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 2.66×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

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
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Obesity Due To Sim1 Deficiency
Abnormal autonomic nervous system physiology, Cognitive impairment, Postural hypotension with com... ORPHA:369873
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556037
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... ORPHA:556030
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating corticost... OMIM:610600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Adrenogenital syndrome, Hyp... OMIM:103900
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Abnormality of the autonomic nervous system, Hypotension OMIM:156310
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness OMIM:618221
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... ORPHA:404
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Hypertension, Adrenal hyperplasia, Primary hypercortisolism, In... OMIM:219080
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... ORPHA:403
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Geniospasm 1
Anxiety OMIM:190100
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... OMIM:619281
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased c... ORPHA:199296
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:201910
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... ORPHA:95619
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... OMIM:615954
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... OMIM:615830
Pure Autonomic Failure
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... ORPHA:441
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Palpitations, Increased serum serotonin, Increa... ORPHA:97287
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Central diabet... ORPHA:91354
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Palpitation... ORPHA:100080
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Abnormal circu... ORPHA:251274
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Increased circu... OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Caribbean Parkinsonism
Dementia, Orthostatic hypotension, Frontal lobe dementia, Autonomic bladder dysfunction, Abnormal... ORPHA:97355
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic hypotension, Syncope OMIM:143850
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism OMIM:264350
Mu-Heavy Chain Disease
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Perry Syndrome
Dementia, Hypotension ORPHA:178509
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Palpitations, Epistaxis, Gl... ORPHA:231580
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Dementia, Abnormal autonomic nervous system physiology OMIM:605543
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
No social interaction, Aggressive behavior, Impaired social interactions ORPHA:329249
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Palpitation... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Palpitation... ORPHA:100082
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension OMIM:203400
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Lack of pee... ORPHA:96369
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Type II diabetes mellitus, H... ORPHA:189439
Congenital Tricuspid Stenosis
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... ORPHA:95459
Analbuminemia
Hypercholesterolemia, Hypotension OMIM:616000
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Orthostatic hypotension, Hypovole... ORPHA:427
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Hypertension, Abnormal response to corticotropin releasing horm... ORPHA:189427
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Achalasia, Decreased nerve conduction velocity, Abnormal autonomic nervo... OMIM:252320
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... ORPHA:90791
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Abnormal autonomic nervous system physiology, Reduced ejection fract... ORPHA:85451
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... ORPHA:1501
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... OMIM:615559
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... OMIM:618108
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Candidiasis, Familial, 2
Increased circulating IgE level, Hypereosinophilia OMIM:212050
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... ORPHA:369929
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Riboflavin Transporter Deficiency
Hypertension, Optic disc pallor, Abnormal cranial nerve morphology, Diabetes insipidus, Facial pa... ORPHA:97229
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... ORPHA:276
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Palpitation... ORPHA:100075
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Decreased circulating aldosterone level, Adrenal insufficiency, Test... ORPHA:361
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Optic atro... OMIM:231550
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... OMIM:603373
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Adult Acute Respiratory Distress Syndrome
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension ORPHA:70578
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... OMIM:202010
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Aganglionic megacolon, Tachycardia, Abnormal autonomic nervous system physiology OMIM:613870
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH level, Pituitary adenoma,... ORPHA:199299
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Androgen insufficiency, Orthostatic hypotension, Primary... ORPHA:95409
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Congenital Hypothyroidism
Hypertension, Optic atrophy, Goiter, Hypogonadism, Abnormality of the thyroid gland, Anterior hyp... ORPHA:442
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology OMIM:614498
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
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Multiple System Atrophy
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... ORPHA:102
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypertension, Decreased circulating aldosterone level, Increased urinary cor... ORPHA:786
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Pituitary Apoplexy
Hypertension, Increased circulating prolactin concentration, Hypergonadotropic hypogonadism, Incr... ORPHA:95613
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Ly... OMIM:617780
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Nipah Virus Disease
Hypotension ORPHA:99825
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Dementia, Hypothyroidism, Hypotension, Memory impairment, Abnormal autonomic nervou... ORPHA:93256
Aa Amyloidosis
Adrenal insufficiency, Hypotension, Hypothyroidism ORPHA:85445
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... ORPHA:293978
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Serotonin Syndrome
Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Mental deterioration, Hyp... ORPHA:43116
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hashimoto th... ORPHA:85138
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:616100
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... ORPHA:2965
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Abnormal autonomic nervous sy... ORPHA:83601
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cryptorchidism, Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-... ORPHA:91347
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Palpitations, Insulinoma, Increased circulating AC... ORPHA:100076
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Increased... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Palpitations, Increased... ORPHA:100077
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Abnormality of the Leydig cells, Elevated circulating fo... ORPHA:289548
Inhalational Anthrax
Abnormal sweat gland morphology, Internal hemorrhage, Hypotension ORPHA:247257
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... ORPHA:169160
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Multiple System Atrophy, Parkinsonian Type
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... ORPHA:98933
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Pheochromocytoma, Aganglionic megacolon, Palpitations, Increased circulating cortis... OMIM:171400
Tetanus
Hypertension, Bradycardia, Tachycardia, Autonomic bladder dysfunction, Abnormal autonomic nervous... ORPHA:3299
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Decreased specific pneumococcal antibody level, Autoimmu... OMIM:613496
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Abnormality of the Leydig cells, Elevated circulating fo... ORPHA:168558
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension, Increased circulating procalcitonin concentration, Diabetes mellitus ORPHA:36238
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia ORPHA:83313
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology OMIM:598500
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... OMIM:617388
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Fabry Disease
Hypertension, Abnormal autonomic nervous system physiology, Delayed puberty, Myocardial infarctio... OMIM:301500
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Splen... OMIM:240500
Immunodeficiency 36
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak ORPHA:542323
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Dementia, Abnormal autonomic nervous system physiology ORPHA:329284
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Tricuspid stenosis, Palpitations, Increased serum serotonin, Primary hypercorti... ORPHA:100079
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... OMIM:605373
Reticular Dysgenesis
Decreased circulating antibody level, Anemia, Abnormality of neutrophils, Leukopenia ORPHA:33355
Neurodegeneration With Brain Iron Accumulation 5
Dementia, Abnormal autonomic nervous system physiology OMIM:300894
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Amyloidosis, Hereditary, Transthyretin-Related
Dementia, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomi... OMIM:105210
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Dengue Fever
Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Hypotension ORPHA:99828
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hypotension OMIM:263400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Acquired Von Willebrand Syndrome
Intracranial hemorrhage, Mitral regurgitation, Aortic regurgitation, Epistaxis, Joint hemorrhage,... ORPHA:99147
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Multiple System Atrophy, Cerebellar Type
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... ORPHA:227510
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Orthostatic hypotension due to aut... OMIM:169500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Apparent Mineralocorticoid Excess
Hypertension, Abnormality of circulating cortisol level, Decreased circulating renin level, Decre... ORPHA:320
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Insulin-resistant diabetes mellitus, Pituit... ORPHA:66628
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Cryptorchidism, Hypotension ORPHA:439822
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Systemic Capillary Leak Syndrome
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:188
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Decreased ... ORPHA:231625
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Decreased circ... ORPHA:90695
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Reduced ejection fraction, Abnormal autonomic nervous system ... ORPHA:314652
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Meningococcal Meningitis
Shock, Papilledema, Hypotension ORPHA:33475
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Lymphoproliferative Syndrome 1
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... OMIM:613011
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperactive renin-angiotensin system, Hypotension, Hyperaldost... OMIM:607364
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Poor eye contact ORPHA:444002
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating follicle stimulating hormone level, Polycystic ovaries, Absence of secondary... ORPHA:90796
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Whipple Disease
Myocarditis, Pericarditis, Myocardial infarction, Gastrointestinal hemorrhage, Hypothyroidism, Hy... ORPHA:3452
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Relapsing Fever
Epistaxis, Tachycardia, Hypotension ORPHA:91547
Cushing Disease
Adrenal hyperplasia, Hypertension, Dementia, Increased urinary cortisol level, Capillary fragilit... ORPHA:96253
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension ORPHA:159
Mastocytosis
Gastrointestinal hemorrhage, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:98292
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Cognitive impairment, Pulmonary arterial hypertension, Primary adrenal... ORPHA:275761
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... OMIM:615934
Alexander Disease
Hypertension, Facial palsy, Diabetes mellitus, Hypothyroidism, Sudden cardiac death, Precocious p... ORPHA:58
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Immunodeficiency 23
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... OMIM:615816
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Memory impairment, Abnormal autonomic nervous system physiology ORPHA:163921
Gitelman Syndrome
Prolonged QT interval, Palpitations, Ventricular tachycardia, Delayed puberty, Increased circulat... OMIM:263800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Scrub Typhus
Myocarditis, Hypotension ORPHA:83317
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... OMIM:615122
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Abnormal circulating a... ORPHA:90790
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... ORPHA:507
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Colchicine Poisoning
Myocarditis, Cardiogenic shock, Congestive heart failure, Hypovolemia, Arrhythmia, Hypotension ORPHA:31824
Legionnaires Disease
Myocarditis, Arrhythmia, Pericarditis, Hypotension ORPHA:549
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... ORPHA:94093
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Facial palsy, Tachycardia, Conge... ORPHA:31826
Dopa-Responsive Dystonia
Agoraphobia, Irritability, Emotional lability, Panic attack, Anxiety, Depression, Abnormal social... ORPHA:255
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Parotitis, Diffuse alveolar hemo... ORPHA:99827
Wolfram Syndrome
Optic atrophy, Dementia, Diabetes insipidus, Cardiomyopathy, Hypogonadism, Gastrointestinal hemor... ORPHA:3463
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Septo-optic dysplasia, Hypogonadotropic hypogonadism, Pituitary hypothy... ORPHA:95494
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypotension ORPHA:98850
Hennekam-Beemer Syndrome
Optic atrophy, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis ORPHA:96181
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Achalasia, Abnormal autonomic nervous system physiology OMIM:615510
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Decreased lymphocyte proli... OMIM:606367
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal salivary gland morphology, Abnormal P wave, Gastrointestina... ORPHA:85443
Lujo Hemorrhagic Fever
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Mental deterioration, Hypotension ORPHA:319213
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity ORPHA:2912
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... ORPHA:99889
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... ORPHA:449432
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... ORPHA:91139
Autosomal Dominant Hypocalcemia
Congestive heart failure, Optic atrophy, Arrhythmia, Hypotension ORPHA:428
Parkinsonism-Dystonia 2, Infantile-Onset
Cognitive impairment, Abnormal autonomic nervous system physiology OMIM:618049
Porphyria Variegata
Hypertension, Tachycardia, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervo... ORPHA:79473
Thrombocytopenia 1
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... OMIM:313900
Hereditary Folate Malabsorption
Decreased circulating antibody level, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Progressive forgetfulness, Dementia, Abnormal autonomic nervous system phys... ORPHA:282166
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Intracranial hemorrhage, Palpitations, Subconjunctival hemorrhage, Epistaxis... ORPHA:340
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Type II diabetes mellitus, Pri... ORPHA:358
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak ORPHA:36234
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology ORPHA:71273
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Sézary Syndrome
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Caffey Disease
Increased circulating antibody level ORPHA:1310
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Depression, Low self esteem ORPHA:64280
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... ORPHA:29073
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Cognitive impairment, Abnormal autonomic nervous system physiology OMIM:146500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Tachycardia, Hypotension ORPHA:98849
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia ORPHA:2268
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Psychomotor deterioration, Mental dete... ORPHA:35069
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Nelson Syndrome
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Type II diabetes mellitu... ORPHA:199244
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:243180
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Dementia, Abnormal autonomic nervous system physiology OMIM:616840
Sheehan Syndrome
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... ORPHA:91355
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... ORPHA:555905
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Ataxia-Telangiectasia
Decreased circulating IgA level, Leukemia, Defective B cell differentiation, Decreased circulatin... OMIM:208900
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Splenomegaly, Thro... ORPHA:381
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Fatal Familial Insomnia
Dementia, Abnormal autonomic nervous system physiology OMIM:600072
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... OMIM:304790
Zollinger-Ellison Syndrome
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... ORPHA:913
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology OMIM:256800
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... ORPHA:540
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia OMIM:209920
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Adult-Onset Autosomal Dominant Leukodystrophy
Dementia, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Or... ORPHA:99027
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Lymphopenia, Thro... OMIM:242900
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibody level, Hepat... OMIM:615952
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Young-Onset Parkinson Disease
Dementia, Frontal lobe dementia, Cognitive impairment, Abnormal autonomic nervous system physiology ORPHA:2828
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Ineffective esophageal peristalsis, Decreased heart rate variability, Abno... OMIM:209880
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Hypogonadotropic hypogonadism, Autonomic bladder dysfunction, Delayed puberty ORPHA:447896
Hepatocellular Carcinoma
Type II diabetes mellitus, Budd-Chiari syndrome, Portal hypertension, Hypotension, Internal hemor... ORPHA:88673
Marburg Hemorrhagic Fever
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia, Orchitis,... ORPHA:99826
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Machado-Joseph Disease
Dementia, Abnormal autonomic nervous system physiology OMIM:109150
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Rett Syndrome
Increased serum leptin, Abnormal autonomic nervous system physiology ORPHA:778
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Limbic Encephalitis With Nmda Receptor Antibodies
Abnormal sudomotor regulation, Orthostatic tachycardia, Neoplasm of the thymus, Orthostatic hypot... ORPHA:217253
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... ORPHA:297
Leptospirosis
Pericarditis, Retinal hemorrhage, Subconjunctival hemorrhage, Pulmonary hemorrhage, Papilledema, ... ORPHA:509
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dementia, Abnormal cranial nerve morphology, Memory impairment, Abnormal autonomic nervous system... ORPHA:247234
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Progressive neurologic deterioration, Cardiomyop... ORPHA:2131
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Good Syndrome
Thrombocytopenia, Decreased circulating antibody level, Anemia, Abnormal leukocyte morphology ORPHA:169105
Lambert-Eaton Myasthenic Syndrome
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology ORPHA:43393
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Thymoma
Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Leukemia, Decreased circulati... ORPHA:99867
Rift Valley Fever
Anemia, Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level ORPHA:319251
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... OMIM:233600
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Hypotensi... ORPHA:466650
Parkinsonian-Pyramidal Syndrome
Dementia, Cognitive impairment, Abnormal autonomic nervous system physiology ORPHA:171695
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology OMIM:243000
Acute Liver Failure
Shock, Adrenal insufficiency, Intracranial hemorrhage, Gastrointestinal hemorrhage, Hypotension ORPHA:90062
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Ebola Hemorrhagic Fever
Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Leukopenia ORPHA:319218
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Insulin-Resistance Syndrome Type B
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... ORPHA:2298
Igg4-Related Pachymeningitis
Complement deficiency, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Prolidase Deficiency
Thrombocytopenia, Increased circulating antibody level, Anemia, Splenomegaly OMIM:170100
Trisomy 20P
Macroorchidism, Cognitive impairment, Cryptorchidism, Abnormal autonomic nervous system physiology ORPHA:261318
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:466934
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level ORPHA:723
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Leukemia, Decreased circulating... OMIM:210900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level OMIM:226300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency