MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 50 (OMIM:300988)
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:

6285

Name:

IMMUNODEFICIENCY 50

Definition:

Alternative IDs:

ParentIDs:

MESH:D007153

TreeNumbers:

C20.673/300988

Synonyms:

IMD50 |IMMUNODEFICIENCY 50, X-LINKED RECESSIVE

Slim Mappings:

Immune system disease

Reference:

MedGen: 300988
MeSH: 300988
OMIM: 300988;
MSeqDR :
Genes: LRPPRC;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0004313	Decreased antibody level in blood
3	HP:0000964	Eczema
4	HP:0001888	Lymphopenia
5	HP:0002205	Recurrent respiratory infections
6	HP:0000010	Recurrent urinary tract infections

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002444.3(MSN):c.511C>T (p.Arg171Trp)	4478	MSN	Pathogenic	1057519074	RCV000412603\|RCV001092797;	N	MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988, Orphanet:504530\|MedGen:C3661900	X	64951012	64951012	X:g.64951012C>T	ClinGen:CA16042218,OMIM:309845.0001	C4310812 300988 Immunodeficiency 50;
NM_002444.3(MSN):c.817C>T (p.Arg273Trp)	4478	MSN	Uncertain significance	1441590143	RCV001262725;	N	MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988, Orphanet:504530	X	64955150	64955150	X:g.64955150C>T	-
NM_002444.3(MSN):c.877C>T (p.Arg293Cys)	4478	MSN	Uncertain significance	-1	RCV003335985;	N	MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988, Orphanet:504530	X	64955210	64955210		-
NM_002444.3(MSN):c.1056del (p.Lys352fs)	4478	MSN	Pathogenic	2147518591	RCV001844378;	N	MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988, Orphanet:504530	X	64956753	64956753	64956752	-
NM_002444.3(MSN):c.1099G>A (p.Glu367Lys)	4478	MSN	Uncertain significance	-1	RCV003132688\|RCV003420569;	N	MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988, Orphanet:504530\|	X	64957048	64957048	NC_000023.10:g.64957048G>A	-
NM_002444.3(MSN):c.1601A>C (p.Asp534Ala)	4478	MSN	Likely pathogenic	1602878106	RCV000990848;	N	MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988, Orphanet:504530	X	64959622	64959622	X:g.64959622A>C	-
NM_002444.3(MSN):c.1657C>T (p.Arg553Ter)	4478	MSN	Pathogenic	1057519075	RCV000412497;	N	MONDO:MONDO:0010514,MedGen:C5568123,OMIM:300988, Orphanet:504530	X	64959678	64959678	NC_000023.10:g.64959678C>T	ClinGen:CA16042219,OMIM:309845.0002	C4310812 300988 Immunodeficiency 50;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen