Gene Summary

Name:
arginine vasopressin receptor 1A
Synonyms:
V1aR

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Avpr1aem1(IMPC)J HOM Early adult 2.60×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Avpr1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Avpr1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Parkinsonian-Pyramidal Syndrome