Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
embryonal Fyn-associated substrate
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Efs 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 Efs by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency 95
Respiratory distress, Increased circulating IgG3 level, Recurrent viral upper respiratory tract i... OMIM:619773
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Asthma, Reduced circulating interleukin 27 concentration, Increased circulating ... OMIM:619632
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level, Hematuria OMIM:314000
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Recurrent bronchitis OMIM:216950
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Pneumonia OMIM:312863
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Pneumonia,... OMIM:269840
Secretory Component Deficiency
Intermittent diarrhea, Secretory IgA deficiency, Chronic intestinal candidiasis OMIM:269650
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Recurrent skin infections, Splenomegaly, Inflammation of the... OMIM:300635
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema, Asthma OMIM:147050
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Increased circulating IgG level, Recurrent lower respiratory tract infe... OMIM:619220
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent otiti... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Decreased circulating IgE, Decreased c... OMIM:308230
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Complement Component C1S Deficiency
Hepatitis, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:607594
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ... OMIM:614379
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:613500
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... OMIM:300400
Immunodeficiency 50
Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respi... OMIM:300988
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... OMIM:615207
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respiratory... OMIM:613501
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency 61
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... OMIM:300310
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recurrent urinary tract... OMIM:618495
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... OMIM:609529
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract... OMIM:137100
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent ... OMIM:209920
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atop... OMIM:243700
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections OMIM:613495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating antibody level, Pneumonia OMIM:614069
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... OMIM:619281
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... OMIM:616100
Immunodeficiency 27A
Splenomegaly, Anorexia, Hepatosplenomegaly, Diarrhea, Increased circulating IgG level, Abnormal b... OMIM:209950
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, F... ORPHA:2137
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Diarrhea, Arthritis, Panhypogammaglobulinemia, Pneumonia, Conjun... OMIM:601457
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Proteinuria, Abnormal lung morpho... ORPHA:91139
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent skin infections, Diarrhea, Chronic ... ORPHA:33110
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Iga Pemphigus
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... ORPHA:555905
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Increased circulating IgA level, Nephritis, Hepatomegaly, Splenomegaly, Incre... OMIM:603909
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira... ORPHA:277
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, ... OMIM:178500
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 15B
Agammaglobulinemia, Respiratory tract infection, Decreased circulating antibody level, Chronic di... OMIM:615592
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... OMIM:618048
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Arthritis, ... ORPHA:343
Immunodeficiency 44
Decreased circulating IgA level, Elevated circulating alanine aminotransferase concentration, Dec... OMIM:616636
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Dec... OMIM:601859
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Primary Biliary Cholangitis
Increased circulating IgA level, Abdominal distention, Elevated circulating alkaline phosphatase ... ORPHA:186
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis OMIM:219400
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... ORPHA:217390
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Feeding difficulties, Recurrent skin infections, Recurrent lower... OMIM:617744
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Uve... OMIM:617388
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Chronic lung disease, Inflammation of the large intestine, Decrea... OMIM:618108
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re... OMIM:615139
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Diarrhea, Chronic muco... OMIM:608971
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infectio... OMIM:619752
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Boutonneuse Fever
Skin rash, Abdominal pain, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, El... ORPHA:83313
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgM l... OMIM:617099
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Tube feeding, D... OMIM:619510
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... ORPHA:859
Pgm3-Cdg
Eczema, Chronic sinusitis, Bone marrow hypocellularity, Lactose intolerance, Osteomyelitis, Incre... ORPHA:443811
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections OMIM:615214
Immunodeficiency, Common Variable, 10
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia lambli... OMIM:615577
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... ORPHA:1163
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:619824
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Recurrent sinusitis, Decreased circulat... OMIM:616576
Sodium-Dependent Multivitamin Transporter Deficiency
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... OMIM:619924
Hyper-Igd Syndrome
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Abdominal pain, Splenomegal... OMIM:260920
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Decreased CD69 upregulation ... OMIM:300853
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Celiac disease, Thyroiditis OMIM:618985
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Abdominal pain, Maculopapular exanthema, Diarrhea, ... ORPHA:319218
Idiopathic Achalasia
Gastroesophageal reflux, Cough, Wheezing, Recurrent aspiration pneumonia, Bronchitis, Malnutritio... ORPHA:930
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increased circulatin... OMIM:618523
X-Linked Lymphoproliferative Disease
Hepatic failure, Myocarditis, Increased proportion of CD25+ mast cells, Pulmonary granulomatosis,... ORPHA:2442
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Feeding difficulties, Eczema, Reduced delayed hypersensitivity, Increas... OMIM:617241
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Pustule, Skin rash, Increased circulating IgG level, Myositis, T... OMIM:615934
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Abdominal pain, Complement deficiency, Increased ci... ORPHA:449400
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Chronic otitis media, Arthritis, Hepatitis, A... ORPHA:47
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... ORPHA:90003
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ... ORPHA:48435
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreased circu... OMIM:300755
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:572
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Decreased circulating IgA level, Recurrent upper and lower respiratory... ORPHA:275
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Absent isohemagglutinin l... OMIM:615559
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Melena, Recurrent otitis media, Increased ... OMIM:301000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Splenomegaly, Respiratory tract infection, Recurrent otitis media ORPHA:444463
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Decreased serum complement C4, L... ORPHA:449395
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... ORPHA:2571
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis... OMIM:619705
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tra... OMIM:608184
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Thrombocytopenia 1
Epistaxis, Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Complement Factor I Deficiency
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... OMIM:610984
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A... ORPHA:90280
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Villous atrophy, Chronic diarrhea, Eryth... OMIM:304790
Angiostrongyliasis
Constipation, Increased circulating IgA level, Abdominal pain, Projectile vomiting, Increased cir... ORPHA:74
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level, Recurrent respiratory infections OMIM:241600
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatomegaly, Hepatic failure, Splenomegaly, Fulminant hepatitis... OMIM:308240
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Diarrhea, Recurrent urinary tract infect... OMIM:307200
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Bone marrow hypocellularity, Increased circulati... ORPHA:3261
Immunodeficiency 58
Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit... OMIM:618131
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Respiratory distress, Gastritis, Eczema, Vomiting, Pneumonia, Malabsor... ORPHA:37042
Legionnaires Disease
Pancreatitis, Diarrhea, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone mar... ORPHA:549
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ile... OMIM:243150
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Nephropathy, Increased circula... ORPHA:29073
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failu... OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Abnormal... OMIM:613101
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Decreased circulating Ig... OMIM:614700
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Hepatomegaly, Nephritis, Elevated circulating ... OMIM:614034
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cutaneo... OMIM:147060
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation OMIM:614493
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... OMIM:612444
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Feeding difficulties, Aspiration pneumonia, Nasogastric tube feeding in inf... ORPHA:141152
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased circu... OMIM:614328
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Cryoglobulinemic Vasculitis
Viral hepatitis, Circulating immune complexes, Abdominal pain, Hepatomegaly, Splenomegaly, Cryogl... ORPHA:91138
Immunodeficiency 52
Splenomegaly, Chronic lung disease, Decreased circulating antibody level, Recurrent pneumonia, Br... OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, Malabsorption, Chronic bronchitis, Diarrhea, Increase... OMIM:242860
Immunodeficiency 46
Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrhea, Recurrent sinop... OMIM:616740
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... ORPHA:411696
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, P... ORPHA:781
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Recurrent upper r... OMIM:616005
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Cystic Fibrosis
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody le... ORPHA:586
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocardi... ORPHA:139402
Myeloma, Multiple
Paraproteinemia OMIM:254500
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Panc... OMIM:618213
Adult-Onset Still Disease
Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic t... ORPHA:829
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:331206
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Tempi Syndrome
Abnormality of the pulmonary vasculature, Abnormality of the kidney, Increased circulating IgG le... ORPHA:284227
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin... OMIM:619802
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammatio... OMIM:608809
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Xq28 (MECP2) duplication
Decreased circulating IgA level, Constipation, Gastroesophageal reflux, Feeding difficulties in i... DECIPHER:45
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 23
Asthma, Eczema, Membranoproliferative glomerulonephritis, Increased circulating IgG level, Esopha... OMIM:615816
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Pyloric stenosis, Hepatitis, Decreased circulating antibody level, Bo... ORPHA:381
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Arthritis, Increased circulating IgM level ORPHA:37748
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Macronod... OMIM:215250
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Avian Influenza
Respiratory distress, Diarrhea, Vomiting, Pneumonia, Hypoxemia, Respiratory failure, Myelitis, In... ORPHA:454836
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Hepatom... OMIM:102700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... OMIM:611926
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Common Variable Immunodeficiency
Anal atresia, Otitis media, Gastrointestinal stroma tumor, Splenomegaly, Chronic otitis media, El... ORPHA:1572
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Gastroesophageal... OMIM:613385
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... ORPHA:331235
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Splenomegaly, Decreased circula... OMIM:619381
Peeling Skin Syndrome 1
Erythroderma, Asthma, Increased circulating IgE level OMIM:270300
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Desquamative interstitial pneumonitis, Eczema, Interstitial pn... OMIM:615952
Reticular Dysgenesis
Malabsorption, Skin rash, Diarrhea, Chronic otitis media, Decreased circulating antibody level, R... ORPHA:33355
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro... ORPHA:83471
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615285
Complement Factor B Deficiency
Peritonitis, Decreased serum complement factor B, Pneumonia OMIM:615561
Graft Versus Host Disease
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Elevated circulating alkaline ph... ORPHA:39812
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Nephritis, Increased circulating IgA level, Skin rash, Osteo... ORPHA:2298
Brucellosis
Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee oste... ORPHA:1304
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent pn... OMIM:601495
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Atopic dermatitis, Crackles, Abnormality of the gastrointestinal tra... ORPHA:2902
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon... ORPHA:31202
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615451
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Decreased serum complement C4, Diarrhea, Vomiting, Hematuria, Proteinuria, Da... ORPHA:93552
Netherton Syndrome
Asthma, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villous atrophy, ... OMIM:256500
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Anterior uveitis, Reversible renal failure, Uveitis, Gl... OMIM:607665
Netherton Syndrome
Asthma, Malabsorption, Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ec... ORPHA:634
Trichothiodystrophy 3, Photosensitive
Pyloric stenosis, Meckel diverticulum, Increased circulating IgA level, Feeding difficulties OMIM:616395
Rift Valley Fever
Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Hematuria, Elevated he... ORPHA:319251
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Pulmonary embolism, Vomiting, Intestinal o... OMIM:226300
Liver Failure, Infantile, Transient
Abdominal distention, Decreased circulating IgG level, Hepatomegaly, Acute hepatic failure, Micro... OMIM:613070
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Complement defic... ORPHA:449432
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Cirrhosis, Diarrh... OMIM:607765
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Hepatosplenomegaly, Reduc... OMIM:242700
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Splenomegaly OMIM:183350
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Microlissencephaly
Pneumonia ORPHA:1083
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glo... OMIM:619858
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Splenomegaly, Eczema, Lymphadenitis, Hepatosplenomegaly, Acu... OMIM:618935
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczema, Decreased circulating antibody level, Recurrent respiratory ... OMIM:618116
African Iron Overload
Abnormal pancreas morphology, Viral hepatitis, Hepatomegaly, Micronodular cirrhosis, Peritonitis,... ORPHA:139507
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Recurrent respiratory infections ORPHA:363523
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... OMIM:615294
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Nausea, Hashim... OMIM:618549
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... ORPHA:79303
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Abnormal pulmonary interstitial morphology, Hepa... ORPHA:227990
Cystic Echinococcosis
Increased circulating antibody level, Abdominal symptom, Cholestatic liver disease, Elevated circ... ORPHA:400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Sec... OMIM:600351
Systemic Lupus Erythematosus
Nephritis, Arthritis, Pleuritis, Lupus nephritis, Malar rash, Pericarditis OMIM:152700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormality of the urinary system, Respiratory failure requiring assisted v... ORPHA:90117
Cholesterol Pneumonia
Cough, Pneumonia, Tachypnea OMIM:215030
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615504
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I... ORPHA:449427
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Prolidase Deficiency
Increased circulating antibody level, Asthma, Hepatomegaly, Splenomegaly, Eczema, Elevated circul... OMIM:170100
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenom... OMIM:617303
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Decreased lymphocyte apoptosis,... OMIM:614470
Lassa Fever
Jaundice, Abdominal pain, Diarrhea, Cough, Oliguria, Increased circulating IgM level, Dysphagia, ... ORPHA:99824
Bacterial Toxic-Shock Syndrome
Respiratory distress, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis... ORPHA:36234
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Otitis media, D... ORPHA:420741
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Villous atrophy, ... OMIM:614602
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormal... ORPHA:2552
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... OMIM:608644
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Constipation, Decreased circulating IgG level, Feeding difficult... OMIM:617062
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Eczema, Vomiting, Decreased circulating antibody level, Recurrent pneumonia, Septic arthritis OMIM:617780
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Aminoacidu... OMIM:613404
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Otitis media, Splenomegaly, Recurrent upper respiratory tract infections, Panhypoga... OMIM:602450
Cleft Velum
Nasal regurgitation, Aspiration pneumonia, Poor suck, Recurrent otitis media, Oral-pharyngeal dys... ORPHA:99772
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Abnormal pulmonary interstitial morphology, Hepa... ORPHA:227982
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Pneumonia, Lymphadenitis ORPHA:319552
Wilson Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Arthritis, Elevated hepatic transam... ORPHA:905
Lambert Syndrome
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Decreased circulating antibody level, Jau... ORPHA:1296
Lymphangiectasia, Intestinal
Malabsorption, Decreased circulating IgG level, Intestinal lymphangiectasia OMIM:152800
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection ORPHA:2688
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Myositis, Increased circulating IgG4 level, Tubuloin... ORPHA:79078
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Recurrent urinary tract infections, Cough, Dyspha... ORPHA:169105
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophageal stenosis OMIM:615190
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... ORPHA:289390
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Esophagitis, Pneumonia, Upp... ORPHA:3348
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Splenomegaly, Hepatosple... OMIM:615122
Myh9-Related Disease
Nephritis, Nephropathy, Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal in... ORPHA:182050
Kimura Disease
Increased circulating IgE level ORPHA:482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Thyroiditis, Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Hepatosplenom... ORPHA:391487
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased circu... OMIM:618042
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Pulmonary fibrosis, Recurrent respiratory infections, He... ORPHA:79124
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615505
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... ORPHA:73263
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Elevated hepatic tran... ORPHA:507
Isolated Agammaglobulinemia
Sinusitis, Malabsorption, Skin rash, Otitis media, Diarrhea, Arthritis, Pneumonia, Inflammatory a... ORPHA:229717
Nephronophthisis-Like Nephropathy 2
Polyuria, Cough, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, Bronch... OMIM:619468
Alport Syndrome
Glomerular C3 deposition, Vomiting, Hematuria, Thickened glomerular basement membrane, Proteinuri... ORPHA:63
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:251190
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Reduced vital capacity, Feeding difficulties, Respiratory insufficiency ... ORPHA:171442
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, Dy... ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... OMIM:614576
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Bloody diarrhea, Nephrotic syndrome, Hepatomegaly, Hemateme... OMIM:615846
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Abnormal jejunum morphology, Pleural empyema, E... ORPHA:449280
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Coccidioidomycosis
Respiratory distress, Pancreatitis, Pneumonia, Pericarditis, Osteomyelitis, Peritonitis, Increase... ORPHA:228123
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Otitis media, Splenomegaly,... OMIM:613179
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Infectious encephalitis, Incre... ORPHA:448237
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... OMIM:619445
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato... OMIM:612649
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin... OMIM:611182
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Porphyrinuria, Viral hepatitis, Periportal fibrosis, Abnorma... ORPHA:101330
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Hepatomegaly, Skin rash, Splenomegaly, Myositis,... OMIM:617591
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Immunodeficiency 17
Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, C... OMIM:615607
Immunodeficiency 59 And Hypoglycemia
Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa... OMIM:233600
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 67
Increased circulating IgE level, Liver abscess OMIM:607676
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Pyelonephritis, Reduced xanthine dehydrogenase level, Xanthine nephr... OMIM:278300
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Retroperitoneal fi... ORPHA:64744
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, I... OMIM:208085
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Neuronal Intestinal Pseudoobstruction
Malabsorption, Decreased circulating antibody level ORPHA:99811
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... OMIM:300972
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615500
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Hepatitis ORPHA:848
Hereditary Folate Malabsorption
Cheilitis, Gastroesophageal reflux, Anorexia, Diarrhea, Recurrent urinary tract infections, Decre... ORPHA:90045
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased circulating anti... OMIM:619846
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce... OMIM:619374
Whim Syndrome
Sinusitis, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections, Severe peri... ORPHA:51636
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Malabsorption, Intestinal bleeding, Intussusception, Cirrhosis, ... ORPHA:90363
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... OMIM:612650
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent lower r... OMIM:619446
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Pneumonia, Decreased urine outpu... ORPHA:544482
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Recurrent respiratory infection... ORPHA:2585
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Recurren... OMIM:618282
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Otitis media, Neonatal respiratory distress, Wheezing, Cough, Chronic sinusit... OMIM:613807
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Feeding difficulties, Recurrent aspiration pneumonia, Intermittent diarr... OMIM:619971
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Otitis media, Stomach cancer, Uveitis, Pneumonia, Gastrosto... ORPHA:125
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... OMIM:612301
Immunodeficiency 75
Bronchiectasis, Hepatosplenomegaly, Recurrent respiratory infections OMIM:619126
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Abdominal ... ORPHA:90362
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:608647
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Nasogastric tube feeding, Neonatal respiratory distress OMIM:619057
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media OMIM:620032
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Unilateral renal atrophy, Nephritis, Renal dysplasia OMIM:314300
Relapsing Polychondritis
Keratitis, Hematuria, Myocarditis, Uveitis, Proteinuria, Anteriorly placed anus, Pericarditis, In... ORPHA:728
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Hepatomegaly, Uveitis, Increased circulating antibody level, Splenomegaly, Inflamm... OMIM:181000
Al Amyloidosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Renal interstitial amyloid... ORPHA:85443
Thymic Tumor
Cough, Dysgammaglobulinemia, Dysphagia, Dyspnea, Pericarditis ORPHA:100100
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Abnormal renal tubule morphology, Cholestasis, Hepatitis,... ORPHA:440713
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia ORPHA:464370
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transaminase, Tubulointerstitial nephri... OMIM:614817
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventilatory defect, P... OMIM:610910
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Stomatitis, Decreased circulating an... OMIM:613011
Thymoma
Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Myo... ORPHA:99867
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... OMIM:612387
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Recurrent urinary tract infections, Hematuria, Cough, Feeding difficulties ... ORPHA:1334
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab... OMIM:614017
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Decreased glomerular filtration rate, Posterior uveitis,... ORPHA:91500
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Recurrent ... OMIM:301078
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Neonatal respiratory distress, Cough, Wheezing, Chronic sinusitis, Recurrent ... OMIM:613808
Alstrom Syndrome
Asthma, Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Elevated hepatic transam... OMIM:203800
Alveolar Echinococcosis
Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function... ORPHA:284
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduc... OMIM:617091
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
X-Linked Centronuclear Myopathy
Respiratory distress, Poor suck, Respiratory failure requiring assisted ventilation, Feeding diff... ORPHA:596
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Erythroderma ORPHA:3162
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Immunodeficiency 62
Bronchiectasis OMIM:618459
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Tick-Borne Encephalitis
Anorexia, Myelitis, Vomiting, Increased circulating IgG level, Abnormality of serum cytokine leve... ORPHA:297
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Hypospadias OMIM:616910
Vici Syndrome
Decreased circulating IgG level, Renal tubular acidosis, Feeding difficulties, Feeding difficulti... ORPHA:1493
Lichen Planopilaris
Hepatitis, Abnormal intestine morphology ORPHA:525
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cirrh... ORPHA:77259
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Hemoperitoneum, Hepatic failure, Hemothorax, Diarrhea, Hematuria, Myocardit... ORPHA:99827
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre... OMIM:618699
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis OMIM:610247
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Abnormality of the kidney, Neoplasm of... ORPHA:449563
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hepatic failure, Myocarditis, Cholestasis, Hepatitis, Infectious... ORPHA:292
Alopecia Antibody Deficiency
Decreased circulating antibody level, Recurrent respiratory infections ORPHA:1006
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent respiratory infections OMIM:608957
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Episodic vomiting, Protein avoidance, Acute hepatitis OMIM:238970
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Vomiting, Myocarditis, Cho... ORPHA:810
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Hepatitis, Jaundice OMIM:194380
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Chronic lung disease, Hepatitis, Hypersplen... ORPHA:228426
Lead Poisoning
Abdominal cramps, Renal tubular dysfunction, Chronic kidney disease, Asthma, Constipation, Abdomi... ORPHA:330015
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Decreased circulating IgA level, Constipation, Hepatomegaly, Feeding difficulties, Splenom... OMIM:613327
Familial Mediterranean Fever
Crohn's disease, Nephrotic syndrome, Orchitis, Episodic abdominal pain, Abdominal pain, Hepatomeg... OMIM:249100
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Chronic otitis media, Cough, Increased circulating IgE level, R... ORPHA:2314
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rh... OMIM:618063
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG level, Hepatomegal... OMIM:212065
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level OMIM:616873
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level OMIM:618165
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Gas... ORPHA:79324
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steatorrhea, Eczema, Diarr... OMIM:212750
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Diarrh