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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
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Glomerular scle... ORPHA:247691
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve... ORPHA:261222
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... ORPHA:85435
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Stage 5 chronic kidney disease, ... OMIM:242900
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... OMIM:232240
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
C1Q Deficiency 2
Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Atelectasis, Bronchiectasis, Seps... OMIM:620321
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Mu-Heavy Chain Disease
Nephropathy, Increased circulating antibody level, Bence Jones Proteinuria ORPHA:100024
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin rash, Elevated c... OMIM:615934
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Unusual skin infection... ORPHA:31202
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Proteinuria, Autoimmunity, Pneumonia, Skin rash, Abnorm... ORPHA:2298
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Skin rash, Uveitis,... ORPHA:36412
Boutonneuse Fever
Renal insufficiency, Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increas... ORPHA:83313
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... OMIM:616026
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum... ORPHA:340
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis OMIM:616871
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... ORPHA:221139
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... ORPHA:97362
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... OMIM:154230
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration OMIM:616239
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Bronchiectasis, Recurrent infections ORPHA:477814
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ... ORPHA:2035
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular... OMIM:613404
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, Ab... ORPHA:29073
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... ORPHA:178320
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Circulating immune complexes, ... ORPHA:91138
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... ORPHA:91500
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Brucellosis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Knee osteoarth... ORPHA:1304
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Functional abnormality of the bladder ORPHA:2571
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Galactosemia I
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... OMIM:230400
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Cystic Echinococcosis
Membranous nephropathy, Hyperbilirubinemia, Renal cyst, Increased circulating antibody level ORPHA:400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... OMIM:619824
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity ORPHA:98827
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Autoimmunity, Abnormality of the kidney, Cholangitis, Increased circulating ... ORPHA:449432
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasi... OMIM:613490
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... OMIM:608233
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic... OMIM:242860
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... OMIM:301000
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Abnormality of the kidney ORPHA:369
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Enlarged kidney OMIM:615285
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Autoimmunity, Sinusitis, Increased in... ORPHA:183
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen... ORPHA:289390
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respi... OMIM:620296
Orthostatic Hypotension 1
Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Proteinuria, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, A... ORPHA:1855
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... ORPHA:230
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Recurrent skin infections, Joint stiffness, Reduced bone mineral density, Decr... OMIM:620210
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... OMIM:203800
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul... ORPHA:411703
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... ORPHA:358
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria ORPHA:90035
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Majeed Syndrome
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ... ORPHA:77297
Glycogen Storage Disease Vii
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... OMIM:232800
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... OMIM:612541
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nitrogen ORPHA:90321
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... OMIM:612387
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... OMIM:615767
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythroderma, Abnormal ... ORPHA:39041
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia ORPHA:57
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditi... ORPHA:549
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 leve... ORPHA:449427
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Lymphadenitis, Acute kidney injury, Proteinuria OMIM:618886
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Tempi Syndrome
Increased circulating IgG level, Abnormality of the kidney ORPHA:284227
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... ORPHA:542323
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia, Abnorm... ORPHA:420741
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... ORPHA:64744
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... ORPHA:85443
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of complement sy... ORPHA:79086
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia ORPHA:713
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein concentration,... OMIM:613011
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... OMIM:619381
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Immunodeficiency 22
Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ... OMIM:615758
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Dyspnea, Atelectasis, C... ORPHA:2357
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... ORPHA:353298
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... OMIM:251000
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ... OMIM:614162
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A... OMIM:617053
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... ORPHA:31204
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... ORPHA:811
Melas
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... ORPHA:550
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Q Fever
Respiratory distress, Cholecystitis, Cough, Meningitis, Infectious encephalitis, Maculopapular ex... ORPHA:781
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Netherton Syndrome
Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod... ORPHA:634
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria ORPHA:330001
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... OMIM:308240
Prolidase Deficiency
Eczema, Hyperimidodipeptiduria, Recurrent pneumonia, Crusting erythematous dermatitis, Systemic l... OMIM:170100
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... OMIM:214500
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... OMIM:118450
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... ORPHA:227990
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... OMIM:208500
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... OMIM:613070
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Smooth... ORPHA:1018
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Recurrent bacterial ... OMIM:603903
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Autoimmunity, Elevated circu... ORPHA:900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H... ORPHA:263455
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia,... OMIM:212065
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis ORPHA:309288
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Tub... ORPHA:139402
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g... ORPHA:505248
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen... ORPHA:227982
Cystinosis, Nephropathic
Hyponatremia, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypomagnesemia, Stag... OMIM:219800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... ORPHA:556
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... OMIM:614227
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Rift Valley Fever
Skin rash, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Increased circulating ... ORPHA:319251
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... OMIM:617595
Immunodeficiency 7
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... OMIM:277900
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... OMIM:201475
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Decreased serum iron, Chronic oral candidiasis OMIM:212050
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... ORPHA:85414
Coccidioidomycosis
Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Skin rash... ORPHA:228123
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... ORPHA:761
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent viral i... ORPHA:293978
Gaucher Disease Type 1
Hematuria, Osteoarthritis, Proteinuria, Increased circulating antibody level ORPHA:77259
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Renal insufficiency, Mild proteinuria OMIM:619147
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Anemia, Impaired T cell function ORPHA:30
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis OMIM:614582
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Fabry Disease
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria OMIM:301500
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity OMIM:182410
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Systemic lupus erythematosus, Chronic ly... ORPHA:90033
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria OMIM:619685
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Igg4-Related Ophthalmic Disease
Sinusitis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Chol... ORPHA:449563
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... ORPHA:90038
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... ORPHA:342
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Myoglobinuria, Elevated circulating creatine ki... OMIM:609015
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Recurrent bacterial infections, Inflammation o... OMIM:615895
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3... OMIM:251900
Vici Syndrome
Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Decreased circulating ... ORPHA:1493
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus ORPHA:90036
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c OMIM:619127
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar... OMIM:620233
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Increased circulating interleukin 6 concentration, Anuria, Pneumonia, Myocarditis, ... ORPHA:544482
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter ORPHA:3409
Ohdo Syndrome
Proteinuria OMIM:249620
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Proteinuria, Multiple bladder diverticula ORPHA:2728
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Autoimmunity, Elevated circulating C-reactive protein concentration, Increased... ORPHA:2902
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Chronic ... OMIM:301078
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib... OMIM:248500
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch... ORPHA:391487
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Chronic kidney disease, Increased circulating... ORPHA:330015
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Decreased circulating IgG2 level, Bronchiectasis, Acu... OMIM:208900
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
Osteootohepatoenteric Syndrome
Hypokalemia, Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration OMIM:619377
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:66628
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Hypoalbuminemia OMIM:610965
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Shigellosis
Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Sepsis, Uveitis, Ulcer... ORPHA:810
Encephalitis Lethargica
Autoimmunity, Urinary incontinence, Increased circulating antibody level ORPHA:83600
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... OMIM:619525
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concen... OMIM:256040
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:179494
Ogden Syndrome
Global glomerulosclerosis, Eczema, Hyperbilirubinemia, Polycystic kidney dysplasia, Recurrent oti... OMIM:300855
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... OMIM:275350
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Dyspnea, Iridocyclitis, Bronchiecta... OMIM:181000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Hepatitis, Increased circulating ferritin concentration OMIM:194380
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... OMIM:616878
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... ORPHA:324
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Autoimmune antibody positivity, Renal tubular ... ORPHA:99885
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Hypersplenism, Anti-thyroid peroxidase antibody positivity, Neutropen... ORPHA:228426
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... ORPHA:534
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... OMIM:256500
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration, Erythema nod... ORPHA:99827
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Elevated circulating ... ORPHA:90003
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... OMIM:122470
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemia, Micropenis, Decr... OMIM:607143
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased... ORPHA:297
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Recurrent bronchitis,... OMIM:251260
Primary Biliary Cholangitis
Autoimmunity, Increased circulating IgA level, Conjugated hyperbilirubinemia, Antinuclear antibod... ORPHA:186
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,... ORPHA:79240
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, R... OMIM:260920
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration... OMIM:214100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Gaucher Disease Type 3
Hematuria, Proteinuria, Increased circulating antibody level ORPHA:77261
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Lassa Fever
Increased circulating IgM level, Conjunctivitis, Oliguria ORPHA:99824
Agel Amyloidosis
Keratoconjunctivitis sicca, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Alg12-Cdg
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... ORPHA:79324
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Micropenis, Proteinuria, Pancreatitis OMIM:619471
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Leishmaniasis
Rhinitis, Hypoalbuminemia, Increased circulating antibody level ORPHA:507
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,... ORPHA:264580
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Glycogen Storage Disease Xii
Elevated circulating creatine kinase concentration, Hemoglobinuria, Cholecystitis, Hyperbilirubin... OMIM:611881
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegal... OMIM:615846
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Gaucher Disease, Type Ii
Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm... OMIM:230900
Pearson Syndrome
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Hypophosphatemia, H... ORPHA:699
Myasthenia Gravis
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... ORPHA:589
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis ORPHA:35858
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating total IgM, Hypoalbuminemia, Hypocalce... ORPHA:90362
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Arthriti... ORPHA:2331
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscula... OMIM:127550
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Recurrent candida infections OMIM:201100
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ... ORPHA:171
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin concentration, De... ORPHA:90363
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating IgA level... OMIM:617099
Caffey Disease
Increased circulating antibody level ORPHA:1310
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Arthritis, Panniculitis, Conjunctivitis, In... OMIM:617591
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Hepatitis, Camptodactyly, Limited elbow extension, Hashimoto thyroiditis, Decreased... OMIM:613385
Gaucher Disease
Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concentration, Osteoarthritis... ORPHA:355
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:603467
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Congenital Disorder Of Glycosylation, Type Iib
Recurrent fractures, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Eczema, Elbow contracture, Allergic rhinitis, Knee flexion contract... OMIM:618162
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... ORPHA:354
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, Decreased circulating IgG le... OMIM:612301
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis ORPHA:2750
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Recurrent pneumonia, Horseshoe kidney, Decreased circulating ant... ORPHA:508533
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... ORPHA:86816
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, In... ORPHA:68
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Celiac Disease, Susceptibility To, 1
Eczema, Rickets, Osteoporosis, Thyroiditis, Recurrent aphthous stomatitis, Stomatitis, Decreased ... OMIM:212750
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Abnormality of the urinary system, Proteinuria ORPHA:2162
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... ORPHA:309282
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... ORPHA:99829
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis ORPHA:90348
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Velocardiofacial Syndrome
Pulmonary artery atresia, Recurrent infections, Impaired T cell function, Unilateral primary pulm... OMIM:192430
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Alveolar Echinococcosis
Cholangitis, Renal cyst, Increased circulating antibody level, Abnormal bladder morphology, Cutan... ORPHA:284
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Marburg Hemorrhagic Fever
Renal insufficiency, Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase ... ORPHA:99826
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function, Recurrent viral infections OMIM:176690
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Alström Syndrome
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... ORPHA:64
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Cockayne Syndrome B
Renal insufficiency, Micropenis, Proteinuria OMIM:133540
Cockayne Syndrome A
Renal insufficiency, Micropenis, Proteinuria OMIM:216400
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Flexion contracture, Osteoporosis, Recurrent pneumonia, Decreased circulating IgA level OMIM:613327
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Increased circulating antibody level ORPHA:319218
Dubowitz Syndrome
Hypospadias, Eczema, Otitis media, Hypocholesterolemia, Decreased circulating IgG level, Decrease... OMIM:223370
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased c... OMIM:210900
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:253200
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Meni... ORPHA:707
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Renal hypoplasia, Decreased cir... OMIM:620005
Chops Syndrome
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... OMIM:616368
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Degcags Syndrome
Pancytopenia, Chronic lung disease, Recurrent urinary tract infections, Pneumonia, Congenital hyp... OMIM:619488
Viss Syndrome
Chronic gastritis, Eczema, Increased circulating IgE level, Atopic dermatitis, Increased circulat... OMIM:619472
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli... ORPHA:581
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Joint hypermobility, Decreased circulating IgA level, Decreased ... OMIM:617062
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Cranioectodermal Dysplasia 1
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:218330
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma OMIM:601675
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... ORPHA:3132
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Hashimoto thyroiditis, Aplasia of the thymus OMIM:618223
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria OMIM:124000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Decreased circulating total IgM, Joint hypermobility, Decreased cir... ORPHA:369837
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Thrombocytopenia, Splen... OMIM:619991
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Atelectasis, Chronic pulmona... OMIM:188400
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio... ORPHA:79329
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia ORPHA:99027
Monosomy 18Q
Joint hypermobility, Decreased circulating IgA level ORPHA:1600
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Recurrent Staphylococcus aureus infections, Septic arthritis, ... ORPHA:642
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Aspiration pneumonia OMIM:301072
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Tay-Sachs Disease
Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections ORPHA:1465
Sarcoidosis
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Nephrolithiasis, H... ORPHA:797
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Atelectasis, Asthma, Abnorma... ORPHA:567
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353281
Pmm2-Cdg
Pericarditis, Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Multiple renal ... ORPHA:79318
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Contractu... ORPHA:83617
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypoplasia of the thymus, Pneumonia OMIM:264090
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bilateral renal dysplasia, Unilateral renal agenesis, Secretory IgA deficiency, Horseshoe kidney,... ORPHA:500150
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level OMIM:271510
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia ORPHA:438213
Doors Syndrome
Respiratory distress, Thrombocytosis, Aspiration pneumonia ORPHA:79500
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340

Histopathology

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

There is no histopathology data for Cd1d1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cd1d1.

No publications found that use IMPC mice or data for Cd1d1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cd1d1em1(IMPC)H Indel Mice
Cd1d1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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