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Gene: Avpr1a MGI:1859216

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Gene Summary

Name:
arginine vasopressin receptor 1A
Synonyms:
V1aR

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 2.43×10-06

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Viewing: all phenotypes

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.

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Electrocardiogram (ECG)

Waveform Image

7 Images

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Auditory Brain Stem Response

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

8 Images

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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
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors OMIM:618830
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Hypotension, Abnormal autonomic nervous system physiology, C... ORPHA:369873
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
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
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr... OMIM:619924
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating corticosterone lev... ORPHA:556037
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... OMIM:618459
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... OMIM:618987
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating corticosterone lev... ORPHA:556030
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating corticosterone level, Increased circulating renin ... OMIM:610600
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Motor stereotypy OMIM:606053
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen... OMIM:619220
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Reduced social reciprocity, Motor stereot... OMIM:608636
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Mental deterioration, Macronodular adrenal hyperplasia,... OMIM:219080
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:404
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Hypertension, ... ORPHA:403
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Decreased circulating cortisol level, Hypotension, Adrenocorticotropin defici... ORPHA:199296
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Part... OMIM:618261
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne... OMIM:619281
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Abnormal autonomic nervous system physiology, Sinus b... ORPHA:101016
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... ORPHA:98813
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity, Polyphagia, Aggressive behavior ORPHA:329249
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... ORPHA:169154
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte... ORPHA:90793
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Bronchial Neuroendocrine Tumor
Hypotension, Tricuspid regurgitation, Pulmonary carcinoid tumor, Facial telangiectasia, Right ven... ORPHA:97287
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... OMIM:212050
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas... OMIM:615954
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Neuroendocrine Tumor Of The Colon
Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, A... ORPHA:100080
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula... OMIM:615830
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypotension OMIM:611489
Pure Autonomic Failure
Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension, Abnormal autono... ORPHA:441
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal... OMIM:269840
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:603909
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Increased circulating renin level, Hypotension, Hyperaldosteronism OMIM:620125
Orthostatic Hypotensive Disorder, Streeten Type
Syncope, Orthostatic hypotension OMIM:143850
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lymphocyte apoptosis... OMIM:614470
Caribbean Parkinsonism
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Frontal lobe dementia, Dem... ORPHA:97355
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increased circulating... OMIM:177735
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive prima... ORPHA:251274
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Perry Syndrome
Hypotension, Dementia ORPHA:178509
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Neuroendocrine Tumor Of The Rectum
Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H... ORPHA:100082
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:231580
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Leukocytosis, Increased circulating IgM level, Hepatospl... OMIM:209950
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop... OMIM:618048
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Mu-Heavy Chain Disease
Splenomegaly, Anemia, Increased circulating antibody level, Abnormal B cell count ORPHA:100024
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r... OMIM:301082
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Dementia OMIM:605543
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Hyperaldosteronism OMIM:613677
Pigmented Nodular Adrenocortical Disease, Primary, 2
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Mental d... OMIM:610475
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Hypotension OMIM:203400
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Cerebral hemorrhage, Hypotension, Pulmonary ar... OMIM:263400
Inhalational Anthrax
Confusion, Hypotension, Internal hemorrhage, Abnormal sweat gland morphology ORPHA:247257
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiology, Arrhythmia ORPHA:85447
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Adrenocorti... ORPHA:1501
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhage, Tachycardi... ORPHA:449285
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Analbuminemia
Hypercholesterolemia, Hypotension OMIM:616000
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Congenital Tricuspid Stenosis
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... ORPHA:95459
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616910
Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin level, Decreased c... ORPHA:427
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Neuroendocrine Tumor Of Stomach
Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricul... ORPHA:100075
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n... OMIM:231550
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... OMIM:619510
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased circulating complement C3 concentration, Autoimmune hemolytic anemia, Absent isohemaggl... OMIM:615559
Hyperthyroidism, Familial Gestational
Tachycardia, Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating ... OMIM:603373
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hypotension, Hypertrophic cardiomyopa... ORPHA:361
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Memory impairment, Macronodular adrenal hyperplasia, Hy... ORPHA:189427
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Abnormal circulating renin, Pulmonary arterial hypertension, Adrenal hyperplasia, E... ORPHA:369929
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit... ORPHA:276
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c... OMIM:308240
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory... OMIM:618394
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Riboflavin Transporter Deficiency
Diabetes insipidus, Abnormal cranial nerve morphology, Hypertension, Facial palsy, Abnormal auton... ORPHA:97229
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Confusion, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, G... ORPHA:83601
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Immunodeficiency 96
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... OMIM:619774
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Increased circulating IgA level, A... OMIM:612783
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Vasculitis, Hypotension, Shock ORPHA:70578
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... ORPHA:277
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Abnormal autonomic nervous system phy... ORPHA:330001
Serotonin Syndrome
Confusion, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Delirium, Tach... ORPHA:43116
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce... OMIM:240500
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Staphylococcal Necrotizing Pneumonia
Confusion, Hypotension, Increased circulating procalcitonin concentration, Diabetes mellitus, Shock ORPHA:36238
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Cardiac arrest, Abnormal autonomic nervous system physiology, Arrhythmia ORPHA:168593
Immunodeficiency 92
Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce... OMIM:619652
Autism, Susceptibility To, 3
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608049
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... OMIM:212138
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Cutaneous Mastocytoma
Hypotension, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans ORPHA:79455
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys... OMIM:613101
Multiple System Atrophy
Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction... ORPHA:102
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH concentration, Hypotensio... ORPHA:199299
Meningococcal Meningitis
Increased circulating procalcitonin concentration, Papilledema, Hypotension, Shock ORPHA:33475
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Elevated serum ... OMIM:202010
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Confusion, Hypotension, ... ORPHA:542323
Acute Adrenal Insufficiency
Delayed puberty, Orthostatic hypotension, Adrenal hypoplasia, Androgen insufficiency, Hypotension... ORPHA:95409
Aa Amyloidosis
Hypothyroidism, Hypotension, Adrenal insufficiency ORPHA:85445
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Mercury Poisoning
Tachycardia, Confusion, Hypertension, Hypotension ORPHA:330021
Nipah Virus Disease
Hypotension ORPHA:99825
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Aganglionic megacolon OMIM:613870
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypertension, Increased urinary cortisol level, ... ORPHA:786
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Fragile X-Associated Tremor/Ataxia Syndrome
Memory impairment, Hypertension, Hypotension, Abnormal autonomic nervous system physiology, Hypot... ORPHA:93256
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Multiple System Atrophy, Parkinsonian Type
Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction... ORPHA:98933
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Aromatic L-Amino Acid Decarboxylase Deficiency
Increased circulating prolactin concentration, Hypotension ORPHA:35708
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Epilepsy, Familial Focal, With Variable Foci 4
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology OMIM:617935
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:289548
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Addison Disease
Delayed puberty, Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Adrenal... ORPHA:85138
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytopenia ORPHA:83313
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Hypertension, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, ... ORPHA:91347
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon, Pheochromocytoma, Thyroid C cell hyperplasia, Hypertension, Elevated circu... OMIM:171400
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Adrenocorticotropic hormone excess, Tricuspid stenosis, Hypotension, Heart murm... ORPHA:100079
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:168558
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:169160
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Tetanus
Bradycardia, Hypertension, Abnormal autonomic nervous system physiology, Tachycardia, Autonomic b... ORPHA:3299
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... ORPHA:2965
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Hypotension, Small intestine carcinoid, Pulmonic stenosis, Right ventricular ... ORPHA:100078
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegal... OMIM:226990
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... OMIM:617780
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Multiple System Atrophy, Cerebellar Type
Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic erectile dysfunction... ORPHA:227510
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes mellitus, Abnormal autonomic nervous system physiology, Diabetes insipidus OMIM:598500
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Increased circulating IgA level, Sp... OMIM:617388
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology, Dementia ORPHA:329284
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Glomus jug... OMIM:605373
Fabry Disease
Delayed puberty, Congestive heart failure, Angina pectoris, Hypertension, Transient ischemic atta... OMIM:301500
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia ORPHA:33355
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Hypotension, Arrhythmia ORPHA:188
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot... OMIM:620210
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level OMIM:301045
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic... ORPHA:99147
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased circulating IgG leve... OMIM:616100
Posttransplant Acute Limbic Encephalitis
Memory impairment, Confusion, Abnormal autonomic nervous system physiology, Cognitive impairment ORPHA:163921
Dengue Fever
Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Hypotension ORPHA:99828
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Progressive neurologic deterioration, Autonomic erectile dysfunction, Orthostatic hypotension due... OMIM:169500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, Hy... ORPHA:95699
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Hyperten... OMIM:615962
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Abnorma... ORPHA:320
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgi... OMIM:620300
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody level, Splenom... ORPHA:397596
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Pgm3-Cdg
Increased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:443811
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, De... OMIM:301078
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo... OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly OMIM:300635
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Abnormal autonomic nervous system physiology, Reduced left ve... ORPHA:314652
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Glucocortocoid-in... ORPHA:231625
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in females, Abnormal circ... ORPHA:90794
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Cryptorchidism, Hypotension ORPHA:439822
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypertension associ... OMIM:168000
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Childhood Disintegrative Disorder
Abnormal emotion, Reduced social reciprocity, Motor stereotypy ORPHA:168782
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgG level, Increased circulating IgE level, Cutaneous abscess, Eosinophilia... OMIM:243700
Cushing Disease
Optic nerve compression, Memory impairment, Hypertension, Increased urinary cortisol level, Capil... ORPHA:96253
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level OMIM:620532
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Abnormal autonomic nervous system ph... ORPHA:94093
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Confusion, Hypertension, Fa... ORPHA:31826
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... OMIM:618213
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Alexander Disease
Hypertension, Facial palsy, Hypotension, Abnormal autonomic nervous system physiology, Hypothyroi... ORPHA:58
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hypotension, Hypothyroidism, Pericarditis, Myocardial i... ORPHA:3452
Immunodeficiency 22
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... OMIM:615758
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hypotension, Hypovolemia, Pulmonary arterial hype... ORPHA:275761
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG level, Thrombocy... OMIM:620603
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Bartter Syndrome, Type 3
Increased circulating renin level, Hypotension, Hyperaldosteronism, Hyperactive renin-angiotensin... OMIM:607364
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Epistaxis, ... ORPHA:99827
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Increased circulating IgA level, Leukopenia, Lymphopenia... OMIM:615934
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Poliomyelitis
Confusion, Hypertension, Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity ORPHA:2912
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ... ORPHA:90790
Gitelman Syndrome
Delayed puberty, Prolonged QT interval, Hypotension, Increased circulating renin level, Ventricul... OMIM:263800
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Confusion, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Delirium, D... OMIM:277400
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Portal hypertension ORPHA:98850
Legionnaires Disease
Myocarditis, Pericarditis, Hypotension, Arrhythmia ORPHA:549
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Hepatosple... OMIM:615122
Leishmaniasis
Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Leuko... ORPHA:507
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior ORPHA:444002
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypotension, Hypovolemia, Cardiogenic shock, Arrhythmia ORPHA:31824
Hennekam-Beemer Syndrome
Hypotension, Optic atrophy, Telangiectasia of the skin, Arrhythmia ORPHA:2135
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Confusion, Hypotension, Subconjunctival hemorrhage, Mental deterioratio... ORPHA:319213
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia ORPHA:96181
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Wolfram Syndrome
Delayed puberty, Optic atrophy, Gastrointestinal hemorrhage, Male hypogonadism, Diabetes insipidu... ORPHA:3463
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... OMIM:602450
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormal autonomic nervous syste... ORPHA:85443
Amyloidosis, Hereditary, Transthyretin-Related
Confusion, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension ... OMIM:105210
Inherited Creutzfeldt-Jakob Disease
Progressive forgetfulness, Vestibular nystagmus, Confusion, Abnormal autonomic nervous system phy... ORPHA:282166
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Capillary leak, Confusion, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Bacterial Toxic-Shock Syndrome
Myocarditis, Capillary leak, Confusion, Hypotension, Tachycardia, Shock ORPHA:36234
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid... ORPHA:99889
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia OMIM:618165
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology, Mental deterioration, Dementia OMIM:300894
Porphyria Variegata
Tachycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervo... ORPHA:79473
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... OMIM:606367
Autosomal Dominant Hypocalcemia
Optic atrophy, Congestive heart failure, Hypotension, Arrhythmia ORPHA:428
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ... ORPHA:449432
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Hyperactivity, Depression, Recurrent hand flapping, Exces... ORPHA:449291
Caffey Disease
Increased circulating antibody level ORPHA:1310
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Short attention span, Psychomotor de... ORPHA:35069
Cholera
Tachycardia, Hypovolemic shock, Hypotension ORPHA:173
Hsd10 Disease
Dysphagia, Abnormal social behavior ORPHA:391417
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... ORPHA:436159
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin... ORPHA:90045
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Renal Nutcracker Syndrome
Syncope, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tachycardia ORPHA:71273
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Prolonged QT interval, Maternal diabetes, Diabetic ket... ORPHA:358
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... ORPHA:90362
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Multiple Myeloma
Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a... ORPHA:29073
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level ORPHA:3162
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Cognitive impairment OMIM:146500
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia ORPHA:2268
Autoimmune Hepatitis
Increased circulating IgG level, Splenomegaly, Increased circulating antibody level ORPHA:2137
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Increased circulating IgA level, Leukocytosis, Incr... OMIM:617099
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Thrombocytopeni... OMIM:304790
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Hypotension, Tachycardia ORPHA:98849
Nmda Receptor Encephalitis
Orthostatic tachycardia, Orthostatic hypotension, Testicular teratoma, Memory impairment, Abnorma... ORPHA:217253
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Nelson Syndrome
Optic nerve compression, Anterior hypopituitarism, Diabetes insipidus, Secondary hypercortisolism... ORPHA:199244
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Abnormal social behavior, Punding, Depression ORPHA:64280
Iga Pemphigus
Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula... ORPHA:555905
Young-Onset Parkinson Disease
Short attention span, Abnormal autonomic nervous system physiology, Frontal lobe dementia, Cognit... ORPHA:2828
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... OMIM:300755
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Confusion, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST seg... ORPHA:466650
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology, Mental deterioration, Dementia OMIM:616840
Hellp Syndrome
Cerebral hemorrhage, Hypotension, Internal hemorrhage ORPHA:244242
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Confusion, Hypotension, Hypovolemia, Internal hemorrhage, Pericardit... ORPHA:99826
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal temper tantrums, Abnormal social behavior, Motor stereotypy ORPHA:530983
Rett Syndrome
Increased serum leptin, Progressive language deterioration, Abnormal autonomic nervous system phy... ORPHA:778
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Atypical Rett Syndrome
Abnormal autonomic nervous system physiology ORPHA:3095
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed puberty, Optic atrophy, Hypogonadotropic hypogonadism, Autonomic bladder dysfunction ORPHA:447896
Insensitivity To Pain, Congenital, With Anhidrosis
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia OMIM:256800
Griscelli Syndrome
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thro... ORPHA:381
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:615577
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Dementia OMIM:600072
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, H... ORPHA:540
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Netherton Syndrome
Hypereosinophilia, Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p... ORPHA:99027
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Confusion, Hypotension, Intracranial hemorrhage, Adrenal insu... ORPHA:90062
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ineffective esophageal peris... OMIM:209880
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Glucagonoma, Neuroendocrine neoplasm, Elevated circulating parathyro... ORPHA:913
Multiple Endocrine Neoplasia Type 1
Hematemesis, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Hypertension... ORPHA:652
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Machado-Joseph Disease
Abnormal autonomic nervous system physiology, Dementia OMIM:109150
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiac conduction abnormality, Pro... ORPHA:2131
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level, Anemia, Thrombocytopenia ORPHA:319251
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Papilledema, Subconjunctival hemorrhage, Arrhythmi... ORPHA:509
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Dementia, Memory... ORPHA:247234
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... OMIM:208900
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Decreased circulating antibody level, Anemia ORPHA:169105
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... OMIM:301000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... ORPHA:221139
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Granuloma ORPHA:562639
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:620040
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Increased circulating antibody level, Lymphopenia ORPHA:319218
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology, Dementia, Cognitive impairment ORPHA:171695
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Thymoma
Aplastic anemia, Decreased circulating antibody level, Abnormal lymphocyte physiology, Pure red c... ORPHA:99867
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Anemia, Thrombocytosis, Iron deficiency anemia OMIM:226300
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Disinhibition, Abnormal social behavior ORPHA:1020
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating complemen... ORPHA:2298
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati... OMIM:300972
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Trisomy 20P
Macroorchidism, Cryptorchidism, Abnormal autonomic nervous system physiology, Cognitive impairment ORPHA:261318
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology, Dementia OMIM:168600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Reduced circulating complement concentration ORPHA:449427
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology, Short attention span ORPHA:300570
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Low-to-normal blood pressure, Increased circulating renin l... OMIM:601678
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total IgM, Decreased... OMIM:612301
Igg4-Related Kidney Disease
Decreased circulating complement C3 concentration, Increased circulating IgG1 level, Increased ci... ORPHA:449395
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Anemia, Increased B cell count, Increased T ce... OMIM:620376
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Brucellosis
Lung abscess, Liver abscess, Anemia, Increased circulating IgG level, Leukocytosis, Granuloma, In... ORPHA:1304
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Plague
Hematemesis, Hypotension, Delirium, Arrhythmia, Tachycardia ORPHA:707
Acute Transverse Myelitis
Orthostatic hypotension, Hypertension, Abnormal autonomic nervous system physiology, Subarachnoid... ORPHA:139417
Coccidioidomycosis
Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnormality of the s... ORPHA:228123
African Trypanosomiasis
Myocarditis, Congestive heart failure, Abnormality of renin-angiotensin system, Abnormality of th... ORPHA:3385
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Common Variable Immunodeficiency
Decreased circulating antibody level, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hem... ORPHA:1572
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Hyperactive renin-angiotensin system, Hyperaldosteronism, Low-... OMIM:241200
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase... OMIM:256040
Leprosy
Abnormal seventh cranial physiology, Abnormality of the adrenal glands, Abnormal autonomic nervou... ORPHA:548
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Stuve-Wiedemann Syndrome 1
Abnormal autonomic nervous system physiology, Pulmonary arterial hypertension OMIM:601559
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Cryptorchidism, Abnormal autonomic nervous system physiology ORPHA:453499
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG4 leve... ORPHA:79078
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Irritability, Abnormal social behavior, Abnormal aggres... ORPHA:96263
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Spinal Cord Injury
Abnormal autonomic nervous system physiology ORPHA:90058
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci... ORPHA:90363
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Doors Syndrome
Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism ORPHA:79500
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior ORPHA:309263
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior ORPHA:93932
Choreoacanthocytosis
Abnormal autonomic nervous system physiology, Short attention span, Decreased amplitude of sensor... ORPHA:2388
Metachromatic Leukodystrophy, Adult Form
Depression, Emotional lability, Abnormal social behavior ORPHA:309271
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid, Abnormal autonomic nervous system physiology ORPHA:3206
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Abnormal B cell morphology, T lymphocytopenia OMIM:618223
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Epistaxis, Ray... ORPHA:285
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Depression, Impulsivity, Repetitive compulsive behavior,... ORPHA:805
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Viss Syndrome
Increased circulating IgG level, Hypereosinophilia, Increased circulating IgE level, Decreased ci... OMIM:619472
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Niemann-Pick Disease Type C
Abnormal social behavior, Depression, Low frustration tolerance, Compulsive behaviors, Disinhibit... ORPHA:646
Gaisböck Syndrome
Increased hematocrit, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Abnormal social behavior, Inappropriate laughter, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Inappropriate laughter, Overf... ORPHA:363958
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Aggressive behavior ORPHA:314647
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277
Williams Syndrome
Abnormal social behavior, Depression, Compulsive behaviors, Overfriendliness, Attention deficit h... ORPHA:904

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Avpr1a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Avpr1a.

No publications found that use IMPC mice or data for Avpr1a.

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MGI Allele Allele Type Produced
Avpr1aem1(IMPC)J Exon Deletion Mice
Avpr1atm413375(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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