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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 49 (OMIM:617237)
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:

6284

Name:

IMMUNODEFICIENCY 49

Definition:

Alternative IDs:

ParentIDs:

MESH:D007153

TreeNumbers:

C20.673/617237

Synonyms:

IMD49 |SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES |SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, S

Slim Mappings:

Immune system disease

Reference:

MedGen: 617237
MeSH: 617237
OMIM: 617237;
MSeqDR :
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0001344	Absent speech
4	HP:0001290	Generalized hypotonia
5	HP:0001263	Global developmental delay NAMDC: Mental retardation
6	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
7	HP:0001007	Hirsutism
8	HP:0000316	Hypertelorism
9	HP:0011123	Inflammatory abnormality of the skin
10	HP:0001249	Intellectual disability
11	HP:0000347	Micrognathia
12	HP:0000695	Natal tooth
13	HP:0004415	Pulmonary artery stenosis
14	HP:0001250	Seizures NAMDC: Seizures
15	HP:0004430	Severe combined immunodeficiency
16	HP:0012745	Short palpebral fissure
17	HP:0002510	Spastic tetraplegia
18	HP:0001537	Umbilical hernia
19	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)	64919	BCL11B	Pathogenic	2139753037	RCV001717980\|RCV002246460;	N	MONDO:MONDO:0060763,MedGen:C4748152,OMIM:618092\|MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99640711	99640712	99640711	-
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)	64919	BCL11B	Pathogenic/Likely pathogenic	888230251	RCV000678214\|RCV000995706\|RCV001089771\|RCV001533094;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237\|MONDO:MONDO:0060763,MedGen:C4748152,OMIM:618092\|MedGen:CN517202\|	14	99640752	99640752	14:g.99640752G>C	OMIM:606558.0002	C4310656 617237 Immunodeficiency 49;
NM_138576.4(BCL11B):c.1887_1893del (p.Gly630fs)	64919	BCL11B	Pathogenic	2139755925	RCV001682638\|RCV003314011;	N	MedGen:C3661900\|MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99641280	99641286	99641279	-
NM_138576.4(BCL11B):c.1521C>T (p.Gly507=)	64919	BCL11B	Benign/Likely benign	745896590	RCV002213061\|RCV003224611;	N	MedGen:C3661900\|MONDO:MONDO:0060763,MedGen:C4748152,OMIM:618092; MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99641652	99641652	99641652	-
NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)	64919	BCL11B	Pathogenic	750610248	RCV000241534\|RCV000412543;	N	Human Phenotype Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C2711630, Orphanet:101972\|MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99641850	99641850	NC_000014.8:g.99641850A>C	ClinGen:CA10586691,OMIM:606558.0001	C0494261 Combined immunodeficiency;
NM_138576.4(BCL11B):c.1003A>G (p.Met335Val)	64919	BCL11B	Uncertain significance	1886500576	RCV001330354;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99642170	99642170	99642170	-
NM_138576.4(BCL11B):c.992G>T (p.Ser331Ile)	64919	BCL11B	Uncertain significance	-1	RCV003224727;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237; MONDO:MONDO:0060763,MedGen:C4748152,OMIM:618092	14	99642181	99642181		-
NM_138576.4(BCL11B):c.908C>A (p.Pro303Gln)	64919	BCL11B	Uncertain significance	752385859	RCV001809278;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99642265	99642265	99642265	-
NM_138576.4(BCL11B):c.906C>A (p.His302Gln)	64919	BCL11B	Uncertain significance	1886508540	RCV001335400;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99642267	99642267	99642267	-
NM_138576.4(BCL11B):c.740G>A (p.Arg247His)	64919	BCL11B	Uncertain significance	748264333	RCV002210934\|RCV003093837;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237\|MedGen:C3661900	14	99642433	99642433	99642433	-
NM_138576.4(BCL11B):c.307C>A (p.Arg103Ser)	64919	BCL11B	Uncertain significance	-1	RCV003448818;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99723928	99723928		-
NM_138576.4(BCL11B):c.296C>T (p.Pro99Leu)	64919	BCL11B	Uncertain significance	1889207328	RCV001330355;	N	MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237	14	99723939	99723939	99723939	-

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