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Gene: Il17ra MGI:107399

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Gene Summary

Name:
interleukin 17 receptor A
Synonyms:
VDw217,  Il17r

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
decreased grip strength Il17raem1(IMPC)Mbp HOM   Early adult 1.39×10-07
abnormal gait Il17raem1(IMPC)Mbp HOM Early adult 7.93×10-12
increased vertical activity Il17raem1(IMPC)Mbp HOM Early adult 5.58×10-23
abnormal skin morphology Il17raem1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Il17raem1(IMPC)Mbp HOM Early adult 0.00
small liver Il17raem1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Il17raem1(IMPC)Mbp HOM   Early adult 4.42×10-05
abnormal liver morphology Il17raem1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Il17raem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Il17raem1(IMPC)Mbp HOM   Early adult 3.90×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Il17ra mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Il17ra by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym... OMIM:613953
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Pruritus, Skin rash ORPHA:1334

The table below shows human diseases predicted to be associated to Il17ra by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Neutrop... OMIM:616022
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia, Severe infection OMIM:619407
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym... OMIM:613953
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Intermittent thro... OMIM:616740
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Crohn's disease, Arthritis, Decreased circulating antibody level, Ps... OMIM:616100
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Immunodeficiency 32B
BCGitis, Anemia, Recurrent infections, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circula... OMIM:226990
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Crohn's diseas... ORPHA:436159
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne... OMIM:300299
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... ORPHA:572
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Recurrent infections, Thrombocytopenia, Splenomegal... OMIM:615285
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections,... OMIM:209920
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Increased circulating interleukin 6 concentration, Pancreatitis, Abnorma... ORPHA:70578
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Pancytopenia, Lymphocytos... OMIM:614470
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem... OMIM:619632
Myelolymphatic Insufficiency
Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr... OMIM:310350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Recurrent viral infections, Recurrent my... OMIM:614172
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczematoid dermatitis OMIM:254400
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Abnormal natural killer cell count, Abnormal prop... OMIM:212050
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Psoriasiform dermatitis, Thrombocytopenia, Eczematoid dermatitis OMIM:617443
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Chilblain Lupus 2
Chilblains OMIM:614415
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Recurrent infections, B lym... OMIM:150550
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, Atopic dermatitis, T lymphocytop... OMIM:618806
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Severe Epstein Barr virus infection, Hemophagocytosis, Rec... OMIM:308240
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Decreased circulating total IgM, Increased circulati... OMIM:617638
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus ORPHA:345
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir... OMIM:615387
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Pruri... ORPHA:324964
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl... OMIM:616941
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Recurrent ... ORPHA:486
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Lymphatic Malformation 7
Pulmonary edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal tra... OMIM:617300
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Familial Reactive Perforating Collagenosis
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem... ORPHA:79147
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Immunodeficiency 88
BCGosis, Eosinophilia OMIM:619630
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Crohn's disease, Acute pancreatiti... OMIM:618935
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, T lymphocytopen... OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased circ... OMIM:619281
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Skin rash, Thrombocytopenia, Splenomegaly, Conjunctivitis, Edema, Neutr... OMIM:603552
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Decreased circulating IgG level, Recurrent sinusitis, Recurrent pneumonia... OMIM:615577
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune thrombocyt... ORPHA:37042
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Eczematoid ... OMIM:269840
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop... ORPHA:47612
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Bronchiolitis obl... OMIM:300755
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Leukocytosis, Pericarditis, Pedal e... ORPHA:188
Cyclic Neutropenia
Perianal abscess, Sepsis, Recurrent tonsillitis, Periodontitis, Lymphopenia, Tooth abscess, Sinus... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Bullous Pemphigoid
Psoriasiform dermatitis, Pruritus, Eczematoid dermatitis ORPHA:703
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Arthritis, Muscular edema, Edema, Eosinophilia, Fasciitis ORPHA:3165
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri... ORPHA:183675
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Neonatal Alloimmune Neutropenia
Sepsis, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Severe infec... ORPHA:464370
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Folliculit... OMIM:300635
Immunodeficiency 62
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c... OMIM:618459
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia ORPHA:70587
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio... OMIM:306400
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Thrombocytopenia, Leukopenia, Neutr... OMIM:229050
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Psoriasis 2
Psoriasiform dermatitis OMIM:602723
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Persistent CMV viremia, Recur... OMIM:617514
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Aspergillosis
Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuritis, Increased circulating ... ORPHA:1163
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Arthritis, Skin rash, Meningitis, Sinusitis, Abnormal lung ... ORPHA:47
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Eczematoid dermatitis OMIM:614493
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Hemophagocytic Syndrome Associated With An Infection
Severe cytomegalovirus infection, Anemia, Hemophagocytosis, Abnormal natural killer cell count, P... ORPHA:158048
Alopecia Universalis
Psoriasiform dermatitis, Atopic dermatitis ORPHA:701
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Blepharitis, Psoriasiform dermatitis OMIM:616834
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating interleukin 6... ORPHA:158061
Pemphigus Foliaceus
Pustule, Erythroderma, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pruritus ORPHA:79481
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Ecze... OMIM:304790
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp... ORPHA:231154
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, B lymphocytopenia, Optic neuritis, Decreased circu... OMIM:301081
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, B lymphocytopenia, Arthritis, Decrease... ORPHA:221139
Specific Granule Deficiency 2
Sepsis, Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil ... OMIM:617475
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Chronic ... OMIM:618282
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Juvenile Arthritis
Skin rash, Thrombocytosis, Leukocytosis OMIM:618795
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Acne inversa OMIM:613736
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia, Si... ORPHA:277
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Persistent EBV viremia, Neoplasm ... ORPHA:158057
Immunodeficiency 108 With Autoinflammation
Recurrent abscess formation, Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hypos... OMIM:260570
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Pulmonary artery atresia, Increased circulating interleukin 10 concentration... OMIM:613759
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Erythroderma, Recurr... OMIM:615508
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Psoriasiform dermatitis, Chronic si... OMIM:606593
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Preeclampsia
Pulmonary edema, Thrombocytopenia, Helicobacter pylori infection ORPHA:275555
Congenital Enterovirus Infection
Myocarditis, Sepsis, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphology, Ski... ORPHA:292
Sapho Syndrome
Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammation of the large inte... ORPHA:793
High Altitude Pulmonary Edema
Pulmonary edema, Leukocytosis ORPHA:330012
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis OMIM:619986
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Immunodeficiency, Common Variable, 13
Polyhydramnios, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymp... OMIM:616873
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha... ORPHA:3243
Immunodeficiency 116
Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi... OMIM:608957
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Abnormal lymphocyte morphology, Decreased circulating antibody level, Sev... ORPHA:293978
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Reduced antigen-specific T cell prolifer... ORPHA:331206
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Increased circulating inte... ORPHA:540
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Anemia, Gout, Neutropenia OMIM:617056
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Aicardi-Goutieres Syndrome 6
Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentration,... OMIM:615010
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... OMIM:619510
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Panhypogammaglobulinemia, Ascites, T lymphocytopenia, Recurrent aspi... ORPHA:79124
Whim Syndrome
Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph... ORPHA:51636
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Abnormality of the ovary, Gait disturbance ORPHA:1875
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatosp... ORPHA:911
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Fusariosis
Onychomycosis, Granuloma, Sinusitis, Unusual CNS infection, Lymphopenia, Neutropenia, Hypersensit... ORPHA:228119
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutr... OMIM:616738
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Kid Syndrome
Arthritis, Recurrent bacterial skin infections, Angular cheilitis, Folliculitis, Punctate keratit... ORPHA:477
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Decreased circulating antibody level, Generalized edema, Decreas... ORPHA:79330
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Recurrent infections, Reticulocytopenia, Bone marrow hypocellularity, Throm... ORPHA:88
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly OMIM:619175
Necrobiosis Lipoidica
Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology ORPHA:542592
Disabling Pansclerotic Morphea Of Childhood
Recurrent infections, Neutropenia, Lymphopenia OMIM:620443
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Pulmonary hemorrhage... OMIM:603585
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hypoplasia of the ... OMIM:617241
Hemochromatosis, Type 3
Arthritis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemothorax, Abnormal pulmonary vein morphol... ORPHA:199241
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Pneumonia, Abnormal immunoglobulin level, Increased circulating IgG lev... ORPHA:276
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Leukopenia, Refractory anemia OMIM:616871
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Anemia, Dehydration, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat... OMIM:169400
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Increased circulating interleukin 6 concentration, Anemia, Cystic acne, Acne inversa OMIM:608068
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn... OMIM:604416
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... OMIM:617780
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Increased circulating IgM level, Splenomegaly, Pruritus ORPHA:37748
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Thrombocytopenia, Leukopenia OMIM:618116
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia, Chilblains OMIM:612952
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis OMIM:613148
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Leukocyt... ORPHA:98850
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce... ORPHA:98848
Netherton Syndrome
Sepsis, Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Angioedema, Dec... OMIM:256500
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Reticular Dysgenesis
Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia, Abnorm... ORPHA:33355
Acute Generalized Exanthematous Pustulosis
Cheilitis, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustule, Neutrophilia, Con... ORPHA:293173
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Recurrent infections, Recurrent systemic pyogenic infect... OMIM:214500
Familial Isolated Restrictive Cardiomyopathy
Peripheral edema, Pulmonary edema, Recurrent respiratory infections ORPHA:75249
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Skin rash, Abnormal platelet function, Recurrent bacterial skin in... ORPHA:167
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hemophagocytosis, Recurrent lower respiratory tract i... OMIM:619644
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly, Erythema nodosum OMIM:611762
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Pedal edema ORPHA:330001
Japanese Encephalitis
Pulmonary edema, Increased circulating antibody level, Increased circulating IgM level, Neutrophi... ORPHA:79139
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Immunodeficiency 96
Recurrent otitis media, Increased mean corpuscular volume, Increased proportion of gamma-delta T ... OMIM:619774
H Syndrome
Chronic rhinitis, Hepatosplenomegaly, Bronchiectasis, Psoriasiform dermatitis, Histiocytosis, Mic... ORPHA:168569
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis ORPHA:458803
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Mastocytosis, Cutaneous
Edema, Cutaneous mastocytosis OMIM:154800
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Recurrent opportunisti... OMIM:613179
Dracunculiasis
Recurrent cutaneous abscess formation, Arthritis, Skin rash, Pruritus ORPHA:231
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Blepharitis, Pustule, Psoriasiform dermatitis, Chapped lip ORPHA:294023
Hellp Syndrome
Pulmonary edema, Decreased mean corpuscular hemoglobin concentration, Pleural effusion, Generaliz... ORPHA:244242
Hydroa Vacciniforme
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... ORPHA:330058
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased... ORPHA:98813
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Recurrent ... OMIM:608233
Sepsis In Premature Infants
Neonatal sepsis, Anemia, Increased circulating interleukin 6 concentration, Leukocytosis, Invasiv... ORPHA:90051
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Cinca Syndrome
Anemia, Arthritis, Skin rash, Lymphedema, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Meningi... OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Malar rash... OMIM:603909
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal a... OMIM:613470
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Pleural effusion, Ascites, Generalized edema, Peripheral edema ORPHA:64739
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Recurrent infections, Chronic neutropenia, Neut... OMIM:258360
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis OMIM:616744
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 co... OMIM:620514
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Anemia, Acute tubulointerstitial nephritis, Increased circulating interleukin 6 ... ORPHA:340
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Recurrent respiratory infections, Minimal ch... OMIM:620565
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Aplasia of the thymus, T lymphocytopenia, Eczematoid dermatitis, Bronchiectasis, Recurr... OMIM:242700
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... OMIM:102700
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Severe B lymphocytopenia, Recu... OMIM:603554
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Pneumonia, Sepsis, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, I... OMIM:602450
Poikiloderma With Neutropenia
Recurrent otitis media, Skin rash, Recurrent bronchopulmonary infections, Blepharitis, Recurrent ... OMIM:604173
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Abnormal circulating interleukin concentration, Arthritis, Synovitis ORPHA:85435
Immunodeficiency 55
Recurrent infections, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent natur... OMIM:617827
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent skin infections, Al... OMIM:603165
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Skin rash, N... OMIM:618048
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Leukopenia, Splenomegaly, Recurrent skin infections, Lymphopenia... OMIM:620210
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the spleen, Abnormality of ... ORPHA:543
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Rheumatoid arthritis, Hashim... ORPHA:49041
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circ... ORPHA:90045
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Hepatosple... OMIM:612541
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Stomatitis, Leukocytosis, Leukopenia, Thrombocytopenia, Diffuse alveolar he... ORPHA:520
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Steppage gait, Abnormal female external genitalia morphology, Male hypogonadi... ORPHA:168563
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Recurrent infections, Schistocytosis, Recurrent infection of the gastrointestinal tract, ... OMIM:301110
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Maculopapular exanthema, Pancytopenia, Malar rash, Skin rash, Thrombocyt... ORPHA:398124
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim... ORPHA:436252
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... ORPHA:85410
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Majeed Syndrome
Skin rash, Anemia of inadequate production, Hepatosplenomegaly, Inflammatory abnormality of the s... OMIM:609628
Propionic Acidemia
Pancreatitis, Anemia, Pancytopenia, Dehydration, Eczematoid dermatitis, Thrombocytopenia, Neutrop... OMIM:606054
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Diamond-Blackfan Anemia 7
Recurrent otitis media, Polyhydramnios, Macrocytic anemia, Increased mean corpuscular volume, Rec... OMIM:612562
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification ORPHA:314473
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Sepsis, ... ORPHA:178320
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, ... ORPHA:3261
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increa... ORPHA:69126
Wells Syndrome
Edema, Eosinophilia ORPHA:901
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, Recurrent lower respiratory tract infections, B lymphocytopenia, Reticulocy... ORPHA:508542
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level, Pruritus OMIM:270300
Letterer-Siwe Disease
Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis, Pruritus ORPHA:280785
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Oligohydramnios, Aspiration pneumonia, Neutropenia OMIM:618253
Ichthyosis Vulgaris
Eczematoid dermatitis OMIM:146700
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Barth Syndrome
Recurrent infections in infancy and early childhood, Hypochromic microcytic anemia, Recurrent bro... OMIM:302060
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Recurrent viral infections, Hepatosplenomegaly, Colonic eosinophilia, Eosinoph... OMIM:618999
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Anemia, Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Increased cir... OMIM:617303
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections ORPHA:36237
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Sepsis, Acute infectious pneumonia, Pleural empyema, Pleura... ORPHA:36238
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Lymphedema, Myeloproliferative d... ORPHA:3226
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Immunodeficiency 92
Thrombocytosis, Sclerosing cholangitis, Decreased proportion of class-switched memory B cells, Ly... OMIM:619652
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema OMIM:105210
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, Splenomegaly, Pruritus ORPHA:2584
Griscelli Syndrome Type 2
Splenomegaly, Neutropenia, Hemophagocytosis, Pancytopenia ORPHA:79477
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Leukocytosis, Conjunctivitis, Uveitis OMIM:120100
Necrotizing Enterocolitis
Neonatal sepsis, Ascites, Leukocytosis, Thrombocytopenia, Peritonitis, Edema, Neutropenia ORPHA:391673
C1Q Deficiency 2
Recurrent otitis media, Anemia, Malar rash, Arthritis, Discoid lupus rash, Chilblains, Bronchiect... OMIM:620321
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Dehydration, Thrombocytopenia, Leukopenia, Tubulointerstitial nephritis, Neutropenia OMIM:251000
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Osteoporosis, Cognitive impairment, Gait ataxia, Incr... OMIM:615300
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu... ORPHA:2902
Cirrhotic Cardiomyopathy
Peripheral edema, Pulmonary edema, Ascites ORPHA:57777
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Complete or near-complet... OMIM:615468
Cardiomyopathy, Familial Hypertrophic, 4
Pericardial effusion, Ascites, Pulmonary edema OMIM:115197
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Pruritus ORPHA:330064
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Recurrent Asper... ORPHA:391487
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L... OMIM:152700
Ulerythema Ophryogenesis
Contact dermatitis, Acne ORPHA:3406
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Skin... OMIM:617099
Keratolytic Winter Erythema
Pustule ORPHA:50943
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, Granuloma, Hepatosplenomegal... OMIM:619858
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Recurrent infections, Megaloblastic anemia, Skin rash, Neutropenia ORPHA:79284
Intrahepatic Cholestasis Of Pregnancy
Pruritus on foot, Palmar pruritus, Abnormal circulating interleukin concentration, Cholecystitis,... ORPHA:69665
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Recurrent infections, Dehydration, Recurrent pneumonia, Thrombocytopenia, Leukope... OMIM:616271
Omenn Syndrome
Sepsis, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Splenome... ORPHA:39041
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Leukopenia OMIM:614171
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Recurrent infect... OMIM:242900
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Elastoderma
Erysipelas, Eczematoid dermatitis ORPHA:228240
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... OMIM:273250
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec... OMIM:301000
Ogden Syndrome
Pulmonary edema, Recurrent otitis media, Iron deficiency anemia, Recurrent infections, Lymphedema... OMIM:300855
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pleural effusion, Ascites, Pericardial effusion, Peripheral edema, Anasarca OMIM:261740
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Pancytopenia, Stomatitis, Recurrent infections, Megaloblastic anemia, Skin rash, Thromboc... OMIM:277380
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pustule, Infectious... ORPHA:139402
Schimke Immuno-Osseous Dysplasia
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Recurrent infections OMIM:618092
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Zygomycosis
Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a... ORPHA:73263
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Synovitis, Pustule, Osteomyelitis, Splenomegaly, Inf... ORPHA:77297
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Pulmona... OMIM:613989
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocyto... OMIM:242840
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Recurrent respiratory infections, T lympho... OMIM:607944
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Recurrent infections, Dehydration, Ascites, Neutropenia ORPHA:1667
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis, Gonadal ... ORPHA:314478
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Neutropenia OMIM:250940
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Edema, Myocarditis, Increased circulatin... ORPHA:36234
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Agitation, Pancreatitis, Depression, Emotional lability, Osteoporosis, Ovarian cyst, ... OMIM:610475
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Splenomegaly, Recurrent respiratory infections, Neutr... OMIM:617050
Roifman Syndrome
Recurrent otitis media, Decreased circulating antibody level, Eczematoid dermatitis, Recurrent pn... ORPHA:353298
Heme Oxygenase 1 Deficiency
Sepsis, Increased circulating interleukin 6 concentration, Asplenia, Nephritis, Coombs-positive h... OMIM:614034
Pityriasis Rubra Pilaris
Erythroderma, Pustule, Pruritus, Eczematoid dermatitis ORPHA:2897
Uremic Pruritus
Abnormal circulating cytokine concentration, Recurrent skin infections, Inflammatory abnormality ... ORPHA:94059
Protoporphyria, Erythropoietic, 1
Pruritus, Hemolytic anemia, Eczematoid dermatitis OMIM:177000
Boutonneuse Fever
Increased circulating IgG level, Skin rash, Increased circulating IgM level, Leukopenia, Thromboc... ORPHA:83313
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Skin rash ORPHA:1658
Ethylene Glycol Poisoning
Cerebral edema, Gastritis, Pulmonary edema ORPHA:31826
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Atopic dermatitis, Ascites, Edema, Eosinophilia, Allergic rhinitis ORPHA:2070
Mast Cell Sarcoma
Splenomegaly, Mastocytosis ORPHA:66661
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Recurrent infections, Skin rash, Increased circulating IgE lev... ORPHA:2314
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Cartilage-Hair Hypoplasia
Susceptibility to chickenpox, Impaired lymphocyte transformation with phytohemagglutinin, Anemia,... OMIM:250250
Porphyria Cutanea Tarda, Type I
Eczematoid dermatitis OMIM:176090
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Increased circulating IgG level, Malar rash, Increased circulating IgA level, Skin rash, ... OMIM:615934
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe... ORPHA:448237
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Abnormal pulmonary interstitial morphology, Anemia, Macrocytic anemia, Pancytope... OMIM:613990
Absence Of The Pulmonary Artery
Pulmonary edema, Recurrent pneumonia, Pulmonary hypoplasia, Bronchiectasis, Recurrent respiratory... ORPHA:980
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Refractory sideroblastic anemia, Anemia, Pancytopenia, Recurrent infections, Ret... OMIM:557000
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Panniculitis, Myositis, Arthritis, Skin rash, Sinus... OMIM:617591
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Leukocyte Adhesion Deficiency, Type Iii
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent skin infections, Extramedullary... OMIM:612840
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Colitis, Diffuse alveolar hemorrhage, Tubulointerstitial nephritis... ORPHA:90068
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmar pruritus, Pruritus on foot, Eczematoid dermatitis, Pruritis on abdomen, Pruritis on hand, ... ORPHA:64745
Limb-Mammary Syndrome
Blepharitis, Psoriasiform dermatitis, Chronic irritative conjunctivitis ORPHA:69085
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Eczematoid dermatitis OMIM:619751
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural k... OMIM:616050
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Pruritus, Eczematoid dermatitis ORPHA:79278
Hyper-Igd Syndrome
Chronic oral candidiasis, Recurrent infections, Arthritis, Skin rash, Increased circulating IgA l... OMIM:260920
Liver Disease, Severe Congenital
Pulmonary edema, Sepsis, Recurrent otitis media, Anemia, Lymphocytosis, Chronic gastritis, Recurr... OMIM:619991
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Vexas Syndrome
Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Inflammatory abnormality of the skin, ... OMIM:301054
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus ORPHA:79099
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, ... OMIM:260400
Tafro Syndrome
Anemia, Increased circulating interleukin 6 concentration, Pleural effusion, Leukocytosis, Ascite... ORPHA:457077
Toxic Epidermal Necrolysis
Sepsis, Pancreatitis, Anemia, Thrombocytopenia, Abnormal pleura morphology, Conjunctivitis, Recur... ORPHA:537
Methylmalonic Aciduria, Cblb Type
Anemia, Pancytopenia, Dehydration, Thrombocytopenia, Neutropenia OMIM:251110
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Mic... OMIM:614837
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule, Increased circulating antibody level, Pruritus ORPHA:48377
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Cystic Echinococcosis
Increased circulating antibody level, Splenic cyst, Invasive parasitic infection, Peritoneal absc... ORPHA:400
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Dehydration, Thrombocytopenia, Neutropenia OMIM:251100
Roifman Syndrome
Recurrent otitis media, Eczematoid dermatitis, Recurrent pneumonia, Splenomegaly, Eosinophilia OMIM:616651
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis ORPHA:2237
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Recurrent lower respiratory tract infections, Neutropenia OMIM:618005
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lung morphology, Neutrophilia, Brain abscess ORPHA:54251
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Thyroiditis, Increased circulating ... OMIM:617388
Amyloidosis, Familial Visceral
Skin rash, Splenomegaly OMIM:105200
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Kikuchi-Fujimoto Disease
Myocarditis, Palpebral edema, Abnormal pulmonary interstitial morphology, Anemia, Lymphocytosis, ... ORPHA:50918
Good Syndrome
Anemia, Abnormal leukocyte morphology, Decreased circulating antibody level, Sinusitis, Thrombocy... ORPHA:169105
Prolidase Deficiency
Anemia, Increased circulating antibody level, Eczematoid dermatitis, Recurrent pneumonia, Thrombo... OMIM:170100
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Shwachman-Diamond Syndrome 2
Recurrent infections, Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-switched memory B cells, ... OMIM:233600
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Rat-Bite Fever
Morbilliform rash, Myocarditis, Anemia, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymphadeni... ORPHA:31205
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Joint swelling, A... OMIM:612852
Scorpion Envenomation
Myocarditis, Pulmonary edema, Acute pancreatitis, Edema ORPHA:466677
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Skin rash, Abnormal lymphocyte morphology, Rheumatoid arthri... ORPHA:100026
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Hypoplasia of the thymus, Pulm... ORPHA:3384
Glycogen Storage Disease Ib
Pancreatitis, Inflammation of the large intestine, Splenomegaly, Gout, Recurrent bacterial infect... OMIM:232220
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Trichothiodystrophy
Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Recurrent ... ORPHA:33364
Cholestasis-Lymphedema Syndrome
Erysipelas, Splenomegaly OMIM:214900
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplas... ORPHA:432
Generalized Pustular Psoriasis
Cheilitis, Arthritis, Leukocytosis, Palmoplantar pustulosis, Pustule, Lymphopenia, Erythroderma, ... ORPHA:247353
Adult-Onset Still Disease
Myocarditis, Anemia, Pleuritis, Arthritis, Skin rash, Leukocytosis, Pericarditis, Arthralgia/arth... ORPHA:829
Yao Syndrome
Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si... OMIM:617321
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Systemic-Onset Juvenile Idiopathic Arthritis
Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis, Juvenile rheumatoid arthritis ORPHA:85414
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Familial Mediterranean Fever
Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Pericarditis, Erysipelas, ... OMIM:249100
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4... ORPHA:449400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Neutropenia OMIM:615471
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Increased proportion of HLA DR+ T c... ORPHA:398063
Blue Rubber Bleb Nevus
Skin rash, Microcytic anemia ORPHA:1059
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Familial Benign Copper Deficiency
Anemia, Acne ORPHA:1551
Graft Versus Host Disease
Gastrointestinal inflammation, Hemophagocytosis, Inflammatory abnormality of the eye, Stomatitis,... ORPHA:39812
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial pneumonitis, Gr... ORPHA:454831
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Histiocytoid Cardiomyopathy
Pulmonary edema ORPHA:137675
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema ORPHA:73224
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Increased circulating interleukin 6 concentration, Pleuritis, Acute co... ORPHA:544482
Bardet-Biedl Syndrome 1
Gait imbalance, Abnormality of the ovary, Decreased testicular size, Biliary tract abnormality, A... OMIM:209900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Anemia of inadequate production, Splenomegaly, Allergic rhinitis OMIM:612714
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
X-Linked Intellectual Disability, Nascimento Type
Recurrent ear infections, Oligohydramnios, Recurrent cutaneous abscess formation, Recurrent respi... ORPHA:163956
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus OMIM:619151
Cutaneous Collagenous Vasculopathy
Skin rash, Pruritus ORPHA:280779
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Recurrent infections, Decreased circulating antibody level, Lymphopenia, Erythroderma, Eosinophilia OMIM:617425
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Pancytopenia, Recurrent infections, Neutropenia in presence of anti-neutropil antibo... ORPHA:228426
Tako-Tsubo Cardiomyopathy
Pulmonary edema ORPHA:66529
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Thrombocytopenia, Keratoconjunctivitis ORPHA:79242
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... OMIM:227645
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Inflammation of the large intestine, Gout, Cyclic neutropenia, ... OMIM:232240
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Dengue Fever
Thrombocytopenia, Leukopenia, Pruritus, Skin rash ORPHA:99828
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Pediatric Systemic Lupus Erythematosus
Malar rash, Arthritis, Skin rash, Discoid lupus rash, Lymphopenia, Myositis, Nephritis, Thrombocy... ORPHA:93552
Coccidioidomycosis
Skin rash, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, Morbilliform rash, C... ORPHA:228123
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Anemia, Arthritis, Parotitis, Increased B cell... OMIM:620376
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Kasabach-Merritt Phenomenon
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... ORPHA:2330
Leigh Syndrome
Severe viral infection, Eczematoid dermatitis, Anemia, Neutropenia ORPHA:506
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Skin rash, Eczematoid derm... ORPHA:634
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm... OMIM:619665
Estrogen Resistance Syndrome
Osteopenia, Breast hypoplasia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Oste... ORPHA:785
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Erysipelas, Conjunctivitis, Maculopapular exanthema, Oligoarthritis OMIM:142680
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm... OMIM:619203
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Anemia, Panniculitis, Pancytopenia, Arthritis, Skin rash, Decreased circu... OMIM:615688
Cryptogenic Organizing Pneumonia
Pneumothorax, Neutrophilia, Leukocytosis ORPHA:1302
Lymphatic Filariasis
Predominantly lower limb lymphedema, Knee osteoarthritis, Lymphedema, Lymphadenitis, Abnormal lun... ORPHA:2035
Leukocyte Adhesion Deficiency Type Ii
Palpebral edema, Recurrent otitis media, Severe periodontitis, Anemia, Recurrent infections, Recu... ORPHA:99843
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Skin rash, Chronic mucocuta... OMIM:147060
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... OMIM:619381
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Episcleritis, Keratitis, Thrombocytopenia, ... ORPHA:525731
Dermatitis Herpetiformis
Microcytic anemia, Pruritus, Eczematoid dermatitis ORPHA:1656
Rothmund-Thomson Syndrome
Aplastic anemia, Anemia, Malar rash, Skin rash, Facial edema, Leukemia, Neutropenia ORPHA:2909
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Sinusitis, Endocarditis, Abnormal pleura morphology,... ORPHA:183
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Anemia, Pancreatitis, Periodontitis, Thyroiditis, Chronic neutropenia, Inflammation of the large ... ORPHA:79259
Chronic Granulomatous Disease
Liver abscess, Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Splenomegal... ORPHA:379
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Skin rash, Inflammation of the large intestine, Bl... OMIM:617718
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Blepharitis, Pruritus, Eczematoid dermatitis OMIM:618535
Estrogen Resistance
Osteopenia, Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Pearson Syndrome
Hydrops fetalis, Anemia, Pancytopenia, Corneal stromal edema, Dehydration, Reticulocytosis, Bone ... ORPHA:699
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis OMIM:608118
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Stomatitis, Megaloblastic anemia, Dehydration, Thrombocytopenia, Neutropenia ORPHA:79282
Revesz Syndrome
Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia OMIM:268130
Pseudopelade Of Brocq
Recurrent skin infections, Cheilitis ORPHA:129
Dermatomyositis
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Abnormal eosinophil morphology... ORPHA:221
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... ORPHA:449395
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph... OMIM:614162
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Reduced ... ORPHA:90796
Microcephaly 20, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly ORPHA:79332
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash ORPHA:90036
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Eosinoph... OMIM:158310
Herpes Simplex Virus Encephalitis
Neutrophilia, Cerebral edema, Leukocytosis ORPHA:1930
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... OMIM:227646
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema OMIM:220111
Papillon-Lefèvre Syndrome
Liver abscess, Severe periodontitis, Periodontitis, Pustule, Chronic furunculosis, Recurrent cuta... ORPHA:678
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Cohen Syndrome
Neutropenia ORPHA:193
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating antibody level, Cholangitis, Increased circulating IgG level, ... ORPHA:449432
Idiopathic Hypereosinophilic Syndrome
Angioedema, Splenomegaly, Cholangitis, Neutrophilia, Hepatosplenomegaly, Joint swelling, Pulmonar... ORPHA:3260
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Abnormal lung morphology, Nephritis, Increased... ORPHA:449427
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c... OMIM:278850
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Leukocytosis, Lymphadenitis, Eczematoid dermatitis, Thin skin, Inflammation of the large ... OMIM:615895
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Arthritis, Skin rash, Leukocytosis, Pericarditis, Erysipelas, Splenomegaly, Orchitis, C... ORPHA:32960
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Anemia, Neutropenia ORPHA:175
Intellectual Developmental Disorder, Autosomal Dominant 54
Eczematoid dermatitis, Neutropenia OMIM:617799
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Meckel Syndrome 14
Decreased calvarial ossification, Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Hermansky-Pudlak Syndrome
Pulmonary fibrosis, Neutropenia ORPHA:79430
Bloom Syndrome
Cheilitis, Acute myeloid leukemia, Decreased proportion of CD4-positive T cells, Abnormal proport... ORPHA:125
Woodhouse-Sakati Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Stre... ORPHA:3464
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Sepsis, Anemia, Xerostomia, Skin rash, Rhinitis, Anterior uveitis,... ORPHA:95455
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Satoyoshi Syndrome
Hypoplasia of the uterus, Osteolytic defects of the phalanges of the hand OMIM:600705
Khan-Khan-Katsanis Syndrome
Neutropenia, Anemia, Lymphopenia OMIM:618460
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Anemia, Facial edema, Leukemia, Neutropenia ORPHA:221008
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:256040
Alveolar Echinococcosis
Liver abscess, Anemia, Cholangitis, Increased circulating antibody level, Abnormal spleen morphol... ORPHA:284
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Complement Factor I Deficiency
Recurrent otitis media, Recurrent sinusitis, Septic arthritis, Recurrent skin infections, Pyelone... OMIM:610984
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Anemia, Facial edema, Leukemia, Neutropenia ORPHA:221016
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Splenic abscess, Conjunctiviti... ORPHA:533
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Igg4-Related Ophthalmic Disease
Palpebral edema, Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Increased circulating IgE l... ORPHA:449563
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina OMIM:146255
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Leukopenia, Lymphopeni... ORPHA:289390
Loeffler Endocarditis
Eosinophilia, Pericarditis ORPHA:75566
Biotinidase Deficiency
Seborrheic dermatitis, Skin rash, Splenomegaly, Conjunctivitis, Recurrent skin infections OMIM:253260
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin ORPHA:2483
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat... ORPHA:3132
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Dementia, Small scrotum, Cryptorchidism, Hypoplasia of t... OMIM:119500
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Pedal edema OMIM:617107
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Sepsis, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia, Hepatitis ORPHA:199299
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Ambiguous genitalia, Hypospadias, Abnormal ovarian... ORPHA:95699
Aspartylglucosaminuria
Vacuolated lymphocytes, Recurrent respiratory infections, Acne, Neutropenia OMIM:208400
Chromosome 17Q12 Deletion Syndrome
Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut... OMIM:614527
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Leukocytosis, Pericarditis, Erysipelas, Splenomegaly, Osteoar... ORPHA:342
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Blau Syndrome
Iritis, Arthritis, Synovitis, Eczematoid dermatitis, Pericarditis, Nongranulomatous uveitis, Eryt... OMIM:186580
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Cholestatic liver disease, Cirrhosis, Reduced bone mineral density, Elevated circulat... ORPHA:99413
Turner Syndrome
Osteopenia, Cholestatic liver disease, Cirrhosis, Reduced bone mineral density, Elevated circulat... ORPHA:881
Mosaic Monosomy X
Osteopenia, Cholestatic liver disease, Cirrhosis, Reduced bone mineral density, Elevated circulat... ORPHA:99228
Monosomy X
Osteopenia, Cholestatic liver disease, Cirrhosis, Reduced bone mineral density, Elevated circulat... ORPHA:99226
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Castleman Disease
Thrombocytopenia, Increased circulating interleukin 6 concentration, Anemia, Decreased mean corpu... ORPHA:160
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Leukocytosis, I... ORPHA:99829
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Malakoplakia
Skin rash, Inflammatory abnormality of the skin, Orchitis, Urinary bladder inflammation, Pruritus ORPHA:556
Behcet Syndrome
Iritis, Arthritis, Epididymitis, Iridocyclitis, Erythema nodosum OMIM:109650
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Hypospadias, Pancreatic hypoplasia, Bico... OMIM:137920
Postinfectious Vasculitis
Gastrointestinal inflammation, Increased circulating antibody level, Bacterial endocarditis, Incr... ORPHA:48435
Sarcoidosis
Increased T cell count, Leukopenia, Erythema nodosum, Abnormal lung morphology, Abnormal pleura m... ORPHA:797
Primary Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly ORPHA:565612
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Fanconi Anemia, Complementation Group L
Attention deficit hyperactivity disorder, Aplasia of the uterus, Micropenis OMIM:614083
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Crimean-Congo Hemorrhagic Fever
Ascites, Leukopenia, Splenomegaly, Erythema nodosum, Diffuse alveolar hemorrhage, Cholecystitis, ... ORPHA:99827
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Pruritus, Skin rash ORPHA:1334
Cushing Disease
Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne, Pedal edema, Recurrent cutaneous fun... ORPHA:96253
Sponastrime Dysplasia
Decreased circulating antibody level, Recurrent pneumonia, Neutropenia ORPHA:93357
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum, Unilateral crypt... OMIM:618280
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decre... OMIM:241080
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Reynolds Syndrome
Erythema nodosum, Splenomegaly, Pruritus, Lymphopenia OMIM:613471
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin OMIM:610768
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Incontinentia Pigmenti
Skin rash, Keratitis, Eosinophilia, Infectious encephalitis, Uveitis ORPHA:464
Microphthalmia, Syndromic 9
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... OMIM:601186
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Elevated circulating follicle stimulat... OMIM:618419
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of hands, Anemia, Seborrheic dermatitis, Decreased circulating antibody level... OMIM:274000
Incontinentia Pigmenti
Leukocytosis, Keratitis, Eosinophilia, Maculopapular exanthema, Uveitis OMIM:308300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormal sternal ossification, Accessory spleen, Aplasia of the uterus, Precocious p... OMIM:194190
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne, Periphera... ORPHA:99889
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus OMIM:309801
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Compulsive behaviors, Gait ataxia, Cryp... OMIM:135900
Norrie Disease
Irritability, Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Self-in... ORPHA:649
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Ascites, Splenomegaly, Peripheral edema, Eosin... ORPHA:75565
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Ambiguous genitalia, Hypospadias, Vesicovaginal f... OMIM:201750
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... ORPHA:322
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Cervical insufficiency, Cryptorchidism, Uterine ... OMIM:130050
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus OMIM:236680
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Decrease... OMIM:276820
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Loeys-Dietz Syndrome
Craniosynostosis, Uterine rupture ORPHA:60030
Peters-Plus Syndrome
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Biliary tract abnormality, Hypoplasia of ... OMIM:261540
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... OMIM:107480
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Cognitive impairment, Uterine prolapse, Cystocele, Cryptorchidism, ... ORPHA:286
Pallister-Killian Syndrome
Aplasia of the upper vagina, Inability to walk, Hypospadias, Labial hypoplasia, Aplasia of the ut... OMIM:601803
Peters Plus Syndrome
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus ORPHA:709
Pmm2-Cdg
Anasarca, Lymphedema, Aspiration pneumonia, Pericardial effusion, Pericarditis, Impaired neutroph... ORPHA:79318

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 Il17ra

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 Il17ra.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dysregulated Lung Commensal Bacteria Drive Interleukin-17B Production to Promote Pulmonary Fibrosis through Their Outer Membrane Vesicles. Immunity (February 2019) Il17ratm1a(KOMP)Wtsi 30824326
IL-17 Promotes Differentiation of Splenic LSK- Lymphoid Progenitors into B Cells following Plasmodium yoelii Infection. Journal of immunology (Baltimore, Md. : 1950) (July 2017) Il17ratm1a(KOMP)Wtsi PMC5585076
Interleukin-17 receptor a signaling in transformed enterocytes promotes early colorectal tumorigenesis. Immunity (November 2014) Il17ratm1c(KOMP)Wtsi Il17ratm1a(KOMP)Wtsi PMC4272447

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Il17ratm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il17raem1(IMPC)Mbp Exon Deletion Mice, Tissue
Il17ratm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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