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 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis OMIM:314000
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr... OMIM:619773
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Recurrent bronchitis... OMIM:216950
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent skin infections, Splenome... OMIM:300635
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower respiratory tract infections, I... OMIM:619220
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... OMIM:614699
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Hepatomegaly, Rec... OMIM:308230
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Co... OMIM:615401
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency 50
Recurrent respiratory infections, Decreased circulating antibody level, Eczematoid dermatitis, Re... OMIM:300988
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis OMIM:613783
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Mucoid diarrhea, Increased ... OMIM:615767
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... OMIM:615207
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract... OMIM:137100
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... OMIM:614379
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... OMIM:609529
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell function, Recurre... OMIM:240500
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell functi... OMIM:607594
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Splenomegaly, Lymphocytic i... OMIM:618495
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, R... OMIM:615513
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... OMIM:209920
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... OMIM:612783
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Recurrent sinusitis, Achalasia, Furuncle, Decrea... OMIM:618969
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Splenomegaly, C... OMIM:618394
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Masp2 Deficiency
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 27A
Pneumonia, Diarrhea, Hepatosplenomegaly, Splenomegaly, Increased inflammatory response, Salmonell... OMIM:209950
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly, Recurrent... OMIM:269840
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... OMIM:617006
Simple Cryoglobulinemia
Abnormality of the kidney, Nephrotic syndrome, Abdominal pain, Gastrointestinal hemorrhage, Parap... ORPHA:91139
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Nephrotic syndrome, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Mal... OMIM:603909
Autosomal Agammaglobulinemia
Bronchiectasis, Diarrhea, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Agammaglobulinemia,... ORPHA:33110
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... ORPHA:169154
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Nodular regenerati... OMIM:301082
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea... ORPHA:402823
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Mesangia... OMIM:613496
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... ORPHA:436159
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Neutrophilic infiltration of the skin, Skin rash, Increased circu... OMIM:618048
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG OMIM:613495
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Chronic si... ORPHA:397596
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjun... OMIM:601457
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Splenomegaly, Increased circulating IgA level, Hepatomegaly, In... OMIM:601859
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Eczematoid dermatitis, Recurrent o... OMIM:619774
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Decreased specific anti... ORPHA:70593
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Increased circulating IgA level, He... OMIM:617388
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhe... OMIM:614069
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea, Recurrent respiratory ... OMIM:614102
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level OMIM:242870
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Diarrhea, Renal insufficiency, Skin rash... ORPHA:83313
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Recurrent skin infections, Recurrent lower respiratory tract inf... OMIM:617744
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Vomiting, Eczematoid dermatitis, Decreased circulating IgA level... OMIM:619510
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Erythema nodosum, Panhypogammaglobulinemia OMIM:615214
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma... OMIM:608971
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Increased circulating IgE level, Recurrent bro... OMIM:616069
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Skin rash, Chronic diarrhea, Increased circulating IgA level, Abdominal pain, Panniculi... OMIM:617099
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Decreased circulati... ORPHA:859
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Pgm3-Cdg
Allergic rhinitis, Bone marrow hypocellularity, Recurrent pneumonia, Bronchiectasis, Atopic derma... ORPHA:443811
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent lower respi... OMIM:613501
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Immunodeficiency 52
Recurrent pneumonia, Decreased circulating IgA level, Splenomegaly, Defective T cell proliferatio... OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent bronchit... OMIM:300853
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Recurr... OMIM:618523
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Hyper-Igd Syndrome
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Skin rash, Splenomegaly, Elevated urine me... OMIM:260920
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... ORPHA:217390
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Recurrent sinusitis, Recurren... OMIM:616576
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 105
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Skin rash, ... OMIM:619924
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Celiac disease, Eczematoid dermatitis, Thyroiditis OMIM:618985
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Malabsorption, Skin rash... ORPHA:47
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, H... ORPHA:186
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Malar rash, Skin rash, Pustule, Myositis, Increased circulating IgA level, Increas... OMIM:615934
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Hypersplenism, Increased circulating antibody level, Increased c... ORPHA:3261
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr... OMIM:178500
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Immunodeficiency 15B
Decreased lymphocyte proliferation in response to mitogen, Chronic diarrhea, Agammaglobulinemia, ... OMIM:615592
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Increased circulating antibody level,... ORPHA:319218
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... ORPHA:90003
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Jaundice, Cirrhosis, Hepatomegaly... ORPHA:60
Immunodeficiency 112
Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Decreased circulating IgA lev... OMIM:620449
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Agammaglobulinemia, X-Linked
Recurrent otitis media, Prostatitis, Bronchiolitis obliterans, Recurrent lower respiratory tract ... OMIM:300755
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent upper respiratory tract infections, Nephrotic syndrome, Recurrent urinary tract infecti... OMIM:615559
X-Linked Immunoneurologic Disorder
Abnormal pleura morphology, Functional abnormality of the bladder, Decreased circulating IgG2 lev... ORPHA:2571
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormality of humoral immunity, Diarr... ORPHA:572
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu... OMIM:610984
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Respiratory tract infection, Hepatitis, Splenomegaly ORPHA:444463
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased... ORPHA:449395
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Recurrent upper respiratory tract infections, D... OMIM:301000
Angiostrongyliasis
Vomiting, Increased circulating specific IgE antibody, Nausea, Abdominal pain, Increased circulat... ORPHA:74
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level, Reduc... OMIM:615206
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Villous atrophy, Ileus, Erythr... OMIM:304790
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Decreased circulating total... OMIM:619705
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Malnutrition, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Bloody di... OMIM:243150
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase concentration... OMIM:614034
Multiple Myeloma
Nephropathy, Nephrotic syndrome, Acute kidney injury, Functional abnormality of the gastrointesti... ORPHA:29073
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 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis OMIM:313900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Recurrent urinar... OMIM:307200
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Hep... OMIM:226990
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Increased circul... ORPHA:90280
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Abnormal natural killer cell ph... OMIM:613101
Immunodeficiency 58
Allergic rhinitis, Esophagitis, Dysphagia, Recurrent cutaneous abscess formation, Chronic otitis ... OMIM:618131
Immunodeficiency 46
Chronic diarrhea, Recurrent sinopulmonary infections, Conjunctivitis, Decreased circulating antib... OMIM:616740
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatic failure, Decreased circulating antibody level, Splenomeg... OMIM:308240
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... OMIM:614700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eo... OMIM:618213
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis OMIM:614493
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte p... OMIM:600802
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Superficial ... OMIM:620632
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Increased circulating IgE level, Villous atrophy, Duodenitis, Pustule, Erythrode... OMIM:614328
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Gastrointestinal infarctions, Abnormality of the li... ORPHA:91138
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Protract... OMIM:615758
Legionnaires Disease
Bone marrow hypocellularity, Diarrhea, Hepatitis, Anorexia, Abnormal pleura morphology, Renal ins... ORPHA:549
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Diarrhea, Decreased circulating IgA level, Malabsorption, Chronic bronchitis, Sinusiti... OMIM:242860
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Splenomegaly, Hepatomegaly, ... OMIM:620210
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Xq28 (MECP2) duplication
Gastroesophageal reflux, Functional abnormality of the bladder, Decreased circulating IgA level, ... DECIPHER:45
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody level, Hepatom... ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Increased circulating antibody level, Hepatomegaly, Chronic diarrhea, Enlarged kidney OMIM:615285
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Acute kidney injury, Elevated circulating hepatic... ORPHA:542323
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Diarrhea, Increased circulating lactate dehydrogenase concentrat... OMIM:619802
Myeloma, Multiple
Paraproteinemia OMIM:254500
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Lymphadenitis, Decreased lymphocyte prolife... OMIM:618986
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu... OMIM:162000
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Eleva... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:616005
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:79124
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Increased circulating interleukin 10 concentratio... OMIM:613759
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice, Decreased circulati... ORPHA:381
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased circulating IgG level, Transudative pleural e... ORPHA:284227
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis m... OMIM:619381
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat... ORPHA:83471
Schnitzler Syndrome
Splenomegaly, Skin rash, Arthritis, Hepatomegaly, Increased circulating IgM level ORPHA:37748
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Neph... OMIM:215250
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Splenomegaly... OMIM:620603
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir... ORPHA:540
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... OMIM:618752
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Recurrent respiratory infections, Decreased circulating antibody lev... OMIM:618116
Reticular Dysgenesis
Diarrhea, Malabsorption, Skin rash, Recurrent respiratory infections, Decreased circulating antib... ORPHA:33355
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Decreased circulating IgA level, Hypersplenism, Portal hypert... OMIM:613385
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Chronic diarrhea, Recurren... OMIM:601495
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... OMIM:607765
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Hepatomegaly, Fee... OMIM:615010
Tularemia
Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased circulating an... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media OMIM:266265
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Meckel diverticulum, Feeding difficulties, Pyloric stenosis OMIM:616395
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormality of the spleen... ORPHA:31202
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Decreased circulating complement factor B concentration, Biliary cirrhosis,... ORPHA:2298
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Reduced delayed hypersensitivity, Emphysema, Pyoderma... OMIM:242700
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Recurrent aphth... OMIM:615468
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia... ORPHA:1304
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis OMIM:615561
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bronchitis, Cut... ORPHA:331235
Rift Valley Fever
Melena, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious... ORPHA:319251
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, A... ORPHA:141152
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Elevated circulating hepatic transaminase concentration, Abdomin... OMIM:613070
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu... ORPHA:723
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ... ORPHA:178320
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Netherton Syndrome
Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Malabsorption, ... ORPHA:634
Pediatric Systemic Lupus Erythematosus
Diarrhea, Dark urine, Hematuria, Decreased circulating complement C4 concentration, Abdominal dis... ORPHA:93552
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan... OMIM:615952
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227990
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Chronic mucocutan... OMIM:102700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Splenomegaly OMIM:183350
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Igg4-Related Submandibular Gland Disease
Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating ... ORPHA:449432
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... OMIM:256040
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Decreased lymphocyt... OMIM:606367
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infecti... ORPHA:1572
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pleuritis, Pericarditis OMIM:152700
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... OMIM:618261
Cystic Echinococcosis
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Peritoneal a... ORPHA:400
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat... OMIM:619858
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Splenomegaly, Increased circulating antibody level, Hepatomegal... OMIM:614470
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia OMIM:200900
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... OMIM:214950
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections ORPHA:2643
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirrhosis, He... ORPHA:227982
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Recurrent pneumonia, Nephritis, ... OMIM:617303
Gastroesophageal Reflux
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm OMIM:109350
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Giant cell hepatitis, Nephrocalcinosis, Aminoaciduria, Elevated circulating hepatic ... OMIM:613404
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Colitis, Esophageal stenosis OMIM:615190
Avian Influenza
Pneumonia, Myelitis, Acute kidney injury, Increased circulating lactate dehydrogenase concentrati... ORPHA:454836
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis ORPHA:85435
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly OMIM:607624
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Malabsorption, Intestinal lymphangiectasia OMIM:152800
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Bacterial Toxic-Shock Syndrome
Diarrhea, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, Renal ins... ORPHA:36234
Immunodeficiency 9
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... OMIM:612782
Lambert Syndrome
Cholestasis, Intrahepatic biliary atresia, Jaundice, Decreased circulating antibody level, Hyposp... ORPHA:1296
Alpha-Heavy Chain Disease
Malabsorption, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobulinemia, Hepatomeg... ORPHA:100025
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Recurrent upper respiratory tract infections, Inflammatory abnormality of t... ORPHA:391487
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Hepati... ORPHA:905
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoco... ORPHA:79078
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Decreased circul... OMIM:620321
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Nephrotic syndrome, Lymphad... ORPHA:911
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Increased circ... OMIM:602450
Primary Sjögren Syndrome
Arteritis, Xerostomia, Chronic hepatitis, Lymphocytic interstitial pneumonia, Increased circulati... ORPHA:289390
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... ORPHA:73263
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Abnormality of... ORPHA:2902
Lassa Fever
Diarrhea, Oliguria, Nausea and vomiting, Jaundice, Abdominal pain, Conjunctivitis, Increased circ... ORPHA:99824
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Recurrent otitis media, Decreased circulating antibody level, Hypospadias OMIM:616910
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Hepatosplenomegal... OMIM:615122
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased circulating anti... ORPHA:507
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Nephrotic syndrome, Diarrhea, Hepatitis, Hemato... OMIM:615846
Immunodeficiency 17
Anoperineal fistula, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent otitis ... OMIM:615607
Kimura Disease
Increased circulating IgE level ORPHA:482
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Enuresis nocturna, Diarrhea, Bro... ORPHA:420741
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie... ORPHA:182050
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Malabsorption, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory a... ORPHA:229717
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... OMIM:614576
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Hepatic failure, Increased circulating lactate de... ORPHA:158057
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat... OMIM:617780
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Good Syndrome
Diarrhea, Recurrent urinary tract infections, Recurrent skin infections, Sinusitis, Recurrent res... ORPHA:169105
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory... OMIM:613179
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl... OMIM:619468
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Respiratory tr... OMIM:619445
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Intraalveolar phospholipi... OMIM:618042
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Zika Virus Disease
Myelitis, Vomiting, Skin rash, Infectious encephalitis, Arthritis, Conjunctivitis, Maculopapular ... ORPHA:448237
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Malabsorption ORPHA:99811
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Aminoaciduria, Nephrocalcinosis, Elevated gamma-glutamyltransf... OMIM:208085
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Psoriasiform dermatitis, Malabsorption, Eosinophilic infiltratio... OMIM:615508
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Skin rash, Splenomegaly, Increased circu... OMIM:617591
Coccidioidomycosis
Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Abnormalit... ORPHA:228123
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level ORPHA:1310
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections, Decreased circulating anti... ORPHA:90045
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased circulating antibody level, Recurrent sinopulmonary ... OMIM:619846
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Protein avoidance, Episodic vomiting, Acute hepatitis, Ho... OMIM:238970
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Sclerosing cholangitis, Hashimoto thyroiditis, Pancreatic fibro... ORPHA:64744
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Hepatosplenomegaly, Bronchiectasis OMIM:619126
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Pulmonary cyst, Diarrhea, Increased circulating IgE level, Eosinophilic infiltrati... OMIM:147060
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent... ORPHA:69665
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Decreased circulating antibody level, Abnormal platelet functio... ORPHA:2585
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Functional abn... ORPHA:90362
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Abdominal colic, Volvulus, Decreased circulating IgG1 level, Decre... ORPHA:90363
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Immunodeficiency 81
Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee... OMIM:619971
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph... OMIM:104200
Aicardi-Goutieres Syndrome 5
Feeding difficulties in infancy, Chilblains, Increased circulating interferon-gamma concentration OMIM:612952
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepa... OMIM:614921
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Intestinal perforation, Pleural empyema, Abnormal circulating chemokine... ORPHA:544482
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Chronic bronch... OMIM:615482
Xanthinuria, Type I
Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithiasis, Reduced ... OMIM:278300
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Anorexia, Tubulointerstitial nephritis, Abdomina... ORPHA:91500
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy OMIM:314300
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir... OMIM:620376
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Adult-Onset Nemaline Myopathy
Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties ORPHA:171442
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... OMIM:613021
Chronic Mucocutaneous Candidiasis
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Feeding difficulties in infa... ORPHA:1334
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Gastroesophageal reflux, Otitis media, Nephroblastoma, Gas... ORPHA:125
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis ORPHA:848
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Abnormal renal morphology, Art... ORPHA:449280
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c... OMIM:615862
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Methylmalonic aciduria, Decreased circulatin... OMIM:275350
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice ORPHA:464370
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno... ORPHA:440713
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Pleural effusion, Splenomegaly, Hepatomegaly, Decreased circulat... OMIM:613011
Tick-Borne Encephalitis
Myelitis, Elevated circulating hepatic transaminase concentration, Vomiting, Abnormal circulating... ORPHA:297
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Sézary Syndrome
Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Hepatomegaly ORPHA:3162
Lichen Planopilaris
Abnormal intestine morphology, Hepatitis ORPHA:525
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Nasogastric tube feeding in infancy, Abnormality of the urinary system, Dysphagia, Aspiration pne... ORPHA:90117
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Decreased circulating complement C3 concentrat... OMIM:620514
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Recurrent otitis media, Recurrent a... OMIM:301078
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, D... ORPHA:221139
Congenital Disorder Of Glycosylation, Type Iib
Elevated circulating aspartate aminotransferase concentration, Decreased circulating IgA level, R... OMIM:606056
Al Amyloidosis
Nephrotic syndrome, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the li... ORPHA:85443
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Vici Syndrome
Decreased circulating IgG level, Renal tubular acidosis, Decreased circulating IgG2 level, Ureter... ORPHA:1493
Thymoma
Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Abnormal lymphocyte physiology, Myo... ORPHA:99867
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreased circulati... OMIM:613327
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteomyelitis, Skin rash, Re... ORPHA:2314
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Diarrhea, Eczematoid dermatitis, Celiac ... OMIM:212750
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Shigellosis
Urethritis, Cholestasis, Anorexia, Abdominal pain, Intestinal perforation, Bloody mucoid diarrhea... ORPHA:810
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit... ORPHA:728
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnorma... ORPHA:284
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Hemoglobinuria, Jaundice OMIM:194380
Igg4-Related Ophthalmic Disease
Thyroiditis, Keratitis, Colon cancer, Increased circulating IgE level, Increased circulating IgG4... ORPHA:449563
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Alg12-Cdg
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Gastroesophageal re... ORPHA:79324
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Gastros... ORPHA:228426
Familial Mediterranean Fever
Renal amyloidosis, Diarrhea, Erysipelas, Vomiting, Stage 5 chronic kidney disease, Pleural effusi... OMIM:249100
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Abnormality of T cell physiology, Pleural effusio... OMIM:181000
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hep... OMIM:212065
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cholestasis, Pleural effusion, Skin rash, Infectious encephalitis, My... ORPHA:292
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Nausea and vomiting, Hematuria, Erythema nodosum, Anorexia, Hepatome... ORPHA:99827
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia ORPHA:318
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti... OMIM:617092
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy... ORPHA:77259
Plasminogen Deficiency, Type I
Nephritis, Recurrent upper respiratory tract infections, Periodontitis, Nephrolithiasis, Conjunct... OMIM:217090
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Lead Poisoning
Chronic kidney disease, Abnormality of humoral immunity, Vomiting, Abdominal distention, Increase... ORPHA:330015
Combined Oxidative Phosphorylation Deficiency 51
Nasogastric tube feeding, Aspiration pneumonia OMIM:619057
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Atelis Syndrome 1
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Glue ear, Bron... OMIM:620184
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Cystic acne, Panniculitis, Acne inversa OMIM:608068
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Feeding difficulties in infancy, Poor suck ORPHA:596
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Hepatomegaly, Abnormal... OMIM:612387