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Gene: Cish MGI:103159

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Gene Summary

Name:
cytokine inducible SH2-containing protein
Synonyms:
CIS1,  Cis,  F23,  cytokine-inducible SH2 protein

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating chloride level Cishtm1a(KOMP)Wtsi HOM Early adult 6.02×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A homozygote 100% (2 of 2)
Aorta N/A homozygote Not available
Blood vessel N/A homozygote 100% (2 of 2)
Bone N/A homozygote 0.0% (0 of 2)
Brain N/A homozygote 100% (2 of 2)
Brainstem N/A homozygote Not available
Brown adipose tissue N/A homozygote 100% (2 of 2)
Cartilage tissue N/A homozygote 100% (2 of 2)
Cerebellum N/A homozygote Not available
Cerebral cortex N/A homozygote Not available
Eye N/A homozygote 100% (2 of 2)
Gall bladder N/A homozygote 100% (2 of 2)
Heart N/A homozygote 100% (2 of 2)
Hippocampus N/A homozygote Not available
Hypothalamus N/A homozygote Not available
Kidney N/A homozygote 100% (2 of 2)
Large intestine N/A homozygote 100% (2 of 2)
Liver N/A homozygote 100% (2 of 2)
Lower urinary tract N/A homozygote 100% (2 of 2)
Lung N/A homozygote 100% (2 of 2)
Lymph node N/A homozygote 100% (2 of 2)
Mammary gland N/A homozygote 50% (1 of 2)
Esophagus N/A homozygote 100% (2 of 2)
Olfactory lobe N/A homozygote Not available
Ovary N/A homozygote 50% (1 of 2)
Oviduct N/A homozygote 50% (1 of 2)
Pancreas N/A homozygote 100% (2 of 2)
Parathyroid gland N/A homozygote 100% (2 of 2)
Peripheral nervous system N/A homozygote 100% (2 of 2)
Peyer's patch N/A homozygote 100% (2 of 2)
Pituitary gland N/A homozygote 100% (2 of 2)
Prostate gland N/A homozygote 50% (1 of 2)
Skeletal muscle tissue N/A homozygote 100% (2 of 2)
Skin N/A homozygote 100% (2 of 2)
Small intestine N/A homozygote 100% (2 of 2)
Spinal cord N/A homozygote 100% (2 of 2)
Spleen N/A homozygote 100% (2 of 2)
Stomach N/A homozygote 100% (2 of 2)
Striatum N/A homozygote Not available
Testis N/A homozygote 50% (1 of 2)
Thymus N/A homozygote 100% (2 of 2)
Thyroid gland N/A homozygote 100% (2 of 2)
Trachea N/A homozygote 100% (2 of 2)
Uterus N/A homozygote 50% (1 of 2)
White adipose tissue N/A homozygote 50% (1 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Cishtm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Cishtm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Cishtm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Cishtm1a(KOMP)Wtsi
HOM, Female, WTSI
Cishtm1a(KOMP)Wtsi
body, HOM, Female, WTSI

View all 57 images

Cishtm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Cishtm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Cishtm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Cishtm1a(KOMP)Wtsi
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Human diseases caused by Cish 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 Cish by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... OMIM:618394
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Immunodeficiency 32B
Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ... OMIM:226990
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino... OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in response to m... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Immunodeficiency 51
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... OMIM:613953
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Abnormal natu... OMIM:613101
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt... ORPHA:60026
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Pancytopenia, A... ORPHA:79124
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Type I diabetes mellitus, Eczematoid dermatitis, Ex... OMIM:615952
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... OMIM:300400
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas... OMIM:617241
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ... ORPHA:133
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Abnormal pleura morphology, Arthritis, Eosinophilia ORPHA:2582
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti... OMIM:615518
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr... OMIM:178500
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... OMIM:612387
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Recurr... ORPHA:397596
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... OMIM:615387
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Bone marrow hypocellularity, A... OMIM:614742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hypogonad... ORPHA:353298
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia, Pulmonary fibrosis OMIM:620400
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary ... OMIM:607616
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr... OMIM:304790
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Immunodeficiency 27A
Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increa... OMIM:209950
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follicular hyperplasia, Pustule, M... OMIM:615934
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Hepatomega... OMIM:603554
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... OMIM:618944
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti... OMIM:618459
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv... OMIM:607115
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Pleural effus... ORPHA:2902
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia... OMIM:614743
Immunodeficiency 18
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Iron deficiency anemia OMIM:178550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp... ORPHA:486
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L... OMIM:616651
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th... ORPHA:277
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... OMIM:601457
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratitis, Keratoconjuncti... OMIM:617388
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 88
Eosinophilia OMIM:619630
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, Ab... ORPHA:400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Bone Marrow Failure Syndrome 5
Hypogonadism, Decreased circulating antibody level, Erythroid hypoplasia, Anemia, Pure red cell a... OMIM:618165
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hemophagocytosis, Pulmonary hemo... OMIM:619644
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoim... ORPHA:444463
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Hemolytic anemia, Leukopenia, Skin rash, Splenomegaly, Myositis, Hep... ORPHA:809
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Hypothy... OMIM:618999
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Bronchiolitis obliterans... OMIM:300755
Hereditary Folate Malabsorption
Pancytopenia, Decreased circulating antibody level, Eosinophilia, Megaloblastic anemia, Thrombocy... ORPHA:90045
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:620430
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... ORPHA:217390
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul... OMIM:620367
Isolated Agammaglobulinemia
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A... ORPHA:229717
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Bronchogenic cyst, Splenomegaly, Polycy... ORPHA:2969
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis ORPHA:3165
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... ORPHA:2585
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... OMIM:613494
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Neutrophilia, Hepatomegaly, Pulmonary f... OMIM:612852
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnor... OMIM:181000
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Abn... OMIM:301000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Pulmo... OMIM:617237
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Pulmonary fibrosis, Honeycomb lung OMIM:616371
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ... ORPHA:178320
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Diabetes... ORPHA:449280
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Pulmonary fibrosis, Delayed puberty, Erysipelas OMIM:615704
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade... ORPHA:100024
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eo... ORPHA:2314
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c... ORPHA:449400
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin... ORPHA:420741
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Leukoc... OMIM:618278
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... OMIM:193670
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ... OMIM:615122
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocyt... OMIM:620365
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect... OMIM:618042
Acute Generalized Exanthematous Pustulosis
Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic de... ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Respiratory trac... ORPHA:79128
Diffuse Alveolar Hemorrhage
Leukocytosis, Irregular septal thickening on pulmonary HRCT, Thrombocytopenia, Anemia, Pulmonary ... ORPHA:90060
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal eosinophil morphology ORPHA:724
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s... ORPHA:158061
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Superficial ... OMIM:620632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hyper... ORPHA:284
Common Variable Immunodeficiency
Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Abnormality of the liver, Recurrent bron... ORPHA:1572
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Reduce... OMIM:619281
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in re... OMIM:613179
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Chylothorax OMIM:619036
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Q Fever
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Ple... ORPHA:781
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase... ORPHA:37748
Coccidioidomycosis
Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Pleural empyema, Follicu... ORPHA:228123
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... ORPHA:77259
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... OMIM:616622
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis... ORPHA:449427
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Increase... ORPHA:449432
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Abnormal pleura morphology, Skin rash, Increased inflammatory response, Myositis... ORPHA:183
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitial nephritis,... ORPHA:227982
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Decreased circulating antibody level OMIM:617425
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Neutrop... OMIM:613989
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, De... OMIM:613011
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis, Goiter OMIM:617175
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Hypothyroidism, Abnorm... OMIM:619013
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Fusariosis
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple... ORPHA:228119
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti... OMIM:613990
Typhoid
Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Abnormal pulmonary interstitial m... ORPHA:99745
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Prolon... OMIM:607625
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... OMIM:610978
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... OMIM:242860
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Type I diabetes mellitus, Hemophago... OMIM:301078
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo... ORPHA:169105
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal nasal mucosa morphology, Ery... ORPHA:797
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop... OMIM:620514
Wells Syndrome
Eosinophilia ORPHA:901
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ... OMIM:603552
Primary Ciliary Dyskinesia
Nasal polyposis, Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Resp... ORPHA:244
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ... OMIM:620233
Igg4-Related Ophthalmic Disease
Thyroiditis, Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Sialad... ORPHA:449563
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Immunodeficiency 69
Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Thromb... OMIM:618963
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Incr... ORPHA:540
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Antisynthetase Syndrome
Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pulmonary inter... ORPHA:81
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... OMIM:612782
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:35078
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Dec... OMIM:307200
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ... OMIM:613490
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Abnormality of the lymphatic sys... ORPHA:2035
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Pulmonary fibrosis ORPHA:457240
Tafro Syndrome
Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Hepatomegaly, Anemia, ... ORPHA:457077
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Decr... ORPHA:83471
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma... OMIM:616414
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Interstitial Lung And Liver Disease
Hepatic fibrosis, Intraalveolar phospholipid accumulation, Cholestasis, Hepatic steatosis, Hepato... OMIM:615486
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin... ORPHA:3162
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit... OMIM:243150
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:508533
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia, P... OMIM:224230
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Hermansky-Pudlak Syndrome 4
Pulmonary fibrosis, Absent platelet dense granules OMIM:614073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... OMIM:158310
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon... ORPHA:723
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Chronic mucocu... ORPHA:572
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmo... OMIM:230800
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ... OMIM:601495
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I... ORPHA:289390
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
Loeffler Endocarditis
Eosinophilia, Left ventricular hypertrophy, Pericarditis ORPHA:75566
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatitis, Osteomyelitis, Pancytopenia, Leukopenia, Splenomeg... ORPHA:355
Autosomal Agammaglobulinemia
Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusit... ORPHA:33110
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis,... OMIM:244400
Heme Oxygenase 1 Deficiency
Nephritis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hepatomegaly, Coombs-positive h... OMIM:614034
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ataxia-Telangiectasia
Decreased circulating IgG level, Female hypogonadism, Defective B cell differentiation, Lymphopen... OMIM:208900
Polymyositis
Arthritis, Hepatomegaly, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pericard... ORPHA:732
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Melioidosis
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... ORPHA:98848
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Graves disease, Adreno... ORPHA:199299
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent re... OMIM:617050
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom... ORPHA:42642
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Pleural effusio... ORPHA:50918
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Recurrent intrapulmonary hemo... ORPHA:900
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Increased circulating procalcitonin concen... ORPHA:36238
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Streak ovary, Delayed puberty, Increased circulating gonadotropin leve... ORPHA:243
Braddock Syndrome
Pulmonary fibrosis ORPHA:52047
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... OMIM:620296
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Erdheim-Chester Disease
Diabetes insipidus, Osteomyelitis, Pleural effusion, Skin rash, Hypogonadotropic hypogonadism, An... ORPHA:35687
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... OMIM:619381
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Leukoc... ORPHA:829
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... ORPHA:238459
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Delayed puberty, ... ORPHA:77261
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Congenital h... ORPHA:209905
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Hepatomegal... OMIM:617591
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Eczematoid der... OMIM:147060
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Delayed puberty, Bronchiectasis, Decreased proportion of CD4-positive T cells ORPHA:477814
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi... OMIM:620321
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Increased circulating cortisol level, Increased circulating... ORPHA:97287
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... OMIM:620565
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Thymus hyperplasia, Diabetes insipidus, Abnormal lung lobation... ORPHA:744
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt... ORPHA:100026
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis ORPHA:79087
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract... ORPHA:60025
Atelis Syndrome 1
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl... OMIM:620184
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Splenomegaly, Increased circulating antibody level, C... OMIM:170100
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Al Amyloidosis
Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level, Hepatomegaly... ORPHA:85443
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia OMIM:612199
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron... ORPHA:169090
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy... ORPHA:79456
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a... ORPHA:906
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Severe B lymphocytopenia, Adre... ORPHA:293978
Incontinentia Pigmenti
Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Eosinophilia, H... OMIM:308300
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chron... OMIM:615505
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Bronchitis, Decreas... ORPHA:125
Overlap Myositis
Rheumatoid arthritis, Leukopenia, Thrombocytopenia, Arthritis, Abnormal pulmonary interstitial mo... ORPHA:206572
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Thromboc... OMIM:274000
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai... OMIM:620032
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Increased... OMIM:260920
Immunodeficiency 56
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron... OMIM:615207
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rhe... ORPHA:85414
Immunodeficiency 31C
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Decreased lymphocyte proliferation in r... OMIM:614162
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism,... OMIM:305000
Diffuse Cutaneous Systemic Sclerosis
Pulmonary fibrosis, Arthritis ORPHA:220393
Hermansky-Pudlak Syndrome 6
Recurrent upper respiratory tract infections, Impaired arachidonic acid-induced platelet aggregat... OMIM:614075
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou... ORPHA:29207
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C... OMIM:612649
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis... OMIM:612541
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron... OMIM:613193
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... OMIM:604571
Systemic Sclerosis
Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Arthritis, Myocarditis, Abnormal pu... ORPHA:90291
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenomegaly, In... ORPHA:549
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... ORPHA:391487
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... OMIM:613808
Hermansky-Pudlak Syndrome 1
Colitis, Inflammation of the large intestine, Pulmonary fibrosis OMIM:203300
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Abdominal situs ambiguus, Chronic sinusitis... OMIM:617092
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Recurrent pneumonia, Inflammation of the large intestine, Cervica... OMIM:617718
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiectasis, Chronic rhi... OMIM:618801
Incontinentia Pigmenti
Keratitis, Supernumerary nipple, Skin rash, Infectious encephalitis, Eosinophilia, Uveitis ORPHA:464
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Dermatomyositis
Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Lung adenocarcinoma, Myositis, Arthri... ORPHA:221
Chronic Granulomatous Disease
Abnormality of neutrophils, Eczematoid dermatitis, Otitis media, Splenomegaly, Hepatomegaly, Sinu... ORPHA:379
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious encephaliti... ORPHA:454836
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absen... OMIM:614935
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Hermansky-Pudlak Syndrome
Pulmonary fibrosis, Neutropenia ORPHA:79430
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... OMIM:614679
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... OMIM:306400
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Type II pneu... OMIM:263000
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronch... OMIM:608647
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Jaundice, Epididym... OMIM:620376
Autoimmune Hepatitis
Inflammation of the large intestine, Ascites, Splenomegaly, Sclerosing cholangitis, Increased cir... ORPHA:2137
Aicardi-Goutieres Syndrome 7
Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,... OMIM:615846
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... OMIM:607944
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec... OMIM:615504
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Respiratory tract infection, Skin rash, Infectiou... ORPHA:36234
Immune-Mediated Necrotizing Myopathy
Myositis, Abnormal pulmonary interstitial morphology, Skin rash, Myocarditis ORPHA:206569
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Ciliary Dyskinesia, Primary, 32
Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro... OMIM:616481
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... OMIM:612650
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome... OMIM:615688
Kawasaki Disease
Hepatitis, Conjunctivitis, Cervical lymphadenopathy, Thrombocytosis, Leukocytosis, Skin rash, Cho... ORPHA:2331
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abnormal circulating chemokine concentration, Septic arthritis, Brain abscess, Hemolyt... ORPHA:544482
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor... OMIM:617091
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respira... OMIM:616037
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Absent outer dynein arms OMIM:614017
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon... ORPHA:499009
Juvenile Dermatomyositis
Skin rash, Myositis, Arthritis, Pulmonary fibrosis, Pericarditis ORPHA:93672
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:221139
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Absen... OMIM:615444
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... OMIM:611884
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis ORPHA:85435
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Hepatomegaly ORPHA:330001
Syndromic Diarrhea
Hepatic fibrosis, Peripheral pulmonary artery stenosis, Panhypogammaglobulinemia, Lymphopenia, Ab... ORPHA:84064
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... ORPHA:2298
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, ... OMIM:617053
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Leukocytosis, Absc... ORPHA:810
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Tropical Endomyocardial Fibrosis
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Eosinophilia, Increased circulating interleuki... ORPHA:75565
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Yellow Nail Syndrome
Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Rhinitis, Sinusitis, Recurrent respirato... ORPHA:662
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Chronic sinusitis, Absent inner and outer dynein arms, Rhinitis, Chronic otitis m... OMIM:618063
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hypersplenism, Interstitial pneumonitis, Splenomegaly, Hepatomegaly, Neoplasm of ... ORPHA:77293
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Pleural effusion, Bronchiectasis, Lymphadenopathy ORPHA:411703
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... OMIM:266200
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Bronchiectasis, Otitis media, Sinusitis, Recurrent respiratory infections, Absen... OMIM:606763
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... OMIM:241200
Farber Disease
Hepatic fibrosis, Recurrent upper respiratory tract infections, Atelectasis, Ascites, Hepatosplen... ORPHA:333
Listeriosis
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulom... ORPHA:533
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... ORPHA:31204
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... OMIM:613021
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia, Pleural effusion, Recurrent skin in... ORPHA:90186
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Cryptococcosis
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Perit... ORPHA:1546
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia OMIM:620326
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural effusion, Peritonitis, En... ORPHA:73263
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ascites, Exocrine pancreati... ORPHA:1667
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Le... OMIM:603467
Timothy Syndrome
Pneumonia, Hypothyroidism, Cardiomegaly, Bronchitis OMIM:601005
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito... ORPHA:32960
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Abnormal pineal melatonin secretion, Ascites, Cho... ORPHA:69665
Familial Mediterranean Fever
Erysipelas, Pleural effusion, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis,... OMIM:249100
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon... ORPHA:199241
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Multiple Myeloma
Pleural effusion, Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increas... ORPHA:29073
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Decreased response to growth hormone stimulation test, Pancytope... ORPHA:1855
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ... ORPHA:99889
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia OMIM:230900
Viss Syndrome
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Emphysema, Increased circula... OMIM:619472
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Abnormality of the hepatic vasculature, Nodular regenerative hyperp... ORPHA:247691
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... OMIM:618699
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Pleural effusion, Leukocytosis, Pulmonary edema, Anemia, Glomerulonephritis, Thrombocy... ORPHA:340
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Defective production of NFKB1-dependent cytokines, Hepatomegaly, Recurrent respirat... OMIM:612132
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Autoimmune hemolytic anemia, D... OMIM:251260
Meconium Aspiration Syndrome
Pneumothorax, Maternal diabetes, Atelectasis, Aspiration pneumonia ORPHA:70588
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... ORPHA:96253
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease... OMIM:210900
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Nasal polyposis, Exocrine pancreatic insufficiency, Hepat... OMIM:219700
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Congenital pulmonary airway malformation, Hepatitis... ORPHA:436252
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Cholestasis, Pancytopenia, Ascites, Portal hypertension, Hepatic steatosis, Cirrhosis,... OMIM:613658
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Decreased testicular size, Cryptorchidism ORPHA:1867
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir... ORPHA:354
Alpha-1-Antitrypsin Deficiency
Hepatitis, Bronchitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, B... ORPHA:60
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Right ventricular hypertrophy OMIM:253700
Severe Acute Respiratory Syndrome
Diabetes mellitus, Acute infectious pneumonia ORPHA:140896
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating an... ORPHA:48435
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic biliary dysgenesis OMIM:214110
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Pulmonary hypoplasia OMIM:617022
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Cryptorchidism ORPHA:98905
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Recurrent pneumonia, Cholelithiasis, Parathyroid... OMIM:188400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... OMIM:618223
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic dermatitis, Throm... OMIM:301072
Chops Syndrome
Cryptorchidism, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... OMIM:619991
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Fasciitis, Ascites, Pancytopenia, Pleural effusion, Pneumothorax, K... ORPHA:99921
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Mucopolysaccharidosis, Type Vi
Pneumonia, Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly OMIM:253200
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Aspiration pneumonia ORPHA:79255
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Otitis media, Respiratory tract infecti... ORPHA:581
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Hepatom... ORPHA:707
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Hepatomegaly, Jaundice, Inflammatory abnormality of the skin ORPHA:26793
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... ORPHA:68
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperpl... ORPHA:90790
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Left ventricular hypertrophy, Aspiration pneumonia OMIM:619167
22Q11.2 Deletion Syndrome
Cholelithiasis, Atelectasis, Abnormal lung lobation, Impaired T cell function, Splenomegaly, Cryp... ORPHA:567
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, Seborrheic dermatitis, Hypochromic microcytic anemia ORPHA:96123
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Alpha-Mannosidosis, Infantile Form
Pneumonia, Hepatosplenomegaly, Pancytopenia, Otitis media ORPHA:309282
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Niemann-Pick Disease Type C
Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splen... ORPHA:646
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media, Cryptorchidism, Hypoplastic nipples, Thrombocytopenia, Duplication of in... OMIM:122470
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Anomalous origin of one pulmonary artery fro... ORPHA:3384
Degcags Syndrome
Pneumonia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Cryptorchidism, Hepatomegal... OMIM:619488
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia ORPHA:94093
Eec Syndrome
Keratitis, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Hypop... ORPHA:1896
Knobloch Syndrome 2
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:618458
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia, Bilateral cryptorchidism OMIM:300472
Geleophysic Dysplasia 3
Pneumonia, Hepatomegaly OMIM:617809
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ... OMIM:130050
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Combined Oxidative Phosphorylation Deficiency 25
Reduced circulating growth hormone concentration, Aspiration pneumonia OMIM:616430
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma ORPHA:73230
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Recurrent skin infections ORPHA:79404
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca... ORPHA:95455
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo... OMIM:233450
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Tay-Sachs Disease
Precocious puberty, Aspiration pneumonia ORPHA:845
Treacher-Collins Syndrome
Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Aspiration pneumonia, Cry... OMIM:602535
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Recurrent respiratory infections, Supernumerary nipple ORPHA:397715
Cholera
Aspiration pneumonia ORPHA:173
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:614748
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, Recurren... OMIM:264090
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Cryptorchidism, Hepatoblastom... ORPHA:1465
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection ORPHA:79138
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia, Cryptorchidism OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Blepharitis, Recurrent aspiration pneumonia, Hydrocele test... ORPHA:280633
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Enlarged ovaries, Thyroglossal cyst, Cryptorchidism ORPHA:2745
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorc... ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Septic arthritis, Recurrent aspiration ... ORPHA:642
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Otitis media, Cryptorchidism ORPHA:353281
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Aspiration pneumonia ORPHA:444077
Arboleda-Tham Syndrome
Recurrent respiratory infections, Bilateral cryptorchidism, Recurrent otitis media, Conjunctiviti... OMIM:616268
Semilobar Holoprosencephaly
Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te... ORPHA:93924
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Doors Syndrome
Congenital hypothyroidism, Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia ORPHA:79500
Kabuki Syndrome 1
Recurrent otitis media, Congenital hypothyroidism, Cryptorchidism, Premature thelarche, Recurrent... OMIM:147920
Fontaine Progeroid Syndrome
Absent nipple, Cryptorchidism, Hypoplastic nipples, Pneumothorax, Left ventricular hypertrophy, R... OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Otitis media, Cryptorchidism, Recurrent respiratory infections, Hydrocele testis ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Otitis media, Cryptorchidism, Recurrent respiratory infections, Hydrocele testis ORPHA:353277
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration, Increased circu... ORPHA:79318
Yunis-Varon Syndrome
Hypoplastic nipples, Absent nipple, Cryptorchidism, Aspiration pneumonia OMIM:216340

Histopathology

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

There is no histopathology data for Cish

IMPC related publications

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

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Role of Cytokine-Inducible SH2 Domain-Containing Protein (CISH) in the Regulation of Basal and Cytokine-Mediated Myelopoiesis. International journal of molecular sciences (August 2023) Cishtm1a(KOMP)Wtsi PMC10454631
Hepatic cytokine-inducible SH2-containing protein (CISH) regulates gluconeogenesis via cAMP-responsive element binding protein (CREB). FASEB journal : official publication of the Federation of American Societies for Experimental Biology (October 2022) Cishtm1c(KOMP)Wtsi 36083102
Cytokine-inducible SH2 domain containing protein contributes to regulation of adiposity, food intake, and glucose metabolism. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (May 2022) Cishtm1a(KOMP)Wtsi 35470501
CISH constrains the tuft-ILC2 circuit to set epithelial and immune tone. Mucosal immunology (July 2021) Cishtm1a(KOMP)Wtsi 34290377
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cishtm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cishtm1a(KOMP)Wtsi PMC6459510

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MGI Allele Allele Type Produced
Cishtm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cishtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cishtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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