Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... |
OMIM:618987 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... |
ORPHA:277 |
Nuchal Bleb, Familial |
|
Stillbirth |
OMIM:257350 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... |
OMIM:620282 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insufficiency, Anemia |
ORPHA:75233 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... |
OMIM:300400 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... |
ORPHA:169154 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur... |
ORPHA:33355 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis |
ORPHA:86893 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... |
OMIM:618261 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra... |
ORPHA:77297 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... |
OMIM:618986 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy, Adre... |
ORPHA:100083 |
Immunodeficiency 102 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... |
OMIM:301082 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ab... |
OMIM:618048 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Foot dorsiflexor weakness, Cachexia, Ragged-red muscle fibers, Weight loss... |
ORPHA:298 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia |
ORPHA:157973 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... |
ORPHA:397596 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Weight loss, Hepatomegaly |
ORPHA:79238 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal h... |
OMIM:152800 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly |
ORPHA:1133 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia... |
ORPHA:37042 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia, Hepatomegaly |
ORPHA:2930 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Immunodeficiency 15B |
|
Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreas... |
OMIM:615592 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Hyperhidrosis |
ORPHA:1672 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... |
OMIM:601457 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Abnormal imm... |
ORPHA:276 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachex... |
ORPHA:42 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig... |
OMIM:616005 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... |
ORPHA:169160 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Mcdonough Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Failure to thrive in infancy, Decreased circulating total IgM, T lymphocytopenia, De... |
OMIM:619510 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... |
OMIM:620210 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... |
OMIM:618108 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, Cachexia |
ORPHA:97229 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... |
ORPHA:1979 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hypoth... |
ORPHA:3452 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth |
OMIM:183300 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Myositis, Lipodystrophy, Hypertriglyceridemia, Splenomegaly, Fle... |
OMIM:617591 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Autoimmune hemolytic anemia, Failure to thrive, Hypo... |
OMIM:613179 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal... |
ORPHA:90362 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Weight ... |
ORPHA:514 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Decreased muscle mass, Cachexia |
ORPHA:85278 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Lymphopenia, Abnormal testis morphology, Decreased circulating antibody ... |
ORPHA:100 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Decreased testicular size, Cachexia |
ORPHA:3242 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... |
OMIM:603909 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Neonatal death, Arthrogry... |
OMIM:618186 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Primary adrenal insufficiency, Cachexia |
ORPHA:2047 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Facial hypotonia, Hip contracture, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicul... |
ORPHA:275761 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Cellulitis, Muscu... |
ORPHA:3165 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Failure to thrive, Myositis, Elevated circulating C-reactive protein con... |
OMIM:615934 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Cellulitis, Abnormality of the... |
ORPHA:47 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Microsporidiosis |
|
Brain abscess, Myositis, Cholangitis, Cachexia, Lymphadenitis, Abnormality of the spleen, Periton... |
ORPHA:2552 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, Hyperkalemia, Leukopeni... |
OMIM:617053 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o... |
ORPHA:400 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Cellulitis, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocel... |
ORPHA:47612 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Fail... |
OMIM:614700 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Prox... |
ORPHA:905 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... |
ORPHA:572 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss, Hernia, Lymphadenopathy |
ORPHA:26790 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Atrophic scars, Lymphopenia, Facial palsy |
OMIM:182410 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Myopat... |
OMIM:185070 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di... |
ORPHA:300605 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, B lymphocytopenia, Hypothyroidism |
OMIM:619851 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou... |
ORPHA:1328 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Tetrasomy 12P |
|
Cachexia, Hypohidrosis |
ORPHA:884 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... |
ORPHA:97289 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... |
ORPHA:2902 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Thromb... |
ORPHA:520 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, I... |
ORPHA:443811 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss, Hyperhidrosis |
ORPHA:84142 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Hyperhidr... |
ORPHA:813 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss, Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess... |
OMIM:612541 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis |
ORPHA:99868 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Noonan Syndrome 12 |
|
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia |
OMIM:618624 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Elevated circulat... |
ORPHA:160 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Supernumerary nipple, Cachexia |
ORPHA:217346 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Lymphocytosis |
ORPHA:139402 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Decrea... |
ORPHA:1572 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Abnormal skeletal muscle morphology, Lymphadenopathy, Nodular goiter, Goiter |
ORPHA:142 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... |
ORPHA:83471 |
Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Macroglossia, Umbilical hernia,... |
ORPHA:2268 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Weight loss, Hernia, Failure to thrive, Anemia |
ORPHA:1842 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Patent ductus arteriosus, Anemia, Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hyperhidrosis, Decreased testicular ... |
ORPHA:85293 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... |
OMIM:617237 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia |
OMIM:312750 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss, Panniculitis, Hepatomegaly |
ORPHA:33577 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Elevated circulating alpha-fetop... |
OMIM:208900 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Portal hypertension, Splenomegaly, Incre... |
ORPHA:465508 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... |
OMIM:300755 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... |
OMIM:610965 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,... |
OMIM:603041 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ce... |
ORPHA:549 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Impaired T cell ... |
ORPHA:1830 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, P... |
OMIM:620005 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Cachexia, Rhabdomyosarcom... |
ORPHA:647 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
Infantile Krabbe Disease |
|
Failure to thrive, Shoulder girdle muscle weakness, Cachexia |
ORPHA:206436 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Weight loss, T... |
ORPHA:71493 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... |
OMIM:601495 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa... |
ORPHA:2072 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Inguinal hernia, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia... |
ORPHA:800 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, Elevated circulating C-re... |
OMIM:619381 |
Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lympho... |
ORPHA:99867 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Neutropenia, Failure to t... |
OMIM:616395 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Poems Syndrome |
|
Lipodystrophy, Polycythemia, Primary adrenal insufficiency, Lymphadenopathy, Weight loss, Increas... |
ORPHA:2905 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Cachexia, Myopathy, Lipoma, Hashimoto thyroiditis |
ORPHA:109 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... |
OMIM:615688 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, H... |
ORPHA:199299 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Hepat... |
OMIM:619487 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter |
OMIM:188580 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Multi... |
OMIM:601186 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Lymphadenopath... |
ORPHA:1333 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Increased circulating IgE level, Incr... |
OMIM:615816 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Skeletal muscle atrophy, Cachexia,... |
ORPHA:191 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating... |
ORPHA:370348 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Hyperhidrosis, Increased ci... |
ORPHA:1304 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T4 concentration, Increased circulating free T3, Weight loss, Hyperhid... |
OMIM:275000 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ... |
ORPHA:293978 |
Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Hypothy... |
ORPHA:84064 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Left ventricular hypertrophy, El... |
OMIM:242840 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Hyperhidrosis, Anemia |
ORPHA:52417 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Myositis, Abnormality of the spleen, Peritonitis, Celluli... |
ORPHA:228119 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Generalized amyotrophy, Hypoalbuminemia, Neopla... |
ORPHA:171 |
Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... |
OMIM:242900 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism, ... |
ORPHA:3380 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone marrow hyp... |
ORPHA:508542 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Abnormality o... |
ORPHA:781 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Weight loss, Knee flexion contracture, Distal amyotrophy, Skeletal myopa... |
ORPHA:3208 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Takayasu Arteritis |
|
Weight loss, Anemia, Hyperhidrosis |
ORPHA:3287 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Increased circulating free T4 concentration, Hyperthyroidism, Weight loss, Hypokalemia, Increased... |
OMIM:613239 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome... |
ORPHA:75565 |
Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Lymphopenia, Hypoth... |
OMIM:617575 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Aplasia/Hypopla... |
ORPHA:354 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Increased... |
ORPHA:2298 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss |
ORPHA:729 |
Proteus Syndrome |
|
Thymus hyperplasia, Decreased muscle mass, Macroorchidism, Abnormal dental enamel morphology, Cac... |
ORPHA:744 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyt... |
ORPHA:93552 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Wei... |
ORPHA:85443 |
Whim Syndrome |
|
Lymphadenitis, Cellulitis, Abnormal neutrophil morphology, Decreased circulating antibody level, ... |
ORPHA:51636 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype... |
ORPHA:20 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Spl... |
OMIM:615846 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Thyroiditis, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis... |
OMIM:212750 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
Alg12-Cdg |
|
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
ORPHA:79324 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Anemia, Weight loss |
ORPHA:324964 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Enthesitis, Lymphadenopathy, Hepatosplenomegaly, Weight loss, Anemia |
ORPHA:85408 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thyroiditis, Neutropenia in presence of... |
ORPHA:391487 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449395 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraprotei... |
ORPHA:91139 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... |
OMIM:607944 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Spleno... |
OMIM:181000 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... |
ORPHA:97283 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... |
ORPHA:97282 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100080 |
Rat-Bite Fever |
|
Parotitis, Lymphadenitis, Tendonitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Addison Disease |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Primary testicular f... |
ORPHA:85138 |
Seckel Syndrome |
|
Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... |
ORPHA:97261 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss |
ORPHA:399 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Central hypoth... |
ORPHA:95427 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure... |
ORPHA:79128 |
Hennekam Syndrome |
|
Camptodactyly of finger, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased cir... |
ORPHA:2136 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... |
ORPHA:90363 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... |
ORPHA:97280 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100075 |
Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... |
ORPHA:732 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100082 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weight loss, D... |
ORPHA:420741 |
Non-Functioning Paraganglioma |
|
Episodic hyperhidrosis, Hypercalcemia, Weight loss |
ORPHA:94080 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Slender build, Cachexia |
ORPHA:558 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Primary adr... |
ORPHA:95409 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Patent ductus arteriosus after premature birth, Corneal scarring, Neutropenia,... |
OMIM:618460 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... |
ORPHA:97278 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Thrombocytopenia, Xerostomia, Thyroiditis,... |
ORPHA:289390 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Eosinophilia, Weight loss |
ORPHA:183 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Biliary hyperplasia, ... |
ORPHA:83617 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Eosinophilia, Portal hypertension, Scarring, Fac... |
ORPHA:797 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Cryptorchidism, Hyperkalemia, Testicular adre... |
ORPHA:361 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Macroglossia, Slender build |
ORPHA:828 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Diastasis recti, Splenomegaly, Knee flexion contracture, Hepato... |
ORPHA:576 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive in infancy, Splenomegaly, ... |
OMIM:219800 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Lymphopenia, Inguinal hernia, Hypocalcemia |
ORPHA:2306 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:913 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Dorsocervical fat pad, Pancreatoblastoma, Pituita... |
ORPHA:99889 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Weight loss, Increa... |
ORPHA:1501 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:100078 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss |
ORPHA:251071 |
Toxic Epidermal Necrolysis |
|
Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis |
ORPHA:397 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia |
ORPHA:36426 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Hypo... |
ORPHA:2126 |
Cushing Disease |
|
Adrenal hyperplasia, Dorsocervical fat pad, Pituitary corticotropic cell adenoma, Leukocytosis, I... |
ORPHA:96253 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... |
ORPHA:440437 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Rhabdomyosarcoma, T lymphocytopenia, B lymphoc... |
OMIM:251260 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los... |
OMIM:164310 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:143 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:144 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss |
ORPHA:3163 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidrosis, Adrenal pheochromocytoma, W... |
ORPHA:276621 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Abnormal dental enamel morphology, Neutropenia |
ORPHA:79430 |
Nocardiosis |
|
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Cellulitis, C... |
ORPHA:31204 |
Yao Syndrome |
|
Xerostomia, Weight loss |
OMIM:617321 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Behçet Disease |
|
Myositis, Orchitis, Splenomegaly, Weight loss, Lymphadenopathy, Pancreatitis |
ORPHA:117 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Multiple lipomas, Pheo... |
ORPHA:652 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Oromandibular Dystonia |
|
Torticollis, Weight loss |
ORPHA:93958 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Hypoplasia of the musc... |
ORPHA:2020 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Weight loss, Anemia, Hyperhidrosis |
ORPHA:35687 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... |
ORPHA:2388 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Fatal Familial Insomnia |
|
Weight loss, Hyperhidrosis |
OMIM:600072 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Cryptorch... |
ORPHA:84 |
Granulomatosis With Polyangiitis |
|
Elevated circulating C-reactive protein concentration, Weight loss, Granulomatosis, Prostatitis, ... |
ORPHA:900 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Elevated circulating growth hormone concentration, Inc... |
ORPHA:91347 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... |
ORPHA:48435 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidrosis, Adrenal pheochromocytoma, W... |
ORPHA:29072 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Weight loss, Inflammatory myopathy, Cellulitis, Chondrocalcinosis |
ORPHA:221 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Lower-limb joint contracture, Pancreatic hypoplasia, Arthrogryposis multiplex congen... |
ORPHA:99885 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:93672 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
Gerstmann-Straussler Disease |
|
Lower limb muscle weakness, Weight loss |
OMIM:137440 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulating surf... |
ORPHA:60025 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomega... |
ORPHA:3385 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Hereditary Late-Onset Parkinson Disease |
|
Hypomimic face, Weight loss |
ORPHA:411602 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Fasciitis, Flexion contracture, Xerostomia, Weight loss |
ORPHA:99921 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Weight loss, Hypophosphatemia, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen, Anemia, Weight loss |
OMIM:233450 |
Reactive Arthritis |
|
Weight loss, Enthesitis |
ORPHA:29207 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Absence of subcutaneous fat, Weight loss |
ORPHA:740 |