NHEJ1-SCID
MCID: SVR032
MIFTS: 29

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (NHEJ1-SCID)

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

Aliases & Classifications for Severe Combined Immunodeficiency with Microcephaly, Growth...

MalaCards integrated aliases for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

Name: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 57 36 29 13 6 39 70
Nhej1 Syndrome 57 72
Autosomal Recessive T-Cell-Negative, B Cell-Negative, Nk Cell-Positive, Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation 72
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 57
Combined Immunodeficiency-Microcephaly-Growth Retardation-Sensitivity to Ionizing Radiation Syndrome 58
Severe Combined Immunodeficiency Due to Nhej1 Deficiency 72
Cernunnos-Xlf Deficiency 58
Cernunnos Deficiency 58
Nhej1 Deficiency 58
Cernunnos Xlfd 58
Nhej1-Scid 72

Characteristics:

Orphanet epidemiological data:

58
cernunnos-xlf deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 611291
KEGG 36 H00924
ICD10 via Orphanet 33 D81.1
Orphanet 58 ORPHA169079
UMLS 70 C1969799

Summaries for Severe Combined Immunodeficiency with Microcephaly, Growth...

UniProtKB/Swiss-Prot : 72 Severe combined immunodeficiency due to NHEJ1 deficiency: SCID refers to 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 with SCID 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. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations.

MalaCards based summary : Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation, also known as nhej1 syndrome, is related to nijmegen breakage syndrome and severe combined immunodeficiency. An important gene associated with Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation is NHEJ1 (Non-Homologous End Joining Factor 1), and among its related pathways/superpathways is Non-homologous end-joining. Related phenotypes are microcephaly and growth delay

KEGG : 36 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation is a syndrome associated with T and B cell-combined lymphocytopenia, growth retardation, microcephaly, and increased cellular radiosensitivity. Mutations in human NHEJ1 can lead to lymphocytopenia due to its role in V(D)J recombination in the immune system. This disease shows features common with the ones observed in LIG4 deficiency or Nijmegen breakage syndrome.

Wikipedia : 73 Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to... more...

More information from OMIM: 611291

Related Diseases for Severe Combined Immunodeficiency with Microcephaly, Growth...

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:



Diseases related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation

Symptoms & Phenotypes for Severe Combined Immunodeficiency with Microcephaly, Growth...

Human phenotypes related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

58 31 (showing 18, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
3 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
4 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
5 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
6 bird-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000320
7 b lymphocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010976
8 t lymphocytopenia 31 hallmark (90%) HP:0005403
9 decreased circulating antibody level 31 hallmark (90%) HP:0004313
10 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
11 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
12 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
13 autoimmunity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002960
14 recurrent bacterial infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002718
15 recurrent viral infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0004429
16 decreased antibody level in blood 58 Very frequent (99-80%)
17 lymphopenia 58 Very frequent (99-80%)
18 decrease in t cell count 58 Very frequent (99-80%)

Clinical features from OMIM®:

611291 (Updated 20-May-2021)

Drugs & Therapeutics for Severe Combined Immunodeficiency with Microcephaly, Growth...

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation

Genetic Tests for Severe Combined Immunodeficiency with Microcephaly, Growth...

Genetic tests related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 29 NHEJ1

Anatomical Context for Severe Combined Immunodeficiency with Microcephaly, Growth...

Publications for Severe Combined Immunodeficiency with Microcephaly, Growth...

Articles related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

(showing 6, show less)
# Title Authors PMID Year
1
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. 6 57
16439204 2006
2
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. 6
20597108 2010
3
Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. 57
16571728 2006
4
XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. 57
16439205 2006
5
Nonhomologous end joining and V(D)J recombination require an additional factor. 57
12604777 2003
6
Nijmegen breakage syndrome (NBS). 61
22373003 2012

Variations for Severe Combined Immunodeficiency with Microcephaly, Growth...

ClinVar genetic disease variations for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

6 (showing 45, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NHEJ1 NM_024782.2(NHEJ1):c.169C>G (p.Arg57Gly) SNV Pathogenic 981 rs118204451 GRCh37: 2:220022916-220022916
GRCh38: 2:219158194-219158194
2 NHEJ1 NM_024782.2(NHEJ1):c.367T>C (p.Cys123Arg) SNV Pathogenic 982 rs118204452 GRCh37: 2:220022217-220022217
GRCh38: 2:219157495-219157495
3 NHEJ1 NM_024782.2(NHEJ1):c.177+1_177+3delinsTT Indel Pathogenic 984 rs886037606 GRCh37: 2:220022905-220022907
GRCh38: 2:219158183-219158185
4 NHEJ1 NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter) SNV Pathogenic 845632 GRCh37: 2:220022215-220022215
GRCh38: 2:219157493-219157493
5 NHEJ1 NM_024782.2(NHEJ1):c.643C>T (p.Gln215Ter) SNV Pathogenic 536739 rs1553542017 GRCh37: 2:219942874-219942874
GRCh38: 2:219078152-219078152
6 NHEJ1 NM_024782.2(NHEJ1):c.532C>T (p.Arg178Ter) SNV Pathogenic 983 rs118204453 GRCh37: 2:220011458-220011458
GRCh38: 2:219146736-219146736
7 NHEJ1 NM_024782.3(NHEJ1):c.589-2A>G SNV Likely pathogenic 843941 GRCh37: 2:219942930-219942930
GRCh38: 2:219078208-219078208
8 NHEJ1 NM_024782.3(NHEJ1):c.178-1G>A SNV Likely pathogenic 947055 GRCh37: 2:220022407-220022407
GRCh38: 2:219157685-219157685
9 NHEJ1 NM_024782.3(NHEJ1):c.242G>A (p.Arg81His) SNV Uncertain significance 968285 GRCh37: 2:220022342-220022342
GRCh38: 2:219157620-219157620
10 NHEJ1 NM_024782.2(NHEJ1):c.700G>A (p.Gly234Ser) SNV Uncertain significance 536738 rs191958428 GRCh37: 2:219942817-219942817
GRCh38: 2:219078095-219078095
11 NHEJ1 NM_024782.2(NHEJ1):c.825+3G>A SNV Uncertain significance 626144 rs750458375 GRCh37: 2:219941965-219941965
GRCh38: 2:219077243-219077243
12 NHEJ1 NM_024782.2(NHEJ1):c.506A>G (p.Glu169Gly) SNV Uncertain significance 640419 rs1244437243 GRCh37: 2:220012402-220012402
GRCh38: 2:219147680-219147680
13 NHEJ1 NM_024782.2(NHEJ1):c.41C>T (p.Ala14Val) SNV Uncertain significance 641230 rs747032828 GRCh37: 2:220023044-220023044
GRCh38: 2:219158322-219158322
14 NHEJ1 NM_024782.2(NHEJ1):c.702C>T (p.Gly234=) SNV Uncertain significance 653961 rs754484855 GRCh37: 2:219942815-219942815
GRCh38: 2:219078093-219078093
15 NHEJ1 NM_024782.2(NHEJ1):c.351C>G (p.Phe117Leu) SNV Uncertain significance 660371 rs1249067213 GRCh37: 2:220022233-220022233
GRCh38: 2:219157511-219157511
16 NHEJ1 NM_024782.2(NHEJ1):c.170G>A (p.Arg57Gln) SNV Uncertain significance 235289 rs61753339 GRCh37: 2:220022915-220022915
GRCh38: 2:219158193-219158193
17 NHEJ1 NM_024782.3(NHEJ1):c.259G>A (p.Ala87Thr) SNV Uncertain significance 837303 GRCh37: 2:220022325-220022325
GRCh38: 2:219157603-219157603
18 NHEJ1 NM_024782.3(NHEJ1):c.529+9A>T SNV Uncertain significance 853183 GRCh37: 2:220012370-220012370
GRCh38: 2:219147648-219147648
19 NHEJ1 NM_024782.3(NHEJ1):c.557A>G (p.Glu186Gly) SNV Uncertain significance 999715 GRCh37: 2:220011433-220011433
GRCh38: 2:219146711-219146711
20 NHEJ1 NM_024782.3(NHEJ1):c.896G>A (p.Ser299Asn) SNV Uncertain significance 1007398 GRCh37: 2:219941107-219941107
GRCh38: 2:219076385-219076385
21 NHEJ1 NM_024782.3(NHEJ1):c.860C>T (p.Ser287Leu) SNV Uncertain significance 1008109 GRCh37: 2:219941143-219941143
GRCh38: 2:219076421-219076421
22 NHEJ1 NM_024782.2(NHEJ1):c.172G>T (p.Ala58Ser) SNV Uncertain significance 641205 rs142684479 GRCh37: 2:220022913-220022913
GRCh38: 2:219158191-219158191
23 NHEJ1 NM_024782.2(NHEJ1):c.256G>A (p.Asp86Asn) SNV Uncertain significance 656383 rs976825540 GRCh37: 2:220022328-220022328
GRCh38: 2:219157606-219157606
24 NHEJ1 NM_024782.3(NHEJ1):c.464C>T (p.Thr155Met) SNV Uncertain significance 1022313 GRCh37: 2:220012444-220012444
GRCh38: 2:219147722-219147722
25 NHEJ1 NM_024782.3(NHEJ1):c.326G>A (p.Arg109Gln) SNV Uncertain significance 1036162 GRCh37: 2:220022258-220022258
GRCh38: 2:219157536-219157536
26 NHEJ1 NM_024782.3(NHEJ1):c.588+5G>A SNV Uncertain significance 1038158 GRCh37: 2:220011397-220011397
GRCh38: 2:219146675-219146675
27 NHEJ1 NM_024782.2(NHEJ1):c.299T>C (p.Val100Ala) SNV Uncertain significance 435983 rs201186145 GRCh37: 2:220022285-220022285
GRCh38: 2:219157563-219157563
28 NHEJ1 NM_024782.3(NHEJ1):c.794C>T (p.Pro265Leu) SNV Uncertain significance 834545 GRCh37: 2:219941999-219941999
GRCh38: 2:219077277-219077277
29 NHEJ1 NM_024782.3(NHEJ1):c.655A>G (p.Met219Val) SNV Uncertain significance 856388 GRCh37: 2:219942862-219942862
GRCh38: 2:219078140-219078140
30 NHEJ1 NM_024782.3(NHEJ1):c.30G>A (p.Met10Ile) SNV Uncertain significance 964427 GRCh37: 2:220023055-220023055
GRCh38: 2:219158333-219158333
31 NHEJ1 NM_024782.3(NHEJ1):c.499T>C (p.Tyr167His) SNV Uncertain significance 1052017 GRCh37: 2:220012409-220012409
GRCh38: 2:219147687-219147687
32 NHEJ1 NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn) SNV Uncertain significance 1054498 GRCh37: 2:219942045-219942045
GRCh38: 2:219077323-219077323
33 NHEJ1 NM_024782.3(NHEJ1):c.703G>A (p.Ala235Thr) SNV Uncertain significance 1060729 GRCh37: 2:219942814-219942814
GRCh38: 2:219078092-219078092
34 NHEJ1 NM_024782.2(NHEJ1):c.747C>T (p.Ile249=) SNV Likely benign 707091 rs142143860 GRCh37: 2:219942046-219942046
GRCh38: 2:219077324-219077324
35 NHEJ1 NM_024782.2(NHEJ1):c.529+8G>C SNV Likely benign 765587 rs376407655 GRCh37: 2:220012371-220012371
GRCh38: 2:219147649-219147649
36 NHEJ1 NM_024782.2(NHEJ1):c.837C>A (p.Gly279=) SNV Likely benign 795327 rs145592698 GRCh37: 2:219941166-219941166
GRCh38: 2:219076444-219076444
37 NHEJ1 NM_024782.2(NHEJ1):c.57A>G (p.Ala19=) SNV Likely benign 435984 rs61757394 GRCh37: 2:220023028-220023028
GRCh38: 2:219158306-219158306
38 NHEJ1 NM_024782.2(NHEJ1):c.783C>G (p.Val261=) SNV Likely benign 509440 rs374469478 GRCh37: 2:219942010-219942010
GRCh38: 2:219077288-219077288
39 NHEJ1 NM_024782.2(NHEJ1):c.707-7A>T SNV Benign 435982 rs150521220 GRCh37: 2:219942093-219942093
GRCh38: 2:219077371-219077371
40 NHEJ1 NM_024782.2(NHEJ1):c.706+7C>A SNV Benign 138521 rs6720495 GRCh37: 2:219942804-219942804
GRCh38: 2:219078082-219078082
41 NHEJ1 NM_024782.2(NHEJ1):c.40G>A (p.Ala14Thr) SNV Benign 138520 rs34689457 GRCh37: 2:220023045-220023045
GRCh38: 2:219158323-219158323
42 NHEJ1 NM_024782.2(NHEJ1):c.767A>T (p.Gln256Leu) SNV Benign 378272 rs35270667 GRCh37: 2:219942026-219942026
GRCh38: 2:219077304-219077304
43 NHEJ1 NM_024782.2(NHEJ1):c.258C>T (p.Asp86=) SNV Benign 211594 rs113689741 GRCh37: 2:220022326-220022326
GRCh38: 2:219157604-219157604
44 NHEJ1 NM_024782.2(NHEJ1):c.451A>C (p.Arg151=) SNV Benign 468860 rs141996352 GRCh37: 2:220012457-220012457
GRCh38: 2:219147735-219147735
45 NHEJ1 NM_024782.2(NHEJ1):c.560A>G (p.Asn187Ser) SNV Benign 568300 rs146861504 GRCh37: 2:220011430-220011430
GRCh38: 2:219146708-219146708

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 NHEJ1 p.Arg57Gly VAR_025704 rs118204451
2 NHEJ1 p.Cys123Arg VAR_025705 rs118204452

Expression for Severe Combined Immunodeficiency with Microcephaly, Growth...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation.

Pathways for Severe Combined Immunodeficiency with Microcephaly, Growth...

Pathways related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation according to KEGG:

36 (showing 1, show less)
# Name Kegg Source Accession
1 Non-homologous end-joining hsa03450

GO Terms for Severe Combined Immunodeficiency with Microcephaly, Growth...

Sources for Severe Combined Immunodeficiency with Microcephaly, Growth...

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