| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... |
OMIM:617006 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... |
OMIM:247800 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... |
OMIM:614372 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormality of the gastric mucosa |
OMIM:175505 |
| C3 Glomerulopathy |
|
Hematuria, Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Decr... |
ORPHA:329918 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Atrial fibrillation, ... |
ORPHA:976 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Failure to thrive,... |
OMIM:613501 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... |
OMIM:614470 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... |
OMIM:613496 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Decreased serum co... |
ORPHA:567544 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial infections, Recurrent... |
OMIM:616022 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... |
OMIM:613500 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... |
OMIM:618534 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... |
OMIM:206000 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... |
OMIM:308220 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent sinusitis, Obesity, Agammaglobulinemia, Recurrent bacterial inf... |
OMIM:300310 |
| Immunodeficiency 51 |
|
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:601859 |
| Immunodeficiency 24 |
|
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... |
OMIM:615897 |
| C1Q Deficiency |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Decreased s... |
OMIM:613652 |
| Immunodeficiency 27A |
|
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... |
OMIM:209950 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Drug-Induced Lupus Erythematosus |
|
Serositis, Hematuria, Increased blood urea nitrogen, Pericarditis, Decreased serum complement C4,... |
ORPHA:231111 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Abnormal heart morphology, Decreased circulating antibody level, Recurrent ... |
OMIM:617744 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... |
OMIM:616689 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Cir... |
OMIM:607665 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... |
OMIM:603909 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... |
OMIM:310350 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... |
OMIM:619281 |
| Primary Membranoproliferative Glomerulonephritis |
|
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... |
ORPHA:54370 |
| Preeclampsia |
|
Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Thrombocytopeni... |
ORPHA:275555 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... |
OMIM:613779 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... |
OMIM:242870 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:231393 |
| Cardiogenic Shock |
|
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... |
ORPHA:97292 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutr... |
OMIM:614868 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... |
OMIM:618495 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... |
OMIM:610163 |
| Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Hypotension, Weight loss, Oliguria, M... |
ORPHA:188 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... |
OMIM:202700 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... |
OMIM:613495 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... |
ORPHA:449400 |
| Hemorrhagic Fever-Renal Syndrome |
|
Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intra... |
ORPHA:340 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... |
OMIM:617609 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Decreased plasma carnitine, Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Ele... |
ORPHA:159 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... |
OMIM:601495 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent fungal infections, Subarachnoid hemorrhage, Recurrent viral infectio... |
OMIM:243700 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... |
OMIM:616871 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... |
OMIM:619220 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... |
OMIM:237800 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, ... |
OMIM:613502 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... |
OMIM:616414 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... |
OMIM:619375 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Antineutrophil antibody positivity, Leukocytosis, Autoimmunity, Elevated circulating c... |
ORPHA:90060 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level |
OMIM:314000 |
| Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
| Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... |
OMIM:161900 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... |
ORPHA:70592 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne... |
OMIM:608709 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... |
OMIM:612926 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... |
OMIM:612692 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... |
OMIM:304790 |
| Colchicine Poisoning |
|
Cardiogenic shock, Hypocalcemia, Hypophosphatemia, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... |
ORPHA:31824 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... |
OMIM:615008 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia |
OMIM:206100 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... |
OMIM:616963 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... |
ORPHA:169154 |
| Cryohydrocytosis |
|
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... |
OMIM:152700 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... |
OMIM:614817 |
| Yellow Fever |
|
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Congestive heart fai... |
ORPHA:99829 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... |
OMIM:613494 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Th... |
OMIM:617475 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... |
OMIM:605258 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Pericarditis, Interstitial pneu... |
ORPHA:449395 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Autoimmunity, Glomerulopathy, Microscopic hematuria, Decreased serum complement C3... |
ORPHA:79087 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Eleva... |
ORPHA:49041 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:613493 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Complement deficiency, Systemic lupus erythematosus |
OMIM:614380 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... |
OMIM:607594 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Inflammation of the large intestine, Acute hepatitis, Antineutrophil a... |
ORPHA:2137 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, ... |
ORPHA:277 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti... |
ORPHA:275 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... |
ORPHA:3261 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... |
ORPHA:572 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, BCGosis, Severe toxoplasmosis, Lymphadenitis, Histoplas... |
ORPHA:319552 |
| Microscopic Polyangiitis |
|
Renal insufficiency, Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Epistaxis,... |
ORPHA:727 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congestive heart ... |
ORPHA:220393 |
| Apolipoprotein A-I Deficiency |
|
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly |
ORPHA:425 |
| Pgm3-Cdg |
|
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... |
ORPHA:443811 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia |
OMIM:610629 |
| Immunodeficiency 34 |
|
Severe recurrent varicella, Recurrent mycobacterial infections |
OMIM:300645 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Uveitis, Punctate kera... |
OMIM:617388 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Immunodeficiency 35 |
|
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... |
OMIM:611521 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... |
OMIM:233710 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Anti-liver cytosolic antigen ... |
ORPHA:37042 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... |
ORPHA:2688 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Oliguria, Heart murmur, Congestive heart failure, Bacterial endocarditis |
ORPHA:1054 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skin rash, Pustular rash, Thrombocytosis, Pustule, Increased circulating IgA level, Lymphopenia, ... |
OMIM:615934 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612690 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... |
OMIM:209920 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... |
OMIM:608106 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... |
ORPHA:1830 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Cystinuria |
|
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... |
OMIM:220100 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... |
OMIM:618944 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Proteinuri... |
ORPHA:470 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... |
OMIM:233690 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Weight loss, Pulmonic stenosis, Aortic valve stenosis, Hypercalciuria, Failure to thriv... |
OMIM:143880 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... |
OMIM:618982 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoim... |
OMIM:608184 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... |
ORPHA:276 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... |
OMIM:603278 |
| Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine |
OMIM:237400 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... |
OMIM:614131 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Immunodeficiency 23 |
|
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Bronchiectasi... |
OMIM:615816 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... |
OMIM:613673 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... |
OMIM:613860 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Hyperprolinemia, Type Ii |
|
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia |
OMIM:239510 |
| Pauci-Immune Glomerulonephritis |
|
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Elevated circulating crea... |
ORPHA:93126 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Au... |
ORPHA:411593 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... |
OMIM:614376 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... |
OMIM:240500 |
| Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria |
OMIM:222690 |
| Hydroxykynureninuria |
|
Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria |
OMIM:236800 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Type 2 muscle fiber at... |
OMIM:613845 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... |
ORPHA:567548 |
| Chilblain Lupus |
|
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... |
ORPHA:90280 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... |
ORPHA:859 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec... |
OMIM:607624 |
| Ménétrier Disease |
|
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... |
ORPHA:2494 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... |
OMIM:256020 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... |
OMIM:600995 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... |
OMIM:308990 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... |
OMIM:615573 |
| Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive |
OMIM:612075 |
| Renal Tubular Dysgenesis |
|
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... |
OMIM:616730 |
| Cd8 Deficiency, Familial |
|
Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ... |
OMIM:608957 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Sepsis In Premature Infants |
|
Hypotension, Reversible renal failure, Decreased body weight, Oliguria, Tachycardia, Elevated cir... |
ORPHA:90051 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Periodontitis, Neutropeni... |
ORPHA:486 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... |
OMIM:613179 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Selective Igm Deficiency |
|
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... |
ORPHA:331235 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... |
ORPHA:331206 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Arrhythmia, Acute kidney injury, Hypotension, Elevated circulating cre... |
ORPHA:542323 |
| Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe |
ORPHA:1325 |
| Nk-Cell Enteropathy |
|
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... |
ORPHA:263665 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility... |
OMIM:266265 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... |
ORPHA:846 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... |
OMIM:615631 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis |
OMIM:615234 |
| Camptodactyly 1 |
|
Camptodactyly of finger, Increased urinary taurine |
OMIM:114200 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Cardiomyopathy, Carnosinuria, Elevated circulating creatine kinase concentrat... |
OMIM:309930 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome |
ORPHA:69063 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Chronic o... |
ORPHA:911 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive |
OMIM:606528 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive |
ORPHA:2278 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Saccharopinuria |
|
Histidinuria, Citrullinuria, Hyperlysinuria |
OMIM:268700 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... |
OMIM:308230 |
| Iminoglycinuria |
|
Hyperglycinuria, Hydroxyprolinuria, Prolinuria |
OMIM:242600 |
| Iminoglycinuria |
|
Hyperglycinuria, Hydroxyprolinuria, Prolinuria |
ORPHA:42062 |
| Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Whim Syndrome 1 |
|
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... |
OMIM:193670 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... |
ORPHA:169079 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
| Insulin-Resistance Syndrome Type B |
|
Skin rash, Abnormal circulating lipid concentration, Weight loss, Pneumonia, Increased circulatin... |
ORPHA:2298 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... |
ORPHA:766 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:266900 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Decreased serum complement fac... |
ORPHA:2134 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Abscess, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Impaired oxidative burst, Lympho... |
OMIM:618935 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... |
OMIM:618349 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... |
ORPHA:54057 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss, Nephropathy, Abnormal B cell count, Bence Jone... |
ORPHA:100024 |
| Valinemia |
|
Hypervalinemia, Valinuria, Failure to thrive |
OMIM:277100 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Complement deficiency, Nephritis, Arthritis |
OMIM:216950 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation, Patent ductus arteriosus |
ORPHA:2978 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased serum compleme... |
OMIM:613913 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Aminoaciduria, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyp... |
OMIM:268500 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... |
OMIM:300988 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy |
OMIM:242530 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Inclusion Body Myositis |
|
Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... |
OMIM:613011 |
| Galactosemia Iii |
|
Failure to thrive, Hypergalactosemia, Aminoaciduria, Galactosuria |
OMIM:230350 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Acute kidney injury, Reticulocy... |
OMIM:235400 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Ab... |
OMIM:619374 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... |
OMIM:618987 |
| Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... |
OMIM:256100 |
| Dehydrated Hereditary Stomatocytosis |
|
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... |
ORPHA:3202 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Dicarboxylic Aminoaciduria |
|
Aspartic aciduria, Nephrolithiasis, Aminoaciduria |
OMIM:222730 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Severe Combined Immunodeficiency, X-Linked |
|
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... |
OMIM:300400 |
| Immunodeficiency 60 |
|
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... |
OMIM:618394 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... |
OMIM:222800 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hematuria, Renal tubular dysfunction, Hypotension, Renal tubular epithelial necrosi... |
ORPHA:31826 |
| Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Azotemia, Hematuria, Thickened glomerular basement membrane, Glomerulonephritis... |
OMIM:104200 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Hereditary Renal Hypouricemia |
|
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... |
ORPHA:94088 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... |
ORPHA:84090 |
| C3 Glomerulopathy 3 |
|
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
| Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... |
OMIM:274150 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... |
OMIM:610725 |
| Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
| Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
| Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:606996 |
| Tn Polyagglutination Syndrome |
|
Autoimmunity, Abnormal erythrocyte morphology |
OMIM:300622 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis, Recurrent skin infections, Micropenis, Failure to thrive |
OMIM:610680 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Recurrent fungal infections, Erythroderma, Recurrent viral infections, ... |
OMIM:603554 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... |
OMIM:618061 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... |
ORPHA:232 |
| Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arthritis, IgA dep... |
OMIM:178610 |
| Nephrotic Syndrome, Type 6 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... |
OMIM:614196 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Proteinuria, Membranop... |
ORPHA:251004 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hypocapnia, Abnormal pulse pressure, Acute kidney injury, Hypotension, Sinus tachyc... |
ORPHA:466650 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:185000 |
| Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... |
OMIM:135580 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... |
OMIM:109270 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial fibrosis, Hypotension, Renal hypoplasia, Elevated circulating creatinine conce... |
OMIM:174000 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentrat... |
OMIM:245900 |
| Brucellosis |
|
Pericarditis, Intrarenal abscess, Pneumonia, Weight loss, Increased circulating IgG level, Small ... |
ORPHA:1304 |
| Nephrotic Syndrome, Type 8 |
|
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... |
OMIM:615244 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... |
ORPHA:36234 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Ami... |
OMIM:603358 |
| Cholera |
|
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hypotension, Hyponatremia, Abn... |
ORPHA:173 |
| 3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
| Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... |
ORPHA:229 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... |
OMIM:616860 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... |
OMIM:613090 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Persistent EBV viremia, Bronchiectasis, Autoimmune thrombocytop... |
OMIM:617514 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Abnormal T cell morphology, Small for gestational age, Decreased circulati... |
OMIM:215250 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate, Orthostatic hypotension |
OMIM:618182 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia |
OMIM:618314 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hypertensive crisis, Hypo... |
ORPHA:544482 |
| Immune Deficiency Disease |
|
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... |
OMIM:242850 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... |
OMIM:615767 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... |
OMIM:618348 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... |
OMIM:616733 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... |
ORPHA:562639 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Small for gestational age, Hypoalbu... |
OMIM:256300 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
| 5-Oxoprolinase Deficiency |
|
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine |
OMIM:260005 |
| Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
| Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
| Relapsing Fever |
|
Increased total bilirubin, Hematuria, Acute kidney injury, Leukocytosis, Elevated circulating cre... |
ORPHA:91547 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Autoimmunity, Glomerulopathy, Arthritis, Anemia, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Failure to thrive in infancy,... |
OMIM:606367 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... |
ORPHA:79233 |
| Dent Disease 2 |
|
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... |
OMIM:300555 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ... |
OMIM:618986 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:618963 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... |
OMIM:137950 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... |
OMIM:132900 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Heart ... |
ORPHA:3400 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... |
OMIM:300636 |
| Pediatric Systemic Lupus Erythematosus |
|
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Myositis, Re... |
ORPHA:93552 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Patent ductus arteriosus, Neutropenia, Cor triatriatum, Leukopenia, Anemia, Pulmonary arterial hy... |
OMIM:612541 |
| X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... |
ORPHA:2442 |
| Hypomagnesemia 3, Renal |
|
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Polyuria, H... |
OMIM:248250 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Splenomegaly, Anemia, Recurr... |
OMIM:612840 |
| Immunodeficiency 47 |
|
Decreased circulating antibody level, Hepatomegaly, Leukopenia, Splenomegaly, Recurrent bacterial... |
OMIM:300972 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Primary Hyperoxaluria Type 1 |
|
Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer... |
ORPHA:93598 |
| Complement Factor B Deficiency |
|
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections |
OMIM:615561 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Aminoaciduria |
OMIM:204730 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... |
OMIM:308240 |
| Cystathioninuria |
|
Nephrolithiasis, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... |
OMIM:602522 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Telangiectasia of the skin, Inflammatory abnorma... |
ORPHA:542592 |
| Multiple Myeloma |
|
Acute kidney injury, Decreased circulating antibody level, Elevated circulating creatinine concen... |
ORPHA:29073 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... |
OMIM:235700 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lacticaciduria, Hyperglycinemia, Hyperamylasemia, Aminoaciduria, Hyperalaninemia, Elevated circul... |
OMIM:619386 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Increased circulating antibody level, Hyperbilirubinemia, Membranous nephropa... |
ORPHA:400 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Recurre... |
OMIM:307200 |
| Oligomeganephronia |
|
Decreased numbers of nephrons, Proteinuria, Secundum atrial septal defect, Elevated circulating c... |
ORPHA:2260 |
| Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 c... |
OMIM:617575 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss |
ORPHA:79238 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... |
OMIM:616873 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia |
OMIM:239500 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... |
OMIM:301006 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Recurrent systemic pyogenic infections, Spontaneous, r... |
OMIM:214500 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Pneumonia, Absent specific antibody response, Sinusitis, Eosinophilia, ... |
OMIM:102700 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... |
ORPHA:169160 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... |
OMIM:153600 |
| Goodpasture Syndrome |
|
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Anti-myeloperoxidase antibod... |
OMIM:233450 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Elevated circulat... |
ORPHA:730 |
| Boutonneuse Fever |
|
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ... |
ORPHA:83313 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... |
OMIM:615513 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
