MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Immunologic Deficiency Syndromes (D007153)
..Starting node ..IMMUNODEFICIENCY 42 (OMIM:616622)
Child Nodes:
Sister Nodes:
..Activated PI3K-delta Syndrome (C585640)
..Agammaglobulinemia (D000361) 19
..Antibody Deficiency due to Defect in CD19 (C566275)
..Ataxia Telangiectasia (D001260) 6
..AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..C1q DEFICIENCY (OMIM:613652)
..C9 Deficiency (C565165)
..C9 Deficiency with Dermatomyositis (C565166)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Cd4+ Lymphocyte Deficiency (C566079)
..CD8 Deficiency, Familial (C563824)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Combined Inflammatory and Immunologic Defect (C565684)
..Common Variable Immunodeficiency (D017074)
..COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..Complement Component 3 Deficiency, Autosomal Recessive (C565169)
..Complement Component 4, Partial Deficiency Of (C565168)
..Complement Component 4a Deficiency (C565167)
..COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..Complement component 5 deficiency (C537005)
..Complement Component 6 Deficiency (C567307)
..Complement Component 7 Deficiency (C566443)
..COMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..Complement Component C1s Deficiency (C565170)
..COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..Complement Factor D Deficiency (C565027)
..Davenport Donlan syndrome (C535988)
..Deltaretrovirus Infections (D006800) 4
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dysgammaglobulinemia (D004406) 11
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Endotoxin Hyporesponsiveness (C566417)
..Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..Fanconi like syndrome (C536855)
..FICOLIN 3 DEFICIENCY (OMIM:613860)
..Griscelli syndrome type 2 (C537302)
..Hepatic venoocclusive disease with immunodeficiency (C537257)
..HIV Infections (D015658) 12
..Hypoglobulinemia and Absent B Cells (C565765)
..Immune Deficiency Disease (C565469)
..Immune Deficiency, Familial Variable (C564136)
..IMMUNODEFICIENCY 11 (OMIM:615206)
..IMMUNODEFICIENCY 12 (OMIM:615468)
..IMMUNODEFICIENCY 14 (OMIM:615513)
..IMMUNODEFICIENCY 15B (OMIM:615592)
..IMMUNODEFICIENCY 16 (OMIM:615593)
..IMMUNODEFICIENCY 17 (OMIM:615607)
..IMMUNODEFICIENCY 18 (OMIM:615615)
..IMMUNODEFICIENCY 19 (OMIM:615617)
..IMMUNODEFICIENCY 20 (OMIM:615707)
..IMMUNODEFICIENCY 21 (OMIM:614172)
..IMMUNODEFICIENCY 22 (OMIM:615758)
..IMMUNODEFICIENCY 23 (OMIM:615816)
..IMMUNODEFICIENCY 24 (OMIM:615897)
..IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..IMMUNODEFICIENCY 27B (OMIM:615978)
..IMMUNODEFICIENCY 28 (OMIM:614889)
..IMMUNODEFICIENCY 29 (OMIM:614890)
..IMMUNODEFICIENCY 30 (OMIM:614891)
..IMMUNODEFICIENCY 31A (OMIM:614892)
..IMMUNODEFICIENCY 31B (OMIM:613796)
..IMMUNODEFICIENCY 31C (OMIM:614162)
..IMMUNODEFICIENCY 32A (OMIM:614893)
..IMMUNODEFICIENCY 32B (OMIM:226990)
..IMMUNODEFICIENCY 36 (OMIM:616005)
..IMMUNODEFICIENCY 37 (OMIM:616098)
..IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..IMMUNODEFICIENCY 39 (OMIM:616345)
..IMMUNODEFICIENCY 40 (OMIM:616433)
..IMMUNODEFICIENCY 42 (OMIM:616622)
..IMMUNODEFICIENCY 44 (OMIM:616636)
..IMMUNODEFICIENCY 45 (OMIM:616669)
..IMMUNODEFICIENCY 46 (OMIM:616740)
..IMMUNODEFICIENCY 47 (OMIM:300972)
..IMMUNODEFICIENCY 48 (OMIM:269840)
..IMMUNODEFICIENCY 49 (OMIM:617237)
..IMMUNODEFICIENCY 50 (OMIM:300988)
..IMMUNODEFICIENCY 51 (OMIM:613953)
..IMMUNODEFICIENCY 54 (OMIM:609981)
..IMMUNODEFICIENCY 56 (OMIM:615207)
..IMMUNODEFICIENCY 8 (OMIM:615401)
..Immunodeficiency due to Defect in CD3-Epsilon (C566082)
..Immunodeficiency due to Defect in CD3-Gamma (C566083)
..Immunodeficiency due to Defect in CD3-Zeta (C565712)
..Immunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..Immunodeficiency syndrome, variable (C537362) 1
..Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..Immunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..Inosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..Interleukin 2 Receptor, Alpha, Deficiency of (C565232)
..Invasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..Invasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..IRAK4 Deficiency (C564352)
..Kappa-Chain Deficiency (C564131)
..Kotzot-Richter syndrome (C537025)
..Leukocyte-Adhesion Deficiency Syndrome (D018370) 2
..Lichtenstein syndrome (C535894)
..LIG4 Syndrome (C564694)
..LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..Lymphoblastic Transformation, Intrinsic Defect in (C565431)
..Lymphoid System Deterioration, Progressive (C565430)
..Lymphokine Deficiency (C565428)
..Lymphopenia (D008231) 5
..Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..MASP2 Deficiency (C565360)
..MYD88 Deficiency (C567379)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Natural Killer Cell Deficiency, Familial Isolated (C566492)
..NEMO mutation with immunodeficiency (C538399)
..Neutrophil Immunodeficiency Syndrome (C564275)
..Phagocyte Bactericidal Dysfunction (D010585) 14
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Riddle Syndrome (C567453)
..Roifman syndrome (C535866)
..Roifman-Chitayat Syndrome (C567641)
..Schimke immunoosseous dysplasia (C536629)
..Severe Combined Immunodeficiency (D016511) 22 C:1
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..Splenic Hypoplasia (C563028)
..T cell immunodeficiency primary (C536780)
..T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..T-Cell OKT4 Deficiency (C566080)
..T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..Thymic aplasia (C536288)
..Tuftsin Deficiency (C562872)
..WHIM syndrome (C536697)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6278

Name:

IMMUNODEFICIENCY 42

Definition:

Alternative IDs:

ParentIDs:

MESH:D007153

TreeNumbers:

C20.673/616622

Synonyms:

IMD42

Slim Mappings:

Immune system disease

Reference:

MedGen: 616622
MeSH: 616622
OMIM: 616622;
MSeqDR :
Genes: BCS1L; COX10; COX15; FOXRED1; NDUFA10; NDUFA12; NDUFA2; NDUFA9; NDUFAF2; NDUFAF6; NDUFS3; NDUFS4; NDUFS7; NDUFS8; SDHA; SURF1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000778	Hypoplasia of the thymus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_005060.4(RORC):c.1545G>T (p.Gly515=)	6097	RORC	Uncertain significance	-1	RCV000800954;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151779960	151779960	1:g.151779960C>A	-
NM_005060.4(RORC):c.1456T>A (p.Phe486Ile)	6097	RORC	Uncertain significance	-1	RCV000793258;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151780049	151780049	1:g.151780049A>T	-
NM_005060.4(RORC):c.1328A>C (p.Gln443Pro)	6097	RORC	Uncertain significance	-1	RCV000821977;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151783868	151783868	1:g.151783868T>G	-
NM_005060.4(RORC):c.1321C>T (p.Gln441Ter)	6097	RORC	Pathogenic	rs863225092	RCV000201397;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151783875	151783875	1:g.151783875G>A	OMIM Allelic Variant:602943.0003	C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1285C>T (p.His429Tyr)	6097	RORC	Uncertain significance	-1	RCV000812904;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151785423	151785423	1:g.151785423G>A	-
NM_005060.4(RORC):c.1284C>A (p.Ala428=)	6097	RORC	Uncertain significance	-1	RCV000808617;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151785424	151785424	1:g.151785424G>T	-
NM_005060.4(RORC):c.1247A>G (p.Glu416Gly)	6097	RORC	Uncertain significance	rs200523716	RCV000652789;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151785461	151785461	1:g.151785461T>C	-	C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.1099C>G (p.Arg367Gly)	6097	RORC	Uncertain significance	-1	RCV000803819;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151785790	151785790	1:g.151785790G>C	-
NM_005060.4(RORC):c.985C>T (p.Gln329Ter)	6097	RORC	Pathogenic	rs863225091	RCV000201359;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151786045	151786045	1:g.151786045G>A	OMIM Allelic Variant:602943.0002	C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.754G>A (p.Gly252Ser)	6097	RORC	Uncertain significance	-1	RCV000819503;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151787446	151787446	1:g.151787446C>T	-
NM_005060.4(RORC):c.694C>T (p.Arg232Cys)	6097	RORC	Uncertain significance	-1	RCV000795736;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151787506	151787506	1:g.151787506G>A	-
NM_005060.4(RORC):c.598T>C (p.Cys200Arg)	6097	RORC	Uncertain significance	-1	RCV000794337;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151787602	151787602	1:g.151787602A>G	-
NM_005060.4(RORC):c.595T>C (p.Ser199Pro)	6097	RORC	Uncertain significance	rs1161656885	RCV000652788;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151787605	151787605	1:g.151787605A>G	-	C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.560C>G (p.Ser187Cys)	6097	RORC	Uncertain significance	-1	RCV000797903;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151787640	151787640	1:g.151787640G>C	-
NM_005060.4(RORC):c.253C>T (p.His85Tyr)	6097	RORC	Uncertain significance	rs142141845	RCV000707497;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151789185	151789185	1:g.151789185G>A	-	C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.245G>A (p.Arg82Gln)	6097	RORC	Uncertain significance	-1	RCV000792128;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151789193	151789193	1:g.151789193C>T	-
NM_005060.4(RORC):c.177G>C (p.Gln59His)	6097	RORC	Uncertain significance	-1	RCV000819406;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151789261	151789261	1:g.151789261C>G	-
NM_005060.4(RORC):c.113C>T (p.Ser38Leu)	6097	RORC	Pathogenic	rs774357869	RCV000201419;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151789714	151789714	1:g.151789714G>A	OMIM Allelic Variant:602943.0001,UniProtKB (protein):P51449#VAR_073725	C4225266 616622 Immunodeficiency 42;
NM_005060.4(RORC):c.20G>A (p.Arg7Lys)	6097	RORC	Uncertain significance	-1	RCV000803780;	N	MedGen:C4225266,OMIM:616622, Orphanet:ORPHA477857	1	151804221	151804221	1:g.151804221C>T	-

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