MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Immunologic Deficiency Syndromes (D007153)
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IMMUNODEFICIENCY 49 (OMIM:617237)

       Child Nodes:



 Sister Nodes: 
..expandActivated PI3K-delta Syndrome (C585640)
..expandAgammaglobulinemia (D000361) Child19
..expandAntibody Deficiency due to Defect in CD19 (C566275)
..expandAtaxia Telangiectasia (D001260) Child6
..expandAUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED (OMIM:614878)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandC1q DEFICIENCY (OMIM:613652)
..expandC9 Deficiency (C565165)
..expandC9 Deficiency with Dermatomyositis (C565166)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandCd4+ Lymphocyte Deficiency (C566079)
..expandCD8 Deficiency, Familial (C563824)
..expandCombined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..expandCombined Inflammatory and Immunologic Defect (C565684)
..expandCommon Variable Immunodeficiency (D017074)
..expandCOMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..expandComplement Component 3 Deficiency, Autosomal Recessive (C565169)
..expandComplement Component 4, Partial Deficiency Of (C565168)
..expandComplement Component 4a Deficiency (C565167)
..expandCOMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
..expandComplement component 5 deficiency (C537005)
..expandComplement Component 6 Deficiency (C567307)
..expandComplement Component 7 Deficiency (C566443)
..expandCOMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..expandComplement Component C1s Deficiency (C565170)
..expandCOMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
..expandComplement Factor D Deficiency (C565027)
..expandDavenport Donlan syndrome (C535988)
..expandDeltaretrovirus Infections (D006800) Child4
..expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..expandDysgammaglobulinemia (D004406) Child11
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEndotoxin Hyporesponsiveness (C566417)
..expandEnteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..expandERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
..expandFACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..expandFanconi like syndrome (C536855)
..expandFICOLIN 3 DEFICIENCY (OMIM:613860)
..expandGriscelli syndrome type 2 (C537302)
..expandHepatic venoocclusive disease with immunodeficiency (C537257)
..expandHIV Infections (D015658) Child12
..expandHypoglobulinemia and Absent B Cells (C565765)
..expandImmune Deficiency Disease (C565469)
..expandImmune Deficiency, Familial Variable (C564136)
..expandIMMUNODEFICIENCY 11 (OMIM:615206)
..expandIMMUNODEFICIENCY 12 (OMIM:615468)
..expandIMMUNODEFICIENCY 14 (OMIM:615513)
..expandIMMUNODEFICIENCY 15B (OMIM:615592)
..expandIMMUNODEFICIENCY 16 (OMIM:615593)
..expandIMMUNODEFICIENCY 17 (OMIM:615607)
..expandIMMUNODEFICIENCY 18 (OMIM:615615)
..expandIMMUNODEFICIENCY 19 (OMIM:615617)
..expandIMMUNODEFICIENCY 20 (OMIM:615707)
..expandIMMUNODEFICIENCY 21 (OMIM:614172)
..expandIMMUNODEFICIENCY 22 (OMIM:615758)
..expandIMMUNODEFICIENCY 23 (OMIM:615816)
..expandIMMUNODEFICIENCY 24 (OMIM:615897)
..expandIMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
..expandIMMUNODEFICIENCY 27B (OMIM:615978)
..expandIMMUNODEFICIENCY 28 (OMIM:614889)
..expandIMMUNODEFICIENCY 29 (OMIM:614890)
..expandIMMUNODEFICIENCY 30 (OMIM:614891)
..expandIMMUNODEFICIENCY 31A (OMIM:614892)
..expandIMMUNODEFICIENCY 31B (OMIM:613796)
..expandIMMUNODEFICIENCY 31C (OMIM:614162)
..expandIMMUNODEFICIENCY 32A (OMIM:614893)
..expandIMMUNODEFICIENCY 32B (OMIM:226990)
..expandIMMUNODEFICIENCY 36 (OMIM:616005)
..expandIMMUNODEFICIENCY 37 (OMIM:616098)
..expandIMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
..expandIMMUNODEFICIENCY 39 (OMIM:616345)
..expandIMMUNODEFICIENCY 40 (OMIM:616433)
..expandIMMUNODEFICIENCY 42 (OMIM:616622)
..expandIMMUNODEFICIENCY 44 (OMIM:616636)
..expandIMMUNODEFICIENCY 45 (OMIM:616669)
..expandIMMUNODEFICIENCY 46 (OMIM:616740)
..expandIMMUNODEFICIENCY 47 (OMIM:300972)
..expandIMMUNODEFICIENCY 48 (OMIM:269840)
..expandIMMUNODEFICIENCY 49 (OMIM:617237)
..expandIMMUNODEFICIENCY 50 (OMIM:300988)
..expandIMMUNODEFICIENCY 51 (OMIM:613953)
..expandIMMUNODEFICIENCY 54 (OMIM:609981)
..expandIMMUNODEFICIENCY 56 (OMIM:615207)
..expandIMMUNODEFICIENCY 8 (OMIM:615401)
..expandImmunodeficiency due to Defect in CD3-Epsilon (C566082)
..expandImmunodeficiency due to Defect in CD3-Gamma (C566083)
..expandImmunodeficiency due to Defect in CD3-Zeta (C565712)
..expandImmunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..expandImmunodeficiency syndrome, variable (C537362) Child1
..expandImmunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..expandImmunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..expandImmunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..expandImmunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..expandImmunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..expandImmunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..expandIMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY (OMIM:614102)
..expandInosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..expandInterleukin 2 Receptor, Alpha, Deficiency of (C565232)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..expandInvasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..expandIRAK4 Deficiency (C564352)
..expandKappa-Chain Deficiency (C564131)
..expandKotzot-Richter syndrome (C537025)
..expandLeukocyte-Adhesion Deficiency Syndrome (D018370) Child2
..expandLichtenstein syndrome (C535894)
..expandLIG4 Syndrome (C564694)
..expandLUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..expandLymphoblastic Transformation, Intrinsic Defect in (C565431)
..expandLymphoid System Deterioration, Progressive (C565430)
..expandLymphokine Deficiency (C565428)
..expandLymphopenia (D008231) Child5
..expandLymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..expandMASP2 Deficiency (C565360)
..expandMYD88 Deficiency (C567379)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandNatural Killer Cell Deficiency, Familial Isolated (C566492)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNeutrophil Immunodeficiency Syndrome (C564275)
..expandPhagocyte Bactericidal Dysfunction (D010585) Child14
..expandProperdin Deficiency, Type II (C564075)
..expandProperdin Deficiency, Type III (C564076)
..expandRiddle Syndrome (C567453)
..expandRoifman syndrome (C535866)
..expandRoifman-Chitayat Syndrome (C567641)
..expandSchimke immunoosseous dysplasia (C536629)
..expandSevere Combined Immunodeficiency (D016511) Child22  LSDB C:1
..expandSevere Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..expandSplenic Hypoplasia (C563028)
..expandT cell immunodeficiency primary (C536780)
..expandT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..expandT-Cell OKT4 Deficiency (C566080)
..expandT-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
..expandThumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..expandThymic aplasia (C536288)
..expandTuftsin Deficiency (C562872)
..expandWHIM 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 LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003577Congenital onset
3 HP:0001344Absent speech
4 HP:0001290Generalized hypotonia
5 HP:0001263Global developmental delay
NAMDC:  Mental retardation
6 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
7 HP:0001007Hirsutism
8 HP:0000316Hypertelorism
9 HP:0011123Inflammatory abnormality of the skin
10 HP:0001249Intellectual disability
11 HP:0000347Micrognathia
12 HP:0000695Natal tooth
13 HP:0004415Pulmonary artery stenosis
14 HP:0001250Seizures
NAMDC:  Seizures
15 HP:0004430Severe combined immunodeficiency
16 HP:0012745Short palpebral fissure
17 HP:0002510Spastic tetraplegia
18 HP:0001537Umbilical hernia
19 HP:0002645Wormian bones
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)64919BCL11BPathogenic/Likely pathogenicrs888230251RCV000678214|RCV000995706|RCV001089771; NMONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237|MONDO:MONDO:0060763,MedGen:C4748152,OMIM:618092|MedGen:CN517202149964075299640752GC14:g.99640752G>COMIM:606558.0002C4310656 617237 Immunodeficiency 49;
NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)64919BCL11BPathogenicrs750610248RCV000241534|RCV000412543; NHuman Phenotype Ontology:HP:0005387,MONDO:MONDO:0015131,MedGen:C0494261|MONDO:MONDO:0014981,MedGen:C4310656,OMIM:617237149964185099641850AC14:g.99641850A>CClinGen:CA10586691,OMIM:606558.0001
MSeqDR Portal