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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Granulomatous Disease, Chronic (D006105)
Parent Node: Severe Combined Immunodeficiency (D016511)
..Starting node ..Combined Cellular And Humoral Immune Defects With Granulomas (C567115)
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) 1
..ZAP70 deficiency (C536722)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2523

Name:

Combined Cellular And Humoral Immune Defects With Granulomas

Definition:

Alternative IDs:

OMIM:233650

ParentIDs:

MESH:D006105|MESH:D016511

TreeNumbers:

C15.378.553.774.535/C567115 |C16.320.322.233/C567115 |C16.614.815/C567115 |C18.452.284.800/C567115 |C20.673.774.535/C567115 |C20.673.815/C567115

Synonyms:

CCHIDG

Slim Mappings:

Blood disease|Genetic disease (inborn)|Immune system disease|Infant-newborn disease|Metabolic disease

Reference:

MedGen: C567115
MeSH: C567115
OMIM: 233650;

Genes: RAG1; RAG2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0010976	B lymphocytopenia
4	HP:0005387	Combined immunodeficiency
5	HP:0004315	Decreased circulating IgG level
6	HP:0002205	Recurrent respiratory infections
7	HP:0005403	T lymphocytopenia

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
NM_000448.2(RAG1):c.940C>T (p.Arg314Trp)	5896	RAG1	Pathogenic	121918568	RCV000014042;	N	MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36595794	36595794	NM_000448.2:c.940C>T	NP_000439.1:p.Arg314Trp	NC_000011.9:g.36595794C>T	OMIM Allelic Variant:179615.0018	C2673536 233650 Combined cellular and humoral immune defects with granulomas
NM_000448.2(RAG1):c.1519C>T (p.Arg507Trp)	5896	RAG1	Pathogenic	104894298	RCV000014043;	N	MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36596373	36596373	NM_000448.2:c.1519C>T	NP_000439.1:p.Arg507Trp	NC_000011.9:g.36596373C>T	OMIM Allelic Variant:179615.0019	C2673536 233650 Combined cellular and humoral immune defects with granulomas; C1801959 603554 Histiocytic medullary reticulosis
NM_000448.2(RAG1):c.1566G>T (p.Trp522Cys)	5896	RAG1	Likely pathogenic;Pathogenic	193922461	RCV000022745;	N	MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36596420	36596420	NM_000448.2:c.1566G>T	NP_000439.1:p.Trp522Cys	NC_000011.9:g.36596420G>T	OMIM Allelic Variant:179615.0024	C2673536 233650 Combined cellular and humoral immune defects with granulomas
NM_000448.2(RAG1):c.2210G>A (p.Arg737His)	5896	RAG1	Pathogenic	104894286	RCV000014032; RCV000014043;	N	MedGen:C1801959,OMIM:603554,ORPHA:39041,SNOMED CT:307650006; MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36597064	36597064	NM_000448.2:c.2210G>A	NP_000439.1:p.Arg737His	NC_000011.9:g.36597064G>A	OMIM Allelic Variant:179615.0011,OMIM Allelic Variant:179615.0019	C2673536 233650 Combined cellular and humoral immune defects with granulomas; C1801959 603554 Histiocytic medullary reticulosis
NM_000448.2(RAG1):c.2210G>A (p.Arg737His)	5896	RAG1	Pathogenic	104894286	RCV000014032; RCV000014043;	N	MedGen:C1801959,OMIM:603554,ORPHA:39041,SNOMED CT:307650006; MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36597064	36597064	NM_000448.2:c.2210G>A	NP_000439.1:p.Arg737His	NC_000011.9:g.36597064G>A	OMIM Allelic Variant:179615.0011,OMIM Allelic Variant:179615.0019	C2673536 233650 Combined cellular and humoral immune defects with granulomas; C1801959 603554 Histiocytic medullary reticulosis
NM_000448.2(RAG1):c.2333G>A (p.Arg778Gln)	5896	RAG1	Pathogenic	121918569	RCV000014044;	N	MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36597187	36597187	NM_000448.2:c.2333G>A	NP_000439.1:p.Arg778Gln	NC_000011.9:g.36597187G>A	OMIM Allelic Variant:179615.0020	C2673536 233650 Combined cellular and humoral immune defects with granulomas
NM_000448.2(RAG1):c.2923C>T (p.Arg975Trp)	5896	RAG1	Pathogenic	121918570	RCV000014045;	N	MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36597777	36597777	NM_000448.2:c.2923C>T	NP_000439.1:p.Arg975Trp	NC_000011.9:g.36597777C>T	OMIM Allelic Variant:179615.0021	C2673536 233650 Combined cellular and humoral immune defects with granulomas
NM_000536.3(RAG2):c.1352G>C (p.Gly451Ala)	5897	RAG2	Pathogenic	121918575	RCV000014020;	N	MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36614367	36614367	NM_000536.3:c.1352G>C	NP_000527.2:p.Gly451Ala	NC_000011.9:g.36614367C>G	OMIM Allelic Variant:179616.0010	C2673536 233650 Combined cellular and humoral immune defects with granulomas
NM_000536.3(RAG2):c.230C>A (p.Thr77Asn)	5897	RAG2	Pathogenic	121918574	RCV000014019;	N	MedGen:C2673536,OMIM:233650,ORPHA:157949	11	36615489	36615489	NM_000536.3:c.230C>A	NP_000527.2:p.Thr77Asn	NC_000011.9:g.36615489G>T	OMIM Allelic Variant:179616.0009	C2673536 233650 Combined cellular and humoral immune defects with granulomas