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 46 (OMIM:616740)
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:

6281

Name:

IMMUNODEFICIENCY 46

Definition:

Alternative IDs:

ParentIDs:

MESH:D007153

TreeNumbers:

C20.673/616740

Synonyms:

IMD46

Slim Mappings:

Immune system disease

Reference:

MedGen: 616740
MeSH: 616740
OMIM: 616740;
MSeqDR :
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001903	Anemia	HP:0040284
3	HP:0002028	Chronic diarrhea	HP:0040284
4	HP:0009098	Chronic oral candidiasis	HP:0040284
5	HP:0000509	Conjunctivitis	HP:0040284
6	HP:0004313	Decreased antibody level in blood
7	HP:0001508	Failure to thrive	HP:0040284
8	HP:0004854	Intermittent thrombocytopenia	HP:0040284
9	HP:0001287	Meningitis	HP:0040284
10	HP:0001875	Neutropenia
11	HP:0005425	Recurrent sinopulmonary infections	HP:0040284
12	HP:0100806	Sepsis	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met)	7037	TFRC	Uncertain significance	202242239	RCV001333105\|RCV001865776;	N	MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN517202	3	195778910	195778910	195778910	-
NM_001128148.3(TFRC):c.1678-3C>T	7037	TFRC	Uncertain significance	769019945	RCV001329056\|RCV001871798;	N	MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN517202	3	195782175	195782175	195782175	-
NM_001128148.3(TFRC):c.1678-4G>A	7037	TFRC	Benign	419068	RCV003394176\|RCV001838716\|RCV001635567;	N	MedGen:CN169374\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:C3661900	3	195782176	195782176	195782176	-
NM_001128148.3(TFRC):c.1678-5T>C	7037	TFRC	Benign	366268	RCV001616631\|RCV001838707\|RCV003394168;	N	MedGen:C3661900\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN169374	3	195782177	195782177	195782177	-
NM_001128148.3(TFRC):c.1678-12G>A	7037	TFRC	Benign	419059	RCV001515752\|RCV001838663\|RCV003394093;	N	MedGen:C3661900\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN169374	3	195782184	195782184	195782184	-
NM_001128148.3(TFRC):c.1468+39A>G	7037	TFRC	Benign	2239641	RCV001838778\|RCV003394205\|RCV001681818;	N	MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN169374\|MedGen:C3661900	3	195789414	195789414	195789414	-
NM_001128148.3(TFRC):c.1468+25G>T	7037	TFRC	Benign	507131	RCV001638720\|RCV003399437\|RCV001838718;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113	3	195789428	195789428	195789428	-
NM_001128148.3(TFRC):c.1404+17C>A	7037	TFRC	Benign	2239640	RCV001518312\|RCV001838672\|RCV003394100;	N	MedGen:C3661900\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN169374	3	195789708	195789708	195789708	-
NM_001128148.3(TFRC):c.1198+1G>T	7037	TFRC	Pathogenic	1341988492	RCV000714864;	N	MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113	3	195792313	195792313	NC_000003.11:g.195792313C>A	-
NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg)	7037	TFRC	Uncertain significance	1717655314	RCV001329055;	N	MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113	3	195792331	195792331	195792331	-
NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser)	7037	TFRC	Uncertain significance	539830157	RCV001336554\|RCV001871891;	N	MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:C3661900	3	195792376	195792376	195792376	-
NM_001128148.3(TFRC):c.687+9A>G	7037	TFRC	Benign	480760	RCV001511479\|RCV001838659\|RCV003399271;	N	MedGen:C3661900\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN169374	3	195798258	195798258	195798258	-
NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro)	7037	TFRC	Uncertain significance	775554571	RCV001329057\|RCV002546299;	N	MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN517202	3	195798994	195798994	195798994	-
NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser)	7037	TFRC	Benign	3817672	RCV001511480\|RCV001838660\|RCV003394087;	N	MedGen:C3661900\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113\|MedGen:CN169374	3	195800811	195800811	195800811	-
NM_001128148.3(TFRC):c.310A>G (p.Thr104Ala)	7037	TFRC	Conflicting interpretations of pathogenicity	201408488	RCV002112257\|RCV002102645;	N	MedGen:C3661900\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113	3	195800925	195800925	195800925	-
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)	7037	TFRC	Conflicting interpretations of pathogenicity	863225436	RCV000202386\|RCV000203305;	N	Human Phenotype Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630, Orphanet:101972\|MONDO:MONDO:0014760,MedGen:C5568133,OMIM:616740, Orphanet:476113	3	195802210	195802210	3:g.195802210A>G	ClinGen:CA279895,UniProtKB:P02786#VAR_076365,OMIM:190010.0001	C0494261 Combined immunodeficiency;

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