| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... |
OMIM:619902 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Autoimmunity, Reactive hypoglycemia, Insulin resistance, Autoimmune anti... |
ORPHA:411593 |
| Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Autoimmunity |
OMIM:612227 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol... |
ORPHA:85445 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
| Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... |
OMIM:601859 |
| Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... |
OMIM:615415 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Inability to walk, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:617303 |
| C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropen... |
OMIM:232220 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
| Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Anal atresia, Hydronephrosis, En... |
OMIM:314390 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Increa... |
OMIM:618534 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, A... |
OMIM:276700 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... |
OMIM:608836 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... |
OMIM:603909 |
| Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal liver lobulation,... |
OMIM:608022 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Autoimmunity |
OMIM:222100 |
| H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Malabsorption, Hepatosplenomegaly, Lymphadenopathy,... |
ORPHA:168569 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Focal segmental glomerulosc... |
OMIM:232200 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Autoimmunity, Lack ... |
ORPHA:277 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Anal atre... |
OMIM:613091 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Thrombocytopenia, Hepatosplen... |
ORPHA:505248 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Nephrolithiasis, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic ... |
ORPHA:293964 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... |
ORPHA:251004 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Gastroesophageal reflux, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Decreased circula... |
OMIM:607594 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Posteriorly placed anus, Biliary atresia, H... |
OMIM:306955 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... |
OMIM:130650 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Villous atrophy, Ureteral hypoplasia, Hepatic cysts, Per... |
ORPHA:79328 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Ankyloglossia, Hypoplastic spleen |
OMIM:602361 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Hepatoblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas... |
ORPHA:116 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Esophageal stricture, Leukopen... |
OMIM:617053 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Reduced natural killer cell activity, Reduced antigen-specific T cel... |
OMIM:619374 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Mucopolysacchariduria, Tip-toe gait, Enla... |
OMIM:252500 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Microphallus, Hyperechogenic kidneys, Median cleft palate, Enlarged kidney |
OMIM:612651 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia |
OMIM:185070 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Rectal prolapse, Long penis, Hypercalciuria, Megarectum, Nephroca... |
ORPHA:508 |
| Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
ORPHA:572 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Intestinal malrotation, Hepatopulmonary fusion, Patent... |
OMIM:618280 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr... |
ORPHA:500095 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
| Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Insulin resistanc... |
ORPHA:2298 |
| Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
| Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos... |
ORPHA:699 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Splenomegaly... |
OMIM:312870 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Narrow palat... |
OMIM:300855 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplastic spleen,... |
OMIM:601186 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, High, narrow palate, Enuresis nocturna, Gastroesophageal refl... |
OMIM:615873 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Per... |
ORPHA:90038 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:613179 |
| Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Decreased T cell activation |
ORPHA:66628 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Decreased T cell activation |
ORPHA:179494 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
| Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric... |
ORPHA:93932 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Autoimmunity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Oligoclonal T cell expansion, Autoimmunity, Decreased lymphocyte proliferation in response to mit... |
ORPHA:83471 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Reduced natural killer cell activity, Increased circulating IgA leve... |
OMIM:301000 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
| Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis |
ORPHA:109 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
| Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
| Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Diabetes mellitus |
ORPHA:2237 |
| Vici Syndrome |
|
Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ... |
OMIM:242840 |
| Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Impaired T cell function |
OMIM:176690 |
| Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
| 22Q11.2 Deletion Syndrome |
|
Autoimmunity, Impaired T cell function |
ORPHA:567 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
| Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |
