Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Cervical Cancer |
|
Cervix cancer, Neoplasm |
OMIM:603956 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... |
OMIM:614350 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... |
OMIM:617100 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm |
OMIM:614337 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Gastric diverticulum, Schwannoma, Adenomatous colonic polyposis, Bladd... |
ORPHA:157798 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Solitary Fibrous Tumor |
|
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the n... |
ORPHA:2126 |
Lynch Syndrome 8 |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... |
OMIM:613244 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Thyroid Cancer, Nonmedullary, 4 |
|
Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm |
OMIM:616534 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Spinal cord tumor, Ovarian neoplasm... |
ORPHA:370348 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... |
OMIM:618944 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato... |
OMIM:175200 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... |
ORPHA:247806 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... |
ORPHA:109 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:613500 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine leiomyoma, Hemangioma |
ORPHA:1439 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... |
OMIM:300400 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:618459 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro... |
ORPHA:99880 |
Gonadoblastoma |
|
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... |
ORPHA:206484 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l... |
ORPHA:143 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:180295 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Uterine leiomyoma, Exostoses |
OMIM:616482 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... |
ORPHA:98813 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Xeroderma Pigmentosum, Complementation Group C |
|
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:618969 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma |
ORPHA:97286 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Chordee, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... |
OMIM:619824 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n... |
ORPHA:83469 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory sys... |
ORPHA:2221 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Premature Ovarian Failure 8 |
|
Streak ovary, Ovarian neoplasm |
OMIM:615723 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level |
OMIM:212050 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Male pseudohermaphroditism, Breast carcinoma, Macroorchidism, Abnormality ... |
ORPHA:90790 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:619752 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Oral leukoplakia |
OMIM:620040 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Endometrial carcinoma, Melanoma, High, narrow palate, Breast carcinoma |
ORPHA:457212 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Frasier Syndrome |
|
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism |
OMIM:136680 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:618523 |
Igg4-Related Aortitis |
|
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... |
ORPHA:449400 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
Immunodeficiency 102 |
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Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Peeling Skin Syndrome 1 |
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Increased circulating IgE level |
OMIM:270300 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Increased circulating IgE level |
OMIM:147060 |
Lynch Syndrome |
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Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Oculocutaneous Albinism Type 2 |
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Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Increased circulating IgE level |
ORPHA:217390 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:619510 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Increased circulating IgE level |
OMIM:614328 |
Lhermitte-Duclos Disease |
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Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Squamous cell carcinoma of the skin, Oral leukoplakia, Myelodysplasia |
OMIM:127550 |
Cowden Syndrome 1 |
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Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyp... |
OMIM:158350 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Papillary renal cell carcinoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmon... |
ORPHA:363618 |
Fanconi Anemia, Complementation Group S |
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Narrow palate, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
Werner Syndrome |
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Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level |
ORPHA:3409 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Ectopic Aldosterone-Producing Tumor |
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Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
Thrombocytopenia 1 |
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Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... |
ORPHA:169160 |
Netherton Syndrome |
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Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
Hermansky-Pudlak Syndrome |
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Basal cell carcinoma, Squamous cell carcinoma of the skin, Malabsorption |
ORPHA:79430 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased... |
OMIM:606367 |
Hypotrichosis Simplex Of The Scalp |
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Increased circulating IgE level |
ORPHA:90368 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T... |
ORPHA:331206 |
Netherton Syndrome |
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Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Teratoma, Ovarian |
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Ovarian teratoma |
OMIM:166950 |
Immunodeficiency, Common Variable, 10 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Choroidal melanoma, Intest... |
ORPHA:273 |
Common Variable Immunodeficiency |
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Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
Immunodeficiency 92 |
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Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... |
OMIM:619652 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Squamous cell carcinoma of the skin, Smooth tongue |
ORPHA:79396 |
46,Xy Partial Gonadal Dysgenesis |
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Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Immunodeficiency 22 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:615758 |
Mosaic Variegated Aneuploidy Syndrome |
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Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Cleft palate, Acute lym... |
ORPHA:1052 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I... |
OMIM:102700 |
Xq28 (MECP2) duplication |
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Decreased circulating IgA level |
DECIPHER:45 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Increased circulating IgE level |
ORPHA:2902 |
Sneddon Syndrome |
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Decreased circulating total IgM |
OMIM:182410 |
Carney Complex |
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Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, ... |
ORPHA:1359 |
Immunodeficiency 23 |
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Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level |
OMIM:615816 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... |
ORPHA:276 |
Aspergillosis |
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Increased circulating IgE level |
ORPHA:1163 |
Familial Pancreatic Carcinoma |
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Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Breast carcinoma, Melanoma, Colon cance... |
ORPHA:1333 |
Legius Syndrome |
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Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
17Q11 Microdeletion Syndrome |
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Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:436159 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Decreased circulating IgA level |
OMIM:215250 |
Immunodeficiency 36 With Lymphoproliferation |
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Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:616005 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Increased circulating IgE level, Panhypogammaglobulinemia |
OMIM:602450 |
Igg4-Related Submandibular Gland Disease |
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Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Increased circulating IgE level |
OMIM:304790 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
Transcobalamin Ii Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... |
ORPHA:508533 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... |
ORPHA:3261 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Pgm3-Cdg |
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Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:443811 |
Immunodeficiency 97 With Autoinflammation |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619802 |
Primary Intestinal Lymphangiectasia |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
Lead Poisoning |
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Abnormality of humoral immunity, Increased circulating IgE level |
ORPHA:330015 |
Autosomal Dominant Hyper-Ige Syndrome |
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Increased circulating IgE level |
ORPHA:2314 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Increased circulating IgM level, Decreased circulating IgA level |
OMIM:242860 |
Dermatomyositis |
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Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Neuroendocrine Neoplasm Of Appendix |
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Mechanical ileus, Midgut malrotation, Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of t... |
ORPHA:100079 |
Agammaglobulinemia, X-Linked |
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Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... |
OMIM:300755 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... |
ORPHA:221139 |
Wiskott-Aldrich Syndrome |
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Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hypospadias, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Spinal cord tumor, Narrow pal... |
ORPHA:353281 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Increased circulating IgE level |
OMIM:615508 |
Congenital Disorder Of Glycosylation, Type Ig |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614700 |
Tetrasomy 9P |
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Pilomatrixoma, Cryptorchidism, Cleft palate, Oligozoospermia, High palate, Micropenis, Bifid uvul... |
ORPHA:3310 |
Smith-Kingsmore Syndrome |
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Decreased circulating IgA level |
OMIM:616638 |
Congenital Disorder Of Glycosylation, Type Iib |
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Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Mogs-Cdg |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Apert Syndrome |
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Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula |
ORPHA:87 |
Immunodeficiency 47 |
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Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:300972 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Decreased circulating IgA level |
ORPHA:457485 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hypospadias, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Narrow palate, Hydrocele test... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hypospadias, Intestinal malrotation, Pilomatrixoma, Cryptorchidism, Narrow palate, Hydrocele test... |
ORPHA:353277 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Increased circulating IgE level |
ORPHA:37042 |
Selective Igm Deficiency |
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Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response to vaccina... |
ORPHA:331235 |
Trichinellosis |
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Increased circulating IgE level |
ORPHA:863 |
Igg4-Related Kidney Disease |
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Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449395 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Decreased circulating IgA level |
OMIM:613385 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Ataxia-Telangiectasia |
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Decreased circulating IgG2 level, Decreased circulating IgG level, Defective B cell differentiati... |
OMIM:208900 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve... |
ORPHA:90363 |
Bloom Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:210900 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Bloom Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:125 |
Riddle Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:420741 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Decreased circulating IgA level |
OMIM:613327 |
Celiac Disease, Susceptibility To, 1 |
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Decreased circulating IgA level |
OMIM:212750 |
Simpson-Golabi-Behmel Syndrome |
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Increased circulating IgE level |
ORPHA:373 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Monosomy 18Q |
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Decreased circulating IgA level |
ORPHA:1600 |
Igg4-Related Ophthalmic Disease |
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Increased circulating IgE level, Increased circulating IgG4 level |
ORPHA:449563 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620005 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Decreased circulating total IgM |
OMIM:618162 |
Proteus Syndrome |
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Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Visceral angiomat... |
ORPHA:744 |
Atypical Werner Syndrome |
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Renal neoplasm, Ovarian neoplasm, Neoplasm of the lung, Hypogonadism, Neoplasm of the breast, Neo... |
ORPHA:79474 |
Dubowitz Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:223370 |
Mismatch Repair Cancer Syndrome 3 |
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Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... |
OMIM:619097 |
Viss Syndrome |
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Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level |
OMIM:619472 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:619381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Decreased circulating total IgM |
ORPHA:83617 |