SCIDA
MCID: SVR010
MIFTS: 57

Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation (SCIDA)

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

Aliases & Classifications for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

MalaCards integrated aliases for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

Name: Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 57 12 20 73 13 15 39 71
Severe Combined Immunodeficiency Due to Dclre1c Deficiency 12 58 29 6
Severe Combined Immunodeficiency, Athabascan Type 57 12 58
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Sensitivity to Ionizing Radiation 57 20
Severe Combined Immunodeficiency Due to Artemis Deficiency 12 58
Severe Combined Immunodeficiency, Athabaskan Type 12 58
Severe Combined Immunodeficiency, Athabascan-Type 29 6
Scid Due to Artemis Deficiency 12 58
Scid Due to Dclre1c Deficiency 12 58
Scid, Athabascan Type 12 58
Scid, Athabaskan Type 12 58
Rs-Scid 57 20
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Positive with Sensitivity to Ionizing Radiation 73
Severe Combined Immunodeficiency, Athabaskan-Type 71
Severe Combined Immunodeficiency Athabaskan Type 73
Artemis Deficiency 12
Athabascan Scid 73
Rsscid 73
Scida 73

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to dclre1c deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
variable phenotype
onset in early childhood
some patients may present with isolated antibody deficiency


HPO:

31
severe combined immunodeficiency with sensitivity to ionizing radiation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

UniProtKB/Swiss-Prot : 73 Severe combined immunodeficiency Athabaskan type: A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID.
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation: A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity.

MalaCards based summary : Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation, also known as severe combined immunodeficiency due to dclre1c deficiency, is related to telangiectasis and immune deficiency disease, and has symptoms including diarrhea An important gene associated with Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Busulfan and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include t cells, thymus and lymph node, and related phenotypes are verrucae and decreased circulating iga level

Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has material basis in mutation in the DCLRE1C gene on chromosome 10p13.

More information from OMIM: 602450

Related Diseases for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Diseases related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 telangiectasis 29.8 H2AC18 ERCC6 ATM
2 immune deficiency disease 28.9 RAG2 RAG1 LIG4 H2AC18 DCLRE1C ATM
3 ataxia-telangiectasia 28.2 XRCC5 TP53BP1 RAG1 PRKDC LIG4 DCLRE1C
4 severe combined immunodeficiency 28.2 XRCC6 XRCC5 XRCC4 RAG2 RAG1 PRKDC
5 combined immunodeficiency 28.2 XRCC6 XRCC5 XRCC4 RAG2 RAG1 PRKDC
6 seckel syndrome 27.2 XRCC6 XRCC5 XRCC4 TP53BP1 PRKDC NHEJ1
7 microcephaly 26.9 XRCC6 XRCC5 XRCC4 TP53BP1 RAG1 PRKDC
8 lig4 syndrome 26.9 XRCC6 XRCC5 XRCC4 TP53BP1 RAG2 RAG1
9 reticular dysgenesis 10.2 NHEJ1 DCLRE1C
10 t-b- severe combined immunodeficiency 10.2 RAG2 DCLRE1C
11 neonatal leukemia 10.2 RAG1 DCLRE1C
12 fanconi anemia, complementation group t 10.2 H2AC18 ERCC6
13 western equine encephalitis 10.1 RAG1 H2AC18
14 alpha thalassemia-x-linked intellectual disability syndrome 10.1 H2AC18 ERCC6
15 fanconi anemia, complementation group p 10.1 H2AC18 ERCC6
16 hemangioma of subcutaneous tissue 10.1 XRCC5 PRKDC
17 schuurs-hoeijmakers syndrome 10.1 RAG2 H2AC18
18 recombinase activating gene 1 deficiency 10.1 RAG2 RAG1
19 fanconi anemia, complementation group n 10.1 H2AC18 ERCC6
20 purine nucleoside phosphorylase deficiency 10.1 RAG1 NHEJ1 DCLRE1C
21 haverhill fever 10.1 RAG2 RAG1
22 combined cellular and humoral immune defects with granulomas 10.1 RAG2 RAG1
23 inflammatory bowel disease 18 10.1 RAG2 RAG1
24 epilepsy, idiopathic generalized 2 10.0 XRCC6 H2AC18
25 fanconi anemia, complementation group i 10.0 H2AC18 ERCC6
26 fanconi anemia, complementation group d1 10.0 H2AC18 ERCC6
27 immunodeficiency with hyper-igm, type 1 9.9 RAG2 RAG1 H2AC18
28 retinitis pigmentosa 23 9.9 RAG2 RAG1 H2AC18
29 oculomotor apraxia 9.9 XRCC4 ATM
30 xeroderma pigmentosum, complementation group a 9.9 H2AC18 ERCC6 ATM
31 rigid spine muscular dystrophy 1 9.9 RAG2 RAG1 H2AC18
32 ataxia and polyneuropathy, adult-onset 9.9
33 digeorge syndrome 9.9
34 epidermodysplasia verruciformis 1 9.9
35 sting-associated vasculopathy, infantile-onset 9.9
36 inflammatory bowel disease 9.9
37 sting-associated vasculopathy with onset in infancy 9.9
38 pneumonia 9.9
39 lymphopenia 9.9
40 autosomal genetic disease 9.9 H2AC18 ERCC6 ATM
41 spinocerebellar ataxia type 1 with axonal neuropathy 9.8 XRCC4 NHEJ1 H2AC18 ATM
42 immunodeficiency with hyper-igm, type 2 9.8 RAG1 H2AC18
43 cockayne syndrome 9.8 XRCC5 H2AC18 ERCC6
44 alpha-thalassemia/mental retardation syndrome, x-linked 9.8 XRCC6 XRCC5 PRKDC
45 dubowitz syndrome 9.8 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
46 riddle syndrome 9.8 TP53BP1 H2AC18 ERCC6
47 congenital nervous system abnormality 9.7 XRCC4 NHEJ1 LIG4 H2AC18 ERCC6
48 primary hyperoxaluria 9.7 TP53BP1 H2AC18 ERCC6
49 lynch syndrome 9.7 LIG4 H2AC18 ERCC6 ATM
50 bare lymphocyte syndrome, type ii 9.7 RAG2 RAG1 NHEJ1 LIG4 DCLRE1C

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:



Diseases related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation

Symptoms & Phenotypes for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Human phenotypes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 verrucae 58 31 frequent (33%) Frequent (79-30%) HP:0200043
2 decreased circulating iga level 58 31 frequent (33%) Frequent (79-30%) HP:0002720
3 decreased circulating igg level 58 31 frequent (33%) Frequent (79-30%) HP:0004315
4 recurrent opportunistic infections 58 31 frequent (33%) Frequent (79-30%) HP:0005390
5 recurrent upper and lower respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0200117
6 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
7 vitiligo 58 31 occasional (7.5%) Occasional (29-5%) HP:0001045
8 otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000388
9 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
10 recurrent aphthous stomatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011107
11 juvenile rheumatoid arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005681
12 recurrent mycobacterial infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0011274
13 recurrent gastroenteritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0031123
14 chronic oral candidiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009098
15 decreased proportion of cd3-positive t cells 58 31 occasional (7.5%) Occasional (29-5%) HP:0045080
16 recurrent viral infections 31 occasional (7.5%) HP:0004429
17 hashimoto thyroiditis 58 31 very rare (1%) Very rare (<4-1%) HP:0000872
18 recurrent upper respiratory tract infections 31 HP:0002788
19 autoimmunity 58 Occasional (29-5%)
20 pneumonia 31 HP:0002090
21 diarrhea 31 HP:0002014
22 oral ulcer 31 HP:0000155
23 severe combined immunodeficiency 31 HP:0004430
24 aplasia of the thymus 31 HP:0005359
25 recurrent bacterial infections 58 Frequent (79-30%)
26 severe viral infections 58 Occasional (29-5%)
27 panhypogammaglobulinemia 31 HP:0003139
28 absent tonsils 31 HP:0030813
29 lymph node hypoplasia 31 HP:0002732
30 genital ulcers 31 HP:0003249

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Ears:
otitis media

Abdomen Gastrointestinal:
diarrhea

Genitourinary External Genitalia Male:
genital ulcers

Immunology:
hypogammaglobulinemia
decreased numbers of b cells
absent thymus
small lymph nodes
reduced/absent cd3+ t cells
more
Respiratory Airways:
recurrent upper respiratory tract infections

Respiratory Lung:
pneumonia

Respiratory Nasopharynx:
absent tonsils

Genitourinary External Genitalia Female:
genital ulcers

Head And Neck Mouth:
oral ulcers

Clinical features from OMIM®:

602450 (Updated 05-Mar-2021)

UMLS symptoms related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:


diarrhea

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.32 ATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.32 ATM TP53BP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.32 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.32 DCLRE1C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.32 ATM DCLRE1C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.32 LIG4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.32 ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.32 DCLRE1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.32 DCLRE1C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.32 ATM LIG4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.32 ATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.32 LIG4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.32 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-160 10.32 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.32 TP53BP1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.32 TP53BP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.32 DCLRE1C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.32 TP53BP1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.32 TP53BP1 DCLRE1C
20 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.32 ATM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.32 ATM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.32 ATM LIG4 TP53BP1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.32 H2AC18
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.32 ATM DCLRE1C
25 Increased shRNA abundance (Z-score > 2) GR00366-A-87 10.32 DCLRE1C
26 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.32 DCLRE1C
27 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.32 LIG4 H2AC18
28 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 ERCC6 TP53BP1
29 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 ATM ERCC6 LIG4 PRKDC TP53BP1
30 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.72 ATM ERCC6 PRKDC TP53BP1 DCLRE1C XRCC4

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.26 ATM DCLRE1C ERCC6 LIG4 NHEJ1 PRKDC
2 growth/size/body region MP:0005378 10.21 ATM DCLRE1C ERCC6 LIG4 NHEJ1 PRKDC
3 endocrine/exocrine gland MP:0005379 10.2 ATM DCLRE1C LIG4 NHEJ1 PRKDC RAG1
4 hematopoietic system MP:0005397 10.18 ATM DCLRE1C ERCC6 LIG4 NHEJ1 PRKDC
5 immune system MP:0005387 10.1 ATM DCLRE1C ERCC6 LIG4 NHEJ1 PRKDC
6 homeostasis/metabolism MP:0005376 10.07 ATM ERCC6 LIG4 NHEJ1 PRKDC RAG1
7 mortality/aging MP:0010768 9.96 ATM ERCC6 LIG4 NHEJ1 PRKDC RAG1
8 neoplasm MP:0002006 9.9 ATM ERCC6 LIG4 NHEJ1 PRKDC RAG1
9 nervous system MP:0003631 9.65 ATM ERCC6 LIG4 NHEJ1 PRKDC RAG1
10 reproductive system MP:0005389 9.23 ATM LIG4 PRKDC RAG2 TP53BP1 XRCC4

Drugs & Therapeutics for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Drugs for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
2 Immunosuppressive Agents Phase 1, Phase 2
3 Immunologic Factors Phase 1, Phase 2
4 Alkylating Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II Feasibility Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan

Search NIH Clinical Center for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation

Genetic Tests for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Genetic tests related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Due to Dclre1c Deficiency 29 DCLRE1C
2 Severe Combined Immunodeficiency, Athabascan-Type 29

Anatomical Context for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

MalaCards organs/tissues related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

40
T Cells, Thymus, Lymph Node, B Cells, Bone Marrow, Bone, Skin

Publications for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Articles related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

(show all 21)
# Title Authors PMID Year
1
A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. 61 6 57
12055248 2002
2
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. 6 57
26476407 2015
3
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. 6 57
11336668 2001
4
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p. 57 61
10699181 2000
5
Oral and genital ulceration: a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency. 57 61
10456341 1999
6
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. 57
12569164 2003
7
Southwestern Athabaskan (Navajo and Apache) genetic diseases. 57
11258351 1999
8
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency. 57
9705945 1998
9
The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. 57
9443881 1998
10
DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. 57
7855601 1995
11
Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency. 57
8450050 1993
12
Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus. 57
1940786 1991
13
Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics. 57
1916741 1991
14
A severe combined immunodeficiency mutation in the mouse. 57
6823332 1983
15
Gene enrichment in an American Indian population: an excess of severe combined immunodeficiency disease. 57
6105560 1980
16
Single-Cell Isotope Dilution Analysis with LA-ICP-MS: A New Approach for Quantification of Nanoparticles in Single Cells. 61
32985178 2020
17
Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. 61
15811628 2005
18
Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation. 61
15699179 2005
19
Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease. 61
12224067 2002
20
Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans. 61
11360109 2001
21
Scida 61
10630909 2000

Variations for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

ClinVar genetic disease variations for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

6 (show top 50) (show all 276)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DCLRE1C NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) SNV Pathogenic 4665 rs121908156 10:14987109-14987109 10:14945110-14945110
2 DCLRE1C DCLRE1C, EX1-4DEL Deletion Pathogenic 4666
3 DCLRE1C DCLRE1C, EX5-6DEL Deletion Pathogenic 4667
4 DCLRE1C NM_001033855.3(DCLRE1C):c.972+1G>C SNV Pathogenic 4668 rs1564414523 10:14968841-14968841 10:14926842-14926842
5 DCLRE1C NM_001033855.3(DCLRE1C):c.917+1G>A SNV Pathogenic 4669 rs1564418254 10:14970014-14970014 10:14928015-14928015
6 DCLRE1C NM_001033855.3(DCLRE1C):c.362+1G>T SNV Pathogenic 4670 rs1564446526 10:14978536-14978536 10:14936537-14936537
7 DCLRE1C NM_001033855.3(DCLRE1C):c.780+1del Deletion Pathogenic 4671 rs786205074 10:14974852-14974852 10:14932853-14932853
8 DCLRE1C DCLRE1C, EX5-8DEL Deletion Pathogenic 4672
9 DCLRE1C NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) SNV Pathogenic 4673 rs121908157 10:14976460-14976460 10:14934461-14934461
10 DCLRE1C NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) Duplication Pathogenic 254216 rs886037924 10:14950816-14950817 10:14908817-14908818
11 DCLRE1C NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) SNV Pathogenic 254217 rs886037925 10:14987156-14987156 10:14945157-14945157
12 DCLRE1C NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) Deletion Pathogenic 4675 rs786200884 10:14951130-14951136 10:14909131-14909137
13 DCLRE1C NC_000010.11:g.(?_14945085)_(14954030_?)del Deletion Pathogenic 583822 10:14987084-14996029 10:14945085-14954030
14 DCLRE1C NC_000010.11:g.(?_14945085)_(14945209_?)del Deletion Pathogenic 584297 10:14987084-14987208 10:14945085-14945209
15 DCLRE1C NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) SNV Pathogenic 4665 rs121908156 10:14987109-14987109 10:14945110-14945110
16 DCLRE1C NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) SNV Pathogenic 4673 rs121908157 10:14976460-14976460 10:14934461-14934461
17 DCLRE1C NC_000010.11:g.(?_14945095)_(14954442_?)del Deletion Pathogenic 647472 10:14987094-14996441 10:14945095-14954442
18 DCLRE1C NC_000010.11:g.(?_14935443)_(14936613_?)del Deletion Pathogenic 649069 10:14977442-14978612 10:14935443-14936613
19 DCLRE1C NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter) SNV Pathogenic 657472 rs1340132582 10:14976717-14976717 10:14934718-14934718
20 DCLRE1C NC_000010.11:g.(?_14939800)_(14945199_?)del Deletion Pathogenic 660671 10:14981799-14987198 10:14939800-14945199
21 DCLRE1C NM_001033855.3(DCLRE1C):c.449dup (p.His151fs) Duplication Pathogenic 664358 rs1589070600 10:14977476-14977477 10:14935477-14935478
22 DCLRE1C NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) SNV Pathogenic 666082 rs1589050343 10:14974879-14974879 10:14932880-14932880
23 DCLRE1C NC_000010.11:g.(?_14945095)_(14945199_?)del Deletion Pathogenic 831845 10:14987094-14987198
24 DCLRE1C NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs) Duplication Pathogenic 852427 10:14976757-14976758 10:14934758-14934759
25 DCLRE1C NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter) SNV Pathogenic 852821 10:14978547-14978547 10:14936548-14936548
26 DCLRE1C NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs) Deletion Pathogenic 861704 10:14976429-14976429 10:14934430-14934430
27 DCLRE1C NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) SNV Pathogenic 802564 rs1589136659 10:14987144-14987144 10:14945145-14945145
28 DCLRE1C NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) Deletion Pathogenic 936913 10:14977465-14977465 10:14935466-14935466
29 DCLRE1C NC_000010.11:g.14935443_14954030del Deletion Pathogenic 944601
30 DCLRE1C NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) SNV Pathogenic 958957 10:14951221-14951221 10:14909222-14909222
31 DCLRE1C NM_001033855.3(DCLRE1C):c.109+1G>T SNV Pathogenic 969751 10:14995900-14995900 10:14953901-14953901
32 DCLRE1C NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter) SNV Pathogenic 951880 10:14951171-14951171 10:14909172-14909172
33 DCLRE1C NM_001033855.3(DCLRE1C):c.162-1G>T SNV Likely pathogenic 957122 10:14987189-14987189 10:14945190-14945190
34 DCLRE1C NM_001033855.3(DCLRE1C):c.780+1G>C SNV Likely pathogenic 843323 10:14974852-14974852 10:14932853-14932853
35 DCLRE1C NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) Indel Likely pathogenic 649045 rs1589064324 10:14976735-14976747 10:14934736-14934748
36 DCLRE1C NM_001033855.3(DCLRE1C):c.678+5G>T SNV Uncertain significance 649046 rs750695358 10:14976374-14976374 10:14934375-14934375
37 DCLRE1C NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) SNV Uncertain significance 661326 rs752159513 10:14995969-14995969 10:14953970-14953970
38 DCLRE1C NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys) SNV Uncertain significance 663225 rs1589019320 10:14970063-14970063 10:14928064-14928064
39 DCLRE1C NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys) SNV Uncertain significance 657512 rs1588890065 10:14950607-14950607 10:14908608-14908608
40 DCLRE1C NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) SNV Uncertain significance 657924 rs141357439 10:14950519-14950519 10:14908520-14908520
41 DCLRE1C NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala) SNV Uncertain significance 658734 rs1588894157 10:14951059-14951059 10:14909060-14909060
42 DCLRE1C NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met) SNV Uncertain significance 659524 rs751811224 10:14950652-14950652 10:14908653-14908653
43 DCLRE1C NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) SNV Uncertain significance 659975 rs769187936 10:14950777-14950777 10:14908778-14908778
44 DCLRE1C NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys) SNV Uncertain significance 660303 rs769948633 10:14951142-14951142 10:14909143-14909143
45 DCLRE1C NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) SNV Uncertain significance 666119 rs1279014555 10:14976749-14976749 10:14934750-14934750
46 DCLRE1C NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly) SNV Uncertain significance 802563 rs1588892169 10:14950795-14950795 10:14908796-14908796
47 DCLRE1C NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys) SNV Uncertain significance 650022 rs1051813612 10:14950583-14950583 10:14908584-14908584
48 DCLRE1C NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) SNV Uncertain significance 299319 rs374596045 10:14974896-14974896 10:14932897-14932897
49 DCLRE1C NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr) SNV Uncertain significance 650756 rs748516669 10:14970027-14970027 10:14928028-14928028
50 DCLRE1C NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) SNV Uncertain significance 653423 rs1252776122 10:14976468-14976468 10:14934469-14934469

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

73
# Symbol AA change Variation ID SNP ID
1 DCLRE1C p.Gly118Val VAR_023078
2 DCLRE1C p.Gly135Glu VAR_023079

Expression for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation.

Pathways for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Pathways related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 XRCC6 XRCC5 XRCC4 TP53BP1 PRKDC NHEJ1
2
Show member pathways
12.47 XRCC6 XRCC5 XRCC4 PRKDC LIG4 ERCC6
3 12.23 XRCC6 XRCC5 TP53BP1 PRKDC NHEJ1 LIG4
4
Show member pathways
11.82 RAG2 RAG1 ATM
5
Show member pathways
11.64 XRCC6 XRCC5 XRCC4 TP53BP1 PRKDC NHEJ1
6 11.49 XRCC6 XRCC5 ATM
7 11.41 XRCC6 XRCC5 PRKDC
8 11.37 TP53BP1 PRKDC DCLRE1C ATM
9 11.21 RAG2 RAG1 DCLRE1C
10 11.13 XRCC6 XRCC5 PRKDC ATM
11 10.97 RAG2 RAG1
12 10.97 XRCC4 PRKDC ATM
13 10.81 XRCC6 XRCC5 XRCC4 PRKDC LIG4 DCLRE1C

GO Terms for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Cellular components related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.18 XRCC6 XRCC5 XRCC4 TP53BP1 RAG2 RAG1
2 nucleoplasm GO:0005654 10.03 XRCC6 XRCC5 XRCC4 TP53BP1 RAG2 RAG1
3 protein-DNA complex GO:0032993 9.63 XRCC6 XRCC5 PRKDC
4 condensed chromosome GO:0000793 9.52 XRCC4 LIG4
5 site of DNA damage GO:0090734 9.51 XRCC5 ERCC6
6 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.5 XRCC4 PRKDC LIG4
7 nuclear telomere cap complex GO:0000783 9.49 XRCC6 XRCC5
8 DNA repair complex GO:1990391 9.48 TP53BP1 ATM
9 Ku70:Ku80 complex GO:0043564 9.43 XRCC6 XRCC5
10 chromosome, telomeric region GO:0000781 9.43 XRCC6 XRCC5 TP53BP1 PRKDC LIG4 ATM
11 DNA recombinase complex GO:0097519 9.4 RAG2 RAG1
12 DNA ligase IV complex GO:0032807 9.33 XRCC4 NHEJ1 LIG4
13 nonhomologous end joining complex GO:0070419 9.17 XRCC6 XRCC5 XRCC4 PRKDC NHEJ1 LIG4

Biological processes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.08 XRCC6 XRCC5 PRKDC DCLRE1C ATM
2 cellular response to DNA damage stimulus GO:0006974 10.02 XRCC6 XRCC5 XRCC4 TP53BP1 PRKDC NHEJ1
3 brain development GO:0007420 9.97 XRCC6 XRCC5 PRKDC ATM
4 response to ionizing radiation GO:0010212 9.88 PRKDC NHEJ1 LIG4 DCLRE1C ATM
5 B cell differentiation GO:0030183 9.86 RAG2 RAG1 NHEJ1 DCLRE1C
6 DNA recombination GO:0006310 9.86 XRCC6 XRCC5 XRCC4 RAG2 RAG1 PRKDC
7 DNA duplex unwinding GO:0032508 9.85 XRCC6 XRCC5 ERCC6
8 telomere maintenance GO:0000723 9.85 XRCC6 XRCC5 PRKDC DCLRE1C ATM
9 double-strand break repair GO:0006302 9.85 XRCC5 XRCC4 PRKDC NHEJ1 LIG4 DCLRE1C
10 DNA repair GO:0006281 9.85 XRCC6 XRCC5 XRCC4 TP53BP1 PRKDC NHEJ1
11 T cell differentiation in thymus GO:0033077 9.83 RAG2 RAG1 PRKDC LIG4
12 positive regulation of type I interferon production GO:0032481 9.81 XRCC6 XRCC5 PRKDC
13 thymus development GO:0048538 9.8 RAG1 PRKDC ATM
14 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.79 PRKDC ERCC6 ATM
15 DNA damage checkpoint GO:0000077 9.77 TP53BP1 ERCC6 ATM
16 cellular response to gamma radiation GO:0071480 9.77 XRCC6 XRCC5 ATM
17 activation of innate immune response GO:0002218 9.76 XRCC6 XRCC5 PRKDC
18 response to gamma radiation GO:0010332 9.75 PRKDC LIG4 ERCC6
19 response to X-ray GO:0010165 9.74 XRCC4 LIG4 ERCC6
20 cellular response to X-ray GO:0071481 9.73 XRCC6 XRCC5 TP53BP1 ATM
21 regulation of smooth muscle cell proliferation GO:0048660 9.72 XRCC6 XRCC5 PRKDC
22 double-strand break repair via classical nonhomologous end joining GO:0097680 9.71 XRCC6 LIG4 ERCC6
23 establishment of integrated proviral latency GO:0075713 9.71 XRCC6 XRCC5 XRCC4 LIG4
24 immunoglobulin V(D)J recombination GO:0033152 9.69 XRCC4 PRKDC LIG4
25 chromosome organization GO:0051276 9.68 LIG4 DCLRE1C
26 cellular response to lithium ion GO:0071285 9.68 XRCC4 LIG4
27 single strand break repair GO:0000012 9.67 LIG4 ERCC6
28 pre-B cell allelic exclusion GO:0002331 9.67 RAG2 RAG1 ATM
29 DNA ligation GO:0006266 9.66 XRCC6 LIG4
30 T cell lineage commitment GO:0002360 9.66 RAG2 PRKDC
31 DNA ligation involved in DNA repair GO:0051103 9.65 XRCC4 LIG4
32 positive regulation of lymphocyte differentiation GO:0045621 9.65 XRCC6 PRKDC
33 T cell receptor V(D)J recombination GO:0033153 9.65 PRKDC LIG4
34 B cell lineage commitment GO:0002326 9.64 RAG2 PRKDC
35 positive regulation of ligase activity GO:0051351 9.63 XRCC4 NHEJ1
36 pro-B cell differentiation GO:0002328 9.63 PRKDC LIG4
37 cellular hyperosmotic salinity response GO:0071475 9.61 XRCC6 XRCC5
38 small-subunit processome assembly GO:0034462 9.61 XRCC5 PRKDC
39 V(D)J recombination GO:0033151 9.43 RAG2 RAG1 PRKDC LIG4 DCLRE1C ATM
40 double-strand break repair via nonhomologous end joining GO:0006303 9.28 XRCC6 XRCC5 XRCC4 TP53BP1 PRKDC NHEJ1

Molecular functions related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.04 XRCC6 XRCC5 PRKDC LIG4 ERCC6 ATM
2 ATP binding GO:0005524 10.01 XRCC6 XRCC5 PRKDC LIG4 ERCC6 ATM
3 sequence-specific DNA binding GO:0043565 9.86 TP53BP1 RAG2 RAG1 ERCC6
4 protein-containing complex binding GO:0044877 9.81 XRCC6 XRCC5 ERCC6 ATM
5 helicase activity GO:0004386 9.72 XRCC6 XRCC5 ERCC6
6 double-stranded DNA binding GO:0003690 9.7 XRCC6 XRCC5 PRKDC
7 protein C-terminus binding GO:0008022 9.65 XRCC6 XRCC5 XRCC4 LIG4 ERCC6
8 DNA helicase activity GO:0003678 9.63 XRCC6 XRCC5 ERCC6
9 DNA-dependent ATPase activity GO:0008094 9.54 XRCC6 XRCC5 ERCC6
10 telomeric DNA binding GO:0042162 9.5 XRCC6 XRCC5 TP53BP1
11 U3 snoRNA binding GO:0034511 9.49 XRCC5 PRKDC
12 double-stranded telomeric DNA binding GO:0003691 9.48 XRCC6 XRCC5
13 damaged DNA binding GO:0003684 9.46 XRCC6 XRCC5 TP53BP1 DCLRE1C
14 5'-deoxyribose-5-phosphate lyase activity GO:0051575 9.43 XRCC6 XRCC5
15 DNA-dependent protein kinase activity GO:0004677 9.4 PRKDC ATM
16 DNA binding GO:0003677 9.4 XRCC6 XRCC5 XRCC4 TP53BP1 RAG2 RAG1
17 DNA end binding GO:0045027 9.13 XRCC6 XRCC5 NHEJ1

Sources for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....