banner
Genes Phenotypes Help, News, Blog

Gene: Il22 MGI:1355307

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
interleukin 22
Synonyms:
IL-22,  Iltif,  IL-TIF

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Il22 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 Il22 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
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
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infect... OMIM:300635
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea OMIM:619398
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decre... ORPHA:930
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... OMIM:209920
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Bronchie... OMIM:617638
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... OMIM:615767
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumonia, Splenomegaly, Diarr... OMIM:269840
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ... ORPHA:397596
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper... OMIM:613101
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chro... OMIM:608971
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative co... OMIM:618394
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveol... OMIM:616050
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Infl... OMIM:619281
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Dietary Iron Overload Disease
Viral hepatitis, Hepatic steatosis, Hepatomegaly, Chronic infection, Increased circulating ferrit... ORPHA:139507
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... OMIM:613960
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Dyspnea, Chronic pulmonar... OMIM:613490
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Sepsis, Recurrent candida infections, Inflammation of the large intestine, De... ORPHA:436159
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t... ORPHA:33402
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Failure to thrive, Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent ... OMIM:300400
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased circulating IgG level, Inflammation of the large intes... ORPHA:98813
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Hepatosplenomegal... OMIM:604416
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Diarrhea, Arthritis, Panhypogam... OMIM:601457
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Elevated circulating creatine kinase ... OMIM:201475
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Carcinoid Syndrome
Nausea and vomiting, Elevated hepatic transaminase, Asthma, Lack of bowel sounds, Hepatic necrosi... ORPHA:100093
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Abnormal blood ion concentration, Tub... ORPHA:37042
Immunodeficiency 56
Recurrent respiratory infections, Failure to thrive, Pneumocystis jirovecii pneumonia, Cholangiti... OMIM:615207
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Recurrent candid... ORPHA:169160
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... ORPHA:911
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Complete or near-complete absence of specif... OMIM:607271
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... ORPHA:67
Immunodeficiency With Hyper-Igm, Type 3
Increased circulating IgM level, Decreased circulating IgE, Neutropenia, Decreased circulating Ig... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent b... OMIM:607594
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, H... ORPHA:83471
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... OMIM:243150
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Hypertriglyceridemia, Rec... OMIM:619802
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasi... OMIM:226990
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Chronic gastritis, Increased circulating interleukin 6 concentr... OMIM:301074
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... ORPHA:540
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Immunodeficiency 52
Persistent CMV viremia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Persistent EBV viremia... OMIM:617514
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Resp... ORPHA:26790
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... ORPHA:178320
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:614069
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Sepsis, Recurrent cutaneous fungal infections, Increased circulating IgG level,... ORPHA:276
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Abnormal large int... ORPHA:2198
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr... OMIM:251880
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua... ORPHA:449280
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Elevated circulating C-reactive protein concentration, Bronchitis, Col... OMIM:619381
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... OMIM:616576
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu... ORPHA:90051
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Recurrent viral infections, Asthma, Atopic dermatitis, Hepatospl... OMIM:618999
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial in... OMIM:240500
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Abnormal blo... ORPHA:810
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Recurr... OMIM:616100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... OMIM:615947
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Abnormal circulating acylcarnitine concentration, Elevated hepatic transam... ORPHA:71212
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... ORPHA:264675
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Increased circulating IgM level, Recurrent bacterial infections... OMIM:605258
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... OMIM:617718
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... OMIM:615895
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decrease... OMIM:601495
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly, Recurren... OMIM:618935
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614576
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomegaly, Bronchiectasis, Increase... OMIM:619220
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Elevated circulating C-re... ORPHA:324964
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... OMIM:209950
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Respiratory tract infecti... ORPHA:2686
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumoni... OMIM:619652
Immunodeficiency 12
Skin rash, Recurrent viral infections, Esophageal stricture, Bronchiectasis, Cheilitis, Recurrent... OMIM:615468
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Persistent CM... OMIM:618495
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Omenn Syndrome
Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Diarrhea, Recurrent bacterial ... OMIM:603554
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Aspergillosis
Sinusitis, Cough, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiecta... ORPHA:1163
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, ... OMIM:620282
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Decreased ci... ORPHA:101330
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... ORPHA:70578
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Decreased circulating antibody level OMIM:615190
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... OMIM:613500
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... ORPHA:275
Graft Versus Host Disease
Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Recurrent skin infections, Parti... OMIM:301082
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... OMIM:194380
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Recur... OMIM:619573
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, I... OMIM:242860
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn... ORPHA:1572
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... OMIM:618282
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Microvesicular hepatic steatos... OMIM:618278
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Postinfectious Vasculitis
Anorexia, Elevated circulating C-reactive protein concentration, Severe varicella zoster infectio... ORPHA:48435
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Villous atrophy, Inflammatory abnormality of ... ORPHA:391487
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Celiac disease, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract ... OMIM:615952
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... ORPHA:572
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... ORPHA:36238
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomegaly, Decreased circulating antibody... OMIM:308240
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent abscess formation, Cough, Recurrent aspiration pneumonia, H... ORPHA:79124
Leigh Syndrome
Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Failure to thrive, Abnor... OMIM:256000
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circ... OMIM:612692
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Pneumonia, Increased circulating gua... OMIM:613179
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, A... ORPHA:171
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Recurrent upper respiratory tract infections, Chronic diarrhea... OMIM:600802
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... ORPHA:3243
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Hepatoblastoma, Small for gestational age, Splenomegaly... ORPHA:84064
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Vomiting, Pulmonary hypoplasia, Elevated circulatin... OMIM:231680
Primary Biliary Cholangitis
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Hepatitis, Biliary... ORPHA:186
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE ... OMIM:618523
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... OMIM:608957
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Jaundice, Sepsis, Meningitis ORPHA:464370
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnorma... ORPHA:158057
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s... ORPHA:2357
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnorma... ORPHA:3392
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent viral infections, Hepatomegaly, Chronic diarrhea, Decreased circulating IgG2... OMIM:102700
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Chronic diarrhea, Recurrent upper r... OMIM:602450
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614921
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Thymoma
Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Decreased circulating antibody level, ... ORPHA:99867
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... OMIM:256810
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Co... ORPHA:90038
Bloom Syndrome
Recurrent herpes, Poor appetite, Bronchitis, Severe varicella zoster infection, Uveitis, Gastroes... ORPHA:125
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis OMIM:238970
Agammaglobulinemia, X-Linked
Sepsis, Conjunctivitis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, I... OMIM:300755
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Respiratory di... ORPHA:26793
Melioidosis
Brain abscess, Unusual skin infection, Foot osteomyelitis, Liver abscess, Pneumonia, Lung abscess... ORPHA:31202
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, G... OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Enterocoliti... ORPHA:79259
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... OMIM:619445
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Immunodeficiency 64 With Lymphoproliferation
Failure to thrive, Increased circulating IgA level, Splenomegaly, Bronchiectasis, Recurrent infec... OMIM:618534
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Cystic Fibrosis
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... ORPHA:586
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Recurrent viral ... ORPHA:420741
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepatic failure,... ORPHA:292
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Sarcoidosis, Susceptibility To, 1
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland... OMIM:181000
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Abnormal circulating lipid concentration ORPHA:381
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Abdo... ORPHA:29207
Pgm3-Cdg
Recurrent viral infections, Sepsis, Increased circulating IgG level, High palate, Gastroesophagea... ORPHA:443811
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... OMIM:619468
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe... OMIM:615508
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic steatosis, Hepatic necrosis OMIM:231530
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Epistaxis, Increased circulating IgA level, Hematemesis, Diarrhea, Recu... OMIM:301000
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Recurrent sta... OMIM:615816
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Abnormal pattern of respir... ORPHA:90062
Legionnaires Disease
Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Infecti... ORPHA:549
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... OMIM:242700
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Cryptorchidism, Esophageal stricture, Chronic d... OMIM:617053
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... ORPHA:2032
Brucellosis
Liver abscess, Anorexia, Elevated circulating C-reactive protein concentration, Bronchitis, Knee ... ORPHA:1304
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Glomerulonephritis, Elevated circulating creatine kinase c... ORPHA:90068
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumon... OMIM:619057
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... OMIM:208085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Splenome... ORPHA:169090
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Diarrhea, C... ORPHA:411703
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Immunodeficiency 31C
Recurrent respiratory infections, Villous atrophy, Osteomyelitis, Hepatomegaly, Eczema, Cough, Sp... OMIM:614162
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain f... OMIM:609313
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Q Fever
Respiratory distress, Anorexia, Abnormality of the liver, Cholecystitis, Cough, Meningitis, Infec... ORPHA:781
Timothy Syndrome
Pneumonia, Bronchitis, Patent ductus arteriosus, Recurrent infections, Hypocalcemia, Pulmonary ar... OMIM:601005
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tract... OMIM:232240
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Hyperammonemia, Feeding difficulties, Respirato... OMIM:618253
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Pneumonia, Recurrent otitis media, Periodontitis OMIM:266265
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Chronic diarr... OMIM:616005
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Hepatomegaly,... ORPHA:3261
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B... OMIM:617092
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis, Chro... OMIM:308230
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Colitis, ... ORPHA:3260
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Pulmonary fibrosis, Cirrhosis, Oral leukoplakia OMIM:127550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Bronchitis, Lymphadenitis, Abnormality of the spleen,... ORPHA:2552
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... ORPHA:1018
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Hermansky-Pudlak Syndrome 1
Epistaxis, Abdominal pain, Hematochezia, Restrictive ventilatory defect, Inflammation of the larg... OMIM:203300
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Brain absces... ORPHA:228119
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Lichen Planopilaris
Hepatitis ORPHA:525
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Feeding diffi... ORPHA:79243
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... ORPHA:169105
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun... ORPHA:31204
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Chroni... OMIM:203800
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o... ORPHA:91138
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Shwachman-Diamond Syndrome
Sinusitis, Decreased response to growth hormone stimulation test, Recurrent viral infections, Sep... ORPHA:811
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of prop... OMIM:215600
Wilson Disease
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Gastroesophageal reflux, Vomiting, Cough, Hepatomegaly, Atelectasis, Chronic diarrhea, ... OMIM:620233
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Feeding difficulties, Recurrent infections, Hepatospl... ORPHA:541423
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... OMIM:616037
Plague
Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infect... ORPHA:707
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyperkeratosis,... OMIM:616295
Immunodeficiency 77
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... OMIM:619223
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ... OMIM:269200
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Elevated circulating C-reactive protein concentration, Pul... ORPHA:70591
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... ORPHA:228426
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Isolated Sedoheptulokinase Deficiency
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension ORPHA:440713
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Acrokeratosis Verruciformis Of Hopf
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis ORPHA:79151
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Hyponatremia, Adrenal hyperplasia, Pneumonia, Jaundice, Hyperkalemia, Vomiting, ... ORPHA:90790
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Bowel urgency, Poor appetite, Anorexia, Elevated circulating growth horm... ORPHA:97287
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circul... OMIM:615846
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... ORPHA:2590
Immunodeficiency 13
Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiect... OMIM:615518
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... ORPHA:415
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Omenn Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Chronic diarrhea, Sepsis, Thyroiditis, Erythroderma, Failu... ORPHA:39041
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abn... OMIM:612387
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Intrahepatic cholestasis, High palate, Hyperbilirub... OMIM:606812
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Enlarged ovaries, Skin rash, Pneumonia, Abnormality of ... ORPHA:2298
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytok... ORPHA:158048
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Hashimoto thyroiditis OMIM:613385
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased ... ORPHA:431361
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... OMIM:242900
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Esophageal Atresia
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... ORPHA:1199
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Eczema, Epistax... ORPHA:906
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Recurrent infections, Macroglossia, Recurrent gastroenteritis ORPHA:309288
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Sepsis, Vomiting, Protein-losing enteropathy, Hypocalcemi... OMIM:619991
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Dominant Beta-Thalassemia
Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly, Chronic hepa... ORPHA:231226
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Ele... ORPHA:247691
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Myasthenia Gravis
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis ORPHA:589
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Hyposerinemia, Esophagitis, Feeding difficulties ORPHA:79350
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... OMIM:619351
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... ORPHA:90291
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Rec... ORPHA:293978
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia, Hashimoto thyroiditis ORPHA:199299
Vulvovaginal Gingival Syndrome
Parakeratosis, Abnormality of tumor necrosis factor secretion ORPHA:83453
Felty Syndrome
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Psoriasiform dermatitis, Neonatal respiratory distress, Recur... ORPHA:221139
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Biliary cirrhosi... ORPHA:227990
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Feeding difficulties, Stridor, Gastroesophageal reflux,... OMIM:230900
Listeriosis
Respiratory distress, Liver abscess, Sepsis, Conjunctivitis, Cholecystitis, Vomiting, Meningitis,... ORPHA:533
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Neutropenia, Anemia OMIM:617303
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Biliary cirrhosi... ORPHA:227982
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Epistaxis ORPHA:331
Cholera
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Abnormal blood ion concentration... ORPHA:173
Mccune-Albright Syndrome
Hepatocellular adenoma, Hepatitis, Cholestasis, Hypophosphatemia, Pancreatitis ORPHA:562
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Hypok... ORPHA:330021
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... OMIM:131100
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... ORPHA:94093
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... ORPHA:509
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Tube feeding ORPHA:79264
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Feeding difficulties, H... ORPHA:354
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... OMIM:158310
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Neutropenia OMIM:604173
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Meningitis, Pe... ORPHA:1546
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis ORPHA:91139
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... ORPHA:314655
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Anal stenosis, Dysgammaglobulinemia, Diarrhea, Rec... OMIM:251260
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... ORPHA:2538
Degcags Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Hepatomegaly, Hiatus hernia, Cry... OMIM:619488
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon, Sepsis OMIM:619362
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, T lymphocytopenia, Leukopenia, Neutropenia, Decreas... OMIM:242840
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidism, Clef... OMIM:617137
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... ORPHA:436252
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a... OMIM:603467
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... ORPHA:542323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:99226
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Darier-White Disease
Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Feeding difficulties, Hyposerinemia, Gastroesophageal reflux, Vomiting, Esophagit... ORPHA:79351
Gaucher Disease
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:355
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Chops Syndrome
Gastroparesis, High, narrow palate, Patent ductus arteriosus, Splenomegaly, Cryptorchidism, Obesi... OMIM:616368
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie... ORPHA:99921
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Acantholysis OMIM:605676
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se... ORPHA:95455
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Chronic constipation, Hi... OMIM:300472
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Gast... ORPHA:93932
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Anemia, Neutropenia ORPHA:33364
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia ORPHA:1867
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Hypercalcemia, Pituitary corticotropic cell adenoma, Pituitary... ORPHA:276152
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Hepatosplenomegaly, Aspiration pneumonia, Dysphagia, Gastros... ORPHA:845
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Poor appetite, Hypercapnia, Respiratory insufficiency due to mu... ORPHA:2020
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227646
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia, Feeding difficulties ORPHA:95232
Cohen Syndrome
Neutropenia ORPHA:193
Hennekam-Beemer Syndrome
Pneumonia, Abdominal pain, Respiratory insufficiency, High palate, Vomiting, Failure to thrive ORPHA:2135
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Abnormal helix morphology, Acantholysis ORPHA:158687
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis OMIM:609638
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... OMIM:619482
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon ORPHA:163746
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Anal stenosis, Elevated circulating alpha-fetoprotein conce... ORPHA:280633
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Elevated circulating C-reactiv... ORPHA:319213
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Decreased circulating antibody level ORPHA:175
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Warty Dyskeratoma
Acantholysis ORPHA:69745
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Malabsorption, Respiratory tract infection, Spl... ORPHA:581
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Pyloric stenosis, Patent ductus arteriosus, Recurrent upper resp... OMIM:602535
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac... ORPHA:397715
Mowat-Wilson Syndrome
Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Pulmonary arter... ORPHA:2152
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastroesophageal reflux, Hepatic hemangioma, Dysphag... ORPHA:73230
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Occipital Horn Syndrome
Cholestasis, Jaundice, Hepatitis, Esophagitis ORPHA:198
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Cornelia De Lange Syndrome 1
Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cryptorchi... OMIM:122470
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Intestinal malrotation, Patent ductus arteriosus, Pulmonar... OMIM:600001
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract inf... ORPHA:68
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Failure to thrive, Aspiration pneumonia, Feeding difficulties OMIM:616430
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pneumonia, Recurrent infections, Hepatosplenomegaly, Macroglo... ORPHA:309282
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Macroglossia... OMIM:253200
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Constipation, Aspiration pneumonia ORPHA:35069
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto... ORPHA:699
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353281
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Orofaciodigital Syndrome Ix
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:258865
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Aspiration pneumonia, Feeding difficulties OMIM:619167
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis, Acantholysis ORPHA:36426
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:93924
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir... OMIM:301072
Opitz Gbbb Syndrome
Enlarged ovaries, Feeding difficulties in infancy, Cryptorchidism, Patent ductus arteriosus, Trac... ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353277
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Malnutrition, Constipation, Aspiration pneumonia, Dysphagia ORPHA:99027
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Cleft palate, Failure to thrive, Recurrent aspiration pneumonia, Duodenal atresia OMIM:247200
Coffin-Siris Syndrome
Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Feeding d... ORPHA:1465
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Macroglossia, Aspiration pneumonia, Feeding difficulties ORPHA:79255
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona... OMIM:616268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Asthma, Obesity,... ORPHA:444077
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Vomiting, Diarrhea ORPHA:454831
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypertriglyceridemia, Small for gestational age, Pneumonia, Cry... OMIM:264090
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Niemann-Pick Disease Type C
Hepatomegaly, Splenomegaly, Jaundice, Abnormal lung morphology, Respiratory insufficiency, Feedin... ORPHA:646
Kabuki Syndrome 1
Anal stenosis, Intestinal malrotation, Malabsorption, Feeding difficulties in infancy, Cryptorchi... OMIM:147920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Cryptorchidism, Patent duc... ORPHA:438213
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Glomerulonephritis, Portal hyp... ORPHA:64
Fontaine Progeroid Syndrome
Absent nipple, Small for gestational age, Protruding tongue, High, narrow palate, Patent ductus a... OMIM:612289
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Submucous cleft hard p... ORPHA:1662
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Feeding difficulties, Recurrent Staphylococcus aureus infections, Aplas... ORPHA:642
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Elevated circulating growth ho... ORPHA:79318
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Cleft palate, Narrow palate, Feeding difficulties, Hig... ORPHA:79500
Yunis-Varon Syndrome
Absent nipple, Small for gestational age, Failure to thrive in infancy, Pyloric stenosis, Cryptor... OMIM:216340

Histopathology

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

There is no histopathology data for Il22

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Il22.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Group 3 innate lymphocytes make a distinct contribution to type 17 immunity in bladder defence. iScience (June 2022) Il22ra1tm1a(EUCOMM)Wtsi PMC9283510
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Il22tm1Jcrd Il22ra1tm1a(EUCOMM)Wtsi PMC7263671
Acetate coordinates neutrophil and ILC3 responses against C. difficile through FFAR2. The Journal of experimental medicine (March 2020) Il22ra2tm2c(EUCOMM)Wtsi Il22ra2tm2a(EUCOMM)Wtsi Il22ra2tm2b(EUCOMM)Wtsi 31876919
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Il22ra1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Il22ra1tm1a(EUCOMM)Wtsi PMC6459510
Interleukin-22 protects intestinal stem cells against genotoxic stress. Nature (January 2019) Il22ra1tm1a(EUCOMM)Wtsi PMC6420091
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Il22ra1tm1a(EUCOMM)Wtsi Il22ra1tm1a(EUCOMM)Wtsi PMC5827107
IL-22 regulates lymphoid chemokine production and assembly of tertiary lymphoid organs. Proceedings of the National Academy of Sciences of the United States of America (August 2015) Il22ra1tm1a(EUCOMM)Wtsi PMC4568258
Epithelial IL-22RA1-mediated fucosylation promotes intestinal colonization resistance to an opportunistic pathogen. Cell host & microbe (September 2014) Il22ra1tm1a(EUCOMM)Wtsi PMC4190086
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Il22ra1tm1a(EUCOMM)Wtsi PMC3996542
HVEM signalling at mucosal barriers provides host defence against pathogenic bacteria. Nature (August 2012) Il22ra1tm1a(EUCOMM)Wtsi PMC3477500

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Il22em1(IMPC)Mbp Intra-exon deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter