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Gene: Cxcr3 MGI:1277207

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
C-X-C motif chemokine receptor 3
Synonyms:
Cxcr3,  Cmkar3,  Cd183

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Cxcr3 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 Cxcr3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta... OMIM:161900
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Renal inters... OMIM:614817
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti... OMIM:162000
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Interstitial Lung Disease 2
Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil proportion... OMIM:178500
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Microlissencephaly
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Pneumonia, Lissenc... ORPHA:1083
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Galactosemia I
Increased level of galactitol in red blood cells, Galactosuria, Increased level of galactitol in ... OMIM:230400
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Honeycomb lung, Pulmonary fibrosis OMIM:616371
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Crohn's disease, Decreased circulating IgG level, Recurrent sinopulmon... OMIM:618394
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ... OMIM:300400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Nephronophthisis-Like Nephropathy 2
Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Bronchiectasis, Elevated circulati... OMIM:619468
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ... OMIM:618986
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Nephrotic syndrome, Proteinu... OMIM:617006
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Recurrent opportunis... OMIM:608971
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... ORPHA:329918
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Bronchiectasis, Decreased... OMIM:607594
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Colonic eosinophilia, Bronchiectas... OMIM:617638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia OMIM:312863
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Xanthinuria, Type I
Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr... OMIM:278300
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:611926
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, Decreased specific pneumococcal antibody level, Increased circulating I... OMIM:615513
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Immotile sperm, Bronchiectasis OMIM:618449
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro... OMIM:608709
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Eczematoid dermatitis, Decreased circulating IgG level, Pulmonary fibr... OMIM:619510
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Reduced sperm motility, Bronchi... OMIM:619436
Immunodeficiency 48
Recurrent candida infections, Panhypogammaglobulinemia, Eczematoid dermatitis, Pneumonia, Recurre... OMIM:269840
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Idiopathic Achalasia
Bronchitis, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia ORPHA:930
Imerslund-Grasbeck Syndrome 2
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Moderate albuminuria OMIM:618882
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Felty Syndrome
Chronic otitis media, Sepsis, Recurrent pharyngitis, Pleuritis, Recurrent infections, Arthritis, ... ORPHA:47612
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria OMIM:245900
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Abnormal natura... OMIM:613101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... OMIM:617056
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... OMIM:603278
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat... ORPHA:449395
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Decreased circulating antibody level, Recurrent pneumonia, Recurrent sinusi... OMIM:616576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, Decreased circulating antibody level, Decreas... OMIM:614069
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas... OMIM:609057
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Recurrent infection of the gastrointestinal tract, Recurr... OMIM:608184
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Pachygyria, Polymicrogyria, Aspiration pneumonia OMIM:609528
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Pulmonary fibrosis OMIM:620400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonodular pattern on pulm... ORPHA:133
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Xanthinuria, Type Ii
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... OMIM:603592
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial... OMIM:608957
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu... OMIM:174000
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Recurrent tonsillitis, Recurrent infections, Crohn's disease, Acute pancreatiti... OMIM:618935
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Bronchiectasis, Lissencephaly, Recurrent respiratory infections OMIM:619466
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Recurrent tonsillitis, Arthritis, Decreased circulating antibody level, B... ORPHA:397596
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Amyloidosis, Familial Visceral
Hematuria, Skin rash, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy OMIM:105200
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Scedosporiosis
Sepsis, Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Se... ORPHA:449280
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Proteinuria, Increased serum bile acid concentration, Conjugated hyperbilirub... OMIM:620010
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... ORPHA:567546
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decreased circulating total IgM,... OMIM:613500
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration... OMIM:616414
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent bronchit... OMIM:300853
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Increased circulating ferritin concentration, Abnormal pleura morpho... ORPHA:210136
Acute Interstitial Pneumonia
Atelectasis, Elevated circulating C-reactive protein concentration, Pleural effusion, Bronchiecta... ORPHA:79126
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating creatine ... ORPHA:228302
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Sepsis, ... ORPHA:178320
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Recurrent lower respiratory tract infections, Increased circulating IgG l... OMIM:619220
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:620282
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Proteinuria, Nephropathy ORPHA:220
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Immunodeficiency 32B
Recurrent infections, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Pneumonia, Hypoa... OMIM:226990
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent candida infections, Sepsis, Recurrent lower respiratory tract infections, Crohn's disea... ORPHA:436159
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent infections, Bronchiectas... OMIM:615207
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle... OMIM:619632
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Recurrent abscess formation, Panhypogammaglo... ORPHA:79124
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, P... OMIM:614742
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Elevated circulating creatine kinase concentration, Focal segment... OMIM:614455
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Pneumonia OMIM:266265
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel... OMIM:617241
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:614743
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Decreased circulating antibody level, Pulmonary fibrosis OMIM:619767
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... ORPHA:99886
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Elevated circulating creatine kinase concentration, Pulmonary fibrosis OMIM:615704
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Complement Factor B Deficiency
Pneumonia, Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease OMIM:615561
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Immunodeficiency 43
Lung abscess, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Decreased circula... OMIM:241600
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, El... OMIM:266900
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, Increased... OMIM:615934
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Decreased circulating IgG leve... ORPHA:420741
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, Salmonella osteomyelitis, Lymphade... ORPHA:319552
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections... OMIM:614878
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Recurrent skin infections, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Recurrent respirat... OMIM:612649
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Myh9-Related Disease
Nephritis, Nephropathy, Proteinuria, Renal insufficiency ORPHA:182050
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Hypophosphatemia, Proteinuria,... OMIM:618913
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Immunodeficiency 13
Recurrent otitis media, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis, Recurrent upper... OMIM:615518
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Recurrent infections, Chronic mucocutaneous can... OMIM:618282
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Skin rash, Decreased circulating antibody level, Partial absence of ... OMIM:618108
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Recurrent sinusitis, Bronchiolitis obliterans, Pyoderma, Enteroviral h... OMIM:300755
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Allergic rhinitis, Increased circulating IgG level, ... OMIM:243700
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Recurrent opportunistic infectio... ORPHA:276
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis... OMIM:613496
Immunodeficiency 102
Sepsis, Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Recur... OMIM:301082
Glycogen Storage Disease V
Myoglobinuria, Elevated circulating creatine kinase concentration, Dark urine, Hyperuricemia OMIM:232600
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Elevated circulating creatin... OMIM:614376
Al Amyloidosis
Renal interstitial amyloid deposits, Abnormality of the kidney, Increased circulating NT-proBNP c... ORPHA:85443
Antisynthetase Syndrome
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Arthritis, Skin rash, Elevated... ORPHA:81
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Proteinuria, Chronic kidney disease, Elevated cir... ORPHA:275555
Immunodeficiency 52
Defective T cell proliferation, Recurrent infections, Decreased circulating antibody level, Recur... OMIM:617514
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomag... OMIM:613845
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Reduced sperm motility, Bronchiectasis, Recurrent respira... OMIM:612650
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis OMIM:152700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Increased blood urea nitrogen, Microscopic hematuria, Abnormal renal p... OMIM:274150
Systemic Sclerosis
Myocarditis, Abnormality of the kidney, Acute kidney injury, Arthritis, Elevated circulating crea... ORPHA:90291
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Ciliary Dyskinesia, Primary, 51
Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility, Reduced progressive sperm motility... OMIM:620438
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Re... OMIM:615500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Crohn's disease, Arthritis, Decreased circu... OMIM:616100
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Elevat... OMIM:620321
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Immotile sperm OMIM:617091
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Heme Oxygenase 1 Deficiency
Hematuria, Elevated circulating C-reactive protein concentration, Nephritis, Proteinuria, Increas... OMIM:614034
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Sepsis, Recurrent infections, Thyroiditis, Colitis, Arthritis,... OMIM:614700
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Renal dysplasia, Unilateral renal atrophy, Nephritis, Pyelonephritis OMIM:314300
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:136680
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Reduced sperm... OMIM:608647
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Renal phosphate wasting, Hypocalcemia, Hypouricemi... ORPHA:411634
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis m... ORPHA:229717
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Agammaglobulinemia, Sin... ORPHA:33110
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Pro... OMIM:301050
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent bacterial infections, Decreased circu... OMIM:601495
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pulmonary fibrosis OMIM:618165
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chr... ORPHA:261222
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis... OMIM:610984
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Polycystic kidney dysplasia, Recurrent urinary tract infections, Multiple renal cyst... OMIM:613095
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Im... OMIM:613808
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Oligomeganephronia
Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ... ORPHA:2260
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:607616
Immunodeficiency 27A
Increased circulating IgG level, Salmonella osteomyelitis, Increased circulating IgM level, Pneum... OMIM:209950
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis OMIM:618648
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Arthritis, Proteinuria, Renal insufficiency ORPHA:375
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... OMIM:248250
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Recurrent respiratory infections OMIM:619126
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Recurrent lower respiratory tract infections, Increased circulati... OMIM:618534
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula... ORPHA:85450
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Emphysema, Pyoderma, Recurrent bronchopulmonary infections, Ecz... OMIM:242700
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis ORPHA:464370
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Recurrent... OMIM:615468
Papa Syndrome
Myositis, Arthritis, Crohn's disease, Pustule, Proteinuria, Acne, Increased inflammatory response ORPHA:69126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Recurrent urinary tract infections, Recu... OMIM:618495
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Chronic muco... OMIM:614868
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Nodular pattern on pulmonary HRCT, Diffu... ORPHA:99931
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Proteinuria, Ami... OMIM:616026
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis ORPHA:220402
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent S... ORPHA:83471
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo... OMIM:610978
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Reduced sperm motility, Otitis media, Bronchiectasis, Recurrent respiratory ... OMIM:613807
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Nephrotic syndrome, Renal amyloi... ORPHA:85445
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... OMIM:617575
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Increased circulating interleukin 6 concentration, Pancreatitis, Abnorma... ORPHA:70578
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Arthritis, Skin rash, Discoid lupus rash, Malar ras... ORPHA:93552
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Reduced circulating alpha-1-antitrypsin concentration, Chronic bronchitis, Panaci... OMIM:613490
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypokalemia, Generali... ORPHA:3337
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Elevated circulating long chain fatty acid concentration, Renal cortical microcysts,... OMIM:214100
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory inf... ORPHA:49041
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Tularemia
Pneumonia, Increased circulating antibody level, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:3392
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouricemia, Hy... OMIM:227810
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Acute infectious pneumonia, Pleur... ORPHA:723
Papillorenal Syndrome
Stage 5 chronic kidney disease, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinu... OMIM:120330
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Lymphoid Interstitial Pneumonia
Skin rash, Eczematoid dermatitis, Bronchiectasis, Rheumatoid arthritis, Respiratory tract infecti... ORPHA:79128
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, Rec... OMIM:608233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... OMIM:235400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ... OMIM:242860
Renal Hypoplasia, Bilateral
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... ORPHA:97362
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Decreased circulating antibody level, Interstitial ... OMIM:615952
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, C... OMIM:600802
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Intestinal inflammation, Proteinuria, Chilblains OMIM:619858
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Decreased specific anti-polysaccharide antibody level, Recurrent respir... OMIM:606367
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Recurrent lower respiratory tract infections, Elevate... OMIM:619644
Whim Syndrome
Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph... ORPHA:51636
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Conjugat... OMIM:613404
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Stage 3 chronic kidney disease OMIM:620366
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Hyperuricemia, Hprt-Related
Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Renal insufficiency OMIM:300323
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Recurrent otitis media, Decreased circulating total... OMIM:619802
Selective Igm Deficiency
Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibody response to vacc... ORPHA:331235
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Re... OMIM:615444
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin... ORPHA:368
Immunodeficiency 92
Cholangitis, Sclerosing cholangitis, Esophagitis, Partial absence of specific antibody response t... OMIM:619652
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... ORPHA:244
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Recurrent opportunistic infections, Stomatitis, Skin rash, Chronic muco... ORPHA:911
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu... OMIM:263000
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern, Elevated circulating carcinoembryonic antigen c... ORPHA:264675
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:616481
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Recurrent opportunistic infections, Recurrent urina... OMIM:613179
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Reduced antigen-specific ... OMIM:616433
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy OMIM:166300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Periodontitis, Recurrent ear infections, Rhinitis, Recurrent viral... ORPHA:486
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Pustule, Pulmonary ... OMIM:612852
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Superficial dermal perivascular inflammatory... ORPHA:284426
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:617092
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis OMIM:613193
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia ORPHA:70587
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Gastritis, Pleuritis, Myositis, Arthriti... ORPHA:809
Plasminogen Deficiency, Type I
Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Nephritis, Conjunctivitis OMIM:217090
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Reduced haptoglobin level, Hemolytic-uremic syndrome, Hyperechogenic kidneys, Proteinuria, Modera... OMIM:301110
Polymyositis
Abnormal pulmonary interstitial morphology, Arthritis, Elevated circulating creatine kinase conce... ORPHA:732
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:91547
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, Skin rash, Chronic mucocutaneous candidiasis, Increased circulati... OMIM:102700
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Hypocalcemia, Recurrent urinary tract infections, Skin rash, Arthritis, M... ORPHA:36234
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Aspiration pneumonia ORPHA:90117
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis ORPHA:457240
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Sepsis, Elevated circulating C-reactive protein concentrati... ORPHA:36238
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Hyperlipidemia, Proteinuria ORPHA:369
Melioidosis
Lung abscess, Sepsis, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Res... ORPHA:31202
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... OMIM:618699
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria OMIM:266120
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:611884
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Arth... OMIM:181000
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Pneumonia OMIM:610910
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Hyperuricemia, Unilateral rena... OMIM:137920
Isolated Permanent Neonatal Diabetes Mellitus
Abnormality of the upper urinary tract, Glycosuria, Moderate albuminuria, Ketonuria, Renal tubula... ORPHA:99885
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:614935
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... ORPHA:552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Usual interstitial pneumonia, Cholecystitis, Pulmonary fibrosis OMIM:620367
Reactive Arthritis
Recurrent aphthous stomatitis, Arthritis, Recurrent urinary tract infections, Pericarditis, Pustu... ORPHA:29207
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis, Recurrent infections, Reduced sperm motility OMIM:615434
Frasier Syndrome
Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto... ORPHA:347
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria, Proteinuria... ORPHA:251004
Simple Cryoglobulinemia
Abnormality of the kidney, Arthritis, Viral hepatitis, Nephrotic syndrome, Microscopic hematuria,... ORPHA:91139
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Bone marrow hypocellularity, Recurrent aphthous stomatitis,... ORPHA:3261
Braddock Syndrome
Pulmonary fibrosis ORPHA:52047
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Recurrent tonsillitis OMIM:619223
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r... OMIM:308940
Cystinosis
Hypokalemia, Nephropathy, Proteinuria, Hypophosphatemia, Renal insufficiency, Aminoaciduria, Rena... ORPHA:213
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Decreased circulating IgG level, Increased circulat... OMIM:616005
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Recurrent bronchitis, Decreased circulating antibody level, Bron... ORPHA:1572
46,Xy Sex Reversal 4
Recurrent otitis media, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydron... OMIM:154230
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Hematuria, Hyperuricemia, Elevated circulating creatine kinase co... OMIM:232800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Psoriasiform dermatitis, Thyroiditis, Recurrent gastroenteritis, Pneumonia, Crusting erythematous... ORPHA:37042
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration ORPHA:98895
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM... OMIM:619705
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis OMIM:614017
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Renal tubular... OMIM:617303
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Hyperbilirubinemia, Skin rash, Elevated circulating creatinine concentration... ORPHA:542323
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Sepsis, Panhypogammaglobulinemia, Increased circulating IgE level, Otitis media, Recurrent upper ... OMIM:602450
Hermansky-Pudlak Syndrome 4
Pulmonary fibrosis OMIM:614073
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Avian Influenza
Pneumothorax, Sepsis, Myelitis, Elevated circulating C-reactive protein concentration, Pleural ef... ORPHA:454836
Timothy Syndrome
Pneumonia, Bronchitis, Recurrent infections, Patent ductus arteriosus OMIM:601005
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ... ORPHA:470
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane... OMIM:146255
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Bronchitis, Increased circulating surfactant protein level, Int... ORPHA:60025
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Pne... ORPHA:169090
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent infections, Recurrent pneumoni... OMIM:150550
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr... OMIM:618885
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H... ORPHA:157
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Proteinuria, Nephropathy OMIM:209010
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro... OMIM:616037
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Bronchiectasis, Pneumo... OMIM:244400
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury ORPHA:57
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Pgm3-Cdg
Chronic otitis media, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity,... ORPHA:443811
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Pol... ORPHA:228308
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Myoglobinuria ORPHA:713
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine level, Rhinitis, Nocturia, Elevated circ... ORPHA:230
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hematuria, Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleriti... ORPHA:36412
Immune-Mediated Necrotizing Myopathy
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Skin rash, Elevated circulatin... ORPHA:206569
Congenital Myopathy 21 With Early Respiratory Failure
Lipoid pneumonia, Elevated circulating creatine kinase concentration OMIM:620326
Cryoglobulinemic Vasculitis
Glomerulopathy, Hematuria, Arthritis, Viral hepatitis, Proteinuria, Renal insufficiency, Keratoco... ORPHA:91138
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Periodontitis, Moderate albuminuria OMIM:619269
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Legionnaires Disease
Myocarditis, Hematuria, Pancreatitis, Hepatitis, Hyponatremia, Pericarditis, Endocarditis, Protei... ORPHA:549
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Elevated circulating C-reactive protein concentr... ORPHA:900
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c... OMIM:620300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Pseudo-Torch Syndrome 3
Lymphadenitis, Acute kidney injury, Increased circulating ferritin concentration, Proteinuria OMIM:618886
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Hypercalcemia, Proteinuria OMIM:171420
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Majeed Syndrome
Glomerulopathy, Synovitis, Microscopic hematuria, Pustule, Osteomyelitis, Proteinuria, Inflammato... ORPHA:77297
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria OMIM:603585
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Unconjugated hyperbilirubi... ORPHA:90038
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Abnormal pulmonary interstitial morphology OMIM:619013
Glycogen Storage Disease Ia
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232200
Good Syndrome
Recurrent urinary tract infections, Decreased circulating antibody level, Sinusitis, Bronchiectas... ORPHA:169105
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Omenn Syndrome
Hypoproteinemia, Erythroderma, Recurrent viral infections, Pneumonia, Recurrent fungal infections... OMIM:603554
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent infections, Decreased circulating IgG level, Pulmonary fibrosis, Recurrent... OMIM:618278
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Pneumonia, Hematuria, Decreased glomerular filtration rate, Ac... ORPHA:340
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Intermediate ... ORPHA:91500
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Nephrotic syndrome, Enterocolitis, Mild proteinuria, Focal segmental glomerulosclerosis OMIM:301108
Hermansky-Pudlak Syndrome 6
Recurrent urinary tract infections, Impaired ADP-induced platelet aggregation, Impaired collagen-... OMIM:614075
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis OMIM:618063
Glycogen Storage Disease Ic
Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemia, Stomatitis,... OMIM:232240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Nephritis, Malar rash OMIM:603909
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine, Elevated circulating creatine kinase concentration, Decreased pla... ORPHA:228305
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Glycosuria, Nephritis, ... ORPHA:2298
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... OMIM:254900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Skin rash, Proteinuria, Pneumonia, Elevated circulating creatinine concentr... ORPHA:247691
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Recurrent pneumonia, Abnormal pulmonary interstitial morphology... ORPHA:209905
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria ORPHA:834
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration... OMIM:607426
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Sepsis, Recurrent aspiration pneumonia ORPHA:204
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Postinfectious Vasculitis
Gastrointestinal inflammation, Recurrent candida infections, Recurrent Staphylococcus aureus infe... ORPHA:48435
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:224230
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re... ORPHA:183
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Bone marrow hypocellularity, Pulmonary fibrosis OMIM:127550
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Microsporidiosis
Myocarditis, Urethritis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Thyroiditis, Keratocon... ORPHA:2552
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... OMIM:256550
Graft Versus Host Disease
Gastrointestinal inflammation, Inflammatory abnormality of the eye, Stomatitis, Acute hepatitis, ... ORPHA:39812
Bloom Syndrome
Cheilitis, Recurrent tonsillitis, Recurrent infections, Bronchitis, Skin rash, Decreased circulat... ORPHA:125
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti... ORPHA:33001
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal ... OMIM:208500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Elevated circulating C-reactive protein co... ORPHA:829
Histidinemia
Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria OMIM:235800
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Pl... ORPHA:781
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:613989
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hyperammonemia, Stage 5 chronic kidney dis... OMIM:251000
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Pulmonary fibrosis ORPHA:220393
Typhoid
Infectious encephalitis, Skin rash, Abnormal pulmonary interstitial morphology ORPHA:99745
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Juvenile Dermatomyositis
Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash, Elevated c... ORPHA:93672
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... OMIM:232220
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Hematuria,... ORPHA:95455
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Chronic mucocutaneou... OMIM:615816
Sjogren Syndrome
Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Pulmonary fibrosis OMIM:203300
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Malakoplakia
Hematuria, Skin rash, Dysuria, Urinary hesitancy, Urinary urgency, Inflammatory abnormality of th... ORPHA:556
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Glycosuria, Proteinuria, Abnormal circulating fatty-acid concentration,... ORPHA:263455
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Tu... ORPHA:488627
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis OMIM:613990
Nail-Patella Syndrome
Abnormality of the kidney, Hematuria, Arthritis, Nephrotic syndrome, Thickened glomerular basemen... ORPHA:2614
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Homocystinuria... OMIM:277400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation, Pulmonary fi... OMIM:615486
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Decreased circulating carnitine concentrat... OMIM:201475
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Pustule, Infectious encephali... ORPHA:139402
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Minimal change glomerulonephritis, Nephrotic range proteinuria, Hyperlipidemia, Foc... ORPHA:1830
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Chronic active hepa... OMIM:203800
Yellow Nail Syndrome
Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Bronchiectasis, Recurrent respiratory infec... ORPHA:662
Ciliary Dyskinesia, Primary, 2
Sinusitis, Recurrent respiratory infections, Otitis media, Bronchiectasis OMIM:606763
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Decreased circulating total IgG, Recurrent otitis media, Gastritis, ... OMIM:619381
Multiple Myeloma
Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Hyperproteine... ORPHA:29073
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Simplified gyral pattern, Aspiration pneumonia OMIM:618253
Proximal Renal Tubular Acidosis
Bicarbonaturia, Low-molecular-weight proteinuria, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypophosphatemia, Stage 5 chronic kidney disease, Reduced blood urea n... OMIM:219800
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Hyperphosphaturia, Glycosuria, Renal Fanconi syndr... ORPHA:411629
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulatin... ORPHA:293978
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Alpha-1-Antitrypsin Deficiency
Panniculitis, Emphysema, Bronchitis, Bronchiectasis, Reduced circulating alpha-1-antitrypsin conc... ORPHA:60
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Absent bronchoalveolar d... OMIM:265120
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbilirubinemia,... ORPHA:447
Aicardi-Goutieres Syndrome 9
Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Acute pancreatitis... OMIM:619487
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Bilateral renal agenesis, Proteinuria OMIM:191830
Hand-Foot-Genital Syndrome
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct... OMIM:140000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Abnormal cir... ORPHA:71212
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration OMIM:619685
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Skin rash, Pleural effusion, Pulmonary fibrosis, Oste... ORPHA:35687
Omenn Syndrome
Pneumonia, Thyroiditis, Sepsis, Erythroderma ORPHA:39041
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent infections, Recurrent gastroenteritis ORPHA:309288
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Polymicrogyria, Recurrent aspiration pneumonia ORPHA:79243
Wild Type Attr Amyloidosis
Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency ORPHA:330001
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:29072
Brucellosis
Bronchitis, Pericarditis, Anterior uveitis, Myocarditis, Increased circulating IgG level, Septic ... ORPHA:1304
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgG, Arthritis, Recurrent urinary tract inf... ORPHA:221139
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Recurrent otitis media, Microscopic hematuria, Moderate... OMIM:619525
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Relapsing Polychondritis
Myocarditis, Glomerulopathy, Hematuria, Recurrent aphthous stomatitis, Inflammatory abnormality o... ORPHA:728
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Zygomycosis
Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Hepatitis, Sinusitis... ORPHA:73263
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis OMIM:616629
Feingold Syndrome Type 1
Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren... ORPHA:391641
Mitochondrial Trifunctional Protein Deficiency 1
Hyperammonemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:609015
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Mild proteinuria, Increased serum pyruvate, Hyperalaninemia, Renal insufficiency OMIM:619147
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Lymphatic Filariasis
Abnormality of the kidney, Hematuria, Urethral obstruction, Knee osteoarthritis, Lymphadenitis, N... ORPHA:2035
Igg4-Related Pachymeningitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Si... ORPHA:449427
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:612199
Donohue Syndrome
Hyperinsulinemia, Hyperglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:246200
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Autoimmune Polyendocrinopathy Type 4
Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Tubulointerstit... ORPHA:227990
Pheochromocytoma
Elevated urinary norepinephrine level, Hypercalcemia, Proteinuria, Renal artery stenosis OMIM:171300
Lissencephaly Due To Lis1 Mutation
Dysgyria, Posterior predominant thick cortex pachygyria, Agyria, Aspiration pneumonia, Anterior p... ORPHA:95232
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Elevated circulating creatine kinase concentration, H... OMIM:251900
Primary Sjögren Syndrome
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Arteritis, Chro... ORPHA:289390
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Nocardiosis
Pneumothorax, Scleritis, Sepsis, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymphadenit... ORPHA:31204
Birk-Landau-Perez Syndrome
Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Increased... OMIM:617595
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Fabry Disease
Urinary mulberry cells, Proteinuria, Lipiduria, Renal insufficiency OMIM:301500
Dermatomyositis
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Arthritis, Skin rash, Elevated... ORPHA:221
Immunoglobulin A Vasculitis
Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Pustule, Proteinuria, Orchitis, Re... ORPHA:761
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis OMIM:614582
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Cholangitis, Arthritis, Pleural effusion, Eczematoid dermatitis, Chronic hepatitis,... ORPHA:3260
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Pancreatitis, Hyperuricemia, Tubulointerstitial fibrosis, ... ORPHA:79259
Gaucher Disease
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Elevated circul... ORPHA:355
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Autoimmune Polyendocrinopathy Type 3
Abnormal pulmonary interstitial morphology, Decreased circulating antibody level, Tubulointerstit... ORPHA:227982
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Listeriosis
Myocarditis, Acute kidney injury, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthri... ORPHA:533
Niemann-Pick Disease, Type C2
Pulmonary fibrosis OMIM:607625
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617050
Wilson Disease
Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hypour... OMIM:277900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Pyelonephritis OMIM:619351
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Aspiration pneumonia, Keratitis, Proteinuria, Chronic kidney disease, Stage 5 chronic ... ORPHA:1018
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Proteinuria, Conjunctivitis, Renal insufficiency, Uveitis ORPHA:90321
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Panniculitis, Acute pancreatitis,... ORPHA:79086
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Hemoglobinuria, Unconjugated hyperbil... OMIM:300908
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Elevated circul... ORPHA:77259
Goodpasture Syndrome
Glomerular crescent formation, Increased blood urea nitrogen, Cylindruria, Macroscopic hematuria,... OMIM:233450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Hepatitis, Hemoglobinuria OMIM:194380
Spondyloenchondrodysplasia
Hematuria, Arthritis, Skin rash, Proteinuria, Chronic kidney disease, Pneumonia, Juvenile rheumat... ORPHA:1855
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... OMIM:617729
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disea... OMIM:242900
Overlap Myositis
Rheumatoid arthritis, Arthritis, Abnormal pulmonary interstitial morphology, Elevated circulating... ORPHA:206572
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Increased serum bile acid concentration, Hypokalemia OMIM:619377
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Shwachman-Diamond Syndrome
Sepsis, Hypoamylasemia, Skin rash, Eczematoid dermatitis, Sinusitis, Bone marrow hypocellularity,... ORPHA:811
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Fibrocys... OMIM:158310
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Patent ductus arteriosus, Recur... OMIM:617053
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:86818
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hypoglycemia, Hyperglycemia OMIM:615453
Cole Disease
Hyperglycemia OMIM:615522
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Pericarditis, Proteinuria, Hypoalbuminemia,... OMIM:212065
Ohdo Syndrome
Proteinuria OMIM:249620
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Knobloch Syndrome 2
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Patent ductus arter... OMIM:618458
Sarcoidosis
Pneumothorax, Keratoconjunctivitis sicca, Emphysema, Chylothorax, Parotitis, Pleural effusion, Tu... ORPHA:797
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Nephrotic syndrome, Pericarditis, Erysipelas, Nephrocalcinosi... ORPHA:342
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circu... OMIM:616878
Congenital Tracheomalacia
Pneumothorax, Emphysema, Patent ductus arteriosus, Bronchiectasis, Pulmonary hypoplasia, Partial ... ORPHA:95430
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Cryptococcosis
Pneumonia, Prostatitis, Sepsis, Pleural effusion, Peritonitis, Nodular pattern on pulmonary HRCT,... ORPHA:1546
Nail-Patella Syndrome
Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis OMIM:161200
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Recurrent respi... ORPHA:77261
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Aicardi-Goutieres Syndrome 7
Recurrent lower respiratory tract infections, Increased circulating antibody level, Arthritis, Sk... OMIM:615846
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Proteinuria, Conjunctivitis, Hypoalbuminemia, Heavy proteinu... ORPHA:505248
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Recurrent otitis media ORPHA:2728
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Shigellosis
Myocarditis, Sepsis, Acute colitis, Arthritis, Peritonitis, Conjunctivitis, Pneumonia, Ulcerative... ORPHA:810
Hermansky-Pudlak Syndrome
Pulmonary fibrosis ORPHA:79430
Xfe Progeroid Syndrome
Hypoalbuminemia, Renal insufficiency, Proteinuria OMIM:610965
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:608612
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Duplication ... ORPHA:2036
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia, Patent ductus arteriosus OMIM:300472
Gitelman Syndrome
Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Hypocalcemia, Renal p... ORPHA:358
Renal Nutcracker Syndrome
Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria ORPHA:71273
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Postprandial hyp... ORPHA:2088
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Patent ductus arteriosus OMIM:603467
Marburg Hemorrhagic Fever
Pancreatitis, Hypokalemia, Arthritis, Skin rash, Hyperamylasemia, Elevated circulating creatine k... ORPHA:99826
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Recurrent urinary tract infections, Vesicoureteral reflux, Urethral... ORPHA:90349
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Nephrocalcinosis, Hypophosphatemia, Multiple renal cysts, Nephro... ORPHA:534
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:251300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase... ORPHA:79240
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Hypoproteinemia, Inflammatory abnormality of the skin, Elevated circulating creatine k... ORPHA:26793
Gm1 Gangliosidosis
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia, Patent ductus ar... ORPHA:354
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:255125
Kawasaki Disease
Myocarditis, Cheilitis, Abnormal pulmonary interstitial morphology, Recurrent pharyngitis, Elevat... ORPHA:2331
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Proteinuria, Micropenis OMIM:619471
Fabry Disease
Abnormal circulating lipid concentration, Abnormal renal tubule morphology, Glomerulopathy, Hemat... ORPHA:324
Glycogen Storage Disease Xii
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration... OMIM:611881
Cocaine Intoxication
Acute kidney injury, Hematuria, Colitis, Elevated circulating creatine kinase concentration, Prot... ORPHA:90068
Dyskeratosis Congenita, X-Linked
Blepharitis, Pulmonary fibrosis, Bone marrow hypocellularity, Conjunctivitis OMIM:305000
Systemic Lupus Erythematosus
Cheilitis, Hematuria, Pyuria, Malar rash, Arthritis, Discoid lupus rash, Proteinuria, Serositis, ... ORPHA:536
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology OMIM:230800
Martin-Probst Syndrome
Chordee, Micropenis, Proteinuria, Renal insufficiency OMIM:300519
Lead Poisoning
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Skin rash, Chro... ORPHA:330015
Congenital Syphilis
Myocarditis, Pancreatitis, Synovitis, Rhinitis, Keratitis, Pneumonia, Maculopapular exanthema, Uv... ORPHA:499009
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Renal tubular acidosis, Myoglobinuria, Elevated circulating creatine kinase... ORPHA:264580
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Myocarditis, Pneumonia, Pancreatitis, Hypocalcemia, Acute coli... ORPHA:544482
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Hardikar Syndrome
Hydroureter, Cholangitis, Recurrent urinary tract infections, Hyperbilirubinemia, Vesicoureteral ... OMIM:301068
Hellp Syndrome
Acute kidney injury, Proteinuria, Hemoglobinuria ORPHA:244242
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis ORPHA:2072
Yellow Fever
Acute kidney injury, Hyperbilirubinemia, Anuria, Skin rash, Acute pancreatitis, Elevated circulat... ORPHA:99829
Cornelia De Lange Syndrome 1
Pneumonia, Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal c... OMIM:122470
Agel Amyloidosis
Stage 5 chronic kidney disease, Proteinuria, Keratoconjunctivitis sicca ORPHA:85448
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Dend Syndrome
Hyperglycemia ORPHA:79134
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent si... OMIM:615067
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Mitchell-Riley Syndrome
Diabetes mellitus, Hyperglycemia OMIM:615710
Imerslund-Gräsbeck Syndrome
Proteinuria, Angular cheilitis ORPHA:35858
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Unconjugated hyperbilirubinemia ORPHA:232
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis ORPHA:459061
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:134
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis ORPHA:90790
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Renal insufficiency, Elevated circulating creat... OMIM:309000
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hyperglycemia ORPHA:465508
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Hyperechogenic kidneys, Protein... OMIM:609049
Melas
Proximal tubulopathy, Focal segmental glomerulosclerosis, Proteinuria, Recurrent pancreatitis, Ne... ORPHA:550
Cystic Fibrosis
Pneumothorax, Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infec... ORPHA:586
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Hypomagnesemia, Hypophosphate... ORPHA:699
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Pyelonephritis OMIM:181270
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia ORPHA:90065
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Coffin-Siris Syndrome
Recurrent infections, Aspiration pneumonia, Simplified gyral pattern, Patent ductus arteriosus, R... ORPHA:1465
Alpha-Mannosidosis, Infantile Form
Recurrent infections, Recurrent urinary tract infections, Otitis media, Pneumonia, Recurrent gast... ORPHA:309282
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Fast... ORPHA:769
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia, Patent ductus arteriosus OMIM:616368
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin ORPHA:454831
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections ORPHA:99104
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus OMIM:151660
Miller-Dieker Lissencephaly Syndrome
Agyria, Gray matter heterotopia, Recurrent aspiration pneumonia, Pachygyria, Lissencephaly OMIM:247200
Cockayne Syndrome
Urinary incontinence, Unilateral renal agenesis, Hyperuricemia, Malar rash, Neurogenic bladder, N... ORPHA:191
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Diabetes mellitus, Hyperglycemia OMIM:609069
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Hypoalbuminemia, Abnormal pulmonary interstitial morphology, ... OMIM:613658
Marshall-Smith Syndrome
Aspiration pneumonia, Recurrent aspiration pneumonia, Pachygyria, Patent ductus arteriosus, Recur... OMIM:602535
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus OMIM:248370
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Recurrent infections due to aspiration ORPHA:70
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Mucopolysaccharidosis Type 3
Chronic otitis media, Recurrent tonsillitis, Aspiration pneumonia, Respiratory tract infection, R... ORPHA:581
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Respiratory tract infection, Pneumonia, Infectious encephalitis ORPHA:68
Kikuchi-Fujimoto Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein ... ORPHA:50918
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Sepsis, Pyoderma, Recurrent urinary tract infections... ORPHA:79404
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia OMIM:620423
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections OMIM:253200
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia ORPHA:845
Holoprosencephaly
Hyponatremia, Abnormality of the urinary system, Proteinuria, Hypoplasia of penis ORPHA:2162
Chronic Graft Versus Host Disease
Pneumothorax, Recurrent infections, Arthritis, Pleural effusion, Bronchiectasis, Urinary bladder ... ORPHA:99921
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia ORPHA:440713
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Myocarditis, Hematuria, Parotitis, Acute pancreatitis, Elevated circulating cr... ORPHA:99827
Orofaciodigital Syndrome Type 1
Chronic otitis media, Renal insufficiency, Hydronephrosis, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Autosomal Dominant Cutis Laxa
Bronchiectasis, Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis ORPHA:90348
Biliary, Renal, Neurologic, And Skeletal Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Hyperbilirubinemia, Medullary nephrocalcinos... OMIM:619534
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Liver Disease, Severe Congenital
Pulmonary edema, Sepsis, Recurrent otitis media, Patent ductus arteriosus, Chronic gastritis, Rec... OMIM:619991
Plague
Carbuncle, Sepsis, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, Sk... ORPHA:707
Williams Syndrome
Abnormal circulating lipid concentration, Chronic otitis media, Hypoplasia of penis, Nephrocalcin... ORPHA:904
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Recurrent aspiration pneumonia ORPHA:397715
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia ORPHA:99027
Cockayne Syndrome B
Micropenis, Proteinuria, Renal insufficiency OMIM:133540
Cockayne Syndrome A
Micropenis, Proteinuria, Renal insufficiency OMIM:216400
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hyperglycemia ORPHA:3008
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis OMIM:619127
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria OMIM:311200
Cholera
Aspiration pneumonia ORPHA:173
Degcags Syndrome
Recurrent infections, Recurrent urinary tract infections, Rhinitis, Patent ductus arteriosus, Pne... OMIM:619488
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Hypertyrosinemia, Aminoaciduria, Tubulointerstitial nephritis, Lacticaciduria OMIM:124000
Cranioectodermal Dysplasia 1
Hypocalcemia, Stage 1 chronic kidney disease, Chronic kidney disease, Stage 5 chronic kidney dise... OMIM:218330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Recurrent aspiration pneumonia, Elevated circulating alpha-fetoprotein concentration... ORPHA:280633
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Otitis media, Patent ductus arteriosus, Pneumonia, Recurrent ... ORPHA:353281
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Patent ductus arteriosus, Recurrent urinary tract i... OMIM:616268
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Hyperglycemia, Type II diabetes mellitus, Fasting hyperinsulinemia,... ORPHA:79474
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Patent ductus arteriosus ORPHA:2745
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Recurrent... ORPHA:508
Fontaine Progeroid Syndrome
Pneumothorax, Gray matter heterotopia, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Pate... OMIM:612289
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Otitis media, Patent ductus arteriosus, Pneumonia, Recurrent ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Otitis media, Patent ductus arteriosus, Pneumonia, Recurrent ... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia, Patent ductus arteriosus ORPHA:444077
Chronic Visceral Acid Sphingomyelinase Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology ORPHA:77293
Scorpion Envenomation
Glycosuria, Hyperglycemia ORPHA:466677
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Diabetes mellitus, Hyperglycemia OMIM:600001
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia OMIM:220111
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis ORPHA:79078
Niemann-Pick Disease Type C
Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia ORPHA:293987
Doors Syndrome
Polymicrogyria, Aspiration pneumonia ORPHA:79500
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Recurrent aspiration pneumonia, Septic arthritis, Fas... ORPHA:642
Kabuki Syndrome 1
Recurrent infections, Recurrent otitis media, Recurrent aspiration pneumonia OMIM:147920
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Patent ductus arteriosus ORPHA:438213
Bardet-Biedl Syndrome
Insulin resistance, Impaired fasting glucose, Type II diabetes mellitus ORPHA:110
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pmm2-Cdg
Abnormal renal tubule morphology, Reduced thyroxin-binding globulin, Aspiration pneumonia, Nephro... ORPHA:79318
Yunis-Varon Syndrome
Pachygyria, 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 Cxcr3

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 Cxcr3.

No publications found that use IMPC mice or data for Cxcr3.

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
Cxcr3tm370721(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cxcr3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cxcr3tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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