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Gene: Rubcn MGI:1915160

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein

Synonyms:

1700021K19Rik

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 Rubcn 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.

Human diseases associated with Rubcn (2 diseases)
Human diseases predicted to be associated with Rubcn (737 diseases)

The table below shows human diseases associated to Rubcn by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency			ORPHA:404499
Spinocerebellar Ataxia, Autosomal Recessive 15			OMIM:615705

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

Disease	Matching phenotypes	Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Autoimmunity, Microscopic hematuria, ...	ORPHA:567544
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul...	OMIM:614470
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage...	OMIM:613496
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Autoimmunity, Lymp...	OMIM:618495
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Drug-Induced Lupus Erythematosus	Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki...	ORPHA:231111
Preeclampsia	Increased body mass index, Small for gestational age, Autoimmunity, Proteinuria, Abnormality of t...	ORPHA:275555
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin...	OMIM:619632
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth...	OMIM:619644
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Autoimmunity, Eczema, Abnormal immunoglobulin level, Absent peripheral lymph n...	ORPHA:98813
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono...	OMIM:616871
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease...	ORPHA:169154
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula...	ORPHA:449400
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti...	ORPHA:90060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He...	OMIM:618982
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node...	ORPHA:277
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an...	OMIM:616414
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym...	ORPHA:79087
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:608709
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin ras...	OMIM:615934
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin...	ORPHA:37042
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Thymoma	Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Pure red cell aplasia, Abnormal lymp...	ORPHA:99867
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme...	OMIM:614380
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Rheumatoid factor...	ORPHA:91139
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Rheumatoid factor positi...	OMIM:615816
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade...	ORPHA:100024
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut...	ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, I...	OMIM:615285
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci...	OMIM:618459
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-rea...	OMIM:613011
Activated Pi3K-Delta Syndrome	Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre...	ORPHA:397596
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au...	ORPHA:99931
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos...	ORPHA:90280
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Skin rash, Autoimmunity, Abnormal T...	ORPHA:331206
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus e...	ORPHA:411593
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg...	OMIM:617514
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Increased circulating IgG level, Leukopenia, Hypoalbuminem...	ORPHA:2298
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Neutropenia, Ly...	OMIM:300988
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o...	ORPHA:400
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu...	OMIM:235400
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer...	OMIM:618394
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leuk...	OMIM:616005
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E...	OMIM:614034
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Increased circulating IgE level...	OMIM:243700
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta...	OMIM:614376
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:83313
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,...	OMIM:618986
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Nephr...	OMIM:215250
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic ...	ORPHA:275
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Recurrent skin infections, Decreased circulating antibody level, Hypocystinemi...	OMIM:617744
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur...	ORPHA:251004
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy...	OMIM:301078
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep...	ORPHA:93552
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s...	OMIM:618999
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced...	OMIM:614699
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ...	ORPHA:536
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi...	OMIM:617241
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia	ORPHA:375
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Autoimmunity, Megaloblastic anemia, Anem...	OMIM:617780
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Decreased proportion of class-s...	OMIM:615767
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis	OMIM:216950
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	OMIM:619468
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, L...	OMIM:616100
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu...	OMIM:617575
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ...	ORPHA:2902
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weigh...	ORPHA:507
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Autoimmunity, Increased circulating IgG4 level, Cholangitis, Abnormality of ...	ORPHA:449432
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Abnorm...	OMIM:616733
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Galactosemia I	Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Aminoaciduria, Albuminur...	OMIM:230400
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 22	Failure to thrive, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Decreased circulating t...	OMIM:615758
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b...	OMIM:618347
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Pseudo-Torch Syndrome 3	Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kid...	OMIM:618886
Prolidase Deficiency	Hepatomegaly, Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia...	OMIM:170100
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Decreased circulating total Ig...	OMIM:619510
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Increased hepatic glycogen ...	ORPHA:369
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Lymphopenia, Recurrent skin infections, Splenom...	OMIM:620210
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thro...	OMIM:603552
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia...	ORPHA:760
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Abnorma...	ORPHA:47
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum...	ORPHA:340
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Abnormal natura...	OMIM:613101
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th...	OMIM:619155
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Lymphopenia, Intermittent thrombocytopenia, Per...	OMIM:612541
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Anem...	OMIM:617303
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Autoimmunity, Increased circulating ferritin concentration, S...	OMIM:618398
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Failure to thrive...	OMIM:606367
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity...	OMIM:617718
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co...	OMIM:617099
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop...	ORPHA:77297
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr...	OMIM:123550
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Pneumonia, Abnormality...	ORPHA:229717
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age, Functional abnormality of the bladder	OMIM:300076
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop...	OMIM:602450
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Chronic kidney disea...	ORPHA:97362
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Small for gestational age, Proteinuria, Abnormal immunoglobuli...	OMIM:242900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci...	ORPHA:90362
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,...	ORPHA:90003
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Autoimmunity, Skin ...	ORPHA:36412
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Rhinitis,...	ORPHA:230
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,...	OMIM:616740
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc...	OMIM:613404
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo...	ORPHA:2260
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A...	OMIM:300310
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Splenomegaly, Jaundice...	ORPHA:549
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Neutropenia, H...	ORPHA:1667
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ...	ORPHA:2035
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa...	OMIM:608104
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Hepa...	OMIM:619111
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ...	OMIM:619774
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea...	ORPHA:54251
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutrop...	OMIM:615387
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi...	OMIM:232220
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea...	ORPHA:85414
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt...	ORPHA:90036
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Thrombocytopenia, Peritonitis, Leukocytosis, Elevated circ...	ORPHA:90038
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenom...	ORPHA:77259
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Abnormality of the kidney, Polycythemia	ORPHA:284227
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, F...	ORPHA:79312
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nit...	ORPHA:90321
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, M...	ORPHA:411634
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla...	OMIM:275350
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Eosinophilopenia	Allergic rhinitis, Autoimmunity, Decreased eosinophil count	OMIM:131430
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An...	ORPHA:64744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Hypouricemia, Proteinuria, Large for gestational age, Nephrocalc...	OMIM:616026
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec...	OMIM:154230
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity	ORPHA:98827
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El...	ORPHA:542323
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Intrahepatic cholestasis, ...	OMIM:227810
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea...	OMIM:615577
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Omenn Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lym...	ORPHA:39041
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Autoimmunity, Sinusitis, Increased in...	ORPHA:183
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Felty Syndrome	Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmu...	ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Lymphopenia, Thrombocytopenia...	OMIM:617591
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein...	ORPHA:449563
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase...	OMIM:610377
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid...	ORPHA:57
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Autoimmunit...	ORPHA:83471
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Elevated circul...	ORPHA:829
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Autoimmunity, Pneumonia, Autoimmune throm...	ORPHA:1855
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, Hy...	ORPHA:398063
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Anemia	ORPHA:1192
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated circulating cr...	OMIM:608836
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hepatomegaly, Circulating immu...	ORPHA:91138
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Autoimmunity, Large for gestational age, Increased circulating free fatty acid level, Enlarged to...	ORPHA:293964
Type 1 Diabetes Mellitus	Polyuria, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of...	ORPHA:79086
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Functional abnormality of the bladder	ORPHA:2571
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am...	ORPHA:213
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane...	OMIM:147060
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Cyclic neutropenia, Chronic pancr...	OMIM:232240
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Increased circulating IgE level, ...	OMIM:618282
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Autoimmunity, Elevated circu...	ORPHA:900
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Proteinuria, Splenomegaly, Nephrotic syndrome	ORPHA:834
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim...	ORPHA:227990
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ...	OMIM:619147
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic s...	OMIM:212065
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat...	OMIM:613070
Overlap Myositis	Autoimmunity, Elevated circulating creatine kinase concentration, Abnormality of the kidney, Anti...	ORPHA:206572
Renal Hypoplasia	Renal insufficiency, Urethral valve, Small for gestational age, Proteinuria, Unilateral renal age...	ORPHA:93101
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh...	ORPHA:139402
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, In...	ORPHA:505248
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Renal insufficiency, Elevated circulat...	ORPHA:99829
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ...	ORPHA:99827
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim...	ORPHA:227982
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati...	ORPHA:263455
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Weight loss, Lymphocy...	ORPHA:514
Rift Valley Fever	Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Hematuria, Increased circulating IgG l...	ORPHA:319251
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con...	ORPHA:50918
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur...	OMIM:255125
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,...	ORPHA:3226
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Increased ...	ORPHA:297
Netherton Syndrome	Decreased circulating IgG level, Recurrent skin infections, Eczema, Allergic rhinitis, Increased ...	OMIM:256500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Failure...	OMIM:242860
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy	ORPHA:56425
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Autoim...	ORPHA:552
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia...	ORPHA:186
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclero...	OMIM:232200
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Elevated circulating ...	OMIM:208900
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228305
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ...	OMIM:251110
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ...	OMIM:618885
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc...	ORPHA:90363
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Failure to thrive, Increased circulating IgE level, Recurrent pneumonia	OMIM:616069
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb...	ORPHA:171
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Failure to thrive in infancy, Autoimmunity, Cholangitis, Portal hypertension, Hyper...	ORPHA:228426
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, System...	ORPHA:90033
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Glycogen Storage Disease Ixd	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:100026
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Increased circulat...	ORPHA:330015
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Skin rash, Elevated circulating C-reac...	OMIM:612852
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ...	ORPHA:221139
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Alg12-Cdg	Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza...	ORPHA:79324
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Elevated circulating creatine ki...	OMIM:242840
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Autoimmunity, Skin rash, Abnormality of the pancreas, Jaundice, Abnorm...	ORPHA:69665
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co...	OMIM:601495
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Neutropenia, Increased circulating IgA level	OMIM:616395
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma...	ORPHA:358
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod...	ORPHA:634
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Aspergillosis	Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Eosinophilia, Keratitis, Increase...	ORPHA:1163
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema...	ORPHA:1018
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf...	ORPHA:125
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, Hematuria, Increased cir...	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,...	OMIM:619525
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive	OMIM:610965
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Anuria, Brain ...	ORPHA:544482
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,...	ORPHA:448237
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Encephalitis Lethargica	Urinary incontinence, Increased circulating antibody level, Autoimmunity	ORPHA:83600
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter, Obesity	ORPHA:3409
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In...	ORPHA:86816
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Autoimmunity, Renal salt was...	ORPHA:95409
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, M...	OMIM:618278
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Autoimmunity, Eosinophilia, Hy...	ORPHA:199299
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Small for gestational age, Hypospadias, Recurrent pneumonia, Dec...	OMIM:607143
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Intrahepatic cholestasis, Hyperbilirubinemia, Mild prote...	OMIM:619685
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Nephrot...	OMIM:251300
Ddost-Cdg	Hepatic steatosis, Failure to thrive, Nephrotic range proteinuria	ORPHA:300536
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Chilblains, Pneumon...	OMIM:615846
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu...	ORPHA:36238
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper...	OMIM:208500
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria...	OMIM:308940
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy...	ORPHA:88
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Hypercalcemia, Parathormone-independent in...	ORPHA:405
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Vici Syndrome	Renal tubular acidosis, Decreased circulating IgG2 level, Decreased circulating IgG level, Ureter...	ORPHA:1493
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Urachal cyst, Macrocytic anemia, Neutrophil...	OMIM:608203
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein c...	ORPHA:355
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Autoimmunity, Renal salt wasting, Decreased urina...	ORPHA:85138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:607155
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu...	ORPHA:293173
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas...	OMIM:612301
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circula...	OMIM:210900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	OMIM:616878
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, E...	OMIM:619991
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Anemia	OMIM:301500
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Autoimmune antibody posi...	ORPHA:99885
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Exocrine pancreatic...	OMIM:620005
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating total IgM, Failure to thrive, Anemia, Decr...	OMIM:620040
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod...	ORPHA:244242
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Aminoaciduria, Albuminuria, Prolonged...	OMIM:214100
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m...	ORPHA:2314
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:206549
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Lympha...	ORPHA:342
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ...	ORPHA:324
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Pheochromocytoma	Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot...	ORPHA:79330
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundi...	ORPHA:2331
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Iridoc...	OMIM:181000
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr...	ORPHA:79329
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Small for g...	ORPHA:99843
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Bardet-Biedl Syndrome 20	Proteinuria, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent...	ORPHA:343
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Melas	Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne...	ORPHA:550
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Poems Syndrome	Lymphadenopathy, Weight loss, Increased circulating antibody level, Thrombocytosis, Polycythemia	ORPHA:2905
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati...	OMIM:619534
Lassa Fever	Increased circulating IgM level, Jaundice, Conjunctivitis, Oliguria	ORPHA:99824
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or...	ORPHA:556
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki...	ORPHA:423
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Chronic Thromboembolic Pulmonary Hypertension	Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Elevated circulating C-reactiv...	ORPHA:70591
Agel Amyloidosis	Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Scleromyxedema	Paraproteinemia, Elevated circulating creatine kinase concentration, Abnormality of the kidney	ORPHA:167635
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Ohdo Syndrome	Proteinuria	OMIM:249620
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Chordee, Micropenis	OMIM:300519
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Failure to thrive in infancy, Proteinuria, Abnormality of the ...	ORPHA:2162
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib...	ORPHA:3132
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re...	OMIM:122470
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomeru...	OMIM:619127
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Micronodular cirrhosis, Proteinuria	OMIM:192315
Japanese Encephalitis	Hyponatremia, Neutrophilia, Increased circulating IgM level, Increased circulating antibody level...	ORPHA:79139
Dubowitz Syndrome	Hypospadias, Eczema, Aplastic anemia, Acute lymphoblastic leukemia, Otitis media, Hypocholesterol...	OMIM:223370
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Otitis media, Micr...	ORPHA:64
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Wagro Syndrome	Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Viss Syndrome	Chronic gastritis, Eczema, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis,...	OMIM:619472
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Decreased circulating IgG level, Small for gestational age, Erythroderma	OMIM:601675
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Small for gestational age, Proteinuria, Splenomegaly, Severe f...	OMIM:133540
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem...	ORPHA:761
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Chronic hepatitis,...	ORPHA:3260
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis, Hepatic steatosis	OMIM:619321
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Thymic hormone decreased, Micropeni...	OMIM:216400
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Okur-Chung Neurodevelopmental Syndrome	Failure to thrive, Decreased circulating IgG level, Decreased circulating IgA level, Decreased ci...	OMIM:617062
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Abnormality of ...	ORPHA:2750
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys...	ORPHA:95455
Aymé-Gripp Syndrome	Pericarditis, Proteinuria	ORPHA:1272
Pmm2-Cdg	Pericarditis, Proteinuria, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morpholog...	ORPHA:79318
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Periodontitis, Obesity	OMIM:619269
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Unilateral renal agenesis, Bilateral renal dysp...	ORPHA:500150
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Jaundice, Moderate albuminuria, Obesity	OMIM:614231
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency		ORPHA:404499
Spinocerebellar Ataxia, Autosomal Recessive 15		OMIM:615705

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 Rubcn

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 Rubcn.

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

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MGI Allele	Allele Type	Produced
Rubcn^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rubcn^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Rubcn^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Rubcn^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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