MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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 45 (OMIM:616669)
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:

6280

Name:

IMMUNODEFICIENCY 45

Definition:

Alternative IDs:

ParentIDs:

MESH:D007153

TreeNumbers:

C20.673/616669

Synonyms:

IMD45

Slim Mappings:

Immune system disease

Reference:

MedGen: 616669
MeSH: 616669
OMIM: 616669;
MSeqDR :
Genes:

Phenotypes

HP:0000007

Autosomal recessive inheritance

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser)	3455	IFNAR2	Benign	2229207	RCV000007711\|RCV001523493\|RCV001701719\|RCV002326668;	N	MONDO:MONDO:0012488,MedGen:C1864880,OMIM:610424\|MedGen:C3661900\|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669\|	21	34614250	34614250	21:g.34614250T>C	ClinGen:CA118670,UniProtKB:P48551#VAR_020521,OMIM:602376.0001	C1864880 610424 Hepatitis b virus, susceptibility to;
NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val)	3455	IFNAR2	Benign	1051393	RCV001523494\|RCV002329653\|RCV001702610;	N	MedGen:C3661900\|\|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669	21	34614255	34614255	34614255	-
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)	3455	IFNAR2	Uncertain significance	1987287426	RCV001813168\|RCV002284216;	N	MedGen:C3661900\|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669	21	34617315	34617315	34617315	OMIM:602376.0005
NM_000874.5(IFNAR2):c.236del (p.Asp78_Leu79insTer)	3455	IFNAR2	Pathogenic	1310889473	RCV001283731\|RCV001780205\|RCV001879919;	N	MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166\|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669\|MedGen:CN517202	21	34619035	34619035	34619034	OMIM:602376.0003
NM_001289125.3(IFNAR2):c.311del (p.Glu104fs)	3455	IFNAR2	Pathogenic	775739391	RCV000202387;	N	MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669	21	34619112	34619112	21:g.34619112_34619112del	ClinGen:CA210647,OMIM:602376.0002	C4225252 616669 Immunodeficiency 45;
NM_001289125.3(IFNAR2):c.505G>A (p.Val169Ile)	3455	IFNAR2	Conflicting interpretations of pathogenicity	140533677	RCV002201918\|RCV002213575;	N	MONDO:MONDO:0012488,MedGen:C1864880,OMIM:610424; MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669\|MedGen:C3661900	21	34621124	34621124	34621124	-
NM_000874.5(IFNAR2):c.555_559del (p.Ile185fs)	3455	IFNAR2	Pathogenic	1312285586	RCV001283730\|RCV001780204\|RCV001879882;	N	MONDO:MONDO:0014715,MedGen:C4225260,OMIM:616636, Orphanet:431166\|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669\|MedGen:CN517202	21	34624981	34624985	34624980	OMIM:602376.0004
NM_001289125.3(IFNAR2):c.840+1G>T	3455	IFNAR2	Uncertain significance	746775306	RCV001984861\|RCV002243487;	N	MedGen:C3661900\|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669	21	34633033	34633033	34633033	-
NM_001289125.3(IFNAR2):c.841-102G>A	3455	IFNAR2	Uncertain significance	777044815	RCV001330854;	N	MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669	21	34634996	34634996	34634996	-
NM_001289125.3(IFNAR2):c.841-4del	3455	IFNAR2	Benign	34865572	RCV001702323;	N	MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669	21	34635080	34635080	34635079	-
NM_001289125.3(IFNAR2):c.1067A>G (p.Glu356Gly)	3455	IFNAR2	Uncertain significance	746319376	RCV001300695\|RCV002275341;	N	MedGen:CN517202\|MONDO:MONDO:0014727,MedGen:C4225252,OMIM:616669	21	34635324	34635324	34635324	-

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