Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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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.

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
Mental Retardation, Autosomal Dominant 52
Cryptorchidism OMIM:617796
Autosomal Dominant Non-Syndromic Intellectual Disability
Short stature ORPHA:178469

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
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, Recurrent oral herpes, Recu... OMIM:619220
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Recurrent bacterial infections, Hydronephrosis, Decreased specific pneumoc... OMIM:613496
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Decreased serum complement fact... OMIM:613652
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Bronchiectasis, Incr... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum... OMIM:613779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Rheumatoid fact... OMIM:619632
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... OMIM:617006
C3 Glomerulopathy
Hypertension, Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum c... ORPHA:329918
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... OMIM:300310
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Increased circulating antibody level, Recurrent infections, Increased al... OMIM:235900
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent infections, Elevated circulating C-reactive protein concentration, Persis... OMIM:615559
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis OMIM:619549
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Decreased lymphocyte apoptosis, Increased circulating IgA level, Neut... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Recurrent ear infections, Bronchiectasis, Recurre... OMIM:615513
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Recurrent sinopulmonary infections, Recurrent infe... OMIM:609529
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Recurrent urinary tract infections, Increased circulating a... OMIM:618495
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Hematuria OMIM:314000
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased ... ORPHA:567544
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level, Asthma OMIM:208600
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Postinfectious Vasculitis
Severe varicella zoster infection, Rheumatoid factor positive, Raynaud phenomenon, Recurrent cand... ORPHA:48435
Autoimmune Lymphoproliferative Syndrome, Type Iia
Platelet antibody positive, Nephrotic syndrome, Decreased lymphocyte apoptosis, Increased circula... OMIM:603909
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re... OMIM:613502
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... OMIM:618944
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Autoimmunity, Impaired T cell function, Decreased circulating IgA... OMIM:240500
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency OMIM:216950
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Hyoplasia of the Leydig cells, Abnormal... ORPHA:755
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Pustule, Myositis, Increased circulating IgA level, Tachypnea, Recurrent infectio... OMIM:615934
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Increa... OMIM:618982
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Complement Component 6 Deficiency
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... OMIM:612446
Complement Component 4A Deficiency
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... OMIM:614380
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Pneumonia, Impaired T cell function, Decreased circulating IgA le... OMIM:607594
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Pulmonary hemorrhage, Cough, Arthritis, Crescentic glomerulonephritis, Mesangial hyper... OMIM:616414
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Increased circulating IgA level, Recurrent viral infections, Decreased lymphocyte p... ORPHA:169154
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l... OMIM:615577
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Caspase 8 Deficiency
Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Complement Component 8 Deficiency, Type I
Meningitis, Systemic lupus erythematosus, Decreased serum complement C8 OMIM:613790
Complement Factor I Deficiency
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Decreased... OMIM:610984
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Rheumatoi... ORPHA:90280
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Simple Cryoglobulinemia
Rheumatoid factor positive, Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemo... ORPHA:91139
Complement Component 7 Deficiency
Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec... OMIM:617744
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Lack of T cell function, Recurrent herpes, Neutropenia in presence of an... ORPHA:572
Immunodeficiency 27A
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Rheumatoid factor positive,... OMIM:209950
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent viral infections, Decreased circulating a... ORPHA:169079
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Pulmonary insufficiency, Autoimmunity, Anti-thyroid peroxidase antibody positivity, In... ORPHA:277
Pulmonary Nodular Lymphoid Hyperplasia, Familial
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... OMIM:178610
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Decreas... OMIM:601495
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Polyarticular arthritis, Increased circulating IgA level, Antinuclear... OMIM:617388
Whim Syndrome 1
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul... OMIM:193670
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil an... ORPHA:2137
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Ovarian Dysgenesis 2
Secondary amenorrhea, Hirsutism, Abnormality of the uterus, Primary amenorrhea, Premature ovarian... OMIM:300510
Immunodeficiency 88
Eosinophilia OMIM:619630
Complement Factor D Deficiency
Complement deficiency, Recurrent bacterial infections OMIM:613912
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Recurrent fungal infections, Redu... OMIM:300400
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Pgm3-Cdg
Autoimmunity, Eczema, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Chronic otiti... ORPHA:443811
Satoyoshi Syndrome
Abnormality of the ovary, Genu varum, Abnormality of femur morphology, Abnormality of the knee, S... ORPHA:3130
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Sepsis, Recurrent herp... ORPHA:183675
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Recurrent infections, De... OMIM:608709
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Ring Chromosome Y Syndrome
Hypospadias, Bifid scrotum, Short stature, Abnormality of the male genitalia, Ambiguous genitalia... ORPHA:261529
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Insulin Autoimmune Syndrome
Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,... ORPHA:411593
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Sepsis, Bronchiectasis, Decreased circulating IgA level, Decreas... OMIM:616100
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Shield chest, Hirsutism, Frontal balding, S... ORPHA:247768
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 23
Eczema, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Increased circulati... OMIM:615816
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Selective Igm Deficiency
Autoimmunity, Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent her... ORPHA:331235
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ... ORPHA:276
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Recurrent bronchitis, Chronic ora... OMIM:613953
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Complement Factor H Deficiency
Recurrent bacterial infections, Decreased serum complement factor H, Hematuria, Depletion of comp... OMIM:609814
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Impaired mem... OMIM:308230
Immunodeficiency 36
Recurrent bacterial infections, Autoimmunity, Bronchiectasis, Decreased circulating antibody leve... OMIM:616005
Candidiasis, Familial, 2
Chronic oral candidiasis, Decreased serum iron, Chronic tinea infection, Onychomycosis, Increased... OMIM:212050
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... ORPHA:555905
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections OMIM:616911
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Recurrent herpes, Failure to thrive sec... ORPHA:169160
Schnitzler Syndrome
Arthritis, Vasculitis, Increased circulating IgM level, Increased bone mineral density, Skin rash ORPHA:37748
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media OMIM:312863
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Intrauterine growth retardation, Short stature, Chronic otitis media, Long... ORPHA:261279
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Recurrent infections, Decreased serum complement C3, Membranoproli... OMIM:613913
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Myocardial infarction, Increased inflammatory response, Autoimmune thrombocyto... ORPHA:3325
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Igg4-Related Aortitis
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... ORPHA:449400
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent infections, Decreased... OMIM:616452
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Erythroderma, Hepatitis, Arthritis,... OMIM:304790
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Anti-acetylcholine receptor antibody positivity,... ORPHA:99867
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Orthostatic hypotension, Abnormal circulating lipi... ORPHA:186
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Tu... ORPHA:37042
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 14B, Autosomal Recessive
Polyarticular arthritis, Inflammation of the large intestine, Decreased circulating IgA level, Re... OMIM:619281
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... ORPHA:1916
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Recurrent candida infections, Pneumonia OMIM:269840
Acute Lung Injury
Shock, Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Incre... ORPHA:178320
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... OMIM:209920
Immunodeficiency 50
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Recurrent respi... OMIM:300988
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma OMIM:147050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... OMIM:616576
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Autoimmunity, Decreased circulating IgA level, Lymphadenitis, Dec... ORPHA:331206
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosyn... OMIM:147060
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Recurrent viral infections, Onychomycosis, In... ORPHA:217390
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Rheumatoid factor ... ORPHA:3261
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... ORPHA:90283
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Circulating immune compl... OMIM:607665
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Ovarian Dysgenesis 5
Primary amenorrhea, Short stature, Hypoplasia of the uterus OMIM:617690
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent infection... OMIM:601457
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, 2-3 toe syndactyly, Sparse eyelashes, Ankyloblepharon, Nail dystrophy, Absent eyelas... OMIM:106260
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Increased circulating IgE l... OMIM:615767
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Thyroiditis, Recurrent respiratory inf... OMIM:619375
Thymic Aplasia
Sinusitis, Autoimmunity, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida in... ORPHA:83471
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Arthritis, Gastrointestinal hemorrhage, Vasculitis,... ORPHA:343
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positiv... ORPHA:90159
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Short stature, Abnormality of the elbow, Pectus carinatum, Synophrys, Epicanthus, Finger syndacty... ORPHA:3268
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:618987
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Panniculitis, Vasculitis, Increased circulating IgM level, Skin ... OMIM:617099
Wiskott-Aldrich Syndrome
Sepsis, Eczema, Inflammation of the large intestine, Recurrent herpes, Melena, Decreased circulat... OMIM:301000
Limb-Mammary Syndrome
Psoriasiform dermatitis, Aplasia of the uterus, Absent lacrimal punctum, Toe syndactyly, Hypoplas... ORPHA:69085
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Rheumatoid factor positive, Chronic kidney disease, Elevated circul... ORPHA:449395
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Systemic lupus erythematosus, Nephritis, Arthritis, Malar rash, An... OMIM:152700
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Hypouricemia, Recurrent bacterial infections, Recurrent opportunistic infections, Pneu... OMIM:613179
Boutonneuse Fever
Increased circulating IgG level, Vasculitis, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... OMIM:614878
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Decreased lymphocyte apoptosis, Recurrent infections, Increased circulating antibod... OMIM:614470
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections OMIM:615214
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal ... ORPHA:70578
Satoyoshi Syndrome
Short stature, Amenorrhea, Short metatarsal, Alopecia, Genu valgum, Short metacarpal, Alopecia un... OMIM:600705
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Sparse body hair, Hypogonadotropic hypogonadism, Hypoplasia of... ORPHA:432
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Kennerknecht Syndrome
Toe syndactyly, Omphalocele, Abnormal joint morphology, Short stature, Long eyelashes, Agonadism,... OMIM:600908
Hyper-Igd Syndrome
Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Recurrent infections, A... OMIM:260920
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Eczema, Decreased circulating antibody level, Recurrent infections, Septic arthriti... OMIM:617780
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Seckel Syndrome 7
Abnormality of the carpal bones, Intrauterine growth retardation, Severe short stature, Hip dyspl... OMIM:614851
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Craniosynostosis, Joint contracture of the hand, ... OMIM:618523
Transcobalamin Deficiency
Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... ORPHA:859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent bacterial infections, Pneumonia, Decreased circulating IgA level, Recurrent ... OMIM:102700
Moebius Syndrome
Abnormality of the ulna, Ptosis, Aplasia/Hypoplasia of the thumb, Hypogonadotropic hypogonadism, ... ORPHA:570
Diffuse Alveolar Hemorrhage
Hypoxemia, Autoimmunity, Antinuclear antibody positivity, Decreased serum complement C4, Elevated... ORPHA:90060
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Short stature, Hypergonadotropic hypogonadism OMIM:614129
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Clouston Syndrome
Fine hair, Sparse eyelashes, Short stature, Absent pubic hair, Brittle hair, Nail dystrophy, Alop... OMIM:129500
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections OMIM:618985
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Glomerulonephritis, Antineutrophil antibody positivity,... ORPHA:99931
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Recurrent infections, Skin rash OMIM:618048
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating IgA level, ... ORPHA:2442
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Uveitis, Decreased circulating... OMIM:614700
Immunodeficiency 52
Bronchiectasis, Decreased circulating antibody level, Recurrent infections, Autoimmune thrombocyt... OMIM:617514
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Scarring alopecia of scalp, Co... OMIM:308800
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Increased circulating IgG level, Increased circulati... ORPHA:74
Insulin-Resistance Syndrome Type B
Autoimmunity, Pneumonia, Increased circulating IgA level, Abnormal circulating lipid concentratio... ORPHA:2298
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ... OMIM:612843
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Highly arched eyebrow, Amenorrhea, Ptosis, Telecanthus, Sparse pubic hair, Increased... OMIM:110100
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Systemic lupus erythematosus, Hepatitis, Incre... ORPHA:158061
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Primary amenorrhea, Absent pu... OMIM:614841
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Lassa Fever
Shock, Sepsis, Cough, Oliguria, Increased circulating IgM level, Dyspnea, Conjunctivitis ORPHA:99824
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Decreased serum complement factor B, Meni... OMIM:615561
Complement Component C1S Deficiency
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis OMIM:613783
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Hyperlipidemia, Recurrent infections, Cerebral ischemia, Shallow acetabular fossae,... ORPHA:1830
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... ORPHA:70593
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... ORPHA:75566
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Psoriasiform dermatitis, Developmental cataract, Short stature, Failure to thrive, Blepharitis, D... OMIM:616834
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Renal tubular atrophy, Focal segmental glomerulosclerosis, Sepsis, N... OMIM:617303
Immunodeficiency 92
Cholangitis, Pneumonia, BCGosis, Decreased circulating IgA level, Recurrent oral herpes, Decrease... OMIM:619652
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Short finger, Disproportionate short-limb short stature, Shor... OMIM:609441
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Uveitis, Restrictive ventilatory defect, Emphysema, Conjunctivitis, Skin rash, Glom... ORPHA:36412
Primary Membranoproliferative Glomerulonephritis
Hypertension, C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease,... ORPHA:54370
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Cubitus valgus, Hypoplasia of the ovary, Increased circulat... OMIM:615300
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Increased circulating antibody level,... OMIM:178500
Cornelia De Lange Syndrome
Hypospadias, Abnormality of the ulna, Hypoplastic nipples, Short stature, Curly eyelashes, Proxim... ORPHA:199
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Increased circulating IgA level, Elevated ci... ORPHA:29073
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Halothane Hepatitis
Eosinophilia OMIM:234350
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Severe varicella zoster infectio... OMIM:606367
Zika Virus Disease
Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Meningitis, Increased circula... ORPHA:448237
Ovarian Dysgenesis 9
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Primary amenorr... OMIM:619665
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen... ORPHA:85435
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Lymphoproliferative Syndrome 1
Autoimmunity, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, ... OMIM:613011
Erythema Elevatum Diutinum
Increased circulating antibody level, Vasculitis in the skin, Skin rash ORPHA:90000
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis OMIM:615468
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Autoimmunity, Atopic dermatitis, Crackles, Increased circulating IgE level, ... ORPHA:2902
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Joint hemorrhage, Epistaxis, Increased circulating IgE l... OMIM:313900
Catastrophic Antiphospholipid Syndrome
Myocarditis, Anti-beta 2 glycoprotein I antibody positivity, Abnormality of serum cytokine level,... ORPHA:464343
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Recurrent resp... OMIM:241600
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... ORPHA:49041
Eec Syndrome
Hypospadias, Corneal erosion, Short stature, Aplasia/Hypoplasia of the thumb, Hypoplasia of the t... ORPHA:1896
Estrogen Resistance
Acne, Primary amenorrhea, Hypoplasia of the uterus OMIM:615363
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Alopecia, Anemia, Splenomegaly, Severe... OMIM:603554
Xeroderma Pigmentosum
Short stature, Ectropion, Failure to thrive, Ankyloblepharon, Conjunctival telangiectasia, Alopec... ORPHA:910
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Amed Syndrome, Digenic
Short stature, Failure to thrive, Telecanthus, Long thumb, Hypoplasia of the uterus OMIM:619151
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, BCGosis, Hemolytic-uremic syndrome, Pulmonary hemorrhage, Recurrent lower res... OMIM:619644
Kid Syndrome
Sparse eyelashes, Corneal erosion, Acne inversa, Limbal stem cell deficiency, Postnatal growth re... ORPHA:477
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Short stature, Azoospermia, Bicornuate uterus, Abnormal rib mor... ORPHA:2578
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... OMIM:242860
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Short stature, Elevated circulating follicle stimulating hormone level, Sparse pubic... ORPHA:90796
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Bicornuate uterus, Sprengel anomaly, Hypoplasia of the uterus OMIM:601076
Kimura Disease
Eosinophilia ORPHA:482
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig... ORPHA:2571
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Lichtenstein Syndrome
C1-C2 subluxation, Decreased circulating IgA level, Increased susceptibility to fractures, Osteop... OMIM:246550
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Premature Ovarian Failure 18
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ... OMIM:619203
Pauci-Immune Glomerulonephritis
Tubulointerstitial nephritis, Antinuclear antibody positivity, Decreased glomerular filtration ra... ORPHA:93126
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Polyarticular arthritis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Short stature, External genital hypoplasia, Epicanthus, Postnatal growth retardation, Dec... OMIM:612947
C3 Glomerulopathy 3
Hematuria, Glomerulonephritis, Renal insufficiency, Stage 5 chronic kidney disease OMIM:614809
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Short stature, Small scrotum, Eunuchoid habitus, Hypogonadi... ORPHA:2234
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyelashes, Hypoplastic nipples, Dacryocystitis, Sparse pubic hair, Micropenis, Sparse and ... OMIM:604292
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Corneal opacity, Sparse and thin eyebrow, Sparse hair, Blep... OMIM:602400
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Mosaic Trisomy 14
Hypospadias, Ptosis, Failure to thrive, Narrow chest, Abnormal rib morphology, Camptodactyly of f... ORPHA:1703
Cinca Syndrome
Leukocytosis, Anemia, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections, Colitis OMIM:616098
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Alopecia OMIM:618282
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Limitation of movement at ankles, Increased circulating IgG level, Limited... ORPHA:206594
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Rheumatoid arthritis, Uve... ORPHA:85410
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Brucellosis
Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Transient ischemi... ORPHA:1304
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Telecanthus, Femal... ORPHA:572333
Poikiloderma With Neutropenia
Short stature, Recurrent otitis media, Recurrent pneumonia, Blepharitis, Recurrent sinusitis, Con... OMIM:604173
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Recurrent respiratory infections, Conjunctivitis, Hypertrophic cardiomyopathy, Mitral reg... ORPHA:505248
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse eyelashes, Hypoplastic nipples, Dacryocystitis, Telecanthus, Sparse pubic hair, Micropenis... OMIM:129900
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Blepharitis, A... ORPHA:2045
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Eczema, Abnormal hair morphology, Thin eyebrow, Corneal erosion, Abnormal dental ena... ORPHA:2273
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, Pustule, Lack of T cell function, Recurrent op... ORPHA:35078
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Prominent eyelashes, Retin... OMIM:616651
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... ORPHA:540
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Psoriasis-Related Juvenile Idiopathic Arthritis
Autoimmunity, Psoriasiform dermatitis, Polyarticular arthritis, Abnormality of the knee, Oligoart... ORPHA:85436
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change... OMIM:616730
Prolidase Deficiency
Diffuse telangiectasia, Eczema, Systemic lupus erythematosus, Recurrent infections, Crusting eryt... OMIM:170100
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Pneumonia, Budd-Chiari syndrome, Decreased circulating antibody level, Recurrent... OMIM:226300
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... ORPHA:79078
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Osteoporosis, Increased circulating antibody level, Nephropathy, Osteolysis ORPHA:100024
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Sepsis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chron... ORPHA:47
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Respiratory failure, ... ORPHA:340
Thymic Tumor
Autoimmunity, Pericarditis, Cough, Dysgammaglobulinemia, Cardiac arrest, Dyspnea ORPHA:100100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Acrodermatitis Enteropathica
Pustule, Corneal erosion, Short stature, Cheilitis, Failure to thrive, Weight loss, Alopecia, Abn... ORPHA:37
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM ORPHA:2643
Dyskeratosis Congenita
Intrauterine growth retardation, Short stature, Abnormal morphology of female internal genitalia,... ORPHA:1775
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Hepatitis, Recurrent... ORPHA:33110
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Tularemia
Brain abscess, Pneumonia, Cough, Tachycardia, Respiratory distress, Increased circulating antibod... ORPHA:3392
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Increased circulating IgG level, Transudative... ORPHA:284227
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Raynaud phenomenon, Intestinal bleeding, Chronic... ORPHA:90291
Autosomal Dominant Spondylocostal Dysostosis
Intrauterine growth retardation, Abnormal morphology of female internal genitalia, Upslanted palp... ORPHA:1797
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Systemic lupus erythematosus, Hepatitis, Autoimmune thrombo... ORPHA:444463
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Gout, Bicornuat... OMIM:137920
Coccidioidomycosis
Vasospasm, Cerebral ischemia, Pleural empyema, Vasculitis, Unusual CNS infection, Morbilliform ra... ORPHA:228123
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Wells Syndrome
Eosinophilia ORPHA:901
Estrogen Resistance Syndrome
Acne, Delayed epiphyseal ossification, Increased circulating gonadotropin level, Primary amenorrh... ORPHA:785
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hernia of the abdominal wall, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyly... ORPHA:3082
Cystic Echinococcosis
Membranous nephropathy, Unusual infection, Renal cyst, Hyperbilirubinemia, Increased circulating ... ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8, Parotitis, Camptodactyly of finger, Elevated circulating C-r... OMIM:256040
Renpenning Syndrome
Hypospadias, Pectus excavatum, Cachexia, Thin eyebrow, Growth delay, Abnormal hair laboratory exa... ORPHA:3242
Aromatase Deficiency
Macroorchidism, postpubertal, Growth delay, Ambiguous genitalia, female, Delayed epiphyseal ossif... ORPHA:91
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Vasculitis, Nephrotic syndrome OMIM:615846
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Roifman Syndrome
Noncompaction cardiomyopathy, Prominent eyelashes, Retinal dystrophy, Hepatosplenomegaly, Eosinop... ORPHA:353298
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Elevate... OMIM:273250
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia ORPHA:99965
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Chronic otitis media, Upslanted palpebral fissure, Abnormal clavicle morphology, Amb... ORPHA:276422
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... OMIM:615633
Ifap Syndrome 2
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Angular cheilitis, Keratitis, Posterior ble... OMIM:619016
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Short stature, Premature ovarian insufficiency OMIM:619518
Q Fever
Myocarditis, Hepatitis, Rheumatoid factor positive, Vasculitis, Maculopapular exanthema, Abnormal... ORPHA:781
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Thin eyebrow OMIM:618092
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Decreased serum complement C4, ... ORPHA:231111
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Highly arched eyebrow, Growth delay, Small for gestational age, Failure to thrive, U... OMIM:614541
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Decreased circulating IgG level, Apnea, Recurrent in... OMIM:608809
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis, Joint laxity ORPHA:2172
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:251190
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circulating antib... OMIM:616740
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Decreased circulating antibody level, Raynaud phenomenon, Parotitis... ORPHA:289390
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity ORPHA:90003
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency, Joint laxity OMIM:248760
Membranoproliferative Glomerulonephritis, X-Linked
Cardiac shunt, Membranoproliferative glomerulonephritis OMIM:305800
Omenn Syndrome
Leukocytosis, Hepatomegaly, Eosinophilia, Alopecia, Abnormal lymphocyte morphology, Anemia, Splen... ORPHA:39041
Inclusion Body Myositis
Elevated circulating creatine kinase concentration, Autoimmunity ORPHA:611
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Renal tubular atrophy, Eczema, Focal segmental glomerulosclerosis, Minima... OMIM:618348
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Filippi Syndrome
Intrauterine growth retardation, Hypertrichosis, 2-4 toe syndactyly, Postnatal growth retardation... OMIM:272440
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Postnatal growth retardation, Short stature OMIM:616113
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Toe syndactyly, Hirsutism, Short stature, Ptosis, Low anterior hairline, T... OMIM:300882
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... ORPHA:567546
Olmsted Syndrome, X-Linked
Posterior blepharitis, Alopecia totalis, Blepharitis OMIM:300918
Sweet Syndrome
Dilated cardiomyopathy, Increased circulating interleukin 6, Inflammation of the large intestine,... ORPHA:3243
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse eyelashes, Blepharitis, Sparse body hair OMIM:618535
Rift Valley Fever
Infectious encephalitis, Hematuria, Hepatitis, Increased circulating IgG level, Melena, Uveitis, ... ORPHA:319251
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis medi... OMIM:300455
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Autoimmunity, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ... ORPHA:79128
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Recurrent infections,... ORPHA:634
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Psoriasiform dermatitis, Neonatal respiratory distress, Decreased... ORPHA:221139
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Mildly elevated creatin... ORPHA:171442
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Abnormal ... ORPHA:93267
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Riddle Syndrome
Telangiectasia, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Conj... ORPHA:420741
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Superior rib anomalies, Hypergonadotropic hypogonadism OMIM:307500
Juberg-Hayward Syndrome
Hypospadias, Highly arched eyebrow, Toe syndactyly, Intrauterine growth retardation, Abnormality ... ORPHA:2319
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Blepharitis, Erythroderma, Pustule OMIM:614328
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Recurrent viral infections, Coloni... OMIM:618999
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... ORPHA:163934
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Chronic pulmonary obstruction, Severe varicella zoster infection, Partial absence of spec... OMIM:618986
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... OMIM:615207
Felty Syndrome
Sinusitis, Autoimmunity, Sepsis, Pericarditis, Episcleritis, Synovitis, Abnormal joint morphology... ORPHA:47612
Warburg Micro Syndrome 3
Hypoplastic labia minora, Microcornea, Developmental cataract, Hypertrichosis, Shallow anterior c... OMIM:614222
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Autoimmunity,... ORPHA:563
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormal morphol... ORPHA:2141
Lymphatic Filariasis
Wheezing, Ankle swelling, Nephrotic syndrome, Lymphadenitis, Knee osteoarthritis, Epididymitis, H... ORPHA:2035
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Disproportionate short-limb short stature, Ambiguous genitalia, ... ORPHA:2772
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Chroni... OMIM:618108
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
Immunodeficiency 49
Eosinophilia, Hirsutism, Lymphopenia OMIM:617237
Systemic Lupus Erythematosus 16
Nephritis, Systemic lupus erythematosus OMIM:614420
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Joint hypermobility, Decreased circulating IgG level, Decreased ... OMIM:617062
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Partial Androgen Insensitivity Syndrome
Hypospadias, Abnormality of secondary sexual hair, Male sexual dysfunction, Aplasia of the uterus... ORPHA:90797
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... ORPHA:64744
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Vici Syndrome
Dilated cardiomyopathy, Recurrent bacterial infections, Recurrent fungal infections, Cutaneous an... OMIM:242840
Xq28 (MECP2) duplication
Decreased circulating IgA level, Functional abnormality of the bladder, Recurrent respiratory inf... DECIPHER:45
Aspergillosis
Sinusitis, Hepatitis, Unusual CNS infection, Chronic pulmonary obstruction, Infectious encephalit... ORPHA:1163
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Femoral-Facial Syndrome
Rib fusion, Long penis, Short stature, Upslanted palpebral fissure, Coxa vara, Sprengel anomaly, ... ORPHA:1988
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Lichen Planus Pemphigoides
Blepharitis, Conjunctivitis ORPHA:254478
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormality of the wrist, Increased circulating IgE level, Abnormality of the elbow ORPHA:89843
Dyskeratosis Congenita, X-Linked
Hypospadias, Sparse eyelashes, Intrauterine growth retardation, Short stature, Urethral stenosis,... OMIM:305000
Preeclampsia
Hypertension, Autoimmunity, Elevated diastolic blood pressure, Helicobacter pylori infection, Ele... ORPHA:275555
Three M Syndrome 1
Hypospadias, Pectus excavatum, Intrauterine growth retardation, Growth delay, Short stature, Smal... OMIM:273750
Alopecia Areata 1
Autoimmunity OMIM:104000
Yellow Fever
Shock, Increased circulating interleukin 6, Reduced ejection fraction, Elevated circulating creat... ORPHA:99829
Netherton Syndrome
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Recurrent infections, Increased... OMIM:256500
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Generalized bone demineralization, Nephrotic syndrome, Decreased circulati... OMIM:215250
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Autoimmunity, D... ORPHA:90363
Igg4-Related Submandibular Gland Disease
Autoimmunity, Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating I... ORPHA:449432
Acquired Partial Lipodystrophy
Autoimmunity, Microscopic hematuria, Decreased serum complement C3, Glomerulopathy, Proteinuria ORPHA:79087
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Joint st... ORPHA:1345
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Men... ORPHA:229717
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Recurrent staphyloco... ORPHA:2968
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Autoimmunity, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasi... ORPHA:1303
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis