Disease Browser
Parent Node: Growth Disorders (D006130) Parent Node: Microcephaly (D008831) Parent Node: Severe Combined Immunodeficiency (D016511) ..Starting node Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970) Child Nodes:
Sister Nodes: ..Athabaskan severe combined immunodeficiency (C536786) ..Bare lymphocyte syndrome 2 (C537079) ..Bare Lymphocyte Syndrome, Type I (C565759) ..Bare Lymphocyte Syndrome, Type II, Complementation Group A (C565910) ..Combined Cellular And Humoral Immune Defects With Granulomas (C567115) ..HLA class 1 deficiency (C538465) ..Immune dysfunction with T-cell inactivation due to calcium entry defect 1 (C557826) ..Immune dysfunction with T-cell inactivation due to calcium entry defect 2 (C557827) ..Reticular dysgenesis (C538361) ..Reticuloendotheliosis, familial, with eosinophilia (C538564) ..Reticuloendotheliosis, X-linked (C538362) ..Severe combined immunodeficiency due to adenosine deaminase deficiency (C531816) ..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970) ..Severe combined immunodeficiency with sensitivity to ionizing radiation (C537589) ..Severe combined immunodeficiency, atypical (C537590) ..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive (C563822) ..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative (C563440) ..Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency (C565984) ..T-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781) ..X-Linked Combined Immunodeficiency Diseases (D053632) ..ZAP70 deficiency (C536722) UMLS . MedGen , OMIM , CTD
Term ID: 10155 Name: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Definition: Alternative IDs: OMIM:611291 ParentIDs: MESH:D006130|MESH:D008831|MESH:D016511 TreeNumbers: C05.660.207.620/C566970 |C10.500.507.400.500/C566970 |C16.131.621.207.620/C566970 |C16.131.666.507.400.500/C566970 |C16.614.815/C566970 |C18.452.284.800/C566970 |C20.673.815/C566970 |C23.550.393/C566970 Synonyms: NHEJ1 Syndrome |NHEJ1 SYNDROME SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED |SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, and Sensitivity to Ionizing Radiation d Slim Mappings: Congenital abnormality|Immune system disease|Infant-newborn disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process) Reference:
MedGen: C566970
MeSH: C566970 OMIM: 611291 ; Genes: NHEJ1 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_024782.2(NHEJ1):c.532C>T (p.Arg178Ter) 79840 NHEJ1 Pathogenic 118204453 RCV000001034 ; N MedGen:C1969799,OMIM:611291,ORPHA:169079 2 220011458 220011458 NM_024782.2:c.532C>T NP_079058.1:p.Arg178Ter NC_000002.11:g.220011458G>A OMIM Allelic Variant:611290.0003 C1969799 611291 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NM_024782.2(NHEJ1):c.367T>C (p.Cys123Arg) 79840 NHEJ1 Pathogenic 118204452 RCV000001033 ; N MedGen:C1969799,OMIM:611291,ORPHA:169079 2 220022217 220022217 NM_024782.2:c.367T>C NP_079058.1:p.Cys123Arg NC_000002.11:g.220022217A>G OMIM Allelic Variant:611290.0002 C1969799 611291 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NM_024782.2(NHEJ1):c.169C>G (p.Arg57Gly) 79840 NHEJ1 Pathogenic 118204451 RCV000001032 ; N MedGen:C1969799,OMIM:611291,ORPHA:169079 2 220022916 220022916 NM_024782.2:c.169C>G NP_079058.1:p.Arg57Gly NC_000002.11:g.220022916G>C OMIM Allelic Variant:611290.0001 C1969799 611291 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 
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