Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe... |
OMIM:619437 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia |
OMIM:610738 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal ... |
OMIM:614172 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent viral infections, Recurrent ... |
OMIM:614868 |
Whim Syndrome 2 |
|
Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... |
OMIM:608957 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae, Neutropenia |
OMIM:193670 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent abscess formation, Verrucae, Recurrent lowe... |
OMIM:613860 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy... |
ORPHA:169079 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Lymphoproliferative disorder, A... |
OMIM:614470 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:613502 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... |
ORPHA:2688 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Myelodysplasia, Autoimmune thrombocytopenia, Recurrent upper respira... |
OMIM:608184 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... |
ORPHA:486 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Chronic oral candidiasis, Recurrent herpes, Decreased proportion of naive T cells, Lymphoprolifer... |
ORPHA:276 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infectio... |
OMIM:616005 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... |
OMIM:243700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, E... |
ORPHA:911 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Myelodysplasia, Anemia of inadequate pro... |
ORPHA:75564 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... |
OMIM:615285 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Au... |
ORPHA:572 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Reduced natural killer cell count, Recurrent infections, Neutro... |
OMIM:615214 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodies, Decrease... |
OMIM:607594 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Sepsi... |
OMIM:617475 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Myelodysplasia, Anemia of in... |
ORPHA:98826 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... |
ORPHA:318 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Chronic o... |
OMIM:616740 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Lymphoma, Recurrent pneumonia, Recurrent bacterial infections, Neoplasm, Recurrent ... |
OMIM:240500 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato... |
OMIM:619523 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Sepsis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... |
OMIM:616871 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun... |
OMIM:613179 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Pancytopenia, Impaired neutrophil chemotaxis, Severe varicella ... |
OMIM:618986 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infectio... |
OMIM:612783 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Recurren... |
ORPHA:331206 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... |
ORPHA:169090 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... |
OMIM:612840 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... |
OMIM:229050 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si... |
OMIM:619707 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurrent upper respiratory tract... |
OMIM:301082 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased... |
ORPHA:169154 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... |
OMIM:159550 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... |
OMIM:615387 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngi... |
OMIM:308240 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, B lymphocy... |
OMIM:601495 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous cand... |
OMIM:147060 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Invasive fungal infection, Increased T cell count, Recurrent mycobacterial infections, Severe vir... |
ORPHA:98813 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ... |
OMIM:116920 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc... |
OMIM:615816 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Recurrent viral infections, Recurrent bacterial infections, B lymphocyto... |
OMIM:618048 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Autoimmune thrombocytopenia |
OMIM:613496 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... |
OMIM:613011 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cell lymphoma, Eo... |
OMIM:102700 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Felty Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha... |
ORPHA:47612 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutrophil morphology... |
ORPHA:51636 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect... |
ORPHA:183675 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte... |
OMIM:615468 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Splenomegaly, Sepsis,... |
OMIM:308230 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... |
ORPHA:88 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle, Reticulocytopen... |
OMIM:600901 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial infection, Inva... |
ORPHA:158048 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Myelodysplasia, Thrombocytopenia, Sepsis, Leukopenia, Recurre... |
OMIM:617053 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle, Reticulocytopen... |
OMIM:227650 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Neutropenia |
ORPHA:2643 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Recurrent infections, Anemia, Neutropenia |
OMIM:617056 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sepsis, Recurrent infections, Neutropenia, Meningitis, Verrucae |
ORPHA:33110 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatospleno... |
ORPHA:98850 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Severe infection, Recurrent tonsillitis, Sepsis, Decreased ... |
ORPHA:2686 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Anemia, Neoplasm, Neutropenia... |
ORPHA:47 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... |
ORPHA:167 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Sepsis, Anemia, Neutropenia |
ORPHA:289916 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:619752 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 55 |
|
Absent natural killer cells, Myelodysplasia, Recurrent infections, Neutropenia, Lymphopenia |
OMIM:617827 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Prolonged G2 phase of cell cycle, Reticulocytopen... |
OMIM:227645 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,... |
OMIM:603903 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative ... |
OMIM:614700 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... |
OMIM:300755 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia... |
ORPHA:508542 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Abnorma... |
ORPHA:221139 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Prolonged G2 phase of c... |
OMIM:227646 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Sepsis, Anemia, Leukopenia, Neutropenia, Meningitis... |
ORPHA:292 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Neutropenia, Leukopenia, Hepatic hemangioma, Capillary hemangi... |
ORPHA:2330 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Anemia, Coombs-positive hemolytic an... |
OMIM:304790 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Recurrent infections, Neoplasm of the skin, Neutropenia |
OMIM:616395 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphoma, Meningitis, Recurrent bacterial infections |
ORPHA:36412 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:79312 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Recurrent infections, Per... |
OMIM:260400 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... |
ORPHA:2968 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Recurrent infec... |
OMIM:302060 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Aspergillosis |
|
Eosinophilia, Hematological neoplasm, Unusual CNS infection, Invasive pulmonary aspergillosis, Ne... |
ORPHA:1163 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Chronic infection, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Fusariosis |
|
Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Invasive fungal i... |
ORPHA:228119 |
Chromomycosis |
|
Recurrent bacterial infections, Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Leukopenia, Recurrent ba... |
OMIM:300972 |
Schimke Immuno-Osseous Dysplasia |
|
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Recurrent infections, Decre... |
ORPHA:1830 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Leukocytosis, Recurrent bacterial infections, Anemia |
OMIM:615895 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Leukopenia, Recurrent s... |
OMIM:604173 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent ... |
OMIM:617303 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections |
OMIM:248500 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... |
ORPHA:906 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe... |
OMIM:617052 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... |
OMIM:612562 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Propionic Acidemia |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:606054 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal T cell morphology, Anemia, Recurrent infections, Neutropenia, Lymphopenia,... |
OMIM:242900 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Recurrent bacterial infections, Neutropenia |
OMIM:232220 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Disseminated viral infection, Splenomegaly, Leukocytosis, Severe infection, Anem... |
ORPHA:90051 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re... |
ORPHA:244 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Recurrent infections, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Pure red cell aplasia, Erythroid hypoplasia, Neutropenia,... |
ORPHA:124 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Trichothiodystrophy |
|
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Defective DNA repair after u... |
ORPHA:33364 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Infectious encephalitis, Thrombocytopenia |
ORPHA:540 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Recurrent infections, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... |
ORPHA:37042 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Recurrent infections, Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Recurrent respiratory infections, Neutropenia |
OMIM:617050 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus... |
OMIM:607944 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Recurrent infections, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas... |
ORPHA:221008 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas... |
ORPHA:2909 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinom... |
ORPHA:221016 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Ne... |
OMIM:557000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia |
ORPHA:79259 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... |
ORPHA:48435 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Recurrent infections, Neutropenia |
OMIM:615471 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatosplen... |
ORPHA:171 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Anemia, Leukopenia, Recurrent bacterial infections, Hemophagocytosis, Thrombo... |
ORPHA:470 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Neutropenia |
OMIM:618005 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... |
OMIM:105650 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Sepsis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:537 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neutropenia |
ORPHA:79430 |
Leigh Syndrome |
|
Severe viral infection, Anemia, Neutropenia |
ORPHA:506 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Glycogen Storage Disease Ic |
|
Hepatoblastoma, Recurrent upper respiratory tract infections, Cyclic neutropenia |
OMIM:232240 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... |
ORPHA:163956 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Kikuchi-Fujimoto Disease |
|
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Meningitis, Thrombocytopenia |
ORPHA:50918 |
Zygomycosis |
|
Brain abscess, Unusual skin infection, Hematological neoplasm, Invasive fungal infection, Neutrop... |
ORPHA:73263 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Severe infection, Anemia, Bone marrow hypocellularit... |
ORPHA:699 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia |
ORPHA:642 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Sepsis, Anemia, Neutropenia |
ORPHA:95455 |
Sponastrime Dysplasia |
|
Recurrent pneumonia, Neutropenia |
ORPHA:93357 |