Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
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 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:52416 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Decreased circulatin... |
OMIM:615513 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... |
ORPHA:100024 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
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 |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... |
ORPHA:824 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Failure to thrive, Ab... |
ORPHA:277 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
Nuchal Bleb, Familial |
|
Stillbirth |
OMIM:257350 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... |
OMIM:615401 |
Immunodeficiency 104 |
|
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... |
OMIM:608971 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thromb... |
OMIM:209950 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Distal amyotrophy, Cachexia, Nonprogressive muscular atrophy |
ORPHA:1216 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Wolman Disease |
|
Anemia, Adrenal insufficiency, Cachexia, Bone-marrow foam cells, Hepatomegaly, Splenomegaly |
ORPHA:75233 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Lymphaden... |
ORPHA:83469 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating total IgM, Reduced natural kil... |
OMIM:300400 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Absent circulating B cells, Failure to... |
OMIM:613501 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Weight loss, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... |
ORPHA:33355 |
Carcinoma Of Esophagus |
|
Lymphadenopathy, Obesity, Weight loss |
ORPHA:70482 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
Majeed Syndrome |
|
Flexion contracture, Weight loss, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Leu... |
ORPHA:77297 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Increased circulating antibody l... |
ORPHA:507 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology |
ORPHA:93941 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Lipodystrophy, In... |
OMIM:618048 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Reduced natural killer cell count,... |
OMIM:301082 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Anemia, Decreased muscle mass, Hyperalaninemia, Weight loss, Cachexia, Foot dorsiflexo... |
ORPHA:298 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Myopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:157973 |
Acute Myelomonocytic Leukemia |
|
Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, F... |
OMIM:603554 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ragged-red muscle fibers, Weight loss |
OMIM:613662 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circula... |
OMIM:152800 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Aredyld Syndrome |
|
Cachexia, Hepatomegaly, Lipoatrophy, Splenomegaly, Abnormal dental enamel morphology |
ORPHA:1133 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Weight loss, ... |
ORPHA:54251 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Cachexia, Abnormal blood ion concentration, Myositis,... |
ORPHA:37042 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Cronkhite-Canada Syndrome |
|
Anemia, Cachexia, Splenomegaly, Hepatomegaly |
ORPHA:2930 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... |
OMIM:606843 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:615592 |
Follicular Lymphoma |
|
Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... |
ORPHA:545 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
Diencephalic Syndrome |
|
Hyperhidrosis, Cachexia, Decreased body weight |
ORPHA:1672 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... |
ORPHA:276 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Failure to thr... |
OMIM:601457 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... |
OMIM:619707 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatitis, Increased circulating antib... |
ORPHA:169160 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Elevated circulating creatine kinase concentration, Hepatic stea... |
ORPHA:42 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia, Cryptorchidism |
ORPHA:2471 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegal... |
ORPHA:3226 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Whipple Disease |
|
Hypothyroidism, Anemia, Cachexia, Myositis, Hepatomegaly, Mediastinal lymphadenopathy, Hyponatrem... |
ORPHA:3452 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... |
OMIM:619510 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth |
OMIM:183300 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Flexion contracture, Weight loss, Reduced subcutaneous ... |
ORPHA:1979 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Increased circulating antibody level, Lymphopenia, Myositis, Failure... |
OMIM:617591 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Cachexia, Limb muscle weakness, Facial palsy |
ORPHA:97229 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... |
OMIM:618108 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ... |
OMIM:606367 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Pfapa Syndrome |
|
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Weig... |
ORPHA:90362 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr... |
OMIM:613179 |
Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Anemia, Weight loss, Lymphocytosis, Hypochromic anemia, Acute monocytic l... |
ORPHA:514 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Ataxia-Telangiectasia |
|
Abnormal testis morphology, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... |
ORPHA:100 |
Christianson Syndrome |
|
Cachexia, Arthrogryposis multiplex congenita, Decreased muscle mass |
ORPHA:85278 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia, Skeletal muscle atrophy |
ORPHA:3242 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... |
OMIM:612692 |
Aggressive Systemic Mastocytosis |
|
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocyt... |
ORPHA:98850 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Classic Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Rhabdoid Tumor |
|
Anemia, Weight loss, Neoplasm of the liver, Lymphadenopathy, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Flynn-Aird Syndrome |
|
Cachexia, Skeletal muscle atrophy, Primary adrenal insufficiency |
ORPHA:2047 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Weight loss, Hy... |
ORPHA:275761 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Hypokalemia, Cachexia, Xerostomia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Eosinophilic Fasciitis |
|
Weight loss, Cellulitis, Fasciitis, Abnormal eosinophil morphology, Myositis, Muscular edema, Eos... |
ORPHA:3165 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegal... |
OMIM:613673 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Facial hypotonia, Cachexia, Failure to thrive in infancy |
OMIM:616801 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... |
OMIM:301081 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Myositis, Failure to thrive, Follicular hyperplasia, Skeletal mu... |
OMIM:615934 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... |
ORPHA:35078 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
X-Linked Agammaglobulinemia |
|
Anemia, Weight loss, Cellulitis, Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Re... |
ORPHA:47 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... |
ORPHA:398063 |
Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Decreased body weight, Decreased testicular size, A... |
OMIM:617053 |
Microsporidiosis |
|
Lymphadenitis, Brain abscess, Weight loss, Prostatitis, Hepatitis, Peritonitis, Cachexia, Thyroid... |
ORPHA:2552 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Flexion contracture, Cachexia, Facial diplegia, Limb joint contracture, Arthrogryposis multiplex ... |
OMIM:618186 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Chronic Beryllium Disease |
|
Weight loss, Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy |
ORPHA:133 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin c... |
OMIM:604250 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... |
ORPHA:400 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia, Lymphopenia, Pan... |
OMIM:617780 |
Felty Syndrome |
|
Anemia, Weight loss, Cellulitis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thro... |
ORPHA:47612 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi... |
OMIM:619705 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Hypothyroidism, Decreased circulating total IgM, B lymphocytopenia, Decrease... |
OMIM:614700 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
Wilson Disease |
|
Cirrhosis, Anemia, Proximal muscle weakness in lower limbs, Weight loss, Hepatitis, Jaundice, Hep... |
ORPHA:905 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Hemophagocytosis, Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Perianal abscess, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac... |
OMIM:618935 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... |
ORPHA:572 |
Oculopharyngodistal Myopathy |
|
Tibialis muscle weakness, Abnormality of masseter muscle, Abnormality of orbicularis oris muscle,... |
ORPHA:98897 |
Cyclic Neutropenia |
|
Perianal abscess, Cellulitis, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopat... |
ORPHA:2686 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Knee flexion contracture, Hip contracture, Elbow flexion contracture, Cachexia, EMG: myopathic ab... |
ORPHA:371364 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Hernia, Abnormality of the peritoneum, Weight loss |
ORPHA:26790 |
Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism, Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, In... |
OMIM:618849 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Decreased circulating antibody level, Abnormally low T cell receptor excision circle level, Pancy... |
OMIM:619767 |
Sneddon Syndrome |
|
Atrophic scars, Decreased circulating total IgM, Lymphopenia, Facial palsy |
OMIM:182410 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Retrocollis, Lower-limb joint contracture, Muscle fiber atrophy, Cachexia, Skeletal muscle atroph... |
ORPHA:300605 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemi... |
ORPHA:79124 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Flexion contracture, B lymphocytopenia |
OMIM:619851 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... |
ORPHA:3261 |
Camurati-Engelmann Disease |
|
Leukopenia, Anemia, Abnormal subcutaneous fat tissue distribution, Cachexia, Skeletal muscle atro... |
ORPHA:1328 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Pleural Mesothelioma |
|
Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Tetrasomy 12P |
|
Hypohidrosis, Cachexia |
ORPHA:884 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Weight loss, Increased cir... |
ORPHA:97289 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Large for gestational age, Lymphopenia, Hydrocele testis, H... |
OMIM:605309 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells |
OMIM:619693 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... |
OMIM:619752 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... |
ORPHA:2070 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Weight loss, Elevated circulating C-reactive protein concentration, Leukocytos... |
ORPHA:2902 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Weight loss, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, N... |
ORPHA:520 |
Silver-Russell Syndrome |
|
Hyperhidrosis, Decreased muscle mass, Decreased testicular size, Cachexia, Cryptorchidism, Obesit... |
ORPHA:813 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Oculogastrointestinal Muscular Dystrophy |
|
Myopathy, Cachexia, Skeletal muscle atrophy |
ORPHA:1876 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Macroglossia, Weight loss, Ovarian neoplasm |
ORPHA:2221 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss, Calf muscle hypertrophy |
ORPHA:84142 |
Immunodeficiency 31C |
|
Hypothyroidism, Weight loss, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... |
OMIM:614162 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Patent ductus arteriosus, Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythro... |
OMIM:612541 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepa... |
OMIM:243150 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the peritoneum, Weight loss |
ORPHA:2023 |
Thymic Carcinoma |
|
Weight loss, Hyperhidrosis, Neoplasm of the thymus, Mediastinal lymphadenopathy |
ORPHA:99868 |
Castleman Disease |
|
Anemia, Increased circulating interleukin 6 concentration, Weight loss, Jaundice, Generalized lym... |
ORPHA:160 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Weight loss, Increased circulating antibody ... |
ORPHA:449400 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia |
OMIM:618624 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1302 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au... |
ORPHA:1572 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia, Supernumerary nipple, Cryptorchidism |
ORPHA:217346 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Biliary cirrhosis, Anemia, Abnormal skeletal muscle morphology, Weight loss, Li... |
ORPHA:284 |
Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Weight loss, Nodular goiter, Lymphadenopathy, Goiter |
ORPHA:142 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Icf Syndrome |
|
Anemia, Decreased circulating antibody level, Macroglossia, Lymphopenia, Abnormality of neutrophi... |
ORPHA:2268 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss, Hepatitis, Lymphocytosis, Thyroiditis, Lymphadenopathy, Eosinophilia |
ORPHA:139402 |
Caroli Disease |
|
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Weight loss, Liver abscess, ... |
ORPHA:53035 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Anemia, Hernia, Weight loss, Failure to thrive, Hepatomegaly |
ORPHA:1842 |
Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, Anemia, Cachexia, Subcutaneous lipoma, Refractory anemia, Hypoalbuminemia |
ORPHA:79076 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Weight loss, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticu... |
ORPHA:35858 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Medullary Thyroid Carcinoma |
|
Hyperhidrosis, Weight loss, Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparat... |
ORPHA:1332 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hyperhidrosis, Decreased testicular size, Cachexia, Inguinal hernia, Obe... |
ORPHA:85293 |
Thymic Aplasia |
|
Hypothyroidism, Hypocalcemic tetany, T lymphocytopenia, Decreased lymphocyte proliferation in res... |
ORPHA:83471 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... |
OMIM:613011 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Weight loss, E... |
ORPHA:465508 |
Multiple Myeloma |
|
Anemia, Weight loss, Decreased circulating antibody level, Lymphadenopathy, Increased circulating... |
ORPHA:29073 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Panniculitis, Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Rett Syndrome |
|
Cachexia, Skeletal muscle atrophy |
OMIM:312750 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Cellulitis, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Mono... |
ORPHA:486 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy |
ORPHA:702 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Corneal scarring, Cachexia, Failure to thrive, Hypoalbuminemia, Absence of sub... |
OMIM:610965 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... |
ORPHA:331235 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti... |
OMIM:208900 |
Legionnaires Disease |
|
Cellulitis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Lymphadenopathy, Bone marrow hypocell... |
ORPHA:549 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Anemia, Primary testicular failure, Weight loss, Abnormal testis ... |
ORPHA:85450 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormality of thyroid physiology, Small for gestational age, Lymphopenia, Abnormal lymph... |
ORPHA:1830 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Hepatic fibrosis, Anemia, Decreased circulating IgG lev... |
OMIM:620005 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Cachexia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Thrombocytopeni... |
ORPHA:647 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia, Shoulder girdle muscle weakness |
ORPHA:206436 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating thymidine concentration, Weight loss, Elevated circulating deoxyuridine conc... |
OMIM:603041 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, B lymphocytopenia, Decreased circulating antibody level, Failure to thr... |
OMIM:601495 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Lymphopenia, Failure to thrive, Increased circulating IgA level, Neutro... |
OMIM:616395 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Hyperhidrosis, Weight loss, Thrombocytosis, Splenomegaly, Chronic myeloge... |
ORPHA:71493 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Cholelith... |
ORPHA:2072 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Decreased body weight, Hip contracture, Flexion contracture of toe, Te... |
ORPHA:800 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:601678 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... |
ORPHA:508533 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia, Abnormal circulating creatine concentration |
ORPHA:52503 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Weight loss, Hep... |
OMIM:619381 |
Thymoma |
|
Weight loss, Leukemia, Decreased circulating antibody level, Abnormal lymphocyte proliferation, A... |
ORPHA:99867 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Hashimoto thyroiditis, Myopathy, Skeletal muscle atrophy, Lipoma |
ORPHA:109 |
Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Weight loss, Increased circulating... |
ORPHA:2905 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymph... |
OMIM:615688 |
Graves Disease, Susceptibility To, 1 |
|
Hyperhidrosis, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... |
OMIM:275000 |
Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Cholecystitis, Hepatomegaly, Portal hypertension, Peritonitis, ... |
ORPHA:131 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:90060 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Weight loss, Jaundice, N... |
ORPHA:1333 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... |
ORPHA:699 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter |
OMIM:188580 |
Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hepatitis, Normocytic anemia, Decreased circulating cortisol level, P... |
ORPHA:199299 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss, Hyperkalemia, Increased circu... |
ORPHA:171876 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... |
OMIM:616084 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Acholic stools, Chole... |
ORPHA:65682 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
Immunodeficiency 23 |
|
Hemolytic anemia, Increased circulating IgG level, Lymphopenia, Failure to thrive, Eosinophilia, ... |
OMIM:615816 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Anemia, Hemolytic anemia, Weight loss, Left ventricular hypertr... |
OMIM:619487 |
Cockayne Syndrome |
|
Enamel hypoplasia, Contractures of the large joints, Hyperuricemia, Limb hypertonia, Reduced subc... |
ORPHA:191 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Weight loss, Ly... |
ORPHA:50918 |
Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Decreased T cell activation, Decreased circulating IgG2 level, Lef... |
OMIM:242840 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Hepatomegaly |
ORPHA:2198 |
Fusariosis |
|
Brain abscess, Abnormality of the liver, Cellulitis, Granuloma, Peritonitis, Fasciitis, Lung absc... |
ORPHA:228119 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Hypokalemia, Increased circulating T4 concentration, Decreased thyr... |
OMIM:613239 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Weight loss, Lower limb muscle weakness, Jaundice, Neoplasm of the pancreas, Torticollis,... |
ORPHA:370348 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hypothyroidism, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Brucellosis |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperhidrosis, Abnormality of the liver, Weight los... |
ORPHA:1304 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:293978 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Perianal abscess, Weight loss, Increased circulating interleuk... |
OMIM:301074 |
Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
Trisomy 18 |
|
Camptodactyly of finger, Hernia, Cachexia, Congenital diaphragmatic hernia, Cryptorchidism, Ompha... |
ORPHA:3380 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Focal Myositis |
|
Myositis, Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Diaphragmatic eventration, Multilobulated spleen, Inguinal hernia, Cong... |
OMIM:601186 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hep... |
ORPHA:171 |
Q Fever |
|
Anemia, Abnormality of the liver, Weight loss, Hepatitis, Granuloma, Increased circulating antibo... |
ORPHA:781 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:241200 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia, Weight loss |
ORPHA:79242 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
Malt Lymphoma |
|
Hyperhidrosis, Anemia, Weight loss, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:52417 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
ORPHA:760 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Adrenal insufficiency, Lymphopenia, Cryptorchidism, Hypertriglyceridemia, Hypoalb... |
OMIM:617575 |
Takayasu Arteritis |
|
Hyperhidrosis, Anemia, Weight loss |
ORPHA:3287 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Weight loss, Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia |
ORPHA:67 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Cachexia, Myocardial calcification, Eosinophil... |
ORPHA:75565 |
Proteus Syndrome |
|
Macroorchidism, Ovarian neoplasm, Neoplasm of the thymus, Decreased muscle mass, Enlarged polycys... |
ORPHA:744 |
Systemic Capillary Leak Syndrome |
|
Weight loss, Pancreatitis, Leukocytosis |
ORPHA:188 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Skeletal myopathy, Weight loss, Left ventricular hypertrophy, Skeletal ... |
ORPHA:3208 |
Pyomyositis |
|
Weight loss, Myositis, Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma |
ORPHA:764 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Increa... |
OMIM:127550 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:354 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, E... |
ORPHA:2298 |
Polycythemia Vera |
|
Weight loss, Portal vein thrombosis, Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly |
ORPHA:729 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Avian Influenza |
|
Leukopenia, Rhabdomyolysis, Hepatitis, Lymphopenia, Elevated circulating creatine kinase concentr... |
ORPHA:454836 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Retroperitoneal fibrosis, Weight loss, Nodular goiter, Thyroidi... |
ORPHA:79078 |
Erythrokeratodermia Variabilis |
|
Weight loss, Abnormal testis morphology |
ORPHA:317 |
Loeffler Endocarditis |
|
Weight loss, Left ventricular hypertrophy, Eosinophilia |
ORPHA:75566 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Acute pancreatitis, Thr... |
ORPHA:319218 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Cirrhosis, Weight loss, Neoplasm of the liver, Biliary tract abnormali... |
ORPHA:90003 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Abnormality of the liver, Weight loss, Increased circulating antibod... |
ORPHA:85443 |
Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Myositis, Lymphadenopathy, Thrombocyt... |
ORPHA:93552 |
Whim Syndrome |
|
Lymphadenitis, Abnormality of neutrophil morphology, Cellulitis, Decreased circulating antibody l... |
ORPHA:51636 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Decreased circulating antibody level, Thyroiditis, Hydrocele tes... |
OMIM:158350 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Hyperuricemia, Weight loss, Jaundice, Acute pancreatitis, Hyperammonemia, Thr... |
ORPHA:20 |
Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Anemia, Hemolytic anemia, Weight loss, Limb hypertonia, Hepatitis, Increased circ... |
OMIM:615846 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... |
ORPHA:221139 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Chronic noninfectious lymphadenopathy, Weight loss, Neoplasm of the liver,... |
ORPHA:100085 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Pancreatic calcification, Elevated maternal serum alpha-fetoprote... |
ORPHA:677 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, Small for gestational age, Jaundice, Hypokalemia, Abno... |
OMIM:619573 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Weight loss, Hypokalemia, Portal fibr... |
OMIM:619377 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Hyperammonemia, Thrombocytosis, Leukocytosis, Hepatomegaly |
ORPHA:134 |
Hepatocellular Carcinoma |
|
Anemia, Abnormality of the liver, Hyponatremia, Weight loss, Liver abscess, Hepatic necrosis, Jau... |
ORPHA:88673 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Flexion contracture, Weight loss, Enthesitis, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Alg12-Cdg |
|
Abnormal circulating IgG level, Patent ductus arteriosus, Complete or near-complete absence of sp... |
ORPHA:79324 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Weight loss, Thyroiditis, Failure to thrive, Thrombocytosis, Macrocytic anemia... |
OMIM:212750 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:1969 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:391487 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts, Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Hyponatremia |
ORPHA:178029 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Weight loss, Monoclonal elev... |
ORPHA:91139 |
Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97283 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Abnormality of the pancreas, Lymphopenia, Inguinal hernia, Agammaglobulinemia |
ORPHA:935 |
Bronchial Neuroendocrine Tumor |
|
Weight loss, Increased circulating cortisol level, Hepatomegaly, Chronic noninfectious lymphadeno... |
ORPHA:97287 |
Vipoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97282 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neu... |
OMIM:607944 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Increased circulating antibody level, Enlarged lacrimal glands, Abnormality of T cel... |
OMIM:181000 |
Grfoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Increased circulating pr... |
ORPHA:97261 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Biliary tract neoplasm, Biliary tra... |
ORPHA:100086 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly |
ORPHA:100080 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormality of the anterior pituitary, Decreased retinol-binding protein level, In... |
ORPHA:449395 |
Addison Disease |
|
Thymoma, Hyperuricemia, Primary testicular failure, Decreased circulating aldosterone level, Weig... |
ORPHA:85138 |
Rat-Bite Fever |
|
Lymphadenitis, Anemia, Weight loss, Tendonitis, Parotitis, Pancreatitis |
ORPHA:31205 |
Seckel Syndrome |
|
Cachexia, Abnormal dental enamel morphology |
ORPHA:808 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Jaundice, Hyperbilirubinemia, Lymphopenia, Cholestasis, Hepatomega... |
OMIM:613471 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyperkalemia, Hyponatremia |
ORPHA:90794 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Glucagonoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97280 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss, Atypical scarring of skin |
ORPHA:704 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Anemia, Abnormal circulating lipid concentration, Lymphopenia, Inguinal hernia, T... |
OMIM:616541 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Abnormal blood ion concentration, Failure to thrive, Cholest... |
ORPHA:95427 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... |
OMIM:607459 |
Huntington Disease |
|
Decreased body mass index, Weight loss, Abnormal circulating cholesterol concentration |
ORPHA:399 |
Lymphoid Interstitial Pneumonia |
|
Abnormality of connective tissue, Weight loss, Failure to thrive, Mediastinal lymphadenopathy, He... |
ORPHA:79128 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating ant... |
ORPHA:90363 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly |
ORPHA:100075 |
Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
Hennekam Syndrome |
|
Camptodactyly of finger, Decreased circulating antibody level, Pulmonary lymphangiectasia, Lympho... |
ORPHA:2136 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Polymyositis |
|
Weight loss, Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration... |
ORPHA:732 |
Ppoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Increased circulating prolactin concentration, P... |
ORPHA:97278 |
Marfan Syndrome |
|
Slender build, Inguinal hernia, Cachexia, Skeletal muscle atrophy |
ORPHA:558 |
Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly |
ORPHA:100082 |
Riddle Syndrome |
|
Decreased circulating total IgM, Weight loss, Generalized lymphadenopathy, Elevated circulating a... |
ORPHA:420741 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating aldosterone level, Weight loss, Normocytic anemia, Decreased... |
ORPHA:95409 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroi... |
ORPHA:79102 |
Khan-Khan-Katsanis Syndrome |
|
Anemia, Patent ductus arteriosus after premature birth, Corneal scarring, Lymphopenia, Failure to... |
OMIM:618460 |
Non-Functioning Paraganglioma |
|
Episodic hyperhidrosis, Hypercalcemia, Weight loss |
ORPHA:94080 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Elevated circulating creatinine concentration, Increased circulating antibody level, ... |
ORPHA:99826 |
Primary Sjögren Syndrome |
|
Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Increased circulating antibody level, No... |
ORPHA:289390 |
Cartilage-Hair Hypoplasia |
|
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss, Myositis, Eosinophilia |
ORPHA:183 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, S... |
ORPHA:83617 |
Zollinger-Ellison Syndrome |
|
Multiple lipomas, Extrahepatic cholestasis, Pituitary corticotropic cell adenoma, Weight loss, In... |
ORPHA:913 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Decreased circulating aldosterone level, Weight loss, Testicular adrenal r... |
ORPHA:361 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Normocytic anemia, Renal tubular epithelial necrosis, Hydrocele testis, Increased bl... |
ORPHA:49041 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Weight loss |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Weight loss |
ORPHA:100077 |
Sarcoidosis |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Hypothyroidism, Hyperthyroidism, Hemolytic an... |
ORPHA:797 |
Stickler Syndrome |
|
Cachexia, Macroglossia, Skeletal muscle atrophy, Slender build, Abnormal dental enamel morphology |
ORPHA:828 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypohidrosis, Weight loss, Decreased plasma carnitine, Hypophosphate... |
OMIM:219800 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Weight loss, Congenital diaphragmatic hernia, Cryptorchidism, Obesity |
ORPHA:251071 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... |
ORPHA:424 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Diastasis recti, Hip contracture, Weight loss, Left ventricular hypertr... |
ORPHA:576 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Inguinal hernia, Hypocalcemia, Lymphopenia |
ORPHA:2306 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Hyperhidrosis, Fulminant hepatitis, Lymphopenia, Elevated circulating C-reactive prot... |
ORPHA:319213 |
Adrenocortical Carcinoma |
|
Hyperhidrosis, Hyperaldosteronism, Weight loss, Increased circulating cortisol level, Hypokalemia... |
ORPHA:1501 |
Giant Cell Arteritis |
|
Weight loss, Hyperhidrosis, Mediastinal lymphadenopathy |
ORPHA:397 |
Toxic Epidermal Necrolysis |
|
Anemia, Weight loss, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:537 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymus, Pituitary cort... |
ORPHA:99889 |
Stevens-Johnson Syndrome |
|
Anemia, Weight loss, Abnormality of neutrophils, Thrombocytopenia, Pancreatitis |
ORPHA:36426 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypophosphatemic rickets, Redu... |
ORPHA:2126 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Decreased eosinophil ... |
ORPHA:96253 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... |
ORPHA:440437 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... |
OMIM:251260 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Thyrotoxico... |
ORPHA:99819 |
Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Weight loss, Autophagic vacuoles, EMG: myopathic ... |
OMIM:164310 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Abnormality of the parathyroid morphology, Hypophosphatem... |
ORPHA:143 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Short Syndrome |
|
Lipodystrophy, Inguinal hernia, Weight loss, Abnormal dental enamel morphology |
ORPHA:3163 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Flexion contracture, Weight loss, Neoplasm of the pancreas, Hepatocell... |
ORPHA:144 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Weight loss, Abnormal dental enamel morphology |
ORPHA:79430 |
Glucose-Galactose Malabsorption |
|