| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... |
ORPHA:251380 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus |
OMIM:617442 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... |
OMIM:615513 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopen... |
OMIM:615285 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Lymphaden... |
OMIM:614034 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Neutropenia, Hemolytic anemia |
OMIM:266130 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St... |
OMIM:612310 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... |
OMIM:616959 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio |
OMIM:617006 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocellularity, Thromb... |
OMIM:617243 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c... |
OMIM:604250 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Optic atrophy, Pancreatitis, Failure to thrive, Hyperammonemia, Hepatomegaly, Thrombocyto... |
ORPHA:79312 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... |
OMIM:300908 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Immunodeficiency 46 |
|
Failure to thrive, Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Optic atrophy, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:289916 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells |
OMIM:618307 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... |
OMIM:300400 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Failure to thrive, Lymphadenopathy, Hepatomegaly,... |
OMIM:615387 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells |
OMIM:616098 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
| X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia |
OMIM:602361 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... |
ORPHA:158061 |
| Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Abnormally low T cell receptor excision circle level, Decreased p... |
OMIM:619374 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia |
OMIM:616949 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia, Hepatomegaly, Neutrope... |
ORPHA:79477 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombo... |
ORPHA:88 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Aplasia of the ovary, Primary amenorrhea |
OMIM:614324 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... |
ORPHA:71275 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
| Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Neutropenia, Acute lymphoblastic leukemia |
OMIM:610738 |
| Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Leukemia, Pancytopenia |
OMIM:614038 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
| Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... |
ORPHA:35858 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased ... |
ORPHA:98850 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid... |
OMIM:226990 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells |
ORPHA:543 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... |
OMIM:269200 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Chronic active hepatitis, Perifoveal ring of hyperautofluorescence, Cholelithiasis, Pig... |
OMIM:240300 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Autoimmune thrombocytopenia, Hepatosplenomegaly, Increased proportion aut... |
OMIM:615559 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| X-Linked Agammaglobulinemia |
|
Anemia, Weight loss, Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Failure to thr... |
ORPHA:47 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia, Rod-cone dystrophy |
ORPHA:244 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Failure to thri... |
OMIM:304790 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Weight loss, ... |
ORPHA:54251 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Failure to thrive, Hyperammonemia, Hepatomeg... |
OMIM:251000 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity |
OMIM:614900 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Sclerosing cholangitis, ... |
ORPHA:572 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive, Elevated circu... |
OMIM:614857 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, Pancytopenia, ... |
OMIM:619767 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Ocular albinism, Macular hypoplasia, Jaundice, Giant neutrophil granules, Lym... |
OMIM:214500 |
| Propionic Acidemia |
|
Anemia, Hyperglycinemia, Pancytopenia, Failure to thrive, Hyperammonemia, Hepatomegaly, Thrombocy... |
OMIM:606054 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... |
OMIM:169400 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
ORPHA:540 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Neonatal Lupus Erythematosus |
|
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Pancytopenia, Cholestasis, Hepat... |
ORPHA:398124 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Failure to thrive, Fola... |
OMIM:258900 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... |
OMIM:251110 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
| Cohen Syndrome |
|
Leukopenia, Childhood-onset truncal obesity, Optic atrophy, Small for gestational age, Bone spicu... |
OMIM:216550 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
| Felty Syndrome |
|
Anemia, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia... |
ORPHA:47612 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hepatitis, Hyperammonemia, Cholestasis, Leuko... |
ORPHA:292 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Letterer-Siwe Disease |
|
Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
| Wolcott-Rallison Syndrome |
|
Decreased body weight, Abnormality of the liver, Exocrine pancreatic insufficiency, Lymphocytosis... |
ORPHA:1667 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Chorioretinitis, B lymphocytopenia, Hepatosplenomegaly, Optic neuritis, Neutropenia |
OMIM:301081 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Failure to thrive, Hyperammonemia,... |
OMIM:251100 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Large for gestational age, Failure to thrive, Bone marrow hypocellularity, Thrombocytopen... |
OMIM:614520 |
| Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... |
ORPHA:331235 |
| Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Failure to thrive... |
ORPHA:2169 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Abnormal optic nerve morphology, Lymphadenopathy, Abnormal neutrophil count, Bone ma... |
ORPHA:3226 |
| Cyclic Neutropenia |
|
Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic n... |
ORPHA:2686 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hyperammonemia, Neutropenia, Optic atrophy |
OMIM:618253 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Highly elevated creatine kinase, Elevated circulating creatine kinase concentratio... |
OMIM:251900 |
| Right Atrial Isomerism |
|
Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decre... |
OMIM:613011 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
| Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Failure to thrive, Macrocytic anemia, Hepa... |
OMIM:275350 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Failure to thri... |
OMIM:308230 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Small for gestational age... |
OMIM:277380 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
| Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Optic atrophy, Chorioretinal hypopigmentation, Macrovesicular hepatic steatos... |
OMIM:617303 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
| Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Weight loss, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, N... |
ORPHA:520 |
| Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... |
ORPHA:811 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytos... |
OMIM:618278 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... |
ORPHA:508533 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Failure to thrive, Hepatomegaly |
OMIM:604273 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:79124 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Jaundice, Pancytopenia, Hepatosplenomegaly, Abnormalit... |
ORPHA:167 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentratio... |
ORPHA:79284 |
| Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Optic atrophy, Abnormal chorioretinal morphology, Pancreatic fibrosis... |
ORPHA:564 |
| Barth Syndrome |
|
Hypochromic microcytic anemia, Failure to thrive, Cyclic neutropenia, Granulocytopenia, Neutropenia |
OMIM:302060 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Small for gestational age, Hyperbilirubinemia, Refractory sideroblasti... |
OMIM:557000 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
ORPHA:276 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Hepatic fibrosis, Pancytopenia, Failure to thrive, Thrombocytopenia, Bone marrow hypo... |
OMIM:613989 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Peritonitis, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Sepsis In Premature Infants |
|
Anemia, Decreased body weight, Small for gestational age, Jaundice, Elevated circulating C-reacti... |
ORPHA:90051 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Decreased prealbumin level, Hepatitis, Neutropenia in presence of a... |
ORPHA:37042 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Small for gestational age, Lymphopenia, Failure to thrive, Bone marrow hypocellularity, H... |
ORPHA:1830 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Small for gestational age, Pancytopenia, Persistence of hemoglobi... |
OMIM:260400 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... |
OMIM:614700 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells |
OMIM:243700 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... |
OMIM:612541 |
| Autosomal Agammaglobulinemia |
|
Hepatitis, Failure to thrive, Neutropenia |
ORPHA:33110 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice |
ORPHA:464370 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Ocu... |
OMIM:608233 |
| Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Methylmalonic acidemia, Optic atrophy, Retinal degeneration, Jaundice, Hype... |
ORPHA:79282 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
| Glycogen Storage Disease Ib |
|
Hyperuricemia, Lipemia retinalis, Pancreatitis, Hepatocellular carcinoma, Pancreatic fibrosis, Hy... |
OMIM:232220 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Hepatic hemangioma, Throm... |
ORPHA:2330 |
| X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia, Decreased body weight, Bone marrow hypocellularity, Optic nerve hypoplasia |
OMIM:609053 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea, Hypoplas... |
OMIM:110100 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Neutropenia, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:604173 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Bi... |
OMIM:249000 |
| Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Splenomegaly, Hepatomegaly, Ocular albinism |
OMIM:617050 |
| Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Ocular albinism, Macular hypoplasia, Macular atrophy, Lymphopenia,... |
OMIM:242840 |
| Pearson Syndrome |
|
Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, ... |
ORPHA:699 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Failure to thrive, Lymphadenopathy, Hemophagocytosis, Elevated ... |
OMIM:619644 |
| Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune hemolytic anemia, Auto... |
ORPHA:1959 |
| Aromatase Deficiency |
|
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermap... |
ORPHA:91 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Neutropenia, Lymphopenia |
OMIM:616395 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Abnormal retinal morphology |
ORPHA:89844 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Viral hepatitis, Failure to thrive, Neutropenia |
OMIM:209920 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Small for gestational age, Lymphopenia, Pancytopenia, Thrombo... |
OMIM:242900 |
| Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
| Aspergillosis |
|
Hepatitis, Neutropenia, Eosinophilia, Vitritis |
ORPHA:1163 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... |
OMIM:600901 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Failure to thrive, Hepatomegaly, Exocrine pancreatic ... |
OMIM:617941 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, E... |
ORPHA:829 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Biliary atresia, Polysplenia, Failure to thrive, Hepatomegaly, Abdominal situs inversus |
OMIM:306955 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Failure to thrive, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
| Immunodeficiency 22 |
|
Anemia, Thrombocytopenia, Abscess, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated circulating C-rea... |
ORPHA:91547 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... |
OMIM:227650 |
| Fusariosis |
|
Brain abscess, Abnormality of the liver, Abnormal retinal morphology, Granuloma, Peritonitis, Lun... |
ORPHA:228119 |
| Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Neutropenia, Infection associated neutropenia, Bone marrow hypocellularity |
ORPHA:445038 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Weight loss, Lymphocytosis, Generalized lymph... |
ORPHA:50918 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
| Thymic Aplasia |
|
Coombs-positive hemolytic anemia, Aplasia of the thymus, T lymphocytopenia, Decreased proportion ... |
ORPHA:83471 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Small for gestational age, Failure to thrive, Hyperammonemia, Neutropenia |
OMIM:615471 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Bone marrow hypocellularity, ... |
OMIM:227645 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... |
ORPHA:227990 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... |
ORPHA:124 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Decreased body weight, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatre... |
OMIM:617053 |
| Cohen Syndrome |
|
Optic atrophy, Obesity, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Neutropenia... |
ORPHA:193 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,... |
ORPHA:227982 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... |
ORPHA:251510 |
| Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Lymphopenia, Decreased... |
OMIM:208900 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Pulmonary lymphangiectasia, Annular pancreas |
OMIM:265380 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosi... |
OMIM:617099 |
| Leigh Syndrome |
|
Anemia, Hyperalaninemia, Optic atrophy, Failure to thrive, Abnormal optic nerve morphology, Neutr... |
ORPHA:506 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Hepatosplenome... |
OMIM:615952 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:607944 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Rectal abscess, B lymphocytopenia |
OMIM:601495 |
| Agammaglobulinemia, X-Linked |
|
Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia |
OMIM:300755 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology |
OMIM:618223 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1302 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Bone marrow hypocellularity, ... |
OMIM:227646 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Failure to thrive, Neutropenia, Pigmentary retinopathy |
OMIM:618460 |
| Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs inversus, Asplenia, Abdominal situs ambiguus |
OMIM:270100 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Retinal degeneration, Macular degene... |
ORPHA:33364 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Abnormality of the pancreas, Abnormality of retinal pigmentation, Failure to thrive, Hepa... |
ORPHA:175 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Cholangitis |
OMIM:614204 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Failure to thr... |
OMIM:612852 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancyt... |
ORPHA:228426 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Hyperuricemia, Hepatocellular adenoma, Hepatocellular carcinoma, Abn... |
ORPHA:79259 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia |
OMIM:251260 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Neutropenia |
OMIM:618005 |
| Rothmund-Thomson Syndrome |
|
Anemia, Calcinosis, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia |
ORPHA:2909 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Failure to thrive, Hepatomegaly, ... |
ORPHA:525731 |
| Toxic Epidermal Necrolysis |
|
Anemia, Weight loss, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:537 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Hermansky-Pudlak Syndrome |
|
Abnormal optic nerve morphology, Neutropenia, Weight loss, Ocular albinism |
ORPHA:79430 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
| Rothmund-Thomson Syndrome Type 1 |
|
Anemia, Calcinosis, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia |
ORPHA:221008 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Failure to thrive, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red... |
OMIM:105650 |
| Zygomycosis |
|
Brain abscess, Hepatitis, Retinal arterial occlusion, Mediastinal lymphadenopathy, Retinal detach... |
ORPHA:73263 |
| Whim Syndrome |
|
Lymphadenitis, Neutropenia, Lymphopenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Rod-cone dystrophy, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosi... |
OMIM:260920 |
| Rothmund-Thomson Syndrome Type 2 |
|
Anemia, Calcinosis, Small for gestational age, Aplastic anemia, Neutropenia, Leukemia |
ORPHA:221016 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Polycystic ovaries, F... |
ORPHA:572333 |
| Glycogen Storage Disease Ic |
|
Hyperuricemia, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Cyclic neutropenia... |
OMIM:232240 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Failure to thrive, Retinal coloboma |
ORPHA:261537 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Neutropenia |
OMIM:617799 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:36238 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
