Caspase 8 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CASP8D MCID: CSP005 MIFTS: 45	Caspase 8 Deficiency (CASP8D) Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Caspase 8 Deficiency

MalaCards integrated aliases for Caspase 8 Deficiency:

Name: Caspase 8 Deficiency ⁵⁷ ¹² ⁵³

Caspase-8 Deficiency ⁵³ ⁷⁵ ²⁹ ⁶ ⁴⁰

Autoimmune Lymphoproliferative Syndrome Type 2b ¹² ⁵³ ¹⁵ ⁷³

Alps2b ⁵⁷ ¹² ⁵³

Ceds ⁵⁷ ¹² ⁵⁹

Autoimmune Lymphoproliferative Syndrome with Recurrent Viral Infections ¹² ⁵⁹

Alps with Recurrent Viral Infections ¹² ⁵⁹

Caspase 8 Deficiency Syndrome ¹² ⁵⁹

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 ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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: ³³ ³⁴

Neoplasms

Neoplasms of uncertain or unknown behaviour

Other neoplasms of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue

Neoplasm of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue, unspecified

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 607271

Disease Ontology ¹² DOID:0110116

ICD10 ³³ D47.9

Orphanet ⁵⁹ ORPHA275517

UMLS via Orphanet ⁷⁴ C1846545

ICD10 via Orphanet ³⁴ D47.9

MedGen ⁴² C1846545

SNOMED-CT via HPO ⁶⁹ 258211005 281104002 43116000 more

UMLS ⁷³ C1846545

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Summaries for Caspase 8 Deficiency

UniProtKB/Swiss-Prot : ⁷⁵ 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 caspase-8 deficiency, is related to cranioectodermal dysplasia 1 and camurati-engelmann disease. An important gene associated with Caspase 8 Deficiency is CASP8 (Caspase 8), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include t cells, nk cells and bone, 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)

Wikipedia : ⁷⁶ Caspase-8 deficiency (CEDS) is a very rare genetic disorder of the immune system. It is caused by... more...

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Related Diseases for Caspase 8 Deficiency

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	cranioectodermal dysplasia 1	11.9
2	camurati-engelmann disease	11.8
3	ribbing disease	11.3
4	cranioectodermal dysplasia 2	11.0
5	cranioectodermal dysplasia 3	11.0
6	cranioectodermal dysplasia 4	11.0
7	cholestasis, benign recurrent intrahepatic, 2	10.0	CASP10 CASP8
8	juvenile amyotrophic lateral sclerosis	10.0	CASP10 CASP8
9	ehlers-danlos syndrome, classic type, 2	10.0	COL5A1 COL5A2
10	classic ehlers-danlos syndrome	10.0	COL5A1 COL5A2
11	ehlers-danlos syndrome, classic type, 1	9.9	COL5A1 COL5A2
12	lymphoproliferative syndrome	9.9	CASP10 CASP8
13	collagen disease	9.9	COL5A1 COL5A2
14	neuroblastoma	9.8
15	skin disease	9.8

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

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Symptoms & Phenotypes for Caspase 8 Deficiency

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
failure to thrive

Growth Height:
short stature

Skin Nails Hair Skin:
eczema

Respiratory Lung:
pneumonia

Abdomen Spleen:
splenomegaly

Respiratory Airways:
asthma
reactive airway disease

Immunology:
lymphadenopathy
recurrent sinopulmonary infections
herpes simplex virus infection, mucocutaneous
defective cd95-induced apoptosis of peripheral blood lymphocytes
no response to pneumococcal vaccination
more

Abdomen Gastrointestinal:
diarrhea, chronic

Clinical features from OMIM:

607271

Human phenotypes related to Caspase 8 Deficiency:

³² (show all 11)

#	Description	HPO Source Accession
1	failure to thrive ³²	HP:0001508
2	splenomegaly ³²	HP:0001744
3	short stature ³²	HP:0004322
4	asthma ³²	HP:0002099
5	chronic diarrhea ³²	HP:0002028
6	eczema ³²	HP:0000964
7	lymphadenopathy ³²	HP:0002716
8	pneumonia ³²	HP:0002090
9	decreased t cell activation ³²	HP:0005419
10	recurrent sinopulmonary infections ³²	HP:0005425
11	defective b cell activation ³²	HP:0005384

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-1	9.23	AMD1 RIPK1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-116	9.23	RIPK1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-141	9.23	AMD1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-148	9.23	AMD1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	9.23	RIPK1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	9.23	AMD1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-95	9.23	AMD1

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Drugs & Therapeutics for Caspase 8 Deficiency

Search Clinical Trials , NIH Clinical Center for Caspase 8 Deficiency

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Genetic Tests for Caspase 8 Deficiency

Genetic tests related to Caspase 8 Deficiency:

#	Genetic test	Affiliating Genes
1	Caspase-8 Deficiency ²⁹	CASP8

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Anatomical Context for Caspase 8 Deficiency

MalaCards organs/tissues related to Caspase 8 Deficiency:

⁴¹

T Cells, Nk Cells, Bone, B Cells, Skin, Bone Marrow

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Publications for Caspase 8 Deficiency

Articles related to Caspase 8 Deficiency:

#	Title	Authors	Year
1	Caspase-8 deficiency in mouse embryos triggers chronic RIPK1-dependent activation of inflammatory genes, independently of RIPK3. ( 29666472 )	Kang T.B....Wallach D.	2018
2	Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency. ( 30267714 )	Lehle AS...Kotlarz D	2018
3	Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings. ( 25814141 )		2015
4	Th-MYCN mice with caspase-8 deficiency develop advanced neuroblastoma with bone marrow metastasis. ( 23536557 )		2013
5	Caspase-8 deficiency in epidermal keratinocytes triggers an inflammatory skin disease. ( 19720838 )	Kovalenko A....Wallach D.	2009
6	Caspase-8 deficiency facilitates cellular transformation in vitro. ( 18566604 )		2008
7	Caspase-8 deficiency in T cells leads to a lethal lymphoinfiltrative immune disorder. ( 16157684 )		2005

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Genes for Caspase 8 Deficiency

Genes related to Caspase 8 Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CASP8	Caspase 8	Protein Coding	1770.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Protective ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	12353035
2	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	16.03	DISEASES inferred ¹⁵
3	CASP10	Caspase 10	Protein Coding	15.92	DISEASES inferred ¹⁵
4	AMD1	Adenosylmethionine Decarboxylase 1	Protein Coding	15.68	DISEASES inferred ¹⁵
5	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	15.66	DISEASES inferred ¹⁵
6	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	15.52	DISEASES inferred ¹⁵
7	PGAM5	PGAM Family Member 5, Mitochondrial Serine/Threonine Protein Phosphatase	Protein Coding	15.38	DISEASES inferred ¹⁵

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Variations for Caspase 8 Deficiency

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

⁷⁵

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

ClinVar genetic disease variations for Caspase 8 Deficiency:

⁶ (show top 50) (show all 82)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CASP8	NM_001228.4(CASP8): c.793C> T (p.Arg265Trp)	single nucleotide variant	Pathogenic	rs17860424	GRCh37	Chromosome 2, 202141631: 202141631
2	CASP8	NM_001228.4(CASP8): c.793C> T (p.Arg265Trp)	single nucleotide variant	Pathogenic	rs17860424	GRCh38	Chromosome 2, 201276908: 201276908
3	CASP8	NM_001228.4(CASP8): c.904G> C (p.Asp302His)	single nucleotide variant	protective	rs1045485	GRCh37	Chromosome 2, 202149589: 202149589
4	CASP8	NM_001228.4(CASP8): c.904G> C (p.Asp302His)	single nucleotide variant	protective	rs1045485	GRCh38	Chromosome 2, 201284866: 201284866
5	CASP8	NM_001228.4(CASP8): c.970A> G (p.Met324Val)	single nucleotide variant	Uncertain significance	rs148960588	GRCh37	Chromosome 2, 202149655: 202149655
6	CASP8	NM_001228.4(CASP8): c.970A> G (p.Met324Val)	single nucleotide variant	Uncertain significance	rs148960588	GRCh38	Chromosome 2, 201284932: 201284932
7	CASP8	NM_001228.4(CASP8): c.*578C> A	single nucleotide variant	Uncertain significance	rs886055434	GRCh38	Chromosome 2, 201287172: 201287172
8	CASP8	NM_001228.4(CASP8): c.*578C> A	single nucleotide variant	Uncertain significance	rs886055434	GRCh37	Chromosome 2, 202151895: 202151895
9	CASP8	NM_001228.4(CASP8): c.528A> G (p.Ile176Met)	single nucleotide variant	Uncertain significance	rs149933993	GRCh38	Chromosome 2, 201272658: 201272658
10	CASP8	NM_001228.4(CASP8): c.528A> G (p.Ile176Met)	single nucleotide variant	Uncertain significance	rs149933993	GRCh37	Chromosome 2, 202137381: 202137381
11	CASP8	NM_001228.4(CASP8): c.1355+12C> T	single nucleotide variant	Uncertain significance	rs375465590	GRCh37	Chromosome 2, 202150052: 202150052
12	CASP8	NM_001228.4(CASP8): c.1355+12C> T	single nucleotide variant	Uncertain significance	rs375465590	GRCh38	Chromosome 2, 201285329: 201285329
13	CASP8	NM_001228.4(CASP8): c.*98C> T	single nucleotide variant	Uncertain significance	rs36155452	GRCh37	Chromosome 2, 202151415: 202151415
14	CASP8	NM_001228.4(CASP8): c.*98C> T	single nucleotide variant	Uncertain significance	rs36155452	GRCh38	Chromosome 2, 201286692: 201286692
15	CASP8	NM_001228.4(CASP8): c.*316C> T	single nucleotide variant	Uncertain significance	rs35419671	GRCh37	Chromosome 2, 202151633: 202151633
16	CASP8	NM_001228.4(CASP8): c.*316C> T	single nucleotide variant	Uncertain significance	rs35419671	GRCh38	Chromosome 2, 201286910: 201286910
17	CASP8	NM_001228.4(CASP8): c.*464T> C	single nucleotide variant	Benign	rs1045494	GRCh38	Chromosome 2, 201287058: 201287058
18	CASP8	NM_001228.4(CASP8): c.*464T> C	single nucleotide variant	Benign	rs1045494	GRCh37	Chromosome 2, 202151781: 202151781
19	CASP8	NM_001228.4(CASP8): c.435C> T (p.Ser145=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs17860422	GRCh38	Chromosome 2, 201271549: 201271549
20	CASP8	NM_001228.4(CASP8): c.435C> T (p.Ser145=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs17860422	GRCh37	Chromosome 2, 202136272: 202136272
21	CASP8	NM_001228.4(CASP8): c.840A> G (p.Thr280=)	single nucleotide variant	Likely benign	rs35142591	GRCh37	Chromosome 2, 202141678: 202141678
22	CASP8	NM_001228.4(CASP8): c.840A> G (p.Thr280=)	single nucleotide variant	Likely benign	rs35142591	GRCh38	Chromosome 2, 201276955: 201276955
23	CASP8	NM_001228.4(CASP8): c.1011G> A (p.Lys337=)	single nucleotide variant	Benign	rs1045487	GRCh37	Chromosome 2, 202149696: 202149696
24	CASP8	NM_001228.4(CASP8): c.1011G> A (p.Lys337=)	single nucleotide variant	Benign	rs1045487	GRCh38	Chromosome 2, 201284973: 201284973
25	CASP8	NM_001228.4(CASP8): c.1089T> C (p.Pro363=)	single nucleotide variant	Uncertain significance	rs768360449	GRCh37	Chromosome 2, 202149774: 202149774
26	CASP8	NM_001228.4(CASP8): c.1089T> C (p.Pro363=)	single nucleotide variant	Uncertain significance	rs768360449	GRCh38	Chromosome 2, 201285051: 201285051
27	CASP8	NM_001228.4(CASP8): c.*60C> T	single nucleotide variant	Likely benign	rs13425113	GRCh37	Chromosome 2, 202151377: 202151377
28	CASP8	NM_001228.4(CASP8): c.*60C> T	single nucleotide variant	Likely benign	rs13425113	GRCh38	Chromosome 2, 201286654: 201286654
29	CASP8	NM_001228.4(CASP8): c.*83G> A	single nucleotide variant	Likely benign	rs17860428	GRCh37	Chromosome 2, 202151400: 202151400
30	CASP8	NM_001228.4(CASP8): c.*83G> A	single nucleotide variant	Likely benign	rs17860428	GRCh38	Chromosome 2, 201286677: 201286677
31	CASP8	NM_001228.4(CASP8): c.*99G> A	single nucleotide variant	Likely benign	rs13425383	GRCh37	Chromosome 2, 202151416: 202151416
32	CASP8	NM_001228.4(CASP8): c.*99G> A	single nucleotide variant	Likely benign	rs13425383	GRCh38	Chromosome 2, 201286693: 201286693
33	CASP8	NM_001228.4(CASP8): c.*122G> C	single nucleotide variant	Benign	rs3185378	GRCh37	Chromosome 2, 202151439: 202151439
34	CASP8	NM_001228.4(CASP8): c.*122G> C	single nucleotide variant	Benign	rs3185378	GRCh38	Chromosome 2, 201286716: 201286716
35	CASP8	NM_001228.4(CASP8): c.*124C> T	single nucleotide variant	Uncertain significance	rs886055432	GRCh37	Chromosome 2, 202151441: 202151441
36	CASP8	NM_001228.4(CASP8): c.*124C> T	single nucleotide variant	Uncertain significance	rs886055432	GRCh38	Chromosome 2, 201286718: 201286718
37	CASP8	NM_001228.4(CASP8): c.*175C> T	single nucleotide variant	Likely benign	rs2141331	GRCh37	Chromosome 2, 202151492: 202151492
38	CASP8	NM_001228.4(CASP8): c.*175C> T	single nucleotide variant	Likely benign	rs2141331	GRCh38	Chromosome 2, 201286769: 201286769
39	CASP8	NM_001228.4(CASP8): c.*429A> G	single nucleotide variant	Likely benign	rs17860433	GRCh38	Chromosome 2, 201287023: 201287023
40	CASP8	NM_001228.4(CASP8): c.*429A> G	single nucleotide variant	Likely benign	rs17860433	GRCh37	Chromosome 2, 202151746: 202151746
41	CASP8	NM_001228.4(CASP8): c.935_936dupAT	duplication	Benign	rs397897264	GRCh38	Chromosome 2, 201287529: 201287530
42	CASP8	NM_001228.4(CASP8): c.935_936dupAT	duplication	Benign	rs397897264	GRCh37	Chromosome 2, 202152252: 202152253
43	CASP8	NM_001228.4(CASP8): c.1359C> T (p.Gly453=)	single nucleotide variant	Uncertain significance	rs777463099	GRCh37	Chromosome 2, 202151185: 202151185
44	CASP8	NM_001228.4(CASP8): c.1359C> T (p.Gly453=)	single nucleotide variant	Uncertain significance	rs777463099	GRCh38	Chromosome 2, 201286462: 201286462
45	CASP8	NM_001228.4(CASP8): c.*411G> C	single nucleotide variant	Likely benign	rs17860432	GRCh38	Chromosome 2, 201287005: 201287005
46	CASP8	NM_001228.4(CASP8): c.*411G> C	single nucleotide variant	Likely benign	rs17860432	GRCh37	Chromosome 2, 202151728: 202151728
47	CASP8	NM_001228.4(CASP8): c.*591T> C	single nucleotide variant	Uncertain significance	rs187758494	GRCh38	Chromosome 2, 201287185: 201287185
48	CASP8	NM_001228.4(CASP8): c.*591T> C	single nucleotide variant	Uncertain significance	rs187758494	GRCh37	Chromosome 2, 202151908: 202151908
49	CASP8	NM_001228.4(CASP8): c.*812T> A	single nucleotide variant	Uncertain significance	rs538987233	GRCh38	Chromosome 2, 201287406: 201287406
50	CASP8	NM_001228.4(CASP8): c.*812T> A	single nucleotide variant	Uncertain significance	rs538987233	GRCh37	Chromosome 2, 202152129: 202152129

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Expression for Caspase 8 Deficiency

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

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Pathways for Caspase 8 Deficiency

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

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ¹ Apoptosis ³⁷ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.44	CASP10 CASP8 RIPK1
2	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁶ Show member pathways Cytosolic DNA-sensing pathway ³⁷ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²² Negative regulators of RIG-I/MDA5 signaling ⁶⁶ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁶ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁷ TRAF3-dependent IRF activation pathway ⁶⁶ TRAF6 mediated IRF7 activation ⁶⁶ Virus Detection and Induction of Antiviral Signaling Pathways by RIG-I-like Receptors (RLR) ⁶⁵	12.37	CASP10 CASP8 RIPK1
3	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.29	CASP10 CASP8 RIPK1
4	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.2	CASP10 CASP8 RIPK1
5	TNF signaling (REACTOME) ¹ Show member pathways Death Receptor Signalling ⁶⁶ Regulation of TNFR1 signaling ⁶⁶ TNF signaling ⁶⁶ TNFR1-induced NFkappaB signaling pathway ⁶⁶ TNFR1-induced proapoptotic signaling ⁶⁶ TNFR1-mediated ceramide production ⁶⁶	11.88	CASP10 CASP8 RIPK1
6	Apoptosis and survival Caspase cascade ²² Show member pathways Apoptosis and survival FAS signaling cascades ²² Breakdown of the nuclear lamina ⁶⁶ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁶ Influenza A virus infection ¹	11.84	CASP10 CASP8 RIPK1
7	Dimerization of procaspase-8 ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ FAS (CD95) signaling pathway ¹ Ligand-dependent caspase activation ⁶⁶ Ligand-independent caspase activation via DCC ⁶⁶ Regulated Necrosis ⁶⁶ Regulation by c-FLIP ⁶⁶ Regulation of necroptotic cell death ⁶⁶ RIPK1-mediated regulated necrosis ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ¹	11.8	CASP10 CASP8 RIPK1
8	Necroptosis ³⁷ Show member pathways Nanoparticle triggered regulated necrosis ¹	11.67	CASP8 PGAM5 RIPK1
9	Nanomaterial induced apoptosis ¹ Show member pathways Activation and oligomerization of BAK protein ⁶⁶ Apoptosis - multiple species ³⁷ Apoptosis Modulation by HSP70 ¹ Apoptotic factor-mediated response ⁶⁶ Release of apoptotic factors from the mitochondria ⁶⁶	11.47	CASP8 RIPK1
10	VEGF Pathway (Tocris) ⁶¹ Show member pathways VEGF Pathway ⁷²	11.46	CASP10 CASP8
11	Ceramide Pathway ⁶⁴ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁴	11.42	CASP10 CASP8 RIPK1
12	Ceramide signaling pathway ¹	11.12	CASP8 RIPK1
13	miRNA targets in ECM and membrane receptors ¹	11.09	COL5A1 COL5A2
14	TNF Signaling (sino) ⁶⁷	11.03	CASP10 CASP8
15	TNF signaling pathway ³⁷	10.97	CASP10 CASP8 PGAM5 RIPK1
16	A-beta Signaling Pathways ⁶⁵	10.87	CASP10 CASP8 RIPK1

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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	collagen trimer	GO:0005581	9.32	COL5A1 COL5A2
2	death-inducing signaling complex	GO:0031264	9.26	CASP8 RIPK1
3	CD95 death-inducing signaling complex	GO:0031265	9.16	CASP10 CASP8
4	collagen type V trimer	GO:0005588	8.96	COL5A1 COL5A2
5	ripoptosome	GO:0097342	8.8	CASP10 CASP8 RIPK1

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.63	CASP10 CASP8 RIPK1
2	collagen fibril organization	GO:0030199	9.59	COL5A1 COL5A2
3	extrinsic apoptotic signaling pathway	GO:0097191	9.58	CASP8 RIPK1
4	skin development	GO:0043588	9.58	COL5A1 COL5A2
5	negative regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043124	9.57	CASP8 RIPK1
6	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902042	9.56	CASP8 RIPK1
7	response to tumor necrosis factor	GO:0034612	9.55	CASP8 RIPK1
8	regulation of tumor necrosis factor-mediated signaling pathway	GO:0010803	9.54	CASP8 RIPK1
9	TRIF-dependent toll-like receptor signaling pathway	GO:0035666	9.52	CASP8 RIPK1
10	execution phase of apoptosis	GO:0097194	9.51	CASP10 CASP8
11	programmed cell death	GO:0012501	9.49	PGAM5 RIPK1
12	necroptotic process	GO:0070266	9.48	PGAM5 RIPK1
13	regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902041	9.43	CASP8 RIPK1
14	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.43	CASP10 CASP8 RIPK1
15	positive regulation of macrophage differentiation	GO:0045651	9.4	CASP8 RIPK1
16	toll-like receptor 3 signaling pathway	GO:0034138	9.37	CASP8 RIPK1
17	apoptotic signaling pathway	GO:0097190	9.33	CASP10 CASP8 RIPK1
18	death-inducing signaling complex assembly	GO:0071550	9.32	CASP8 RIPK1
19	eye morphogenesis	GO:0048592	8.96	COL5A1 COL5A2
20	negative regulation of endodermal cell differentiation	GO:1903225	8.62	COL5A1 COL5A2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex binding	GO:0044877	9.58	CASP8 PGAM5 RIPK1
2	ubiquitin protein ligase binding	GO:0031625	9.54	CASP10 CASP8 RIPK1
3	cysteine-type endopeptidase activity	GO:0004197	9.43	CASP10 CASP8
4	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.32	COL5A1 COL5A2
5	cysteine-type endopeptidase activity involved in apoptotic process	GO:0097153	9.26	CASP10 CASP8
6	death receptor binding	GO:0005123	9.16	CASP8 RIPK1
7	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097199	8.96	CASP10 CASP8
8	death effector domain binding	GO:0035877	8.62	CASP10 CASP8

Sources

Sources for Caspase 8 Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Caspase 8 Deficiency (CASP8D)

Aliases & Classifications for Caspase 8 Deficiency

MalaCards integrated aliases for Caspase 8 Deficiency:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Caspase 8 Deficiency

Related Diseases for Caspase 8 Deficiency

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

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

Symptoms & Phenotypes for Caspase 8 Deficiency

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Caspase 8 Deficiency:

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

Drugs & Therapeutics for Caspase 8 Deficiency

Genetic Tests for Caspase 8 Deficiency

Genetic tests related to Caspase 8 Deficiency:

Anatomical Context for Caspase 8 Deficiency

MalaCards organs/tissues related to Caspase 8 Deficiency:

Publications for Caspase 8 Deficiency

Articles related to Caspase 8 Deficiency:

Genes for Caspase 8 Deficiency

Genes related to Caspase 8 Deficiency (1 elite genes):

Variations for Caspase 8 Deficiency

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

ClinVar genetic disease variations for Caspase 8 Deficiency:

Expression for Caspase 8 Deficiency

Pathways for Caspase 8 Deficiency

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

GO Terms for Caspase 8 Deficiency

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

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

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

Sources for Caspase 8 Deficiency