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 ..Complement Component 6 Deficiency (C567307)
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:

2818

Name:

Complement Component 6 Deficiency

Definition:

Alternative IDs:

OMIM:612446

ParentIDs:

MESH:D007153

TreeNumbers:

C20.673/C567307

Synonyms:

C6D |C6 Deficiency |C6 DEFICIENCY COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL, INCLUDED |C6 DEFICIENCY, SUBTOTAL, INCLUDED

Slim Mappings:

Immune system disease

Reference:

MedGen: C567307
MeSH: C567307
OMIM: 612446;
MSeqDR :
Genes: FGFR2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004431	Complement deficiency
3	HP:0005381	Recurrent meningococcal disease

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000065.5(C6):c.2406_2407del (p.Val802_Phe803insTer)	729	C6	Pathogenic/Likely pathogenic	749432203	RCV001780701\|RCV001868853;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MedGen:C3661900	5	41149559	41149560	41149558	-
NM_000065.5(C6):c.2381+2T>C	729	C6	Conflicting interpretations of pathogenicity	76202909	RCV000422743\|RCV002244875\|RCV002221153\|RCV002268046\|RCV003409589;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MedGen:C2676233\|MedGen:CN169374\|	5	41150035	41150035	5:g.41150035A>G	ClinGen:CA3252142,OMIM:217050.0002	CN517202 not provided;
NM_000065.5(C6):c.2335_2336del (p.Gln779fs)	729	C6	Pathogenic/Likely pathogenic	771792933	RCV001866756\|RCV002503383;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41150082	41150083	41150081	-
NM_000065.5(C6):c.2101C>T (p.Arg701Trp)	729	C6	Uncertain significance	199930769	RCV001897403\|RCV003447606;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41155074	41155074	41155074	-
NM_000065.5(C6):c.2101C>A (p.Arg701=)	729	C6	Likely pathogenic	-1	RCV003315100;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41155074	41155074		-
NM_000065.5(C6):c.2087A>G (p.Asp696Gly)	729	C6	Benign/Likely benign	41271067	RCV000949912\|RCV002502918;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41155088	41155088	5:g.41155088T>C	-
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)	729	C6	Pathogenic/Likely pathogenic	867425110	RCV000985147\|RCV001585894;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MedGen:CN517202	5	41155126	41155126	5:g.41155126G>C	-
NM_000065.5(C6):c.1999G>C (p.Asp667His)	729	C6	Uncertain significance	184169749	RCV000998377\|RCV002549088\|RCV002505522;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41155176	41155176	5:g.41155176C>G	-
NM_000065.5(C6):c.1881C>T (p.Asp627=)	729	C6	Benign	6866352	RCV001522171\|RCV001529901\|RCV002476829;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41158863	41158863	41158863	-
NM_000065.5(C6):c.1879del (p.Asp627fs)	729	C6	Pathogenic	61469168	RCV000767913\|RCV000991161\|RCV001385988\|RCV003403415;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MONDO:MONDO:0015700,MedGen:C0398765, Orphanet:169150\|MedGen:C3661900\|	5	41158865	41158865	NC_000005.9:g.41158865del	ClinGen:CA3252287,OMIM:217050.0005	CN924921 Immunodeficiency due to a late component of complement deficiency;
NM_000065.5(C6):c.1786C>T (p.Arg596Ter)	729	C6	Pathogenic/Likely pathogenic	142881576	RCV000190569\|RCV001852530;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MedGen:C3661900	5	41159254	41159254	NC_000005.9:g.41159254G>A	ClinGen:CA204546	C2676232 612446 Complement component 6 deficiency;
NM_000065.5(C6):c.1695C>T (p.Asp565=)	729	C6	Benign/Likely benign	79523005	RCV001516316\|RCV002506615;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41159345	41159345	41159345	-
NM_000065.5(C6):c.1628_1629dup (p.Gln544fs)	729	C6	Likely pathogenic	-1	RCV003455843;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41160298	41160299		-
NM_000065.5(C6):c.1219C>T (p.Arg407Cys)	729	C6	Uncertain significance	147449601	RCV001877662\|RCV002478201;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41172399	41172399	41172399	-
NM_000065.5(C6):c.1205T>C (p.Ile402Thr)	729	C6	Uncertain significance	139261476	RCV001810619\|RCV002480933;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41172413	41172413	41172413	-
NM_000065.5(C6):c.1189A>G (p.Lys397Glu)	729	C6	Benign/Likely benign	6896011	RCV000910636\|RCV002502733;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41172429	41172429	5:g.41172429T>C	-
NM_000065.5(C6):c.1138del (p.Gln380fs)	729	C6	Pathogenic/Likely pathogenic	375762365	RCV001386841\|RCV002246285;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41176607	41176607	41176606	OMIM:217050.0004
NM_000065.5(C6):c.933T>C (p.Ser311=)	729	C6	Benign/Likely benign	75043846	RCV001516317\|RCV002488329;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41176812	41176812	41176812	-
NM_000065.5(C6):c.928-1G>C	729	C6	Likely pathogenic	1432520854	RCV002208783;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41176818	41176818	41176818	-
NM_000065.5(C6):c.828del (p.Ser277fs)	729	C6	Pathogenic	372345940	RCV000012898\|RCV002512997;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MedGen:C3661900	5	41181560	41181560	41181559	OMIM:217050.0003
NM_000065.5(C6):c.821del (p.Gln274fs)	729	C6	Pathogenic/Likely pathogenic	557023458	RCV001949613\|RCV002251599;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41181567	41181567	41181566	OMIM:217050.0007
NM_000065.5(C6):c.542C>T (p.Thr181Ile)	729	C6	Benign/Likely benign	114609505	RCV000425292\|RCV002502464;	N	MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41195939	41195939	5:g.41195939G>A	ClinGen:CA3252753	CN517202 not provided;
NM_000065.5(C6):c.237del (p.Ile80fs)	729	C6	Pathogenic	398122811	RCV000022813;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41201723	41201723	5:g.41201723_41201723del	ClinGen:CA128771,OMIM:217050.0006	C2676232 612446 Complement component 6 deficiency;
NM_000065.5(C6):c.143G>A (p.Arg48Lys)	729	C6	Uncertain significance	145422926	RCV001291642\|RCV001859232;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MedGen:CN517202	5	41203190	41203190	41203190	-
NM_000065.5(C6):c.107C>A (p.Ser36Ter)	729	C6	Pathogenic	1329836511	RCV001334187;	N	MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446	5	41203226	41203226	41203226	-
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)	732	C8B	Pathogenic	41286844	RCV000018566\|RCV000578926\|RCV000844619\|RCV003398541;	N	MONDO:MONDO:0013421,MedGen:C3151080,OMIM:613789\|MedGen:C3661900\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|	1	57406638	57406638	NC_000001.10:g.57406638G>A	ClinGen:CA210849,OMIM:120960.0001	C3151080 613789 Complement component 8 deficiency type 2;
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)	732	C8B	Pathogenic/Likely pathogenic	146187042	RCV000029239\|RCV000844620\|RCV001852581\|RCV003421934;	N	MONDO:MONDO:0013421,MedGen:C3151080,OMIM:613789\|MONDO:MONDO:0012908,MedGen:C2676232,OMIM:612446\|MedGen:C3661900\|	1	57422562	57422562	NC_000001.10:g.57422562G>A	ClinGen:CA210869,OMIM:120960.0004	C3151080 613789 Complement component 8 deficiency type 2;

MSeqDR Portal

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