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

CASP8D MCID: CSP005 MIFTS: 46	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 ⁵⁸ ¹² ⁵⁴

Caspase-8 Deficiency ⁵⁴ ⁷⁶ ³⁰ ⁶ ⁴¹

Autoimmune Lymphoproliferative Syndrome Type 2b ¹² ⁵⁴ ¹⁵ ⁷⁴

Alps2b ⁵⁸ ¹² ⁵⁴

Ceds ⁵⁸ ¹² ⁶⁰

Autoimmune Lymphoproliferative Syndrome with Recurrent Viral Infections ¹² ⁶⁰

Alps with Recurrent Viral Infections ¹² ⁶⁰

Caspase 8 Deficiency Syndrome ¹² ⁶⁰

Autoimmune Lymphoproliferative Syndrome, Type Iib; Alps2b ⁵⁸

Autoimmune Lymphoproliferative Syndrome, Type Iib ⁵⁸

Autoimmune Lymphoproliferative Syndrome Type Iib ¹²

Caspase Eight Deficiency State ¹²

Casp8d ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

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: ³⁴ ³⁵

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: ⁶⁰

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0110116

OMIM ⁵⁸ 607271

ICD10 ³⁴ D47.9

ICD10 via Orphanet ³⁵ D47.9

UMLS via Orphanet ⁷⁵ C1846545

Orphanet ⁶⁰ ORPHA275517

MedGen ⁴³ C1846545

SNOMED-CT via HPO ⁷⁰ 16294009 195967001 233604007 more

UMLS ⁷⁴ C1846545

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Summaries for Caspase 8 Deficiency

UniProtKB/Swiss-Prot : ⁷⁶ 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 ERK Signaling and TNFR1 Pathway. Affiliated tissues include t cells, nk cells and b cells, 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 : ⁵⁸ 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 : ⁷⁷ Caspase-8 is a caspase protein, encoded by the CASP8 gene. It most likely acts upon caspase-3. CASP8... 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 19)

#	Related Disease	Score	Top Affiliating Genes
1	cranioectodermal dysplasia 1	11.9
2	camurati-engelmann disease	11.9
3	ribbing disease	11.3
4	cranioectodermal dysplasia 2	11.1
5	cranioectodermal dysplasia 3	11.1
6	cranioectodermal dysplasia 4	11.1
7	lymphoproliferative syndrome	10.1	CASP10 CASP8
8	cholestasis, benign recurrent intrahepatic, 2	10.1	CASP10 CASP8
9	post-transplant lymphoproliferative disease	10.0	CASP8 FADD
10	juvenile amyotrophic lateral sclerosis	10.0	CASP10 CASP8
11	molluscum contagiosum	10.0	CASP8 FADD
12	ehlers-danlos syndrome, classic type, 2	9.9	COL5A1 COL5A2
13	classic ehlers-danlos syndrome	9.9	COL5A1 COL5A2
14	neuroblastoma	9.8
15	skin disease	9.8
16	ehlers-danlos syndrome, classic type, 1	9.8	COL5A1 COL5A2
17	autoimmune lymphoproliferative syndrome	9.8	CASP10 CASP8 FADD
18	oral cavity cancer	9.8	CASP8 FADD
19	collagen disease	9.7	COL5A1 COL5A2

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

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Symptoms & Phenotypes for Caspase 8 Deficiency

Human phenotypes related to Caspase 8 Deficiency:

³³ (show all 11)

#	Description	HPO Source Accession
1	failure to thrive ³³	HP:0001508
2	splenomegaly ³³	HP:0001744
3	short stature ³³	HP:0004322
4	asthma ³³	HP:0002099
5	chronic diarrhea ³³	HP:0002028
6	eczema ³³	HP:0000964
7	lymphadenopathy ³³	HP:0002716
8	pneumonia ³³	HP:0002090
9	decreased t cell activation ³³	HP:0005419
10	recurrent sinopulmonary infections ³³	HP:0005425
11	defective b cell activation ³³	HP:0005384

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-1	9.17	AMD1 RIPK1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-141	9.17	AMD1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-148	9.17	AMD1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	9.17	RIPK1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	9.17	AMD1
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-95	9.17	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 ³⁰	CASP8

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Anatomical Context for Caspase 8 Deficiency

MalaCards organs/tissues related to Caspase 8 Deficiency:

⁴²

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

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Publications for Caspase 8 Deficiency

Articles related to Caspase 8 Deficiency:

#	Title	Authors	Year
1	Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency. ( 30267714 )	Lehle AS...Kotlarz D	2019
2	Caspase-8 deficiency in mouse embryos triggers chronic RIPK1-dependent activation of inflammatory genes, independently of RIPK3. ( 29666472 )	Kang T.B....Wallach D.	2018
3	Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings. ( 25814141 )	Niemela J....Rosenzweig S.D.	2015
4	Th-MYCN mice with caspase-8 deficiency develop advanced neuroblastoma with bone marrow metastasis. ( 23536557 )	Teitz T....Lahti J.M.	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 )	Krelin Y....Wallach D.	2008
7	Caspase-8 deficiency in T cells leads to a lethal lymphoinfiltrative immune disorder. ( 16157684 )	Salmena L....Hakem R.	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	1770.98	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ Protective ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	12353035
2	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	15.97	DISEASES inferred ¹⁵
3	CASP10	Caspase 10	Protein Coding	15.9	DISEASES inferred ¹⁵
4	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	15.77	DISEASES inferred ¹⁵
5	AMD1	Adenosylmethionine Decarboxylase 1	Protein Coding	15.66	DISEASES inferred ¹⁵
6	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	15.64	DISEASES inferred ¹⁵
7	FADD	Fas Associated Via Death Domain	Protein Coding	15.4	DISEASES inferred ¹⁵

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Variations for Caspase 8 Deficiency

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

⁷⁶

#	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.528A> G (p.Ile176Met)	single nucleotide variant	Uncertain significance	rs149933993	GRCh38	Chromosome 2, 201272658: 201272658
6	CASP8	NM_001228.4(CASP8): c.528A> G (p.Ile176Met)	single nucleotide variant	Uncertain significance	rs149933993	GRCh37	Chromosome 2, 202137381: 202137381
7	CASP8	NM_001228.4(CASP8): c.970A> G (p.Met324Val)	single nucleotide variant	Uncertain significance	rs148960588	GRCh38	Chromosome 2, 201284932: 201284932
8	CASP8	NM_001228.4(CASP8): c.970A> G (p.Met324Val)	single nucleotide variant	Uncertain significance	rs148960588	GRCh37	Chromosome 2, 202149655: 202149655
9	CASP8	NM_001228.4(CASP8): c.1355+12C> T	single nucleotide variant	Uncertain significance	rs375465590	GRCh38	Chromosome 2, 201285329: 201285329
10	CASP8	NM_001228.4(CASP8): c.1355+12C> T	single nucleotide variant	Uncertain significance	rs375465590	GRCh37	Chromosome 2, 202150052: 202150052
11	CASP8	NM_001228.4(CASP8): c.*98C> T	single nucleotide variant	Uncertain significance	rs36155452	GRCh38	Chromosome 2, 201286692: 201286692
12	CASP8	NM_001228.4(CASP8): c.*98C> T	single nucleotide variant	Uncertain significance	rs36155452	GRCh37	Chromosome 2, 202151415: 202151415
13	CASP8	NM_001228.4(CASP8): c.*316C> T	single nucleotide variant	Uncertain significance	rs35419671	GRCh38	Chromosome 2, 201286910: 201286910
14	CASP8	NM_001228.4(CASP8): c.*316C> T	single nucleotide variant	Uncertain significance	rs35419671	GRCh37	Chromosome 2, 202151633: 202151633
15	CASP8	NM_001228.4(CASP8): c.*464T> C	single nucleotide variant	Benign	rs1045494	GRCh38	Chromosome 2, 201287058: 201287058
16	CASP8	NM_001228.4(CASP8): c.*464T> C	single nucleotide variant	Benign	rs1045494	GRCh37	Chromosome 2, 202151781: 202151781
17	CASP8	NM_001228.4(CASP8): c.*578C> A	single nucleotide variant	Uncertain significance	rs886055434	GRCh38	Chromosome 2, 201287172: 201287172
18	CASP8	NM_001228.4(CASP8): c.*578C> A	single nucleotide variant	Uncertain significance	rs886055434	GRCh37	Chromosome 2, 202151895: 202151895
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	GRCh38	Chromosome 2, 201276955: 201276955
22	CASP8	NM_001228.4(CASP8): c.840A> G (p.Thr280=)	single nucleotide variant	Likely benign	rs35142591	GRCh37	Chromosome 2, 202141678: 202141678
23	CASP8	NM_001228.4(CASP8): c.1011G> A (p.Lys337=)	single nucleotide variant	Benign	rs1045487	GRCh38	Chromosome 2, 201284973: 201284973
24	CASP8	NM_001228.4(CASP8): c.1011G> A (p.Lys337=)	single nucleotide variant	Benign	rs1045487	GRCh37	Chromosome 2, 202149696: 202149696
25	CASP8	NM_001228.4(CASP8): c.1089T> C (p.Pro363=)	single nucleotide variant	Uncertain significance	rs768360449	GRCh38	Chromosome 2, 201285051: 201285051
26	CASP8	NM_001228.4(CASP8): c.1089T> C (p.Pro363=)	single nucleotide variant	Uncertain significance	rs768360449	GRCh37	Chromosome 2, 202149774: 202149774
27	CASP8	NM_001228.4(CASP8): c.*60C> T	single nucleotide variant	Likely benign	rs13425113	GRCh38	Chromosome 2, 201286654: 201286654
28	CASP8	NM_001228.4(CASP8): c.*60C> T	single nucleotide variant	Likely benign	rs13425113	GRCh37	Chromosome 2, 202151377: 202151377
29	CASP8	NM_001228.4(CASP8): c.*83G> A	single nucleotide variant	Likely benign	rs17860428	GRCh38	Chromosome 2, 201286677: 201286677
30	CASP8	NM_001228.4(CASP8): c.*83G> A	single nucleotide variant	Likely benign	rs17860428	GRCh37	Chromosome 2, 202151400: 202151400
31	CASP8	NM_001228.4(CASP8): c.*99G> A	single nucleotide variant	Likely benign	rs13425383	GRCh38	Chromosome 2, 201286693: 201286693
32	CASP8	NM_001228.4(CASP8): c.*99G> A	single nucleotide variant	Likely benign	rs13425383	GRCh37	Chromosome 2, 202151416: 202151416
33	CASP8	NM_001228.4(CASP8): c.*122G> C	single nucleotide variant	Benign	rs3185378	GRCh38	Chromosome 2, 201286716: 201286716
34	CASP8	NM_001228.4(CASP8): c.*122G> C	single nucleotide variant	Benign	rs3185378	GRCh37	Chromosome 2, 202151439: 202151439
35	CASP8	NM_001228.4(CASP8): c.*124C> T	single nucleotide variant	Uncertain significance	rs886055432	GRCh38	Chromosome 2, 201286718: 201286718
36	CASP8	NM_001228.4(CASP8): c.*124C> T	single nucleotide variant	Uncertain significance	rs886055432	GRCh37	Chromosome 2, 202151441: 202151441
37	CASP8	NM_001228.4(CASP8): c.*175C> T	single nucleotide variant	Likely benign	rs2141331	GRCh38	Chromosome 2, 201286769: 201286769
38	CASP8	NM_001228.4(CASP8): c.*175C> T	single nucleotide variant	Likely benign	rs2141331	GRCh37	Chromosome 2, 202151492: 202151492
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	GRCh38	Chromosome 2, 201286462: 201286462
44	CASP8	NM_001228.4(CASP8): c.1359C> T (p.Gly453=)	single nucleotide variant	Uncertain significance	rs777463099	GRCh37	Chromosome 2, 202151185: 202151185
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 27)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁵ Show member pathways ILK Signaling ⁶⁵ MAPK Signaling ⁶⁵ Molecular Mechanisms of Cancer ⁶⁵ Rho Family GTPases ⁶⁵	13.5	CASP10 CASP8 COL5A1 COL5A2 FADD RIPK1
2	TNFR1 Pathway ⁶⁵ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²³ Apoptosis through Death Receptors ⁶⁵ Apoptotic Pathways Triggered By HIV1 ⁶⁵ DR3 Signaling ⁶⁵ Fas Signaling ⁶⁵ GITR Pathway ⁶⁵ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁷ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁵ TRAIL Pathway ⁶⁵ TWEAK Pathway ⁶⁵	12.67	CASP10 CASP8 FADD RIPK1
3	Human cytomegalovirus infection ³⁸ Show member pathways Human immunodeficiency virus 1 infection ³⁸ Kaposi sarcoma-associated herpesvirus infection ³⁸	12.67	CASP10 CASP8 FADD RIPK1
4	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.63	CASP10 CASP8 FADD RIPK1
5	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁸ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²³ Apoptosis Signaling Pathways ⁶⁶ Death Receptor Signaling ⁶⁸	12.5	CASP10 CASP8 FADD RIPK1
6	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁷ Show member pathways Cytosolic DNA-sensing pathway ³⁸ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²³ Negative regulators of RIG-I/MDA5 signaling ⁶⁷ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁷ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁸ TRAF3-dependent IRF activation pathway ⁶⁷ TRAF6 mediated IRF7 activation ⁶⁷ Virus Detection and Induction of Antiviral Signaling Pathways by RIG-I-like Receptors (RLR) ⁶⁶	12.44	CASP10 CASP8 FADD RIPK1
7	Development Endothelin-1/EDNRA signaling ²³ Show member pathways Cytoskeleton remodeling FAK signaling ²³ Development Endothelin-1/EDNRA transactivation of EGFR ²³ GnRH signaling pathway ³⁸ Inflammatory mediator regulation of TRP channels ³⁸	12.38	CASP8 FADD RIPK1
8	Chks in Checkpoint Regulation ⁶⁵ Show member pathways DNA Repair Mechanisms ⁶⁵ Estrogen-mediated S-Phase Entry ⁶⁵ G2-M Phase Transition ⁶⁵ Parkinson's Disease Pathway ⁶⁵ SREBP Proteolysis ⁶⁵	12.37	CASP10 CASP8 FADD RIPK1
9	TRAF Pathway ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁵ TNF Superfamily Pathway ⁶⁵ Toll-Like Receptors Pathway ⁶⁵	12.27	CASP10 CASP8 FADD RIPK1
10	DREAM Repression and Dynorphin Expression ⁶⁵ Show member pathways BMP Pathway ⁶⁵ Caspase Cascade ⁶⁵ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁷ nNOS Signaling in Skeletal Muscle ⁶⁵ TOB in Osteoblast Signaling ⁶⁵	12.24	CASP10 CASP8 FADD
11	Apoptosis and Autophagy ⁴	11.99	CASP8 FADD RIPK1
12	Tuberculosis ³⁸	11.95	CASP10 CASP8 FADD
13	Apoptosis and survival Caspase cascade ²³ Show member pathways Apoptosis and survival FAS signaling cascades ²³ Breakdown of the nuclear lamina ⁶⁷ Caspase cascade in apoptosis ¹ Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation ¹ FasL/ CD95L signaling ⁶⁷ Influenza A virus infection ¹	11.93	CASP10 CASP8 FADD RIPK1
14	Necroptosis ³⁸ Show member pathways Nanoparticle triggered regulated necrosis ¹	11.92	CASP8 FADD RIPK1
15	TNF signaling (REACTOME) ⁶⁷ Show member pathways Death Receptor Signalling ⁶⁷ Regulation of TNFR1 signaling ⁶⁷ TNF receptor signaling pathway ¹ TNFR1-induced NFkappaB signaling pathway ⁶⁷ TNFR1-induced proapoptotic signaling ⁶⁷ TNFR1-mediated ceramide production ⁶⁷	11.89	CASP10 CASP8 FADD RIPK1
16	Immune response Function of MEF2 in T lymphocytes ²³ Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²³	11.86	CASP8 FADD RIPK1
17	VEGF Pathway (Tocris) ⁷³ Show member pathways Sorafenib Pharmacodynamics ⁶²	11.55	CASP10 CASP8
18	Ceramide Pathway ⁶⁵ Show member pathways TNF-Induced Apoptosis Implicating Sphingolipids ⁶⁵	11.55	CASP10 CASP8 FADD RIPK1
19	Nanomaterial induced apoptosis ¹ Show member pathways Activation and oligomerization of BAK protein ⁶⁷ Apoptosis - multiple species ³⁸ Apoptosis Modulation by HSP70 ¹ Apoptotic factor-mediated response ⁶⁷ Release of apoptotic factors from the mitochondria ⁶⁷	11.5	CASP8 FADD RIPK1
20	Platinum drug resistance ³⁸	11.49	CASP8 FADD
21	NF-kB (NFkB) Pathway ⁶⁸	11.48	FADD RIPK1
22	TNF signaling pathway ³⁸	11.3	CASP10 CASP8 FADD RIPK1
23	all-trans-Retinoic Acid Mediated Apoptosis ⁶⁵	11.24	CASP8 FADD
24	miRNA targets in ECM and membrane receptors ¹	11.24	COL5A1 COL5A2
25	TNF Signaling (sino) ⁶⁸	11.19	CASP10 CASP8
26	Ceramide signaling pathway ¹	11.14	CASP8 FADD RIPK1
27	A-beta Signaling Pathways ⁶⁶	10.66	CASP10 CASP8 FADD 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	membrane raft	GO:0045121	9.5	CASP8 FADD RIPK1
2	collagen trimer	GO:0005581	9.4	COL5A1 COL5A2
3	cell body	GO:0044297	9.37	CASP8 FADD
4	death-inducing signaling complex	GO:0031264	9.33	CASP8 FADD RIPK1
5	collagen type V trimer	GO:0005588	9.26	COL5A1 COL5A2
6	CD95 death-inducing signaling complex	GO:0031265	9.13	CASP10 CASP8 FADD
7	ripoptosome	GO:0097342	8.92	CASP10 CASP8 FADD RIPK1

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

(show all 32)

#	Name	GO ID	Score	Top Affiliating Genes
1	apoptotic process	GO:0006915	9.88	CASP10 CASP8 FADD RIPK1
2	viral process	GO:0016032	9.83	CASP8 FADD RIPK1
3	cell surface receptor signaling pathway	GO:0007166	9.8	CASP10 CASP8 FADD
4	regulation of apoptotic process	GO:0042981	9.8	CASP10 CASP8 FADD
5	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.73	CASP10 CASP8 FADD RIPK1
6	extrinsic apoptotic signaling pathway	GO:0097191	9.67	CASP8 FADD RIPK1
7	cellular response to mechanical stimulus	GO:0071260	9.65	CASP8 FADD
8	positive regulation of tumor necrosis factor production	GO:0032760	9.65	FADD RIPK1
9	collagen fibril organization	GO:0030199	9.64	COL5A1 COL5A2
10	skin development	GO:0043588	9.64	COL5A1 COL5A2
11	negative regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043124	9.63	CASP8 RIPK1
12	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902042	9.63	CASP8 FADD RIPK1
13	extrinsic apoptotic signaling pathway via death domain receptors	GO:0008625	9.62	CASP8 FADD
14	response to tumor necrosis factor	GO:0034612	9.61	CASP8 RIPK1
15	regulation of tumor necrosis factor-mediated signaling pathway	GO:0010803	9.61	CASP8 RIPK1
16	positive regulation of interleukin-8 production	GO:0032757	9.6	FADD RIPK1
17	positive regulation of extrinsic apoptotic signaling pathway	GO:2001238	9.59	FADD RIPK1
18	execution phase of apoptosis	GO:0097194	9.58	CASP10 CASP8
19	TRIF-dependent toll-like receptor signaling pathway	GO:0035666	9.58	CASP8 FADD RIPK1
20	positive regulation of proteolysis	GO:0045862	9.57	CASP8 FADD
21	activation of cysteine-type endopeptidase activity	GO:0097202	9.56	CASP8 FADD
22	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.56	CASP10 CASP8 FADD RIPK1
23	regulation of necroptotic process	GO:0060544	9.55	CASP8 FADD
24	necroptotic signaling pathway	GO:0097527	9.54	FADD RIPK1
25	regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902041	9.54	CASP8 FADD RIPK1
26	TRAIL-activated apoptotic signaling pathway	GO:0036462	9.52	CASP8 FADD
27	eye morphogenesis	GO:0048592	9.51	COL5A1 COL5A2
28	positive regulation of macrophage differentiation	GO:0045651	9.5	CASP8 FADD RIPK1
29	negative regulation of endodermal cell differentiation	GO:1903225	9.48	COL5A1 COL5A2
30	toll-like receptor 3 signaling pathway	GO:0034138	9.33	CASP8 FADD RIPK1
31	apoptotic signaling pathway	GO:0097190	9.26	CASP10 CASP8 FADD RIPK1
32	death-inducing signaling complex assembly	GO:0071550	8.8	CASP8 FADD RIPK1

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	9.61	CASP8 FADD RIPK1
2	ubiquitin protein ligase binding	GO:0031625	9.58	CASP10 CASP8 RIPK1
3	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.37	COL5A1 COL5A2
4	tumor necrosis factor receptor binding	GO:0005164	9.32	CASP8 FADD
5	cysteine-type endopeptidase activity involved in apoptotic process	GO:0097153	9.26	CASP10 CASP8
6	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097199	9.16	CASP10 CASP8
7	death receptor binding	GO:0005123	9.13	CASP8 FADD RIPK1
8	death effector domain binding	GO:0035877	8.8	CASP10 CASP8 FADD

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Caspase 8 Deficiency:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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