Gene Summary

Name:
interleukin 10 receptor, alpha
Synonyms:
CDw210,  mIL-10R,  Il10r

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
increased neutrophil cell number Il10ratm1b(KOMP)Wtsi HOM   Early adult 4.92×10-06
decreased blood urea nitrogen level Il10ratm1b(KOMP)Wtsi HOM   Early adult 3.37×10-05
decreased startle reflex Il10ratm1b(KOMP)Wtsi HOM   Early adult 3.90×10-05
decreased lymphocyte cell number Il10ratm1b(KOMP)Wtsi HOM   Early adult 2.09×10-05
improved glucose tolerance Il10ratm1b(KOMP)Wtsi HOM Early adult 3.89×10-06
abnormal auditory brainstem response Il10ratm1b(KOMP)Wtsi HOM   Early adult 2.27×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Il10ra 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.

The table below shows human diseases associated to Il10ra by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148

The table below shows human diseases predicted to be associated to Il10ra by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Ulcerative colitis OMIM:619398
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Folliculitis, Recurrent skin infections, I... OMIM:300635
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Immunodeficiency 37
Recurrent infections, Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Increased circulating IgG lev... OMIM:610163
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 40
Lymphopenia OMIM:616433
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Malabsorption, Recurrent fungal infections, Colitis, Viral hepati... OMIM:209920
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Increased circ... OMIM:619220
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Recurrent upper respiratory tract infectio... OMIM:613101
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Candida esophagitis, D... OMIM:619281
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased circulating antibo... OMIM:618108
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Arthritis, Acne, Ste... OMIM:604416
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Complement Component C1S Deficiency
Systemic lupus erythematosus, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity, Decreased serum complement factor I OMIM:613652
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... OMIM:614878
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammation of th... OMIM:608809
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Immunodeficiency 58
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... OMIM:618131
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Elevated circulati... OMIM:301074
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Decreased circulating IgA level, Colitis, Decreased... OMIM:619802
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Feeding difficulties, Abdominal pain, Necrotizing enterocolitis, Elevated circulatin... OMIM:616809
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Decreased circul... OMIM:614700
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Skin rash, Anterior uveitis OMIM:616744
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus... ORPHA:324964
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Myeloma, Multiple
Paraproteinemia OMIM:254500
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:540
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Au... ORPHA:449400
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Decreased prealbumin level, Vomiting, Pneum... ORPHA:37042
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Increased circulating IgG level OMIM:618495
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Decreased circulating antibody level, Esophageal stenosis OMIM:615190
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Pso... OMIM:243150
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma,... OMIM:301220
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Recurrent bacterial infe... OMIM:243700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, ... ORPHA:2137
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Decreased serum iron, Villous atrophy, Chr... OMIM:614602
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Feeding difficulti... ORPHA:411696
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis OMIM:613412
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o... ORPHA:67
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Immunodeficiency 27A
Increased circulating IgM level, Rheumatoid factor positive, Increased circulating IgG level OMIM:209950
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Elevated circulating creatine kinase conce... OMIM:614576
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Megaloblastic anemia, Sideroblastic anemia, Abnormal autonomic ... OMIM:598500
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:911
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Elevated circulating creatine... OMIM:201475
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Sepsis, Decrea... OMIM:616100
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Abdominal pain, Recurrent bacterial infections, Elevated circulating creatine ki... OMIM:615895
Abcd Syndrome
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... OMIM:600501
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Abnormality of humoral immunity, Anti-thyroid peroxidase antibody positi... ORPHA:277
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, Diarrhea, Vomiting, Pneumonia, ... OMIM:619381
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Recurrent oral h... OMIM:619652
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomac... ORPHA:331235
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Decreased liver function, Elevated circulating... ORPHA:90051
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Sepsis, Vomiting, Myocarditis, Uveitis... ORPHA:810
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Antinuclear antibody positivity, Increased circulating IgA level, In... OMIM:617388
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Increased c... ORPHA:562639
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Severe viral infection, Pneumoni... ORPHA:544482
Hyperlipoproteinemia, Type Id
Colitis, Hyperlipoproteinemia, Pancreatitis, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:615947
Iga Pemphigus
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... ORPHA:555905
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Candida esophagitis, Eosinophilic infiltration of the esophagus, Pancolitis, Inc... OMIM:618213
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Increased circulating IgA level, Rheumatoid factor positive... OMIM:615934
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis, Autoimmunity, Autoimmune th... OMIM:614470
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Inflammatory abnormality of the skin, Enterocolitis, Recurrent upper respiratory tra... ORPHA:391487
Spondyloarthropathy, Susceptibility To, 1
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... OMIM:106300
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Anticardiolipin IgG antibody positivity, Absent isohemagglu... OMIM:615559
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Cyclic Neutropenia
Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Opportunistic infection, Otitis media, S... ORPHA:2686
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Melena, Increased circulating IgA level, H... OMIM:301000
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Anti... ORPHA:3261
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Head ti... ORPHA:3240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Crohn's disease, Recurrent tonsillitis, Eczema, Lymphadenitis, Acute pancreatitis,... OMIM:618935
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Hypokalemia, Pancreatitis, Intussusception, Abdominal pain, Perit... ORPHA:90038
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased liver function, Decreased circulating IgA... ORPHA:2442
Kimura Disease
Increased circulating IgE level ORPHA:482
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Juvenile rheumatoid arthritis, ... ORPHA:275
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus OMIM:614162
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:615577
Autoinflammation, Immune Dysregulation, And Eosinophilia
Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia, Eosinophilic liver infiltration OMIM:618999
Sapho Syndrome
Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... ORPHA:793
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, C3 nephritic factor positivity, Aut... ORPHA:329918
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... OMIM:617241
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Recurrent bacterial infections, Hepatocellular carcinoma, Gout, Inf... OMIM:232220
Zygomycosis
Melena, Pancreatitis, Unusual gastrointestinal infection, Gastritis, Diarrhea, Vomiting, Acute in... ORPHA:73263
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid factor positive, Monoc... ORPHA:91139
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Elevated circulating C-reactive protein concentration, Hypokalemia, ... OMIM:619573
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Complement deficiency, Increased circulating IgG level, Inc... ORPHA:449432
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Thymoma
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Decreased circulating ant... ORPHA:99867
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hash... ORPHA:64744
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... ORPHA:74
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Hermansky-Pudlak Syndrome 1
Colitis, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:203300
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:331206
Pgm3-Cdg
High palate, Sepsis, Eczema, Chronic sinusitis, Recurrent viral infections, Lactose intolerance, ... ORPHA:443811
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Rheumatoid factor positive, Inc... OMIM:615816
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... ORPHA:84064
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Hyposerinemia, Feeding difficulties ORPHA:79350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Periodontitis, Hyperlipidemia, Pancreatitis, Enterocolitis, Recurrent bacterial infections, Diarr... ORPHA:79259
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Abdominal distention... ORPHA:186
Ataxia-Telangiectasia
Tremor, Type II diabetes mellitus, Lymphopenia, Diabetes mellitus ORPHA:100
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating anti... OMIM:308240
Cocaine Intoxication
Bloody diarrhea, Colitis, Abdominal pain, Elevated circulating creatine kinase concentration, Vom... ORPHA:90068
Familial Mediterranean Fever
Crohn's disease, Elevated circulating C-reactive protein concentration, Episodic abdominal pain, ... OMIM:249100
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Autoimmunity, Increased circula... OMIM:616005
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... ORPHA:309031
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Autoimmune thrombocytopenia, Decreased circulating antibody leve... OMIM:613011
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Sandifer Syndrome
Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... ORPHA:71272
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Sneddon Syndrome
Tremor, Facial palsy, Lymphopenia OMIM:182410
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... ORPHA:206443
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Pancreatitis, Adenocarcinoma of the large intest... ORPHA:171
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... ORPHA:2908
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnorm... ORPHA:3226
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:619510
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... ORPHA:99027
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Increased circulating IgA level, Decreased serum complement factor ... ORPHA:2298
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Elevated circulating C-reactive protein conce... ORPHA:70591
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Reactive Arthritis
Osteomyelitis, Pustule, Abdominal pain, Diarrhea, Recurrent urinary tract infections, Inflammatio... ORPHA:29207
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Increased blood urea nitrogen, Optic atrophy, Hearing impair... ORPHA:90321
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus, Diabetes mellitus OMIM:184850
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Caffey Disease
Increased circulating antibody level ORPHA:1310
Idiopathic Hypereosinophilic Syndrome
Malabsorption, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Abdominal pain, Abdom... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intestinal atresia, Inflammation of the large intestine, Bronchiectasis, Dysphagia, Absent uvula,... OMIM:619708
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Decreased... ORPHA:449395
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Antinuclear antibody positivity, Increased circulating IgG4 leve... ORPHA:79078
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Bone marrow hypocellularity, Antineutrophil antibody positivity, Dec... OMIM:301078
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Anorexia, Inflammation of the large intestin... OMIM:181000
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Wiskott-Aldrich Syndrome
Keratitis, Blepharitis, Sinusitis, Hematemesis, Otitis media, Sepsis, Eczema, Chronic otitis medi... ORPHA:906
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Hepatic failure, Recurrent infections, Esophagitis, Decreased serum zinc ORPHA:541423
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Plague
Bloody diarrhea, Enterocolitis, Abdominal pain, Hematemesis, Anorexia, Skin rash, Lymphadenitis, ... ORPHA:707
Immunodeficiency 49
Eosinophilia, Posteriorly rotated ears, Lymphopenia OMIM:617237
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:760
Ataxia-Telangiectasia
Glucose intolerance, Lymphopenia, Intention tremor, Hypoplasia of the thymus, T lymphocytopenia, ... OMIM:208900
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Optic atrophy, Hearing impairment, Prolonged b... ORPHA:206436
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatosplenomegaly, Optic ... ORPHA:79330
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Herpes Simplex Virus Encephalitis
EEG abnormality, Neutrophilia, Leukocytosis ORPHA:1930
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level OMIM:618523
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Hypoglycemia, Lymphopenia OMIM:617575
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis, Diabetes mellitus ORPHA:36238
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level OMIM:147060
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Achalasia, Elevated circulating creatine kinase concentration, Feeding difficulties OMIM:615356
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity ORPHA:2902
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Rift Valley Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:319251
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Absent specific antibody response, Decreased circulating total I... OMIM:102700
Q Fever
Increased circulating antibody level, Antiphospholipid antibody positivity, Anticardiolipin IgG a... ORPHA:781
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Increased circulating IgE level, Autoimmune... OMIM:304790
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Low-set ears ORPHA:2268
Prolidase Deficiency
Increased circulating antibody level, Systemic lupus erythematosus OMIM:170100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Tracheobronchopathia Osteochondroplastica
Esophagitis, Recurrent pneumonia, Recurrent respiratory infections, Pneumonia ORPHA:3348
Hereditary Hyperekplexia
Gastroesophageal reflux, Hiatus hernia, Esophagitis ORPHA:3197
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Systemic lupus erythematosus, Decreased circulating IgG level, R... ORPHA:183675
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Hearing impairment, Neutropenia, Anemia, Thrombocytop... ORPHA:508542
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Brain abscess, Neutrophilia ORPHA:54251
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Feeding difficulties, Vomiting, Esophagitis, Hypoglycinemia, Hyposerinemia ORPHA:79351
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Zollinger-Ellison Syndrome
Episodic abdominal pain, Diarrhea, Duodenal ulcer, Hematochezia, Intestinal obstruction, Nausea, ... ORPHA:913
Multiple Endocrine Neoplasia, Type I
Diarrhea, Peptic ulcer, Esophagitis, Hypercalcemia, Zollinger-Ellison syndrome OMIM:131100
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Low-set, posteriorly rotated ears OMIM:618598
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Frontometaphyseal Dysplasia 2
High palate, Gastroesophageal reflux, Cleft palate, Bifid uvula, Feeding difficulties in infancy,... OMIM:617137
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Tularemia
Increased circulating antibody level ORPHA:3392
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sensorineural hearing impairment, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosi... OMIM:612541
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Hyperlipidemia, High, narrow palate, Inflammation of the large intestine, Hashimoto ... ORPHA:99413
Turner Syndrome
High palate, Hyperlipidemia, High, narrow palate, Inflammation of the large intestine, Hashimoto ... ORPHA:881
Mosaic Monosomy X
High palate, Hyperlipidemia, High, narrow palate, Inflammation of the large intestine, Hashimoto ... ORPHA:99228
Monosomy X
High palate, Hyperlipidemia, High, narrow palate, Inflammation of the large intestine, Hashimoto ... ORPHA:99226
Coccidioidomycosis
Increased circulating IgM level, Increased circulating IgG level ORPHA:228123
Leishmaniasis
Increased circulating antibody level ORPHA:507
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity ORPHA:83600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Brucellosis
Increased circulating IgM level, Rheumatoid factor positive, Increased circulating IgG level ORPHA:1304
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Japanese Encephalitis
EEG abnormality, Neutrophilia, Opisthotonus, Pill-rolling tremor, Decreased motor nerve conductio... ORPHA:79139
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:620040
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis OMIM:617099
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency ORPHA:449427
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Antinuclear antibody positivity, Increased circulating IgE level ORPHA:449563
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoglycemia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Diamond-Blackfan Anemia 7
Esophagitis, Recurrent infections, Cleft palate, Recurrent otitis media OMIM:612562
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Vici Syndrome
Decreased T cell activation, Cutaneous anergy, Decreased circulating IgG level, Decreased circula... OMIM:242840
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Optic atrophy, Thrombocy... OMIM:615688
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... ORPHA:521426
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t... OMIM:300972
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, External ear malformation, Exaggerated startle response ORPHA:438216
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:612301
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Hearing impairment, Macrotia, Low-set ears ORPHA:79255
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Intestinal malrotatio... ORPHA:2538
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Optic atrophy, Tremor, Hearing impairment, Dyst... ORPHA:845
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Crimean-Congo Hemorrhagic Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:99827
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Mgat2-Cdg
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:79329
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating antibody ... ORPHA:90363
Pneumocystosis
Increased circulating antibody level ORPHA:723
Aspergillosis
Increased circulating IgE level ORPHA:1163
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Neutrophilia, Splenomegaly OMIM:612852
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia OMIM:127550
Mowat-Wilson Syndrome
Constipation, Enterocolitis, Cleft palate, Dependency on intravenous nutrition, Submucous cleft o... ORPHA:2152
Lassa Fever
Increased circulating IgM level ORPHA:99824
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2 OMIM:615607
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Increased circulating IgM level OMIM:617303
Multiple Endocrine Neoplasia Type 4
Episodic abdominal pain, Diarrhea, Peptic ulcer, Esophagitis, Hypercalcemia, Zollinger-Ellison sy... ORPHA:276152
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Optic disc pallor OMIM:260920
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Aganglionic megacolon ORPHA:935
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Impaired neutrophil chemot... ORPHA:3132
Scleromyxedema
Paraproteinemia ORPHA:167635
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Leukocyte Adhesion Deficiency Type Ii
Conductive hearing impairment, Neutrophilia, Leukocytosis, Microtia, Small earlobe, Microcytic an... ORPHA:99843
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Bloom Syndrome
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM level ORPHA:505248
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:210900
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:620005
Dubowitz Syndrome
Decreased circulating IgA level, Decreased circulating IgG level OMIM:223370
Mevalonic Aciduria
Increased circulating IgD level