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Gene: Cd1d1 MGI:107674

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Gene Summary

Name:
CD1d1 antigen
Synonyms:
Cd1d,  Ly-38,  Cd1a,  CD1.1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Cd1d1em1(IMPC)H HOM   Early adult 4.34×10-06
decreased red blood cell distribution width Cd1d1em1(IMPC)H HOM Early adult 1.24×10-05
increased circulating amylase level Cd1d1em1(IMPC)H HOM Early adult 1.93×10-05

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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 Cd1d1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cd1d1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy... OMIM:617006
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 24
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased ... OMIM:615897
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme... OMIM:614380
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Immune Thrombocytopenia
Platelet antibody positive, Thrombocytopenia OMIM:188030
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:608709
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... OMIM:613860
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... OMIM:607271
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... OMIM:601457
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulati... OMIM:615559
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... OMIM:240500
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... OMIM:616414
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... OMIM:617638
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, ... ORPHA:169160
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thyroiditis, Sy... OMIM:619375
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Drug-Induced Lupus Erythematosus
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... ORPHA:231111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... OMIM:616005
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... ORPHA:2137
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Mic... ORPHA:79087
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Glycoprotein Storage Disease
Gout OMIM:232900
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... OMIM:620282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... ORPHA:397596
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin... OMIM:619632
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increas... ORPHA:98813
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Immunodeficiency 102
Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Partial a... OMIM:301082
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anti-thyroid p... ORPHA:49041
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... OMIM:603909
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent up... ORPHA:277
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Recurrent pneumonia, Increased circ... OMIM:610163
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Renal intersti... ORPHA:449395
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B... OMIM:619126
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... OMIM:617575
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly,... OMIM:226990
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Increa... OMIM:618534
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, Leukocytosi... OMIM:619652
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... OMIM:601859
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c... OMIM:613179
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Elevated circulating C-reactive protein concentrat... ORPHA:449400
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Preeclampsia
Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidney disease, Elevated circulatin... ORPHA:275555
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatit... OMIM:304790
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains OMIM:619858
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,... ORPHA:158061
Thymoma
Myositis, Autoimmunity, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyt... ORPHA:99867
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis ORPHA:375
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Idiopathic Pulmonary Hemosiderosis
Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Autoimmune antib... ORPHA:99931
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... OMIM:606367
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumon... OMIM:618495
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... OMIM:147060
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... OMIM:613845
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:614652
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Dec... OMIM:102700
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... ORPHA:48435
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Antiphospholipid antibody positivity, Proteinuria, Myositis, Ski... ORPHA:93552
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr... OMIM:123550
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... OMIM:607426
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid lupus rash, Anti-L... ORPHA:536
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... OMIM:615207
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening... ORPHA:464370
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Proteinuria, Autoimmunity, Anti... ORPHA:90060
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Amyloidosis, Familial Visceral
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Schimke Immuno-Osseous Dysplasia
Proteinuria, Autoimmunity, Impaired T cell function, Minimal change glomerulonephritis, Abnormal ... ORPHA:1830
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Alopecia Areata 1
Autoimmunity OMIM:104000
Transcobalamin Deficiency
Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De... ORPHA:859
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, M... ORPHA:540
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de... OMIM:616100
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Atopic dermatitis, Colonic eosinophilia, Membranous nephropathy OMIM:618999
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Increased circulating IgG... OMIM:209950
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... OMIM:620010
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic rhinitis, Eczema, ... OMIM:615816
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremic syndrome, Hyper... OMIM:235400
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated ... OMIM:619644
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Increased circu... ORPHA:69126
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... OMIM:607944
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent upper respiratory t... OMIM:619752
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Proteinuria, Elevated circulating C-reactive p... OMIM:614034
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Increas... OMIM:617303
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell... OMIM:620044
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... OMIM:612840
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... OMIM:232200
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt... ORPHA:3392
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R... OMIM:306400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level OMIM:215250
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Aspergillosis
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Meningitis, Chronic pulmonary obstruction... ORPHA:1163
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic... OMIM:616433
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurrent upper respiratory tract i... OMIM:602450
Myh9-Related Disease
Nephropathy, Renal insufficiency, Proteinuria, Nephritis ORPHA:182050
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Glomerulonephritis, Elevated ... ORPHA:36234
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... OMIM:619487
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... OMIM:232220
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El... ORPHA:90291
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Arima Syndrome