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Gene: Gadd45a MGI:107799

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

growth arrest and DNA-damage-inducible 45 alpha

Synonyms:

Ddit1

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 Gadd45a 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 Gadd45a (0 diseases)
Human diseases predicted to be associated with Gadd45a (701 diseases)

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

The table below shows human diseases predicted to be associated to Gadd45a 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, In...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro...	ORPHA:567544
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,...	ORPHA:3261
Immunodeficiency 24	Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased...	OMIM:615897
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A...	OMIM:619375
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglob...	ORPHA:98813
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat...	OMIM:615615
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Splenomegaly, Lymphoma, Bronchiectasis, Lymphadenopathy, Decreased circu...	ORPHA:397596
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, ...	OMIM:618394
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Anti-acetylc...	ORPHA:99867
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu...	OMIM:613779
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio...	OMIM:236000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, B-cell lymphoma, Splenomegaly, Bronchiectasis, Chr...	OMIM:616005
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM...	OMIM:153600
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic ...	OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ...	OMIM:618048
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ...	OMIM:617241
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Schnitzler Syndrome	Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Increased ...	ORPHA:37748
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym...	ORPHA:79087
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Non-Hodgkin lymphoma, Proteinuria, Autoimmunity, Lymphoproliferative disorder, Minim...	ORPHA:1830
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ...	ORPHA:91139
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymphocytic inters...	OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Autoimmune Hepatitis	Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle...	ORPHA:2137
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficie...	ORPHA:37042
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme...	OMIM:614380
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:83313
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py...	ORPHA:449395
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmunity, Follicular hyperplasi...	OMIM:614470
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin...	OMIM:619632
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepati...	OMIM:308230
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Neutropenia, Ly...	OMIM:300988
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ...	OMIM:243700
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep...	ORPHA:93552
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Recurrent bacterial skin infections, Abnormally low T cell recep...	ORPHA:276
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophi...	OMIM:619644
Transcobalamin Deficiency	Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti...	ORPHA:859
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positiv...	OMIM:615934
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti...	ORPHA:449400
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Retro...	ORPHA:49041
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ...	ORPHA:536
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio...	OMIM:618459
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural...	OMIM:300400
Idiopathic Pulmonary Hemosiderosis	Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Autoimmune antib...	ORPHA:99931
Caspase 8 Deficiency	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen...	OMIM:607594
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst...	OMIM:301080
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Anemia, Nephrotic syndrome, Foc...	OMIM:617303
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Brucellosis	Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Leukopenia, Increased circulating...	ORPHA:1304
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec...	ORPHA:331235
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Autoimmune hemolytic anemia, Abnormal T cell count, Skin rash, A...	ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Preeclampsia	Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries,...	ORPHA:275555
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula...	OMIM:616414
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia	ORPHA:375
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Arthritis, Increased circulating ...	ORPHA:448237
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti...	ORPHA:90060
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp...	OMIM:617388
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Immunodeficiency, Common Variable, 2	Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Lymphoma, Multiple myeloma, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
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, B-cell lymphoma, Autoimmune thr...	OMIM:102700
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Nephrotic syndrome, ...	OMIM:618999
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Increased circulat...	ORPHA:100024
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Reduced...	OMIM:242860
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi...	ORPHA:98849
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Pruritus, Ant...	ORPHA:562639
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti...	OMIM:616100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Recurrent skin infections, S...	OMIM:620210
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Insulin-Resistance Syndrome Type B	Osteoarthritis, Leukopenia, Increased circulating IgG level, Abnormal salivary gland morphology, ...	ORPHA:2298
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac...	OMIM:617575
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Cystic Echinococcosis	Abscess, Abnormality of the testis size, Eosinophilia, Renal cyst, Membranous nephropathy, Ovaria...	ORPHA:400
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Abnormali...	ORPHA:228123
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Autoimmunity, Proteinuria, Pruritus...	ORPHA:36412
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmunity, B-cell lym...	OMIM:613011
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem...	OMIM:617780
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne...	ORPHA:169160
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorc...	OMIM:242900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul...	OMIM:619752
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating...	OMIM:619510
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral cand...	ORPHA:275
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hydrocephalus, Hepatosplenomeg...	ORPHA:505248
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ...	ORPHA:2035
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Lymphaden...	ORPHA:911
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Autoimmunity, Cholangitis, Eosinophilia, Abnormality of the kidney, Increase...	ORPHA:449432
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Amyloidosis, Familial Visceral	Skin rash, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Hypereosinophilia, Increased circulating specific IgE ...	ORPHA:74
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Systemic lupus eryth...	OMIM:616871
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Webbed neck, Aminoaciduria, Neutropenia, Decreased platelet g...	OMIM:603585
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Renal insufficiency, ...	ORPHA:90291
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Cholestasis, Progressive Familial Intrahepatic, 12	Pruritus, Splenomegaly, Proteinuria	OMIM:620010
Whim Syndrome 1	Bronchiectasis, Decreased circulating antibody level, Neutropenia, Decreased circulating IgG leve...	OMIM:193670
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Leukocytosis,...	ORPHA:3392
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Spondyloenchondrodysplasia	Enchondroma, Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmunity, Autoi...	ORPHA:1855
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Sneddon Syndrome	Lymphopenia, Antiphospholipid antibody positivity, Decreased circulating total IgM	OMIM:182410
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disease, Renal hypo...	OMIM:614376
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Decreased cir...	OMIM:215250
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Panniculi...	OMIM:615758
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphade...	OMIM:301078
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an...	OMIM:616744
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope...	OMIM:618986
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Congenita...	ORPHA:77297
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Prolidase Deficiency	Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting ery...	OMIM:170100
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Renal insufficienc...	ORPHA:183
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia	OMIM:245900
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Myel...	ORPHA:486
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, St...	OMIM:618282
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ...	OMIM:619774
Primary Sclerosing Cholangitis	Renal insufficiency, Abnormal eosinophil morphology, Autoimmunity, Pruritus, Splenomegaly, Thyroi...	ORPHA:171
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Rift Valley Fever	Skin rash, Thrombocytopenia, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Incr...	ORPHA:319251
Q Fever	Rheumatoid factor positive, Cholecystitis, Lupus anticoagulant, Infectious encephalitis, Maculopa...	ORPHA:781
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Hepatitis, Endocarditi...	ORPHA:549
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c...	OMIM:613179
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Lymphoproliferative disorder, Recurrent p...	OMIM:614868
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced...	OMIM:614699
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Bloom Syndrome	Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased circulating IgG level, Decreas...	ORPHA:125
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum...	ORPHA:340
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Asplenia, Cervi...	OMIM:614034
Cednik Syndrome	Hypogonadism, Nephrotic syndrome, Proteinuria	ORPHA:66631
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia...	ORPHA:85450
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
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
Immunodeficiency 32B	Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutane...	OMIM:147060
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Systemic lup...	ORPHA:760
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis	ORPHA:2902
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Increased ...	OMIM:256550
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ...	OMIM:619164
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Neutrophilia, Proteinuria, Pancytopenia, Erythema nodosum, Myocarditis, Orchi...	ORPHA:99827
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Hematur...	ORPHA:77259
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Lead Poisoning	Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Chronic kidney disease, I...	ORPHA:330015
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Eosinophilia, Abnormality of the kidney, Keratitis, Orchitis, Antinuclear...	ORPHA:449563
Lassa Fever	Increased circulating IgM level, Menometrorrhagia, Conjunctivitis, Oliguria	ORPHA:99824
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ...	ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Anti-thyroid pero...	OMIM:615577
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease...	OMIM:613845
Cryoglobulinemic Vasculitis	Viral hepatitis, Renal insufficiency, Glomerulopathy, Proteinuria, Circulating immune complexes, ...	ORPHA:91138
Joubert Syndrome 15	Micropenis, Exencephaly, Nephronophthisis	OMIM:614464
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Nephrotic syn...	OMIM:607426
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased lymphocyte proliferation i...	ORPHA:221139
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Pancytopenia, Renal agenesis, Hypergonadotropic h...	OMIM:227650
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc...	ORPHA:567546
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Pseudo-Torch Syndrome 3	Proteinuria, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia	OMIM:618886
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,...	OMIM:300310
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Anemia	ORPHA:2668
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Primary Biliary Cholangitis	Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Pruritus, Hepatit...	ORPHA:186
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Ectop...	OMIM:600901
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increa...	OMIM:602450
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet...	OMIM:278760
Tempi Syndrome	Abnormality of the kidney, Increased circulating IgG level, Increased hematocrit, Hemangioma, Pol...	ORPHA:284227
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Myeli...	ORPHA:297
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Ectop...	OMIM:227645
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis, Decreased response to growth...	OMIM:618347
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa...	ORPHA:91500
Ataxia-Telangiectasia	Decreased circulating antibody level, Polycystic ovaries, Neoplasm, Lymphopenia, Abnormal testis ...	ORPHA:100
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Galactosemia I	Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, A...	OMIM:230400
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:612925
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Renal insufficiency, Abnormality of neutrophils, Splenomegal...	ORPHA:33226
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Arthritis, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea	OMIM:604250
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Functional abnormality of the bladder, T lymphocytopenia, ...	ORPHA:391487
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase anti...	ORPHA:64744
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome	OMIM:161200
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I...	ORPHA:347
Yellow Fever	Renal insufficiency, Acute pancreatitis, Anuria, Skin rash, Neutrophilia, Increased circulating i...	ORPHA:99829
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Decreased circulatin...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Decreased circulatin...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Decreased circulatin...	OMIM:612926
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Ectop...	OMIM:227646
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Renal insufficiency, Acute pancreatitis, Pericarditis, Chilblains, Proteinuria,...	OMIM:619487
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Infectious encephalitis, Increased circulating ant...	ORPHA:79139
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Atopic dermatitis, Glabellar hemangioma, L...	OMIM:618624
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,...	OMIM:275350
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Hyperg...	ORPHA:227990
Free Sialic Acid Storage Disease	Splenomegaly, Nephrotic syndrome, Proteinuria	ORPHA:834
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Ureteral steno...	ORPHA:900
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephr...	ORPHA:29073
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Renal artery aneurysm, Leukocytosis, Hepa...	OMIM:615688
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ...	ORPHA:83471
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Increased circulating antibody lev...	ORPHA:48377
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Abnormality of the kidney, Keratitis, Hematolo...	ORPHA:1163
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash...	ORPHA:227982
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, D...	OMIM:301050
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros...	OMIM:136680
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Bilateral cryptorchidism, Neoplasm of the skin, Neutropenia, Lym...	OMIM:616395
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, ...	ORPHA:449427
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Renal...	OMIM:212065
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Al Amyloidosis	Renal insufficiency, Proteinuria, Howell-Jolly bodies, Abnormality of the kidney, Renal interstit...	ORPHA:85443
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ...	ORPHA:650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Arthritis, Panni...	OMIM:617591
Glycogen Storage Disease Ib	Proteinuria, Pancreatic fibrosis, Splenomegaly, Nephrolithiasis, Gout, Focal segmental glomerulos...	OMIM:232220
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Pruritus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:613404
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Proteinuria, Vaginal neoplasm, Vulvar ne...	ORPHA:1018
Macrocephaly/Autism Syndrome	Penile freckling, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Recurrent...	OMIM:605309
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Neutropeni...	OMIM:607944
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Disseminated cutaneous warts, Decreased circulating antibody lev...	ORPHA:90362
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin...	OMIM:256500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymph...	ORPHA:139402
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Proteinuria, Normochromic anemia, Glomerular sclerosis, ...	ORPHA:247691
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Female hypogonadism, Decreased circulating IgG2 level...	OMIM:208900
Pneumocystosis	Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Neoplasm, Increa...	ORPHA:723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem...	OMIM:612924
Cowden Syndrome 1	Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hydroc...	OMIM:158350
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenome...	ORPHA:1572
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Or...	ORPHA:556
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosi...	OMIM:610377
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, B-cell lymphoma...	OMIM:619381
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Chronic neutropenia, Irregular menstruation, Enterocolitis, Ulcerative colitis, Gout...	ORPHA:79259
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos...	OMIM:232800
Alg12-Cdg	Hypospadias, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib)...	ORPHA:79324
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Myelodysplasia, ...	OMIM:617053
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Recurrent pneumoni...	ORPHA:508533
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ...	OMIM:619767
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eosinophilia, Eczema, Pruritus, Lymphoma, Increased circulating IgE lev...	ORPHA:2314
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased fertility in females, Cryptor...	OMIM:210900
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:276621
Acquired Generalized Lipodystrophy	Acute pancreatitis, Astrocytoma, Proteinuria, Autoimmunity, Abnormality of complement system, Lym...	ORPHA:79086
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancreatitis, Gout,...	OMIM:232240
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Myogl...	ORPHA:713
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia	OMIM:255125
Familial Mediterranean Fever	Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Lympha...	ORPHA:342
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney	ORPHA:369
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, B-cell lymphoma, Lymphoma, Decreased circulating ...	ORPHA:90363
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Microa...	OMIM:274150
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria	OMIM:251900
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Lung adenocarcinoma, Tubu...	OMIM:618913
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Umb...	OMIM:300519
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope...	OMIM:619525
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Cryptorchidism, Increased circulating IgE level, Abnormality of the ureter, ...	ORPHA:3409
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein...	ORPHA:29072
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidi...	OMIM:612541
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b...	OMIM:300908
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i...	ORPHA:90068
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Tubul...	ORPHA:33001
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Anemia	OMIM:301500
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the s...	OMIM:620040
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Cryptorchidism, Uveitis, Conjunctivitis, Male hypogonadism, Anemia	ORPHA:90321
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod...	ORPHA:634
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A...	ORPHA:51636
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Renal Nutcracker Syndrome	Dyspareunia, Proteinuria, Dysmenorrhea, Hematuria, Renal artery stenosis, Infertility, Microscopi...	ORPHA:71273
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Gaucher Disease Type 3	Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating antibody level,...	ORPHA:77261
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Myoglobinuria, Acute kidney injury	ORPHA:57
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni...	ORPHA:447
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Thrombocytopenia, Peritonitis, Leukocytosis, Schistocytosis, Hemoglobinu...	ORPHA:90038
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Hyperphosphaturia, Proteinuria, Thrombocytopenia, Osteoarth...	OMIM:277900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Osteootohepatoenteric Syndrome	Proteinuria, Pruritus, Hydrocephalus, Grade II vesicoureteral reflux, Anemia	OMIM:619377
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, T...	ORPHA:358
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil...	ORPHA:2260
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic ...	ORPHA:534
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Generalized Pustular Psoriasis	Renal insufficiency, Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosi...	ORPHA:247353
Donnai-Barrow Syndrome	Umbilical hernia, Proteinuria	ORPHA:2143
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Increased circulating IgE level	OMIM:616069
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Decreased circulating antibody level, Um...	ORPHA:2268
Alveolar Echinococcosis	Liver abscess, Cholangitis, Eosinophilia, Pancreatic cysts, Renal cyst, Abnormal spleen morpholog...	ORPHA:284
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Cryptorchidism, Thro...	OMIM:620005
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Hepati...	ORPHA:2331
Ohdo Syndrome	Cryptorchidism, Proteinuria	OMIM:249620
Melas	Hypoparathyroidism, Proteinuria, Hypogonadotropic hypogonadism, Focal segmental glomerulosclerosi...	ORPHA:550
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypochromic microcytic anemia, Renal insufficiency, Anemia, Mild proteinuria	OMIM:619147
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thicken...	OMIM:146255
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Renal tubular acidosis, O...	ORPHA:79240
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V...	OMIM:122470
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, Decreased re...	ORPHA:699
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruation, Polycystic...	ORPHA:264580
Avian Influenza	Lymphopenia, Pneumonia, Thrombocytopenia, Hepatitis, Leukopenia, Conjunctivitis, Acute kidney inj...	ORPHA:454836
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgG2 level, Decreased T cell ...	OMIM:242840
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Anuria, Increased circulating interleukin 6 concentration, Pneum...	ORPHA:544482
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocy...	ORPHA:508542
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hepatitis, He...	OMIM:194380
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Cryptorchidism, Recurrent pneumonia, Decreased circulating total IgM, Micropenis, De...	OMIM:607143
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma	OMIM:617425
Agel Amyloidosis	Proteinuria, Pruritus, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca, Abnormal splee...	ORPHA:85448
Mogs-Cdg	Decreased circulating antibody level, Hydrocele testis, Hepatosplenomegaly, Decreased circulating...	ORPHA:79330
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level	ORPHA:89843
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Poems Syndrome	Lymphoproliferative disorder, Abnormality of skin physiology, Lymphadenopathy, Increased circulat...	ORPHA:2905
Gaucher Disease	Pancytopenia, Osteomyelitis, Proteinuria, Thrombocytopenia, Osteoarthritis, Splenomegaly, Hydroce...	ORPHA:355
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Myoglobinu...	ORPHA:94093
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Tracheobronchial leio...	OMIM:308940
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T ...	ORPHA:3132
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri...	ORPHA:244242
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea...	OMIM:617718
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblai...	OMIM:615846
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Proteinuria, Cryptorchidism, Abnormality of the spleen, Hydro...	ORPHA:2162
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Renal insufficiency, Skin rash, Maculopapular exanthema, Lymphopen...	ORPHA:99826
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Orchitis, Pustule, Hem...	ORPHA:761
Cystinosis, Nephropathic	Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, St...	OMIM:219800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Lujo Hemorrhagic Fever	Lymphopenia, Renal insufficiency, Skin rash, Maculopapular exanthema, Myocarditis, Fulminant hepa...	ORPHA:319213
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr...	ORPHA:83617
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Interstitial Lung Disease 2	Alveolar cell carcinoma, Increased circulating antibody level	OMIM:178500
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Cryptorchidism, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Thrombo...	OMIM:620365
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Encephalitis Lethargica	Urinary incontinence, Increased circulating antibody level, Autoimmunity	ORPHA:83600
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia, Primary amenorrhea	OMIM:191830
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Renal Fanconi syndrome, Proteinuria, Glycosuria	ORPHA:263455
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Eczema, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Oti...	OMIM:223370
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Hemoglobinuria, Normochromic anemia, Cholecystitis, Nonspherocyt...	OMIM:611881
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Skin rash, Pustule, Myocarditis, Antinuclear antibody positivity, Ce...	ORPHA:50918
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly	ORPHA:2211
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Cryoglobulinemia, Abnormal renal physiology	OMIM:123550
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Lymphadenopathy, ...	OMIM:617827
Wagro Syndrome	Multiple exostoses, Nephroblastoma, Proteinuria, Decreased testicular size	OMIM:612469
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e...	OMIM:619573
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Enlarged kidney, Pancreat...	OMIM:232200
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increase...	OMIM:127550
Myotonic Dystrophy 2	Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti...	OMIM:602668
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna...	ORPHA:728
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Hydrocephalus, Red-brown urine, Renal tubular epithel...	ORPHA:228308
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Syndromic Diarrhea	Gastritis, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Colitis, Hypoplasia of...	ORPHA:84064
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hydrocephalus, Recurrent pneumonia, Decreased circulating total IgM, Decreased circ...	OMIM:612301
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine level	OMIM:171420
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Hypotrichosis Simplex Of The Scalp	Pruritus, Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level	ORPHA:90368
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Nephrotic syndrome, Nephr...	ORPHA:324
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Galloway-Mowat Syndrome	Aqueductal stenosis, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Genetic Recurrent Myoglobinuria	Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla...	ORPHA:2969
Vici Syndrome	Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Decreased circulating ...	ORPHA:1493
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Iridocyclitis, Media...	OMIM:181000
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Enuresis nocturna, Arthritis, Decrea...	ORPHA:420741
Reynolds Syndrome	Erythema nodosum, Antinuclear antibody positivity, Splenomegaly, Pruritus, Anti-centromere antibo...	OMIM:613471
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Irregular menstruation, Normal pr...	OMIM:216400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Mild proteinuria	OMIM:619685
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Umbilical hernia, Proteinuria	OMIM:222448
Hennekam Syndrome	Benign neoplasm of the central nervous system, Ectopic kidney, Splenomegaly, Horseshoe kidney, Ly...	ORPHA:2136
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess...	OMIM:301074
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Pituitary corticotropic cell adenoma...	ORPHA:96253
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic fibrosis, Pancreatic cysts, Chronic kidney disease, ...	OMIM:208500
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Decreased circulating IgG ...	OMIM:613070
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity	ORPHA:90003
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Pheochromocytoma	Proteinuria, Elevated urinary norepinephrine level, Neoplasm, Pheochromocytoma, Renal artery sten...	OMIM:171300
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypercalciuria, Renal cyst, Nephrocalcinosis, Decreased circulating total IgM...	ORPHA:369837
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Normal pressure hydrocephalus, Mi...	OMIM:133540
Trichothiodystrophy	Defective DNA repair after ultraviolet radiation damage	ORPHA:33364
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Cryptorchidism, Hydrocephalus, Breast hypoplasia	ORPHA:1272
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen...	OMIM:618460
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stom...	ORPHA:343
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Micropenis, Pancreatitis	OMIM:619471
Viss Syndrome	Exostosis of the external auditory canal, Chronic gastritis, Eczema, Increased circulating IgE le...	OMIM:619472
Scleromyxedema	Pruritus, Paraproteinemia, Abnormality of the kidney, Multiple myeloma	ORPHA:167635
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst...	OMIM:311200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pne...	ORPHA:95455
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo...	ORPHA:797
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Autoimmune antibody positivity, Renal tubular ...	ORPHA:99885
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria	OMIM:201475
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:278800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H...	OMIM:618278
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Pancreatic c...	ORPHA:2750
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Hydrocephalus, Decreased circulating total IgM, Annular pancreas	OMIM:618162
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Trichothiodystrophy 1, Photosensitive	Squamous cell carcinoma, Keratoconjunctivitis sicca, Basal cell carcinoma, Hypogonadism, Erythrod...	OMIM:601675
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Elevated hemoglobin A1c	OMIM:619127
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Williams Syndrome	Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref...	ORPHA:904
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Retinal hamar...	ORPHA:744
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Nk-Cell Enteropathy	Increased T cell count, Lymphoproliferative disorder	ORPHA:263665
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Pruritus, Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Proteinuria	OMIM:616682
Pmm2-Cdg	Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone con...	ORPHA:79318
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Cryptorchidism, Moderate albuminuria, Hypogonadism	OMIM:614231
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Okur-Chung Neurodevelopmental Syndrome	Umbilical hernia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased cir...	OMIM:617062
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Bilateral renal dysplasia, Unilateral renal agenesis, Secretory IgA deficienc...	ORPHA:500150

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 Gadd45a

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 Gadd45a.

No publications found that use IMPC mice or data for Gadd45a.

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MGI Allele	Allele Type	Produced
Gadd45a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Gadd45a^{tm214749(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors

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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