banner
Genes Phenotypes Help, News, Blog

Gene: Ash1l MGI:2183158

Log in to follow

Gene Summary

Name:
ASH1 like histone lysine methyltransferase
Synonyms:
E430018P19Rik,  chromatin remodeling factor,  KMT2H,  8030453L17Rik

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
preweaning lethality, complete penetrance Ash1ltm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased grip strength Ash1ltm2b(EUCOMM)Hmgu HET   Early adult 4.51×10-05
increased basophil cell number Ash1ltm2b(EUCOMM)Hmgu HET Early adult 1.34×10-20
increased heart weight Ash1ltm2b(EUCOMM)Hmgu HET Early adult 9.53×10-10
increased fasting circulating glucose level Ash1ltm2b(EUCOMM)Hmgu HET   Early adult 8.35×10-05
abnormal coat appearance Ash1ltm2b(EUCOMM)Hmgu HET Early adult 1.69×10-06
increased eosinophil cell number Ash1ltm2b(EUCOMM)Hmgu HET Early adult 6.46×10-18
impaired pupillary reflex Ash1ltm2b(EUCOMM)Hmgu HET Early adult 3.51×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ash1l 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 Ash1l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Synophrys, Bilateral cryptorchidism, Astigmatism, Overweight, Cryptorc... OMIM:617796

The table below shows human diseases predicted to be associated to Ash1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Recurrent lower respiratory tr... OMIM:619632
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent oral herpes, Neutropenia ... OMIM:619220
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... OMIM:608106
Complement Component 3 Deficiency, Autosomal Recessive
Decreased circulating complement C3 concentration, Nephrotic syndrome, Membranoproliferative glom... OMIM:613779
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i... OMIM:613652
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or... OMIM:613496
Immunodeficiency 64 With Lymphoproliferation
Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in response to mi... OMIM:618534
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Autoimmu... OMIM:617006
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Perinuclear antineutrophil antibody positivity... OMIM:614420
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Nephrotic syndrome, Acute kidney injury, Skin ... ORPHA:567544
Immunodeficiency 95
Increased circulating IgG3 level, Respiratory distress, Decreased circulating IgG3 level, Respira... OMIM:619773
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Glomerular extracapillary hypercellularity, Ne... ORPHA:329918
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Polyarticular arthritis, Recurren... OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 2
Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Skin rash, Anti-bet... OMIM:618048
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Antinuclear antibody positivity, Decreased circulating complement C3 concent... OMIM:615559
Autoimmune Lymphoproliferative Syndrome
Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune... OMIM:601859
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... OMIM:137100
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... OMIM:300310
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sinopulmona... OMIM:615513
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract,... OMIM:609529
Immunodeficiency, Common Variable, 3
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... OMIM:613493
Immunodeficiency 24
Severe varicella zoster infection, Decreased circulating IgG level, Defective T cell proliferatio... OMIM:615897
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Postinfectious Vasculitis
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... ORPHA:48435
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... ORPHA:275
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... OMIM:613500
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurren... OMIM:240500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Autoimmune Lymphoproliferative Syndrome, Type Iia
Malar rash, Antinuclear antibody positivity, Antiphospholipid antibody positivity, Nephrotic synd... OMIM:603909
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Recurrent bronchitis, Autoimmunity, Nephritis, Complement deficiency OMIM:216950
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic an... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... OMIM:308230
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Telangiectasia, Cytoplasmic antineutrophil antibody positivity, Skin rash, Raynaud ph... OMIM:615934
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... OMIM:618982
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... OMIM:612692
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori infection, Rec... ORPHA:2688
Complement Component 6 Deficiency
Recurrent meningococcal disease, Reduced hemolytic complement activity, Decreased circulating com... OMIM:612446
Complement Component 4A Deficiency
Glomerulonephritis, Decreased circulating complement C4 concentration, Systemic lupus erythematos... OMIM:614380
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Septic arthritis, Decreased circulating ... OMIM:610984
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Arthritis, Restrictive ventilatory defect, Dyspnea, Crescentic glomerulonep... OMIM:616414
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Decreased lymphocyte proliferation in response to mitogen, Recurrent lower respi... ORPHA:169154
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Asthma, Recurrent sinopulmonary inf... OMIM:607271
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... OMIM:614699
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Disseminated molluscum contagiosum, Bronchiectasis, Eosinophilic... OMIM:243700
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Bronchiectasis, Autoimmunity, Recurrent bacterial infections, Recurrent u... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... OMIM:608184
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Cryoglobulinemia, Monoclonal immunoglobulin M p... ORPHA:209004
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Neutropenia in presence of anti-... OMIM:607594
Immunodeficiency 27A
Rheumatoid factor positive, Abnormal bronchus physiology, Pneumonia, Increased circulating IgM le... OMIM:209950
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... ORPHA:90280
Complement Component 7 Deficiency
Recurrent meningococcal disease, Decreased circulating complement C7 concentration, Recurrent Nei... OMIM:610102
Simple Cryoglobulinemia
Pericarditis, Viral hepatitis, Microscopic hematuria, Arthritis, Increased circulating IgM level,... ORPHA:91139
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus, Meningitis, Decreased circulating complement C8 concentration OMIM:613790
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... OMIM:193670
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Anti-thyroid peroxidase antibody positivity, Recurrent oral herp... OMIM:615577
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... OMIM:613501
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Meningiti... OMIM:619707
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased circulating beta-2-... ORPHA:572
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis,... OMIM:617388
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Retinal telangiectasia, Decreased circulating IgG level OMIM:267900
Immunodeficiency 88
Eosinophilia OMIM:619630
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Pulmonary insufficiency, Lack of T cell function, Anti-thyroi... ORPHA:277
Autoimmune Hepatitis
Increased total bilirubin, Spider hemangioma, Fulminant hepatitis, Increased circulating antibody... ORPHA:2137
Complement Factor D Deficiency
Recurrent bacterial infections, Partial functional complement factor D deficiency OMIM:613912
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Reduced natural killer cell activity, Decreased circulating ... OMIM:308240
Satoyoshi Syndrome
Genu varum, Abnormality of the knee, Tapered finger, Sparse or absent eyelashes, Short stature, A... ORPHA:3130
Pgm3-Cdg
Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone marrow hypocellularit... ORPHA:443811
Ring Chromosome Y Syndrome
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... ORPHA:331235
Immunodeficiency 23
Persistent EBV viremia, Severe varicella zoster infection, Bronchiectasis, Recurrent Staphylococc... OMIM:615816
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Insulin Autoimmune Syndrome
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... ORPHA:411593
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... ORPHA:183675
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... ORPHA:169079
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Lymphadenitis, Salmonella osteomyelitis, ... ORPHA:319552
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased circulating complement C8 concentration, Recurrent Neisserial infections OMIM:613789
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Acne, Short stature, Synophrys, Abnormality of the ovary, Brachydactyly, ... ORPHA:247768
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Decreased circulating complement C3 concentration, Neph... OMIM:608709
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus, Complement deficiency OMIM:613791
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... OMIM:614372
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Abnormal rib cage mo... OMIM:312300
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 102
Sepsis, Severe varicella zoster infection, Increased circulating interleukin 6 concentration, Dec... OMIM:301082
Complement Factor H Deficiency
Depletion of components of the alternative complement pathway, Glomerular subendothelial electron... OMIM:609814
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating total IgM, Post-vaccination measles, Severe... OMIM:616636
Iga Pemphigus
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... ORPHA:555905
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Decreased circulating total IgM, Bronchiectasis, Asthma, Ulce... OMIM:617638
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Skin rash, Increased circulating IgM level, Vasculitis ORPHA:37748
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level OMIM:312863
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Igg4-Related Aortitis
Antinuclear antibody positivity, Increased circulating IgG4 level, Increased circulating antibody... ORPHA:449400
17Q23.1Q23.2 Microdeletion Syndrome
Patellar hypoplasia, Short stature, Shawl scrotum, Epicanthus, Congenital contracture, Clinodacty... ORPHA:261279
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Autoimmune thrombocytopenia, Myocardial infarction, Increa... ORPHA:3325
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Decreased circulating complement C3 concentration, Nephrotic syndrome, Hematuria, Membranoprolife... OMIM:613913
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... ORPHA:169160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Severe infection, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthritis, Ecz... OMIM:304790
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks, Recurrent upper re... OMIM:615139
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Thymoma
Decreased circulating antibody level, Rheumatoid arthritis, Anti-acetylcholine receptor antibody ... ORPHA:99867
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti... OMIM:618394
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... OMIM:617241
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... OMIM:300510
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, 2-3 toe syndactyly, Sparse body hair, Absent eyelashes, Ankyloblepharon, Vaginal ... OMIM:106260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1... ORPHA:37042
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating antibody level, Pneumocystis jirovecii pne... OMIM:614069
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Eczema, Decreased circulati... OMIM:300988
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... ORPHA:1916
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hepatitis, Autoimmunity, Conjugated hyperbilirubinemia,... ORPHA:186
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... OMIM:617765
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Decreased circulating total IgM, Reduced natural killer cell activity, Recur... OMIM:619281
Autoimmune Lymphoproliferative Syndrome
Glomerulonephritis, Gastritis, Bone marrow hypocellularity, Panniculitis, Colitis, Antinuclear an... ORPHA:3261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... ORPHA:331206
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Recurrent Staphylococcus aureus infections, Craniosynostosis, Skin rash, Rec... OMIM:147060
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... OMIM:209920
C3 Glomerulopathy 3
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... OMIM:614809
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Recurrent respiratory infections, Asthma,... ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Methicillin-resistant Staphylococcus aureus infection, Osteomyelitis, Chronic oral candidiasis, B... OMIM:618282
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Hypoproteinemia, ... OMIM:241600
Immunodeficiency 96
Multicystic kidney dysplasia, Decreased circulating total IgM, Defective T cell proliferation, Ec... OMIM:619774
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... OMIM:612964
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Thyroiditis, Autoimmune thrombocytopenia, Glomerul... OMIM:619375
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Circulating immune complexes, Glomerulonephritis, Re... OMIM:607665
Immunodeficiency 22
Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circulating Ig... OMIM:615758
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... OMIM:617744
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... OMIM:618969
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Recurrent respiratory infections, Increased... OMIM:615767
Zika Virus Disease
Conjunctivitis, Wrist swelling, Myelitis, Skin rash, Arthritis, Ankle swelling, Meningitis, Incre... ORPHA:448237
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Increased circulating IgA... ORPHA:343
Thymic Aplasia
Hypocalcemic tetany, Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningi... ORPHA:83471
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Joint ... OMIM:617099
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Short stature, Epicanthus, Synophrys, Clinodactyly o... ORPHA:3268
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity, Vasculitis in the skin, Inflammat... ORPHA:90159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... OMIM:601457
Systemic Lupus Erythematosus
Malar rash, Antiphospholipid antibody positivity, Arthritis, Nephritis, Pericarditis, Systemic lu... OMIM:152700
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Aplasia of the ovary, Absent lacrimal punctum, Toe syndactyly, 3-4 fing... ORPHA:69085
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Respiratory failure, Renal insufficiency, Maculopapul... ORPHA:83313
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Decreased lymphocyte proliferation in response to mitogen, Re... OMIM:613179
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Joint contracture of the hand, Arthropathy, Craniosynostosis, Hip dislocation, Ec... OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Increased susceptibility to fractures, Decreased circulating total IgM, Bronchiectasis, Asthma, C... OMIM:619752
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Adult Acute Respiratory Distress Syndrome
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... ORPHA:70578
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... OMIM:619824
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infect... OMIM:614470
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Infertility, Male hypogonadism, Abnorma... ORPHA:168563
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Bicornuate uterus, Azoospermia, Sprengel anomaly, Abnormal rib morphology, Hypopla... OMIM:601076
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Post-vaccination polio OMIM:616941
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Recurrent sinusitis, Eczema, Decreased specific anti-polysaccharide anti... OMIM:301000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing ch... ORPHA:562639
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Alopecia, Genu valgum, Short metacarpal, Short s... OMIM:600705
Seckel Syndrome 7
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... OMIM:614851
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Hyper-Igd Syndrome
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... OMIM:260920
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... OMIM:307200
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Decre... ORPHA:859
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... ORPHA:570
Lassa Fever
Conjunctivitis, Shock, Dyspnea, Cough, Increased circulating IgM level, Oliguria, Sepsis ORPHA:99824
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Antiphospholipid antibody positivity, Hypoxemi... ORPHA:90060
Immunodeficiency 52
Persistent EBV viremia, Bronchiectasis, Decreased circulating antibody level, Autoimmune thromboc... OMIM:617514
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Sparse body hair, Impotence, Secondary amenorrhea, Decreased testicular size... ORPHA:432
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Autoimmune antibody positivity, Rheumatoid factor posi... ORPHA:99931
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinopulmonary... OMIM:616576
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Conjunctivitis, Sparse eyebrow, Sparse eyelashes, Folliculitis, Scarring alopecia of scalp, Ectro... OMIM:308800
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... OMIM:617609
Angiostrongyliasis
Stiff neck, Unusual CNS infection, Increased circulating specific IgE antibody, Meningitis, Incre... ORPHA:74
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Clouston Syndrome
Conjunctivitis, Alopecia, Sparse eyebrow, Short stature, Brittle hair, Alopecia totalis, Fine hai... OMIM:129500
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... ORPHA:48377
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Recurrent infections, Eczema OMIM:618985
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Hypoplasia of the ovary, Delayed puberty, Absent p... OMIM:614841
X-Linked Lymphoproliferative Disease
Severe Epstein Barr virus infection, Myocarditis, Hypertriglyceridemia, Decreased circulating tot... ORPHA:2442
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Conjunctivitis, Alopecia, Sparse eyebrow, Enamel hypoplasia, Folliculitis, Scarring alopecia of s... OMIM:612843
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... OMIM:615861
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Blepharophimosis, Sparse pubic hair, Mic... OMIM:110100
Immunodeficiency 85 And Autoimmunity
Persistent EBV viremia, Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circul... OMIM:619510
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circu... OMIM:617690
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... OMIM:614878
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... OMIM:615008
Complement Factor B Deficiency
Decreased circulating complement factor B concentration, Recurrent meningococcal disease, Recurre... OMIM:615561
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... ORPHA:449395
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Abnormal circulating lipid concentration... ORPHA:2298
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Abnormality of tumor nec... ORPHA:158061
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Sepsis, Decreased circulating IgG level,... OMIM:614700
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Ischemic stroke, Impaired T cell function, Bone marrow hypocellulari... ORPHA:1830
Immunodeficiency 48
Panhypogammaglobulinemia, Pneumonia, Recurrent candida infections, Recurrent respiratory infectio... OMIM:269840
Loeffler Endocarditis
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... ORPHA:75566
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed puberty, Elevated circulating l... OMIM:619665
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Inflammatory abnormality of the skin, Asthma, Skin rash, Decreas... OMIM:102700
Perrault Syndrome 4
Primary amenorrhea, Secondary amenorrhea, Premature ovarian insufficiency, Bicornuate uterus, Hyp... OMIM:615300
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myo... ORPHA:36234
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Exertional dyspnea, Increased circulating antibody level, Dyspne... OMIM:178500
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Recurrent bacterial infections, Agammaglobulinemia, Seborrheic dermatitis OMIM:619693
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Inflammatory abnormality of the eye, Pleural effusion, Airway obstruction, Mening... ORPHA:36412
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Sparse body hair, Hypogonadism, Short stature, Decreased testicular size, Hy... ORPHA:2234
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Abnormality of serum cyt... ORPHA:464343
Lysinuric Protein Intolerance
Respiratory insufficiency, Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia... ORPHA:470
Halothane Hepatitis
Eosinophilia OMIM:234350
Multiple Myeloma
Decreased circulating antibody level, Acute kidney injury, Nephrotic syndrome, Abnormality of the... ORPHA:29073
Cornelia De Lange Syndrome
Toe syndactyly, Synophrys, Hypoplastic labia majora, Hip dislocation, Elbow dislocation, Pectus e... ORPHA:199
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level OMIM:233650
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Flexion contracture, Nephrotic syndrome, Enlarged kidney, Recurrent bronch... OMIM:617303
Primary Membranoproliferative Glomerulonephritis
Decreased circulating complement C3 concentration, Renal insufficiency, Nephrotic syndrome, Acute... ORPHA:54370
Perrault Syndrome 3
Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... OMIM:614129
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Short stature, Developmental cataract, Failure to thrive, Delayed puberty, Psoriasiform dermatiti... OMIM:616834
Complement Component C1S Deficiency
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis OMIM:613783
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash, Vasculitis in the skin ORPHA:90000
Agammaglobulinemia 7, Autosomal Recessive
Panhypogammaglobulinemia, Recurrent respiratory infections, Erythema nodosum, Recurrent infection... OMIM:615214
Lymphoproliferative Syndrome 1
Persistent EBV viremia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Autoimmun... OMIM:613011
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... ORPHA:567548
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Rheumatoid factor positive, Pro... ORPHA:85435
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Recurrent respiratory infections, Chronic oral candidiasis, Th... OMIM:606367
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Kid Syndrome
Coxa valga, Corneal erosion, Acne inversa, Keratoconjunctivitis sicca, Punctate keratitis, Recurr... ORPHA:477
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis OMIM:615468
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... OMIM:601495
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Limitation of joint mobility, M... ORPHA:69126
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Decreased circulating antibody level, Hyperhomocystinemia, Autoimmunity, Eczema... OMIM:617780
Igg4-Related Retroperitoneal Fibrosis
Large vessel vasculitis, Psoriasiform dermatitis, Membranous nephropathy, Acute kidney injury, De... ORPHA:49041
Immunodeficiency 92
Osteomyelitis, Recurrent oral herpes, Sclerosing cholangitis, Esophagitis, Cholangitis, BCGosis, ... OMIM:619652
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... OMIM:619924
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Corneal opacity, Curly ey... OMIM:602400
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis OMIM:616069
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Asthma, Hypoxemia, Autoimmunity, Pleural effusion, Crackles, Nonproductive cou... ORPHA:2902
Xeroderma Pigmentosum
Alopecia, Entropion, Hypogonadism, Short stature, Decreased testicular size, Ankyloblepharon, Pte... ORPHA:910
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... OMIM:614837
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... OMIM:226990
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Patchy alopecia, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Bicornuate uterus, Azoospermia, Low posterior hairline, Abnormal rib morphology, A... ORPHA:2578
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr... OMIM:313900
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Recurrent respiratory infections, Functional abnormality of the... ORPHA:2571
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Extrapulmonary tuberculosis, Nephrotic syndrome,... OMIM:619644
Amed Syndrome, Digenic
Short stature, Failure to thrive, Telecanthus, Long thumb, Hypoplasia of the uterus OMIM:619151
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
Eec Syndrome
Hypoplasia of the thymus, Corneal erosion, Toe syndactyly, Anterior hypopituitarism, Inflammatory... ORPHA:1896
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circulating IgM level, Pneu... OMIM:242860
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Kimura Disease
Eosinophilia ORPHA:482
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunodeficiency 15B
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Decreased ci... OMIM:615592
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Pneumocystosis
Respiratory insufficiency, Chronic oral candidiasis, Exertional dyspnea, Increased circulating an... ORPHA:723
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Hypoplasia of the uterus, Decreased fertility, Sparse body hair, Enlarged pol... ORPHA:90796
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... OMIM:609441
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... OMIM:613860
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level OMIM:616395
Hyperprolactinemia
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea OMIM:615555
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level, Interstitial pneumonitis, Neutropenia in presence of anti-n... OMIM:615952
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Mosaic Trisomy 14
Camptodactyly of finger, Blepharophimosis, Narrow chest, Hypoplasia of penis, Failure to thrive, ... ORPHA:1703
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Cinca Syndrome
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema OMIM:607115
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
Immunodeficiency 97 With Autoinflammation
Enterocolitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurrent u... OMIM:619802
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Scleritis, Cytoplasmic antineutrophil antibody positivity, Glomerulo... ORPHA:93126
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 37
Infectious encephalitis, Colitis, Recurrent infections, Decreased circulating antibody level OMIM:616098
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent respiratory infections, Recurrent infections OMIM:614102
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Dyskeratosis Congenita
Alopecia, Abnormal eyebrow morphology, Abnormal testis morphology, Premature graying of hair, Sho... ORPHA:1775
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Fair hair, Blue irides, Sparse eyelashes, Ectrodactyly, Blepharophimosis, Sparse ... OMIM:604292
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Subacute Inflammatory Demyelinating Polyneuropathy
Severe infection, Limitation of movement at ankles, Limited hip movement, Limited elbow flexion, ... ORPHA:206594
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... ORPHA:85410
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Fair hair, Blue irides, Sparse eyelashes, Sparse hair, Telecanthus, Blepharophimo... OMIM:129900
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Enlarged kidney, Recurrent infections OMIM:615285
Sneddon Syndrome
Ischemic stroke, Decreased circulating total IgM, Cerebral hemorrhage, Hypertension, Antiphosphol... OMIM:182410
Flotch Syndrome
Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyelash morphology, Spa... ORPHA:2045
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Hip osteoarthritis, Autoimmunity, Abnormality of the wrist, Limitation of jo... ORPHA:2619
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Reduced natural killer c... ORPHA:540
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Ecz... ORPHA:2273
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... ORPHA:79078
Complete Androgen Insensitivity Syndrome
Sparse axillary hair, Bilateral cryptorchidism, Sparse pubic hair, Absent axillary hair, Aplasia ... ORPHA:99429
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Hypertrophic cardiomyopathy, Airway obstruction, Bone marrow hypocellularity... ORPHA:505248
Roifman Syndrome
Ventricular septal defect, Retinal dystrophy, Noncompaction cardiomyopathy, Prominent eyelashes, ... OMIM:616651
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nod... OMIM:300635
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... OMIM:607676
Tularemia
Conjunctivitis, Brain abscess, Erythema nodosum, Increased circulating antibody level, Skin rash,... ORPHA:3392
Psoriasis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of the knee, Generalized morning st... ORPHA:85436
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Decreased fert... ORPHA:572333
Mu-Heavy Chain Disease
Increased circulating antibody level, Osteolysis, Nephropathy, Bence Jones Proteinuria, Osteoporosis ORPHA:100024
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Prolidase Deficiency
Crusting erythematous dermatitis, Increased circulating antibody level, Asthma, Eczema, Recurrent... OMIM:170100
Hemorrhagic Fever-Renal Syndrome
Hypotension, Acute tubulointerstitial nephritis, Pleural effusion, Glomerulonephritis, Shock, Pal... ORPHA:340
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Lack of T cell function, Decreased circulating total IgM, Dec... ORPHA:35078
Peeling Skin Syndrome 1
Nail dystrophy, Eosinophilia, Brittle hair OMIM:270300
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Estrogen Resistance
Breast aplasia, Delayed puberty, Polycystic ovaries, Primary amenorrhea, Acne, Hypoplasia of the ... OMIM:615363
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Agammaglobulinemi... ORPHA:33110
Acrodermatitis Enteropathica
Conjunctivitis, Alopecia, Abnormal eyebrow morphology, Abnormal eyelid morphology, Corneal erosio... ORPHA:37
Systemic Sclerosis
Osteolytic defects of the phalanges of the hand, Flexion contracture, Elevated circulating creati... ORPHA:90291
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Coccidioidomycosis
Unusual CNS infection, Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Oste... ORPHA:228123
X-Linked Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Autoimmunity, Recurrent cutaneous... ORPHA:47
Androgen Insensitivity Syndrome
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, In... ORPHA:754
Systemic Lupus Erythematosus 17
Malar rash, Decreased circulating complement C3 concentration, Myelitis, Raynaud phenomenon, Anti... OMIM:301080
Poikiloderma With Neutropenia
Conjunctivitis, Sparse eyebrow, Sparse lateral eyebrow, Short stature, Skin rash, Recurrent sinus... OMIM:604173
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Cherubism
Macular scar, Optic neuropathy, Marcus Gunn pupil OMIM:118400
Tempi Syndrome
Telangiectasia, Abnormality of the kidney, Hypoxemia, Intracranial hemorrhage, Transudative pleur... ORPHA:284227
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating total IgM, Cerebral hemorrhage, Decreased circulating antibo... OMIM:301081
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia OMIM:618092
Cystic Echinococcosis
Invasive parasitic infection, Increased circulating antibody level, Asthma, Hyperbilirubinemia, U... ORPHA:400
Autosomal Dominant Spondylocostal Dysostosis
Upslanted palpebral fissure, Short thorax, Missing ribs, Posterior rib fusion, Spina bifida occul... ORPHA:1797
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Short stature,... ORPHA:3082
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... OMIM:137920
Immunodeficiency 46
Conjunctivitis, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopul... OMIM:616740
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumocystis jirovecii pn... OMIM:615206
Renpenning Syndrome
Alopecia, Upslanted palpebral fissure, Epicanthus, Decreased testicular size, Thin eyebrow, Cache... ORPHA:3242
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse scalp hair, Eczema, Sparse eyelashes, Blepharitis, Sparse hair, Slow-gro... OMIM:618535
Pyoderma Gangrenosum
Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammation of the large i... ORPHA:48104
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Thymic Tumor
Cardiac arrest, Autoimmunity, Pericarditis, Cough, Dyspnea, Dysgammaglobulinemia ORPHA:100100
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... OMIM:273250
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Recurr... OMIM:301078
Aromatase Deficiency
Genu valgum, Enlarged polycystic ovaries, Ambiguous genitalia, female, Eunuchoid habitus, Female ... ORPHA:91
Rift Valley Fever
Retinal hemorrhage, Hepatitis, Skin rash, Hematuria, Severe viral infection, Uveitis, Increased c... ORPHA:319251
Chromosome 16Q22 Deletion Syndrome
Short palpebral fissure, Epicanthus, Small for gestational age, Hip dysplasia, Blepharophimosis, ... OMIM:614541
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:444463
Roifman Syndrome
Retinal dystrophy, Noncompaction cardiomyopathy, Prominent eyelashes, Hepatosplenomegaly, Eosinop... ORPHA:353298
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Increased circulating in... OMIM:256040
10Q22.3Q23.3 Microduplication Syndrome
Upslanted palpebral fissure, Ambiguous genitalia, Hypospadias, Abnormal clavicle morphology, Abno... ORPHA:276422
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Wolff-... OMIM:619705
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Autoinflammatory-Pancytopenia Syndrome
Severe Epstein Barr virus infection, Arthropathy, Chilblains, Membranoproliferative glomeruloneph... OMIM:619858
Ifap Syndrome 2
Angular cheilitis, Keratoconjunctivitis sicca, Cataract, Keratitis, Sparse hair, Nail dystrophy, ... OMIM:619016
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatit... OMIM:609536
Q Fever
Cryoglobulinemia, Lupus anticoagulant, Pericarditis, Pleural effusion, Abnormal left ventricular ... ORPHA:781
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Hypertensi... ORPHA:567546
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Joint laxity, Chronic kidney disease ORPHA:2172
Omenn Syndrome
Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly, Eosinophilia, Leukocytosis, Sp... ORPHA:39041
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... ORPHA:656
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Sweet Syndrome
Oligoarthritis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis ... ORPHA:3243
Adult-Onset Nemaline Myopathy
Flexion contracture, Dilated cardiomyopathy, Mildly elevated creatine kinase, Paraproteinemia, Re... ORPHA:171442
Drug-Induced Lupus Erythematosus
Malar rash, Decreased circulating complement C3 concentration, Hematuria, Lupus anticoagulant, Au... ORPHA:231111
Cornelia De Lange Syndrome 5
Small hand, Hypogonadism, Short stature, Decreased testicular size, Toe syndactyly, Synophrys, Cl... OMIM:300882
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Myeloma, Multiple
Paraproteinemia OMIM:254500
Omenn Syndrome
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hepatome... OMIM:603554
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short palpebral fissure, Sparse scalp hair, Decreased response to growth hormone stimulation test... OMIM:615866
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Primary Sjögren Syndrome
Chronic active hepatitis, Keratoconjunctivitis sicca, Cryoglobulinemia, Polyarticular arthropathy... ORPHA:289390
Olmsted Syndrome, X-Linked
Blepharitis, Alopecia totalis, Posterior blepharitis OMIM:300918
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
46,Xy Sex Reversal 4
Distal symphalangism, Sex reversal, Hypoplastic labia majora, Agonadism, Recurrent otitis media, ... OMIM:154230
Myoectodermal Gonadal Dysgenesis Syndrome
Epicanthus, Hypoplastic labia majora, Limited elbow extension, Short palm, Hypoplasia of the uter... OMIM:618419
Netherton Syndrome
Aminoaciduria, Decreased circulating antibody level, Asthma, Skin rash, Eczema, Emphysema, Ectopi... ORPHA:634
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Decreased circulating total IgM, Decreased lymphocyte proliferation in ... ORPHA:221139
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism, Superior rib anomalies OMIM:307500
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Blepharitis, Pustule, Erythroderma OMIM:614328
Lymphoid Interstitial Pneumonia
Bronchiectasis, Rheumatoid arthritis, Skin rash, Enlarged kidney, Keratoconjunctivitis sicca, Ray... ORPHA:79128
Riddle Syndrome
Telangiectasia, Enuresis nocturna, Decreased circulating total IgM, Arthritis, Neonatal asphyxia,... ORPHA:420741
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia ORPHA:99965
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Asthma, Colonic eosinophilia, Recurrent viral infections, Atopic dermatitis, ... OMIM:618999
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... OMIM:618108
Meckel Syndrome 12
Arrhinencephaly, Arthrogryposis multiplex congenita, Antecubital pterygium, Vaginal atresia, Intr... OMIM:616258
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ambiguous genitalia, Rhizomelia, Narrow chest, Cataract, Abnormal clavicle morpholog... ORPHA:93267
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:611926
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly of the 5th finger, Congenital d... ORPHA:2141
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Autoimmune thrombocytopeni... OMIM:619846
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly... ORPHA:2319
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... ORPHA:163934
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tapered finger, Small hand, Short foot, Epicanthus, Fair hair, Synophrys, Recurrent aspiration pn... ORPHA:280633
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, Severe varicella zoster infection, Bronchiectasis, Impaired neutrophil che... OMIM:618986
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... ORPHA:563
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Restric... OMIM:614376
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Decreased circulating antibody level, Hypoproteinemia, Recurrent infections, ... OMIM:226300
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Lymphatic Filariasis
Lymphadenitis, Opportunistic infection, Nephrotic syndrome, Abnormality of the kidney, Opportunis... ORPHA:2035
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level, Functional abnormality of the ... DECIPHER:45
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Hypoplasia of penis, Cataract, Disproportionate short-limb short stature, Cr... ORPHA:2772
Immunodeficiency 56
Panhypogammaglobulinemia, Bronchiectasis, Chronic hepatitis due to cryptosporidium infection, Pne... OMIM:615207
Aspergillosis
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Pneumonia, Abnormality on pu... ORPHA:1163
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Idiopathic Bronchiectasis