Phenotypes for disease #05292 (IMD (immunodeficiency (IMD)))

149 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000083720 see paper; ..., failure to thrive, adrenal insufficiency, infancy-inflammatory enterocolitis, 9m-recurrent respiratory tract infections, intermittent mucocutaneous candidiasis, recurrent herpes simplex virus stomatitis, 3x varicella-zoster virus infections, visible thymus, normal immunoglobulin isotypes with poor response to vaccines, persistent CD81 lymphocytopenia (0.01-0.03 total T-cells age-adjusted reference range); older brother died at 16m from suspected viral encephalitis - - Familial, autosomal recessive 33y - - - Johan den Dunnen 00105824
0000104101 immunodeficiency (IMD-47), hepatopathy, cutis laxa, dilatation of sinus aortae, cholestasis, hepatopathy, diaphragmatic hernia, recurrent infections - - Familial, X-linked recessive 01y 00y01m cutis laxa - Jeroen Breckpot 00131880
0000203882 infection with Escherichia coli and Streptococcus pneu-moniae resulting in sepsis, urinary tract infections, pneumonia, infection with CMV and VZV; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel; 9y-died from hematopoietic stem-cell transplantation complications immunodeficiency IMD-10 Familial, autosomal recessive - - - - Johan den Dunnen 00266102
0000203883 infection with EBV, enteroviral encephalitis, prolonged diarrhea; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, nephrotic syndrome; 18m-died from encephalitis immunodeficiency IMD-10 Familial, autosomal recessive - - - - Johan den Dunnen 00266103
0000203884 undocumented sepsis, treatment with IV immune globulin since birth; thrombocytopenia; no lymphoproliferative disorder; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, hypoglycemia; 15m-hematopoietic stem-cell transplantation, currently alive and well with muscular hypotonia immunodeficiency IMD-10 Familial, autosomal recessive - - - - Johan den Dunnen 00266104
0000203885 see paper; … immunodeficiency IMD-10 Familial, autosomal recessive - - - - Johan den Dunnen 00266105
0000203894 see paper; … hereditary spastic paraplegias SPG-76 Familial, autosomal recessive - 29y - - Johan den Dunnen 00266114
0000203895 lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal; keratoconus hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 37y 21y gait difficulty - Johan den Dunnen 00266115
0000203896 lower limb spaticity, upper limb spaticity, gait ataxia, limb ataxia, dysarthria, dysmetria; MRI brain/spinal normal; nerve conduction study normal, sensory evoked potential normal hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 54y 15y gait difficulty - Johan den Dunnen 00266116
0000203897 lower limb spaticity, no upper limb spaticity, gait ataxia, limb ataxia, dysarthria hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 45y 15y - - Johan den Dunnen 00266117
0000203898 see paper; … hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 33y 14y - - Johan den Dunnen 00266118
0000203899 see paper; … hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 16y 1y - - Johan den Dunnen 00266119
0000203928 see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 42y - - - Johan den Dunnen 00266149
0000203929 see paper; …, spastic paraparesis, MRI dorsal spinecord atrophy, MRI brain normal hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 20y-23y - - - Johan den Dunnen 00266150
0000203930 see paper; …, spastic paraparesis, ataxia (mild); MRI brain and cervical spine normal hereditary spastic paraplegias SPG-76 Familial, autosomal recessive 42y - - - Johan den Dunnen 00266151
0000249435 see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency immunodeficiency - Familial, X-linked recessive - - - - Johan den Dunnen 00331242
0000249436 see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency immunodeficiency - Familial, X-linked recessive - - - - Johan den Dunnen 00331243
0000249437 see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency immunodeficiency - Familial, X-linked recessive - - - - Johan den Dunnen 00331244
0000249438 see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency immunodeficiency - Familial, X-linked recessive - - - - Johan den Dunnen 00331245
0000249439 see paper; ..., no ectodermal dysplasia, immune deficiency immunodeficiency - Familial, X-linked recessive - - - - Johan den Dunnen 00331246
0000249440 see paper; ..., hypohidrotic ectodermal dysplasia, immune deficiency immunodeficiency - Familial, X-linked recessive - - - - Johan den Dunnen 00001466
0000306401 see paper; ..., common variable immunodeficiency, glomerulonephritis, coagulopathy, multiple hormone deficiencies, abnormalities neutrophil granules; 21y-died of graft rejection and possible cerebral hemorrhage immunodeficiency IMD73C Familial, autosomal recessive 21y - - - Johan den Dunnen 00414602
0000306402 see paper; ..., 5w-perirectal abscess, failure umbilical stump to involute; 5m-recurrent perirectal abscesses, infected urachal cyst, failure to heal surgical wounds, absence of pus in infected areas immunodeficiency IMD73A Isolated (sporadic) 01y - - - Johan den Dunnen 00414603
0000306403 see paper; ... immunodeficiency IMD73B Isolated (sporadic) - - - - Johan den Dunnen 00414606
0000306404 see paper; ... immunodeficiency IMD73B Isolated (sporadic) - - - - Johan den Dunnen 00414607
0000306405 see paper; ... immunodeficiency IMD73B Isolated (sporadic) - - - - Johan den Dunnen 00414608
0000306406 see paper; ... immunodeficiency IMD73B Isolated (sporadic) - - - - Johan den Dunnen 00414609
0000306407 see paper; ..., recurrent respiratory infections, lung disease, susceptibility to varicella and herpetic infections immunodeficiency IMD73B Unknown 10y - - - Johan den Dunnen 00414610
0000306408 see paper; ... immunodeficiency IMD73B Familial, autosomal dominant - - - - Johan den Dunnen 00414611
0000306409 see paper; ... immunodeficiency IMD73B Unknown - - - - Johan den Dunnen 00414613
0000306410 see paper; ... immunodeficiency IMD73B Familial, autosomal dominant - - - - Johan den Dunnen 00414614
0000310950 Proband and sons presenting with IgG4 related disease - IgG4 RD Familial - - - - Christian Drouet 00419669
0000323088 - immunodeficiency CGD1 Familial, autosomal recessive 71y - - - Johan den Dunnen 00432526
0000323561 antibody deficiency including hyper IgM syndrome primary immunodeficiency disease - Unknown 30y - - - Johan den Dunnen 00433035
0000323562 antibody deficiency including hyper IgM syndrome primary immunodeficiency disease - Familial, X-linked 20y - - - Johan den Dunnen 00433036
0000323563 antibody deficiency including hyper IgM syndrome primary immunodeficiency disease - Familial, X-linked 2y6m - - - Johan den Dunnen 00433037
0000323564 antibody deficiency including hyper IgM syndrome primary immunodeficiency disease - Familial, autosomal recessive 7y - - - Johan den Dunnen 00433038
0000323565 antibody deficiency including hyper IgM syndrome primary immunodeficiency disease - Familial, X-linked 20y - - - Johan den Dunnen 00433039
0000323566 antibody deficiency including hyper IgM syndrome primary immunodeficiency disease - Familial, autosomal recessive - - - - Johan den Dunnen 00433040
0000323567 antibody deficiency including hyper IgM syndrome primary immunodeficiency disease - Familial, autosomal recessive - - - - Johan den Dunnen 00433041
0000323568 autoimmune disease primary immunodeficiency disease - Familial, X-linked 6y - - - Johan den Dunnen 00433042
0000323569 autoimmune disease primary immunodeficiency disease - Familial, autosomal dominant 20y - - - Johan den Dunnen 00433043
0000323570 autoimmune disease primary immunodeficiency disease - Familial, autosomal dominant 20y - - - Johan den Dunnen 00433044
0000323571 autoimmune disease primary immunodeficiency disease - Familial, autosomal dominant 14y - - - Johan den Dunnen 00433045
0000323572 autoimmune disease primary immunodeficiency disease - Isolated (sporadic) 8y - - - Johan den Dunnen 00433046
0000323573 autoimmune disease primary immunodeficiency disease - Unknown 6y - - - Johan den Dunnen 00433047
0000323574 autoimmune disease primary immunodeficiency disease - Familial, autosomal dominant 20y - - - Johan den Dunnen 00433048
0000323575 autoimmune disease primary immunodeficiency disease - Familial, autosomal dominant 21y - - - Johan den Dunnen 00433049
0000323576 autoimmune disease primary immunodeficiency disease - Unknown - - - - Johan den Dunnen 00433050
0000323577 autoimmune disease primary immunodeficiency disease - Familial, X-linked 12y - - - Johan den Dunnen 00433051
0000323578 autoimmune disease primary immunodeficiency disease - Unknown 12y - - - Johan den Dunnen 00433052
0000323579 autoinflammatory disorder primary immunodeficiency disease - Isolated (sporadic) 6y - - - Johan den Dunnen 00433053
0000323580 autoinflammatory disorder primary immunodeficiency disease - Unknown 9y - - - Johan den Dunnen 00433054
0000323581 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 13y - - - Johan den Dunnen 00433055
0000323582 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 9y - - - Johan den Dunnen 00433056
0000323583 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 28y - - - Johan den Dunnen 00433057
0000323584 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, X-linked 16y - - - Johan den Dunnen 00433058
0000323585 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive - - - - Johan den Dunnen 00433059
0000323586 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 13y - - - Johan den Dunnen 00433060
0000323587 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 6m - - - Johan den Dunnen 00433061
0000323588 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 30y - - - Johan den Dunnen 00433062
0000323589 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 6y - - - Johan den Dunnen 00433063
0000323590 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Isolated (sporadic) 3y - - - Johan den Dunnen 00433064
0000323591 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 3y - - - Johan den Dunnen 00433065
0000323592 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Unknown 4y - - - Johan den Dunnen 00433066
0000323593 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 5y - - - Johan den Dunnen 00433067
0000323594 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 18y - - - Johan den Dunnen 00433068
0000323595 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 25y - - - Johan den Dunnen 00433069
0000323596 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive 2y - - - Johan den Dunnen 00433070
0000323597 combined immunodeficiency (not SCID), selective T cell deficiency primary immunodeficiency disease - Familial, autosomal recessive 12y - - - Johan den Dunnen 00433071
0000323598 common variable immunodeficiency primary immunodeficiency disease - Unknown - - - - Johan den Dunnen 00433072
0000323599 common variable immunodeficiency primary immunodeficiency disease - Unknown 24y - - - Johan den Dunnen 00433073
0000323600 common variable immunodeficiency primary immunodeficiency disease - Isolated (sporadic) 1y - - - Johan den Dunnen 00433074
0000323601 common variable immunodeficiency primary immunodeficiency disease - Unknown 55y - - - Johan den Dunnen 00433075
0000323602 common variable immunodeficiency primary immunodeficiency disease - Familial, autosomal recessive 18y - - - Johan den Dunnen 00433076
0000323603 common variable immunodeficiency primary immunodeficiency disease - Unknown 13y - - - Johan den Dunnen 00433077
0000323604 common variable immunodeficiency primary immunodeficiency disease - Familial, autosomal recessive 16y - - - Johan den Dunnen 00433078
0000323605 common variable immunodeficiency primary immunodeficiency disease - Isolated (sporadic) 6y - - - Johan den Dunnen 00433079
0000323606 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive 6y - - - Johan den Dunnen 00433080
0000323607 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, X-linked 5y - - - Johan den Dunnen 00433081
0000323608 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Unknown 40y - - - Johan den Dunnen 00433082
0000323609 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Unknown 6m - - - Johan den Dunnen 00433083
0000323610 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal dominant 3y - - - Johan den Dunnen 00433084
0000323611 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Unknown 4y - - - Johan den Dunnen 00433085
0000323612 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Unknown 12y - - - Johan den Dunnen 00433086
0000323613 neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia primary immunodeficiency disease - Familial, autosomal dominant 49y - - - Johan den Dunnen 00433087
0000323614 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive - - - - Johan den Dunnen 00433088
0000323615 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Unknown 4y - - - Johan den Dunnen 00433089
0000323616 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal dominant 3y - - - Johan den Dunnen 00433090
0000323617 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal dominant 12y - - - Johan den Dunnen 00433091
0000323618 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive 12m - - - Johan den Dunnen 00433092
0000323619 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive 5m - - - Johan den Dunnen 00433093
0000323620 autoimmune disease primary immunodeficiency disease - Familial, autosomal recessive 8y - - - Johan den Dunnen 00433094
0000323621 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive 13y - - - Johan den Dunnen 00433095
0000323622 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive - - - - Johan den Dunnen 00433096
0000323623 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive - - - - Johan den Dunnen 00433097
0000323624 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, X-linked 9y - - - Johan den Dunnen 00433098
0000323625 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Unknown 3y - - - Johan den Dunnen 00433099
0000323626 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Familial, autosomal recessive 12y - - - Johan den Dunnen 00433100
0000323627 defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency primary immunodeficiency disease - Unknown 5y - - - Johan den Dunnen 00433101
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