD CASP8 CASP10

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



Diseases related to Caspase 8 Deficiency

Symptoms & Phenotypes for Caspase 8 Deficiency

Human phenotypes related to Caspase 8 Deficiency:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 splenomegaly 31 very rare (1%) HP:0001744
3 short stature 31 very rare (1%) HP:0004322
4 asthma 31 very rare (1%) HP:0002099
5 chronic diarrhea 31 very rare (1%) HP:0002028
6 eczema 31 very rare (1%) HP:0000964
7 pneumonia 31 very rare (1%) HP:0002090
8 lymphadenopathy 31 very rare (1%) HP:0002716
9 recurrent sinopulmonary infections 31 very rare (1%) HP:0005425
10 decreased circulating iga level 31 very rare (1%) HP:0002720
11 decreased circulating igg level 31 very rare (1%) HP:0004315
12 decreased circulating total igm 31 very rare (1%) HP:0002850
13 recurrent herpes 31 very rare (1%) HP:0005353
14 decreased t cell activation 31 very rare (1%) HP:0005419
15 decreased cd4:cd8 ratio 31 very rare (1%) HP:0033222
16 defective b cell activation 31 very rare (1%) HP:0005384
17 reduced cd95-induced lymphocyte apoptosis 31 very rare (1%) HP:0033278
18 complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine 31 very rare (1%) HP:0410300

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Skin Nails Hair Skin:
eczema

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

Respiratory Airways:
asthma
reactive airway disease

Respiratory Lung:
pneumonia

Abdomen Gastrointestinal:
diarrhea, chronic

Clinical features from OMIM®:

607271 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.5 CASP1 COL5A1 COL5A2 FADD FAS FASLG
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.32 CFLAR FADD FAS RIPK1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 CASP1 CFLAR FADD FAS RIPK1
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.32 CASP8

MGI Mouse Phenotypes related to Caspase 8 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 CASP1 CASP8 CFLAR COL5A1 COL5A2 FADD
2 cellular MP:0005384 10.1 CASP1 CASP8 CFLAR FADD FAS FASLG
3 hematopoietic system MP:0005397 10 CASP1 CASP8 CFLAR FADD FAS FASLG
4 endocrine/exocrine gland MP:0005379 9.97 CASP1 CASP8 CFLAR FADD FAS FASLG
5 digestive/alimentary MP:0005381 9.91 CASP1 FADD FAS FASLG PCSK1 RIPK1
6 immune system MP:0005387 9.9 CASP1 CASP8 CFLAR FADD FAS FASLG
7 integument MP:0010771 9.61 CASP1 CASP8 COL5A1 COL5A2 FAS FASLG
8 mortality/aging MP:0010768 9.47 CASP1 CASP8 CFLAR COL5A1 COL5A2 FADD

Drugs & Therapeutics for Caspase 8 Deficiency

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 2 1374853-91-4
2
Panobinostat Approved, Investigational Phase 1, Phase 2 404950-80-7 6918837
3 Antirheumatic Agents Phase 2
4 Adjuvants, Immunologic Phase 2
5 Interleukin-4 Phase 2
6 Antineoplastic Agents, Immunological Phase 2
7 Histone Deacetylase Inhibitors Phase 1, Phase 2
8
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
9
Iodine Approved, Investigational Phase 1 7553-56-2 807
10
Irinotecan Approved, Investigational Phase 1 100286-90-6, 97682-44-5 60838
11
Pentetic acid Approved Phase 1 67-43-6
12
Edetic Acid Approved, Vet_approved Phase 1 62-33-9, 60-00-4 6049
13
Cadexomer iodine Experimental Phase 1 94820-09-4
14 Alkylating Agents Phase 1
15 Anesthetics Phase 1
16 Immunologic Factors Phase 1
17 topoisomerase I inhibitors Phase 1
18 Antibodies Phase 1
19 Immunoglobulins Phase 1
20 Antibodies, Monoclonal Phase 1
21 Calamus Phase 1
22 Vaccines Phase 1
23 Pharmaceutical Solutions Phase 1
24
Diethylenetriamine Phase 1 111-40-0 8111
25
tannic acid Approved 1401-55-4
26
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
27
Infliximab Approved 170277-31-3
28 Dermatologic Agents
29 Gastrointestinal Agents

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 An Open-Label Non-Randomized, Multi-Center Phase-2 Study of Convection-Enhanced Delivery (CED) of MDNA55 in Adults With Recurrent or Progressive Glioblastoma Completed NCT02858895 Phase 2 MDNA55
2 A Placebo-Controlled, Randomised, Double-Blind Trial to Assess the Safety and Efficacy of Intermittent Bilateral Intraputamenal (GDNF) Infusions Administered Via Convection Enhanced Delivery (CED) in Subjects With Parkinson&Apos;s Disease Completed NCT03652363 Phase 2 glial cell line-derived neurotrophic factor
3 A Phase 2, Open-label, Single-arm Study Evaluating the Efficacy, Safety and Tolerability of PVSRIPO and the Immune Checkpoint Inhibitor Pembrolizumab in the Treatment of Patients With Recurrent Glioblastoma Recruiting NCT04479241 Phase 2
4 An Open Label Single Arm Phase I/II Study of MTX110 Delivered by Convection-enhanced Delivery (CED) in Patients With Diffuse Intrinsic Pontine Glioma (DIPG) Previously Treated With External Beam Radiation Therapy Active, not recruiting NCT03566199 Phase 1, Phase 2 Panobinostat Nanoparticle Formulation MTX110;Convection-Enhanced Delivery (CED)
5 Phase II, Multi-center, Open-Label, Single-Arm Study of Intratumoral Infusion of PRX321 in Subjects With Glioblastoma Multiforme at First Recurrence or Progression Withdrawn NCT00797940 Phase 2 IL-4PE
6 Phase I Study of Convection Enhanced Delivery (CED) of IL13-PE38QQR Infusion After Resection Followed by Radiation Therapy With or Without Temozolomide in Patients With Newly Diagnosed Supratentorial Malignant Glioma Completed NCT00089427 Phase 1 IL13-PE38QQR;Temozolomide with radiation therapy
7 A Phase I Study Examining the Feasibility of Intermittent Convection-Enhanced Delivery (CED) of MTX110 for the Treatment of Children With Newly Diagnosed Diffuse Midline Gliomas Recruiting NCT04264143 Phase 1 Infusate with MTX110 and gadolinium
8 A Phase I Study of Convection-Enhanced Delivery of 124I-Omburtamab for Patients With Non-Progressive Diffuse Pontine Gliomas Previously Treated With External Beam Radiation Therapy Recruiting NCT01502917 Phase 1 Radioactive iodine-labeled monoclonal antibody omburtamab
9 A Phase I and Early Efficacy Study of Convection Enhanced Delivery of Irinotecan Liposome Injection Using Real Time Imaging With Gadolinium in Children With Diffuse Intrinsic Pontine Glioma Recruiting NCT03086616 Phase 1 Convection Enhanced Delivery (CED) of Nanoliposomal irinotecan (nal-IRI)
10 Phase Ib Study of Oncolytic Polio/Rhinovirus Recombinant Against Recurrent Malignant Glioma in Children Recruiting NCT03043391 Phase 1
11 A Phase 1 Open-Label Dose Escalation Safety Study of Convection Enhanced Delivery (CED) of Adeno-Associated Virus Encoding Glial Cell Line-Derived Neurotrophic Factor (AAV2-GDNF) in Subjects With Advanced Parkinson's Disease Active, not recruiting NCT01621581 Phase 1
12 A Dose Escalation Phase I Study Of Human- Recombinant Bone Morphogenetic Protein 4 Administrated Via Convection-Enhanced Delivery In Patients With Progressive And/Or Multiple Recurrent Glioblastoma Multiforme Active, not recruiting NCT02869243 Phase 1 hrBMP4
13 A Phase I Trial of Carboplatin Administered by Convection-Enhanced Delivery to Patients With Recurrent/Progressive Glioblastoma Multiforme Withdrawn NCT01317212 Phase 1 Peritumoural carboplatin administration.
14 Verbessertes Therapiemanagement für pädiatrische CED-Patienten Mit Chronisch-entzündlicher Darmerkrankung: Eine Randomisierte Multizentrische Studie, Welche Die Effektivität Einer Talspiegel-gesteuerten Infliximab-Erhaltungsphase Mit Dem herkömmlichen Dosierungsregime Vergleicht Trough Level Optimized Pediatric Inflammatory Bowel Disease Therapy: A Randomized Multicenter Study Comparing Effectiveness of Trough Level Optimized Infliximab Maintenance Therapy With Standard Dosing Regimen of Pediatric Patients With Crohn's Disease Unknown status NCT02522169 Infliximab
15 Assessment of Duodenal Epithelial Integrity in Celiac Disease With Mucosal Impedance Completed NCT03152279
16 A Pilot Trial of Intraparenchymally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive WHO Grade III or IV (High Grade) Glioma Requiring Stereotactic Biopsy Completed NCT02278510 Early Phase 1 Topotecan;Gadolinium DTPA
17 Kids + Adolescents Research Learning On Tablet Teaching Aachen Recruiting NCT03833778
18 A Study of Intratumorally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive World Health Organization (WHO) Grade III or IV (High Grade) Glioma Undergoing Stereotactic Biopsy Recruiting NCT03927274 Early Phase 1 Topotecan
19 Expanded Access Protocol for the Treatment of Glioblastoma With PVSRIPO Available NCT04599647
20 A Pilot Trial of Intraparenchymally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive WHO Grade III or IV (High Grade) Glioma Undergoing A Clinically-Indicated Surgical Resection (IND 117,240) Terminated NCT02500459 Early Phase 1 topotecan
21 Pilot Trial of Intratumorally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive World Health Organization (WHO) Grade III or IV (High Grade) Glioma Undergoing Stereotactic Biopsy (IND 117,240) Withdrawn NCT03193463 Early Phase 1 Topotecan (<=8cc);Topotecan (>8cc);Lower Does Topotecan

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Genetic Tests for Caspase 8 Deficiency

Genetic tests related to Caspase 8 Deficiency:

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

Anatomical Context for Caspase 8 Deficiency

MalaCards organs/tissues related to Caspase 8 Deficiency:

40
T Cells, Bone, Bone Marrow, Thyroid, Skin

Publications for Caspase 8 Deficiency

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. 61 57 6
12353035 2002
2
Advances in autoimmune lymphoproliferative syndromes. 57
21447005 2011
3
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). 57
19930184 2010
4
Somatic mutations--not just for cancer anymore. 57
15459299 2004
5
Smac mimetics can provoke lytic cell death that is neither apoptotic nor necroptotic. 61
32440848 2020
6
FADD and Caspase-8 Regulate Gut Homeostasis and Inflammation by Controlling MLKL- and GSDMD-Mediated Death of Intestinal Epithelial Cells. 61
32362323 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

Variations for Caspase 8 Deficiency

ClinVar genetic disease variations for Caspase 8 Deficiency:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASP8 NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) SNV Pathogenic 7760 rs17860424 GRCh37: 2:202141631-202141631
GRCh38: 2:201276908-201276908
2 overlap with 2 genes NC_000002.12:g.(?_201228913)_(201286614_?)del Deletion Pathogenic 659600 GRCh37: 2:202093636-202151337
GRCh38: 2:201228913-201286614
3 CASP8 NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter) SNV Pathogenic 946113 GRCh37: 2:202131411-202131411
GRCh38: 2:201266688-201266688
4 CASP8 NM_001372051.1(CASP8):c.306-1949_306-1947delinsC Indel Pathogenic 968654 GRCh37: 2:202134290-202134292
GRCh38: 2:201269567-201269569
5 CASP8 NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter) SNV Pathogenic 973624 GRCh37: 2:202150039-202150039
GRCh38: 2:201285316-201285316
6 CASP8 NC_000002.12:g.(?_201276807)_(201276988_?)dup Duplication Likely pathogenic 830621 GRCh37: 2:202141530-202141711
GRCh38:
7 CASP8 NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) SNV Conflicting interpretations of pathogenicity 533732 rs146286958 GRCh37: 2:202149628-202149628
GRCh38: 2:201284905-201284905
8 CASP8 NM_001372051.1(CASP8):c.286G>T (p.Ala96Ser) SNV Uncertain significance 571008 rs762297913 GRCh37: 2:202131495-202131495
GRCh38: 2:201266772-201266772
9 CASP8 NM_001228.4(CASP8):c.341A>G (p.Asn114Ser) SNV Uncertain significance 573566 rs1559354162 GRCh37: 2:202134268-202134268
GRCh38: 2:201269545-201269545
10 CASP8 NM_001372051.1(CASP8):c.1103G>C (p.Gly368Ala) SNV Uncertain significance 576198 rs758525204 GRCh37: 2:202149839-202149839
GRCh38: 2:201285116-201285116
11 CASP8 NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) SNV Uncertain significance 631840 rs747862347 GRCh37: 2:202149901-202149901
GRCh38: 2:201285178-201285178
12 CASP8 NM_001372051.1(CASP8):c.761T>G (p.Leu254Arg) SNV Uncertain significance 639795 rs1576347035 GRCh37: 2:202141650-202141650
GRCh38: 2:201276927-201276927
13 CASP8 NM_001372051.1(CASP8):c.701G>A (p.Gly234Glu) SNV Uncertain significance 642198 rs1390728717 GRCh37: 2:202141590-202141590
GRCh38: 2:201276867-201276867
14 CASP8 NM_001372051.1(CASP8):c.1310A>T (p.Asp437Val) SNV Uncertain significance 648682 rs561729612 GRCh37: 2:202151187-202151187
GRCh38: 2:201286464-201286464
15 CASP8 NM_001372051.1(CASP8):c.802+4C>A SNV Uncertain significance 653865 rs746813867 GRCh37: 2:202141695-202141695
GRCh38: 2:201276972-201276972
16 CASP8 NM_001372051.1(CASP8):c.778A>G (p.Arg260Gly) SNV Uncertain significance 654340 rs1350639573 GRCh37: 2:202141667-202141667
GRCh38: 2:201276944-201276944
17 CASP8 NM_001372051.1(CASP8):c.*124C>T SNV Uncertain significance 333514 rs886055432 GRCh37: 2:202151441-202151441
GRCh38: 2:201286718-201286718
18 CASP8 NM_001372051.1(CASP8):c.*304C>T SNV Uncertain significance 333516 rs886055433 GRCh37: 2:202151621-202151621
GRCh38: 2:201286898-201286898
19 CASP8 NM_001372051.1(CASP8):c.843C>A (p.Ile281=) SNV Uncertain significance 333503 rs199934929 GRCh37: 2:202149579-202149579
GRCh38: 2:201284856-201284856
20 CASP8 NM_001372051.1(CASP8):c.812C>G (p.Thr271Ser) SNV Uncertain significance 465170 rs1553607264 GRCh37: 2:202149548-202149548
GRCh38: 2:201284825-201284825
21 CASP8 NM_001372051.1(CASP8):c.1001A>G (p.Tyr334Cys) SNV Uncertain significance 533729 rs772661314 GRCh37: 2:202149737-202149737
GRCh38: 2:201285014-201285014
22 CASP8 NM_001372051.1(CASP8):c.*98C>T SNV Uncertain significance 333511 rs36155452 GRCh37: 2:202151415-202151415
GRCh38: 2:201286692-201286692
23 CASP8 NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) SNV Uncertain significance 333508 rs777463099 GRCh37: 2:202151185-202151185
GRCh38: 2:201286462-201286462
24 CASP8 NM_001372051.1(CASP8):c.*316C>T SNV Uncertain significance 333517 rs35419671 GRCh37: 2:202151633-202151633
GRCh38: 2:201286910-201286910
25 CASP8 NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) SNV Uncertain significance 333506 rs768360449 GRCh37: 2:202149774-202149774
GRCh38: 2:201285051-201285051
26 CASP8 NM_001372051.1(CASP8):c.*578C>A SNV Uncertain significance 333521 rs886055434 GRCh37: 2:202151895-202151895
GRCh38: 2:201287172-201287172
27 CASP8 NM_001372051.1(CASP8):c.*812T>A SNV Uncertain significance 333524 rs538987233 GRCh37: 2:202152129-202152129
GRCh38: 2:201287406-201287406
28 CASP8 NM_001228.4(CASP8):c.1355+12C>T SNV Uncertain significance 333507 rs375465590 GRCh37: 2:202150052-202150052
GRCh38: 2:201285329-201285329
29 CASP8 NM_001372051.1(CASP8):c.815C>G (p.Thr272Arg) SNV Uncertain significance 841249 GRCh37: 2:202149551-202149551
GRCh38: 2:201284828-201284828
30 CASP8 NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn) SNV Uncertain significance 845577 GRCh37: 2:202141664-202141664
GRCh38: 2:201276941-201276941
31 CASP8 NM_001372051.1(CASP8):c.306-1954C>G SNV Uncertain significance 853291 GRCh37: 2:202134285-202134285
GRCh38: 2:201269562-201269562
32 CASP8 NM_001372051.1(CASP8):c.415C>A (p.Leu139Met) SNV Uncertain significance 856194 GRCh37: 2:202137364-202137364
GRCh38: 2:201272641-201272641
33 CASP8 NM_001372051.1(CASP8):c.306-1980C>A SNV Uncertain significance 895689 GRCh37: 2:202134259-202134259
GRCh38: 2:201269536-201269536
34 CASP8 NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr) SNV Uncertain significance 895690 GRCh37: 2:202137401-202137401
GRCh38: 2:201272678-201272678
35 CASP8 NM_001372051.1(CASP8):c.469T>C (p.Leu157=) SNV Uncertain significance 895691 GRCh37: 2:202137418-202137418
GRCh38: 2:201272695-201272695
36 CASP8 NM_001372051.1(CASP8):c.528C>T (p.Asn176=) SNV Uncertain significance 895692 GRCh37: 2:202137477-202137477
GRCh38: 2:201272754-201272754
37 CASP8 NM_001372051.1(CASP8):c.*194T>A SNV Uncertain significance 895768 GRCh37: 2:202151511-202151511
GRCh38: 2:201286788-201286788
38 CASP8 NM_001372051.1(CASP8):c.*223C>T SNV Uncertain significance 895769 GRCh37: 2:202151540-202151540
GRCh38: 2:201286817-201286817
39 CASP8 NM_001372051.1(CASP8):c.*266C>G SNV Uncertain significance 895770 GRCh37: 2:202151583-202151583
GRCh38: 2:201286860-201286860
40 CASP8 NM_001372051.1(CASP8):c.*272A>G SNV Uncertain significance 895771 GRCh37: 2:202151589-202151589
GRCh38: 2:201286866-201286866
41 CASP8 NM_001372051.1(CASP8):c.*314C>T SNV Uncertain significance 895772 GRCh37: 2:202151631-202151631
GRCh38: 2:201286908-201286908
42 CASP8 NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp) SNV Uncertain significance 895972 GRCh37: 2:202139619-202139619
GRCh38: 2:201274896-201274896
43 CASP8 NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln) SNV Uncertain significance 895973 GRCh37: 2:202141587-202141587
GRCh38: 2:201276864-201276864
44 CASP8 NM_001372051.1(CASP8):c.*346C>T SNV Uncertain significance 896050 GRCh37: 2:202151663-202151663
GRCh38: 2:201286940-201286940
45 CASP8 NM_001372051.1(CASP8):c.*686C>T SNV Uncertain significance 896051 GRCh37: 2:202152003-202152003
GRCh38: 2:201287280-201287280
46 CASP8 NM_001228.4(CASP8):c.-310A>G SNV Uncertain significance 897519 GRCh37: 2:202098159-202098159
GRCh38: 2:201233436-201233436
47 CASP8 NM_001228.4(CASP8):c.-208A>G SNV Uncertain significance 897520 GRCh37: 2:202098261-202098261
GRCh38: 2:201233538-201233538
48 CASP8 NM_001372051.1(CASP8):c.519G>C (p.Lys173Asn) SNV Uncertain significance 662887 rs1268336616 GRCh37: 2:202137468-202137468
GRCh38: 2:201272745-201272745
49 CASP8 NM_001372051.1(CASP8):c.397C>G (p.Leu133Val) SNV Uncertain significance 666039 rs1576325415 GRCh37: 2:202136330-202136330
GRCh38: 2:201271607-201271607
50 CASP8 NM_001228.4(CASP8):c.-117C>A SNV Uncertain significance 897522 GRCh37: 2:202098745-202098745
GRCh38: 2:201234022-201234022

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

72
# Symbol AA change Variation ID SNP ID
1 CASP8 p.Arg248Trp VAR_014204 rs17860424

Expression for Caspase 8 Deficiency

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

Pathways for Caspase 8 Deficiency

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

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 RIPK1 FASLG FAS FADD COL5A2 COL5A1
2
Show member pathways
13.73 RIPK1 FASLG FAS FADD CFLAR CASP8
3
Show member pathways
13.13 RIPK1 FASLG FAS FADD CFLAR CASP8
4
Show member pathways
13.04 RIPK3 RIPK1 FASLG FAS FADD CFLAR
5
Show member pathways
12.82 RIPK1 FASLG FAS FADD CASP8
6
Show member pathways
12.77 RIPK1 FASLG FAS FADD CASP8 CASP1
7
Show member pathways
12.76 FASLG FAS FADD COL5A1 CASP8
8
Show member pathways
12.71 RIPK3 RIPK1 MLKL FASLG FAS FADD
9
Show member pathways
12.69 RIPK1 FASLG FAS FADD CFLAR CASP8
10
Show member pathways
12.66 RIPK1 FASLG FAS FADD CFLAR CASP8
11
Show member pathways
12.64 FASLG FAS FADD CASP8 CASP10 CASP1
12
Show member pathways
12.57 RIPK1 FASLG FAS FADD CASP8 CASP10
13 12.45 RIPK3 RIPK1 FASLG FAS
14
Show member pathways
12.43 RIPK1 FADD CASP8 CASP10
15
Show member pathways
12.28 RIPK1 FASLG FAS FADD CFLAR CASP8
16
Show member pathways
12.23 FASLG FAS CASP8 CASP10 CASP1
17
Show member pathways
12.22 RIPK3 RIPK1 MLKL FASLG FAS FADD
18 12.2 RIPK3 RIPK1 FADD CASP8 CASP1
19
Show member pathways
12.18 RIPK1 FASLG FAS FADD CFLAR CASP8
20 12.08 RIPK3 RIPK1 MLKL FASLG FAS FADD
21 12.01 FAS FADD CASP8
22
Show member pathways
12.01 RIPK1 FADD CASP8 CASP10 CASP1
23 11.98 CASP8 CASP10 CASP1
24 11.94 FAS CASP10 CASP1
25
Show member pathways
11.83 FAS CASP10 CASP1
26 11.82 CASP8 CASP10 CASP1
27
Show member pathways
11.76 RIPK1 FASLG FAS FADD CFLAR CASP8
28 11.74 FASLG FAS FADD CASP8
29 11.66 RIPK3 RIPK1 PGAM5 MLKL FAS FADD
30
Show member pathways
11.55 RIPK3 RIPK1 PGAM5 MLKL FASLG FAS
31 11.49 FASLG FAS CFLAR
32 11.45 FADD CFLAR CASP8
33 11.41 RIPK1 FADD CASP8
34 11.03 RIPK3 RIPK1

GO Terms for Caspase 8 Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.77 RIPK3 RIPK1 FADD CASP8 CASP1
2 membrane raft GO:0045121 9.73 RIPK1 FASLG FAS FADD CFLAR CASP8
3 death-inducing signaling complex GO:0031264 9.55 RIPK1 FAS FADD CFLAR CASP8
4 ripoptosome GO:0097342 9.35 RIPK1 FADD CFLAR CASP8 CASP10
5 collagen type V trimer GO:0005588 9.32 COL5A2 COL5A1
6 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 39)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 10.11 RIPK3 RIPK1 FASLG FAS FADD CFLAR
2 proteolysis GO:0006508 10.06 PCSK1 CFLAR CASP8 CASP10 CASP1
3 positive regulation of apoptotic process GO:0043065 10.03 RIPK1 FASLG FAS FADD CASP8
4 regulation of apoptotic process GO:0042981 10.02 RIPK3 FAS FADD CFLAR CASP8 CASP10
5 cell surface receptor signaling pathway GO:0007166 9.97 MLKL FADD CASP8 CASP10
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.95 RIPK1 FASLG FADD CFLAR CASP8 CASP10
7 cellular response to mechanical stimulus GO:0071260 9.88 FAS FADD CASP8 CASP1
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.85 RIPK1 FASLG FAS
9 extrinsic apoptotic signaling pathway GO:0097191 9.83 RIPK1 FASLG FAS FADD CASP8
10 execution phase of apoptosis GO:0097194 9.81 CFLAR CASP8 CASP10 CASP1
11 programmed cell death GO:0012501 9.8 RIPK3 RIPK1 PGAM5 MLKL
12 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.8 RIPK1 FASLG FAS FADD CFLAR CASP8
13 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.79 RIPK1 FADD CASP8
14 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.78 FASLG FADD CASP8
15 necroptotic process GO:0070266 9.77 RIPK3 RIPK1 PGAM5 MLKL FASLG
16 negative regulation of necroptotic process GO:0060546 9.76 RIPK1 FADD CASP8
17 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.76 RIPK1 FASLG FAS FADD CFLAR CASP8
18 positive regulation of macrophage differentiation GO:0045651 9.74 RIPK1 FADD CASP8
19 toll-like receptor 3 signaling pathway GO:0034138 9.73 RIPK1 FADD CASP8
20 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.73 RIPK1 FASLG FAS FADD CFLAR CASP8
21 death-inducing signaling complex assembly GO:0071550 9.72 RIPK1 FADD CASP8
22 regulation of necroptotic process GO:0060544 9.71 FADD CFLAR CASP8
23 programmed necrotic cell death GO:0097300 9.7 RIPK3 RIPK1 CASP1
24 positive regulation of proteolysis GO:0045862 9.68 FADD CASP8
25 pyroptosis GO:0070269 9.67 CASP8 CASP1
26 lymph node development GO:0048535 9.67 RIPK3 FADD
27 activation of cysteine-type endopeptidase activity GO:0097202 9.66 FADD CASP8
28 positive regulation of necrotic cell death GO:0010940 9.65 RIPK3 RIPK1
29 amyloid fibril formation GO:1990000 9.65 RIPK3 RIPK1
30 activation of JNKK activity GO:0007256 9.65 RIPK1 MLKL
31 positive regulation of necroptotic process GO:0060545 9.64 RIPK3 RIPK1
32 T cell apoptotic process GO:0070231 9.64 RIPK1 FASLG
33 TRAIL-activated apoptotic signaling pathway GO:0036462 9.63 FADD CASP8
34 motor neuron apoptotic process GO:0097049 9.62 FAS FADD
35 eye morphogenesis GO:0048592 9.62 COL5A2 COL5A1
36 negative regulation of endodermal cell differentiation GO:1903225 9.6 COL5A2 COL5A1
37 execution phase of necroptosis GO:0097528 9.59 RIPK3 MLKL
38 necroptotic signaling pathway GO:0097527 9.43 RIPK3 RIPK1 MLKL FASLG FAS FADD
39 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 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.08 RIPK3 RIPK1 PCSK1 MLKL FAS FADD
2 protein-containing complex binding GO:0044877 9.91 RIPK3 RIPK1 PGAM5 MLKL FADD CFLAR
3 cysteine-type peptidase activity GO:0008234 9.76 CFLAR CASP8 CASP10 CASP1
4 cysteine-type endopeptidase activity GO:0004197 9.71 CFLAR CASP8 CASP10 CASP1
5 tumor necrosis factor receptor binding GO:0005164 9.61 FASLG FADD CASP8
6 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.56 CFLAR CASP8 CASP10 CASP1
7 death effector domain binding GO:0035877 9.5 FADD CASP8 CASP10
8 JUN kinase kinase kinase activity GO:0004706 9.49 RIPK1 MLKL
9 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.46 CFLAR CASP8 CASP10 CASP1
10 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.26 CFLAR CASP8 CASP10 CASP1
11 death receptor binding GO:0005123 9.02 RIPK1 FASLG FADD CFLAR CASP8

Sources for Caspase 8 Deficiency

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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