Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Abnormal autonomic nervous system physiology, Cognitive impairment, Hypotension... |
ORPHA:369873 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Lymphopenia |
OMIM:300988 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556030 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... |
OMIM:610600 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Abnormal autonomic nervous system physiology, Hypotension |
OMIM:156310 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyp... |
OMIM:103900 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... |
OMIM:616636 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Aggressive behavior |
OMIM:618221 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertension, Epistaxis... |
ORPHA:404 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Mental deterioration, Macronodular adrenal hyperplasia, Adr... |
OMIM:219080 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Autism |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608636 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertension, Epistaxis... |
ORPHA:403 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypotension, Adrenocorticotropin defici... |
ORPHA:199296 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... |
OMIM:618261 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hypogonadotropic... |
ORPHA:95619 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome |
OMIM:201910 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... |
ORPHA:101016 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... |
ORPHA:90793 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Hypertension, Increased u... |
OMIM:615954 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... |
OMIM:615767 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome |
OMIM:202110 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormality of circulating catecholamine level, Abnormal autonomic nervo... |
ORPHA:441 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Tricuspid regurgitation, C... |
ORPHA:100080 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Elevated circulating growth hormone concentration, Tricuspid regurgita... |
ORPHA:97287 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Adrenal hyperplasia, Prolonged QT interval, Abnormal circulating renin, ... |
ORPHA:251274 |
Caribbean Parkinsonism |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Autonomic bladder dysfunct... |
ORPHA:97355 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Syncope |
OMIM:143850 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension, Increased circulating reni... |
OMIM:177735 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... |
ORPHA:91354 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Hypotension |
OMIM:264350 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Perry Syndrome |
|
Hypotension, Dementia |
ORPHA:178509 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Palpitations, Adrenal hyperplasia, Hypertension, Epistaxis, Gl... |
ORPHA:231580 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Tricuspid regurgitation, C... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Tricuspid regurgitation, C... |
ORPHA:100082 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Dementia |
OMIM:605543 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... |
OMIM:617514 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions, No social interaction, Aggressive behavior |
ORPHA:329249 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Pulmonary arterial hypertension, Cerebral hemo... |
OMIM:263400 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Decreased circulating antibody level, Pure red cell aplasia |
OMIM:618165 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Hypotension, Increased circulating renin level |
OMIM:203400 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... |
ORPHA:96369 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... |
ORPHA:189439 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Analbuminemia |
|
Hypotension, Hypercholesterolemia |
OMIM:616000 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly |
OMIM:618495 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Orthostatic hypotension, Hypovole... |
ORPHA:427 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... |
ORPHA:189427 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Achalasia, Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervo... |
OMIM:252320 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Decreased seru... |
OMIM:615559 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Second degree atriovent... |
ORPHA:369929 |
Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Adrenal insufficiency, A... |
ORPHA:91349 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Hematemesis, Tricuspid reg... |
ORPHA:100075 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Abnormality of humora... |
ORPHA:277 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Riboflavin Transporter Deficiency |
|
Abnormal autonomic nervous system physiology, Optic disc pallor, Abnormal cranial nerve morpholog... |
ORPHA:97229 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
ORPHA:361 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Decreased ... |
OMIM:231550 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... |
OMIM:616005 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Wild Type Attr Amyloidosis |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:330001 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Vasculitis, Shock, Hypotension |
ORPHA:70578 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... |
OMIM:212138 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Cryptorchidism, Arrhythmia, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... |
OMIM:613101 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Decreased circulatin... |
OMIM:202010 |
Multiple System Atrophy |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... |
ORPHA:102 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension |
ORPHA:79455 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Orthostatic hypote... |
ORPHA:95409 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia |
OMIM:614498 |
Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Thyroid dysgenesis, Arrhythmia, Anterior hypopituitarism, Hypot... |
ORPHA:442 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia |
ORPHA:158014 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism, Hypotension |
ORPHA:85445 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal autonomic nervous system physiology, Hypotension, Memory impairment, Hypothyroidism, Hyp... |
ORPHA:93256 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
Serotonin Syndrome |
|
Mental deterioration, Abnormality of the autonomic nervous system, Tachycardia, Hypotension, Hype... |
ORPHA:43116 |
Inhalational Anthrax |
|
Internal hemorrhage, Abnormal sweat gland morphology, Hypotension |
ORPHA:247257 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hypothyroidism, Hashimoto thyr... |
ORPHA:83601 |
Prolactinoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... |
ORPHA:2965 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Central adrenal insufficiency, Increased circulating prolactin conce... |
ORPHA:91347 |
Multiple System Atrophy, Parkinsonian Type |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... |
ORPHA:98933 |
Duodenal Neuroendocrine Tumor |
|
Melena, Elevated circulating growth hormone concentration, Hematemesis, Glucagonoma, Tricuspid st... |
ORPHA:100076 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palp... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palp... |
ORPHA:100077 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:289548 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Addison Disease |
|
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... |
ORPHA:85138 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... |
ORPHA:449400 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Tetanus |
|
Abnormal autonomic nervous system physiology, Tachycardia, Autonomic bladder dysfunction, Hyperte... |
ORPHA:3299 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Palpitati... |
OMIM:171400 |
Staphylococcal Necrotizing Pneumonia |
|
Increased circulating procalcitonin concentration, Shock, Hypotension, Diabetes mellitus |
ORPHA:36238 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Fabry Disease |
|
Angina pectoris, Abnormal autonomic nervous system physiology, Arrhythmia, Myocardial infarction,... |
OMIM:301500 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... |
ORPHA:168558 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:619802 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Splenomegaly, Lymphopenia |
OMIM:605309 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... |
OMIM:614878 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Diabetes insipidus, Abnormal autonomic nervous system physiology, Diabetes mellitus |
OMIM:598500 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... |
OMIM:600802 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension |
OMIM:618480 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... |
OMIM:613496 |
Boutonneuse Fever |
|
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:83313 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... |
OMIM:617388 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia |
ORPHA:2688 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism |
OMIM:603373 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Dementia |
ORPHA:329284 |
Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Tricuspid stenos... |
ORPHA:100079 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr... |
OMIM:616100 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology, Dementia |
OMIM:300894 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic nervous ... |
OMIM:105210 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia |
ORPHA:33355 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:66628 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619752 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells |
OMIM:301045 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension |
ORPHA:99828 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Multiple System Atrophy, Cerebellar Type |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Raynaud phenomenon,... |
ORPHA:227510 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Autonomic er... |
OMIM:169500 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... |
ORPHA:99147 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level, Abnorma... |
ORPHA:320 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... |
ORPHA:95699 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Cryptorchidism, Hypotension |
ORPHA:439822 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology, Abnorma... |
ORPHA:314652 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:188 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... |
ORPHA:90794 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension, Increased circulating reni... |
OMIM:607364 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia |
OMIM:300635 |
Alpha-Heavy Chain Disease |
|
Anemia, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... |
ORPHA:443811 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Decreased circulating renin level, Neoplasm of the adrenal gland, Increased circ... |
ORPHA:231625 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Meningococcal Meningitis |
|
Papilledema, Shock, Hypotension |
ORPHA:33475 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circulating antibody level... |
OMIM:601495 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... |
OMIM:613011 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Cushing Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... |
ORPHA:96253 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating androgen concentration, Elevate... |
ORPHA:90796 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Whipple Disease |
|
Hypotension, Myocarditis, Hypothyroidism, Myocardial infarction, Gastrointestinal hemorrhage, Per... |
ORPHA:3452 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Mastocytosis |
|
Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Hypotension |
ORPHA:98292 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Adrenal calcification, Hypovolemia, Cognitive impairment, Hypotension, Primary adren... |
ORPHA:275761 |
Alexander Disease |
|
Precocious puberty, Abnormal autonomic nervous system physiology, Sudden cardiac death, Hypotensi... |
ORPHA:58 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Necrotizing Enterocolitis |
|
Shock, Hypotension, Bradycardia |
ORPHA:391673 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Lymphopenia, Leukopenia, Increased circulating IgG level, Thromb... |
OMIM:615934 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemia, Increased ... |
OMIM:615816 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Posttransplant Acute Limbic Encephalitis |
|
Memory impairment, Abnormal autonomic nervous system physiology, Cognitive impairment |
ORPHA:163921 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Gitelman Syndrome |
|
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Delayed pu... |
OMIM:263800 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... |
ORPHA:90790 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Scrub Typhus |
|
Hypotension, Myocarditis |
ORPHA:83317 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Ethylene Glycol Poisoning |
|
Facial palsy, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... |
ORPHA:31826 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... |
OMIM:615122 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Legionnaires Disease |
|
Hypotension, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:549 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... |
ORPHA:572 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypotension |
ORPHA:98850 |
Colchicine Poisoning |
|
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure |
ORPHA:31824 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... |
ORPHA:507 |
Neuroleptic Malignant Syndrome |
|
Abnormal autonomic nervous system physiology, Tachycardia, Pulmonary embolism, Arrhythmia, Hypote... |
ORPHA:94093 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch block, Adrena... |
ORPHA:99827 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Wolfram Syndrome |
|
Dementia, Abnormal autonomic nervous system physiology, Optic atrophy, Male hypogonadism, Hypogon... |
ORPHA:3463 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Abnormal social behavior, Depression, Anxiety, Panic attack, Emotional lability, Irr... |
ORPHA:255 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
Hennekam-Beemer Syndrome |
|
Optic atrophy, Telangiectasia of the skin, Arrhythmia, Hypotension |
ORPHA:2135 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia |
ORPHA:96181 |
Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Autonomic erectile dysfunction, Abnormal autonomic nervous sys... |
ORPHA:85443 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Absent specific antibody response, Ap... |
OMIM:102700 |
Congenital Enterovirus Infection |
|
Hypotension, Cardiomyopathy, Myocarditis |
ORPHA:292 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608049 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Lujo Hemorrhagic Fever |
|
Mental deterioration, Hypotension, Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia |
ORPHA:319213 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ... |
ORPHA:449432 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Poliomyelitis |
|
Hypertension, Abnormal motor nerve conduction velocity, Hypotension, Hypovolemic shock |
ORPHA:2912 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Myocardial infarcti... |
ORPHA:99889 |
Immunodeficiency 43 |
|
Decreased circulating IgG level |
OMIM:241600 |
Porphyria Variegata |
|
Hypertension, Tachycardia, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervo... |
ORPHA:79473 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... |
ORPHA:275 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, Shock, Inte... |
ORPHA:340 |
Simple Cryoglobulinemia |
|
Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro... |
ORPHA:91139 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Cholera |
|
Tachycardia, Hypotension, Hypovolemic shock |
ORPHA:173 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Arrhythmia, Hypotension, Congestive heart failure |
ORPHA:428 |
Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Progressive forgetfulness, Abnormal autonomic nervous system physiology, De... |
ORPHA:282166 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Graves disease, Abnormal T-wave, ST segment depression, Type II diabete... |
ORPHA:358 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Abnormal autonomic nervous system physiology, Syncope |
ORPHA:71273 |
Bacterial Toxic-Shock Syndrome |
|
Tachycardia, Hypotension, Myocarditis, Shock, Capillary leak |
ORPHA:36234 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... |
OMIM:313900 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... |
ORPHA:90045 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly |
ORPHA:3162 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
Infantile Neuroaxonal Dystrophy |
|
Abnormal autonomic nervous system physiology, Mental deterioration, Optic atrophy, Psychomotor de... |
ORPHA:35069 |
Childhood Absence Epilepsy |
|
Depression, Anxiety, Low self esteem, Abnormal social behavior |
ORPHA:64280 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:90362 |
Nelson Syndrome |
|
Type II diabetes mellitus, Adrenocorticotropic hormone excess, Increased circulating cortisol lev... |
ORPHA:199244 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Cognitive impairment |
OMIM:146500 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension |
ORPHA:134 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly |
ORPHA:2137 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia |
ORPHA:2268 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myeloid leukemia |
ORPHA:48104 |
Cystic Fibrosis |
|
Decreased circulating antibody level |
ORPHA:586 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Abnormal autonomic nervous system physiology, Dementia |
OMIM:616840 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... |
OMIM:615745 |
Hellp Syndrome |
|
Internal hemorrhage, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology, Dementia |
OMIM:600072 |
Griscelli Syndrome |
|
Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ... |
ORPHA:381 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia |
OMIM:256800 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Autonomic bladder dysfunction, Hypogonadotropic hypogonadism, Delayed puberty |
ORPHA:447896 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... |
OMIM:304790 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal autonomic nervous system physiology, Cognitive impairment, Orthostatic hypotension, Auto... |
ORPHA:99027 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... |
ORPHA:913 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Young-Onset Parkinson Disease |
|
Frontal lobe dementia, Dementia, Abnormal autonomic nervous system physiology, Cognitive impairment |
ORPHA:2828 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... |
OMIM:615952 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia |
OMIM:209920 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Decreased heart rate variability, Ineffective esophageal peristalsis, Aganglionic megacolon, Abno... |
OMIM:209880 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Budd-Chiari syndrome, Hypotension, Internal hemorrhage, Portal hyperte... |
ORPHA:88673 |
Marburg Hemorrhagic Fever |
|
Orchitis, Hypovolemia, Tachycardia, Hypotension, Shock, Internal hemorrhage, Subconjunctival hemo... |
ORPHA:99826 |
Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology, Dementia |
OMIM:109150 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Rett Syndrome |
|
Increased serum leptin, Abnormal autonomic nervous system physiology |
ORPHA:778 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Abnormal autonomic nervous system physiology, Arrhythmia, Progressive neurologic... |
ORPHA:2131 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Memory impairment, Abnormal autonomic nervous system physiolog... |
ORPHA:247234 |
Nmda Receptor Encephalitis |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Ovarian teratoma, Neoplasm... |
ORPHA:217253 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:301000 |
Rift Valley Fever |
|
Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:319251 |
Leptospirosis |
|
Papilledema, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjunctival h... |
ORPHA:509 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... |
ORPHA:297 |
Dyskeratosis Congenita, Digenic |
|
Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... |
OMIM:620040 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Increased circulating IgM level, Increased circulating IgG level |
ORPHA:562639 |
Lambert-Eaton Myasthenic Syndrome |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology |
ORPHA:43393 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity |
OMIM:243000 |
Good Syndrome |
|
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level |
ORPHA:169105 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Hypotension, Sinus tachycardia, ... |
ORPHA:466650 |
Schimke Immunoosseous Dysplasia |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Abnormal immunoglobulin level, Decreased circulating ... |
OMIM:242900 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |