Gene: Ccr1 MGI:104618

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

C-C motif chemokine receptor 1

Synonyms:

Cmkbr1

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 Ccr1 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 Ccr1 (1 diseases)
Human diseases predicted to be associated with Ccr1 (999 diseases)

The table below shows human diseases associated to Ccr1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Behçet Disease		Acne, Recurrent aphthous stomatitis, Pleural effusion, Splenomegaly, Renal insufficiency, Infecti...	ORPHA:117

The table below shows human diseases predicted to be associated to Ccr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd...	OMIM:617006
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec...	OMIM:618204
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti...	OMIM:613860
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs...	OMIM:608957
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn...	OMIM:613779
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz...	OMIM:613953
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ...	OMIM:614817
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Recurrent infections, Thrombocytopenia	OMIM:614493
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo...	OMIM:608709
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
C1Q Deficiency 1	Recurrent infections, Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus eryt...	OMIM:613652
Systemic Lupus Erythematosus 16	Decreased circulating complement C3 concentration, Decreased circulating complement C4 concentrat...	OMIM:614420
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm...	ORPHA:90283
Immunodeficiency 24	Decreased circulating IgG level, Reduced proportion of mucosal-associated invariant T cells, Part...	OMIM:615897
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c...	OMIM:613913
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Recurrent infection of the gastrointestinal tract...	OMIM:137100
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency 48	Panhypogammaglobulinemia, Recurrent candida infections, Abnormal B cell count, Splenomegaly, Impa...	OMIM:269840
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k...	ORPHA:656
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Art...	OMIM:616414
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Immunodeficiency 32B	Recurrent infections, Pneumonia, BCGitis, Impaired oxidative burst, Abnormal circulating IgG leve...	OMIM:226990
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec...	ORPHA:169154
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re...	OMIM:619220
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a...	OMIM:614380
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity	OMIM:620425
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Hyperprolinemia Type 1	Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria	ORPHA:419
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,...	OMIM:618944
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis	OMIM:216950
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos...	OMIM:616730
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp...	ORPHA:2134
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous ...	OMIM:612567
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Decreased proportion of CD4-positive T cell...	OMIM:619374
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce...	ORPHA:439232
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Immotile sperm, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio...	OMIM:619858
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Nephrotic syndrome, Hemophagocytosis, Abnormal pulmonary inter...	OMIM:619644
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre...	OMIM:300400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Hemolytic anemia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis...	OMIM:152700
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t...	OMIM:613495
Immunoglobulin A Deficiency 2	Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent sinopulmonary infections	OMIM:609529
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased...	ORPHA:449395
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,...	OMIM:256300
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Microlissencephaly	Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss...	ORPHA:1083
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl...	OMIM:613494
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ...	OMIM:607594
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re...	ORPHA:319552
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi...	OMIM:619436
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag...	OMIM:615214
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Acute Lung Injury	Sepsis, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentrati...	ORPHA:178320
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis, Increased alpha-globulin	OMIM:235900
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Linear Iga Dermatosis	Inflammation of the large intestine, Autoimmunity	ORPHA:46488
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Pulmonary hemorrha...	ORPHA:93126
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections...	OMIM:608971
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ...	OMIM:601457
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c...	OMIM:618459
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, IgA...	OMIM:618348
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc...	OMIM:260570
Nail-Patella-Like Renal Disease	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:2613
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati...	OMIM:618935
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Anemia, Decreased circ...	ORPHA:231111
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lympho...	OMIM:617575
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Nephrotic syndrome, Viral hepatitis, Paraprot...	ORPHA:91139
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis factor secr...	ORPHA:70578
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ...	ORPHA:94059
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt...	ORPHA:859
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis...	OMIM:620565
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator...	OMIM:209950
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin...	OMIM:615816
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent respiratory infections, E...	OMIM:300635
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Bronchiectasis, Decreased specific anti-polys...	OMIM:300853
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat...	ORPHA:470
Autoimmune Hepatitis	Inflammation of the large intestine, Increased total bilirubin, Splenomegaly, Sclerosing cholangi...	ORPHA:2137
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar...	OMIM:614699
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c...	ORPHA:540
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint...	OMIM:608184
Immunodeficiency 37	Colitis, Recurrent infections, Infectious encephalitis	OMIM:616098
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida...	ORPHA:217390
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Enterocolitis, Nephrotic syndrom...	OMIM:301108
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Hyperur...	OMIM:613845
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Decreased circulating total IgM, Telangiectases of ...	OMIM:615139
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Focal segmental glo...	OMIM:617303
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis...	ORPHA:911
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly...	OMIM:618495
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Abnormal lympho...	ORPHA:99867
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased proporti...	OMIM:617241
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, C...	ORPHA:397596
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Ileal ulcer, Colitis, Anterior u...	OMIM:616744
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria	OMIM:618347
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, Recu...	OMIM:615617
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome...	ORPHA:567546
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Inflammation...	ORPHA:436159
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Increa...	OMIM:614034
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concentra...	ORPHA:36234
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency, Common Variable, 11	Crohn's disease, Recurrent respiratory infections, Inflammation of the large intestine, Mucoid di...	OMIM:615767
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Nephrotic syndrome, Reduced delayed hypersensitivity, Malar rash, Autoimmune hemolytic...	OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Failure to thrive sec...	ORPHA:169160
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy...	OMIM:618999
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Recurrent sinusiti...	OMIM:616576
Mounier-Kühn Syndrome	Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis	ORPHA:3347
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Lissencephaly	OMIM:619466
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Conjunctivitis, Impaired T cell function, R...	OMIM:240500
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul...	ORPHA:1652
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:618806
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ...	OMIM:245900
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Acquired Partial Lipodystrophy	Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulating complement C3 concentration, Mi...	ORPHA:79087
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res...	OMIM:614069
Schimke Immuno-Osseous Dysplasia	Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom...	ORPHA:1830
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t...	ORPHA:48435
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Skin rash, Splenomegaly, Hematuria, Proteinuria, Nephrotic syndrome	OMIM:105200
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria...	OMIM:193670
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Pancytopenia, Elevated circulating creatine kinase concentrat...	OMIM:607426
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia	OMIM:616022
X-Linked Immunoneurologic Disorder	Abnormal pleura morphology, Functional abnormality of the bladder, Decreased circulating IgG2 lev...	ORPHA:2571
Cystic Echinococcosis	Peritoneal abscess, Pulmonary cyst, Hyperbilirubinemia, Splenic cyst, Abscess, Increased circulat...	ORPHA:400
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria...	ORPHA:169079
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Recurrent lower respiratory tract infections,...	OMIM:613179
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:306400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Mem...	ORPHA:251004
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurrent respiratory infections, Panhypog...	OMIM:615207
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt...	ORPHA:444463
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Monocytopenia, Recurren...	OMIM:615206
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop...	OMIM:235400
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre...	OMIM:612783
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Myocardial infarction, Recurrent lower respiratory tract ...	ORPHA:60033
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Conjugate...	OMIM:620010
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Hypophosphatemic rickets, Stage 5 chronic kidney disease, L...	OMIM:618913
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, ...	OMIM:215250
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ...	OMIM:242900
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Skin rash, Gastritis, Perianal abscess, Recurrent ...	OMIM:618108
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine con...	ORPHA:49041
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Pleural effusion, Renal insuffi...	OMIM:254900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Chronic diarrhea, Crohn's disease, Recurrent sinopulmonary infections, Colitis, P...	OMIM:618394
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Radiation Proctitis	Hematochezia, Diarrhea, Sepsis, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstr...	ORPHA:70475
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Pneumonia, Nephropathy, Elevated circulating creatinine concentration, Skin ra...	ORPHA:247691
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat...	OMIM:232240
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ...	ORPHA:37202
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Pulmonary edema, Hematuria, Glomerulonephritis, Tubulo...	ORPHA:340
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Recurrent aphthous stomatitis, Au...	ORPHA:275
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt...	OMIM:619774
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Invasive fungal infection, Sept...	ORPHA:449280
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia	ORPHA:375
Immunodeficiency 76	Colitis, Recurrent pneumonia, Chronic diarrhea, Recurrent bronchiolitis	OMIM:619164
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Alopecia Totalis	Inflammation of the large intestine, Autoimmunity	ORPHA:700
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration...	OMIM:618048
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia	ORPHA:2668
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Acute pancreatitis, Thickened glomerular basement membrane, Recurrent urinary tr...	OMIM:619487
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant ...	OMIM:618282
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increased circulatin...	ORPHA:289390
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Autoimmune thr...	ORPHA:331235
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis, Pleuritis	OMIM:134610
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma	ORPHA:542592
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome	OMIM:614652
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Hyperlipidemia, H...	OMIM:232200
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi...	OMIM:615451
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Ciliary Dyskinesia, Primary, 11	Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Reduced sperm motility, Recurrent resp...	OMIM:612649
Boutonneuse Fever	Leukopenia, Renal insufficiency, Skin rash, Maculopapular exanthema, Thrombocytopenia, Increased ...	ORPHA:83313
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
T-Cell Immunodeficiency With Thymic Aplasia	Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid dermatitis, Recurrent candi...	ORPHA:83471
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:276621
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A...	ORPHA:26790
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c...	OMIM:613501
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Recurrent infections due to aspiration, Glomerular...	OMIM:223900
Lymphatic Filariasis	Urethral obstruction, Nephrotic syndrome, Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoa...	ORPHA:2035
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t...	OMIM:619752
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Recurrent pneumonia, Sepsis, Inflammation of the large intestine, ...	OMIM:614700
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex...	ORPHA:98848
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration	ORPHA:930
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule...	ORPHA:839
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent sinusitis, Rhinitis, Rec...	OMIM:615504
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen	OMIM:617872
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy...	OMIM:618987
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Immunodeficiency 65, Susceptibility To Viral Infections	Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis	OMIM:618648
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne...	ORPHA:277
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis	OMIM:617091
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Immotile sperm, Reduced sperm motility...	OMIM:612650
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Septic arthritis, Recurrent enteroviral infections, Conjunctivitis, Enteroviral dermat...	OMIM:307200
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s...	OMIM:214500
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Decreased circulating complement C3 concentration,...	ORPHA:90060
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Cryoglobulinemia, Hematuri...	OMIM:123550
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Decreased circulating IgG2 level	OMIM:300076
Ciliary Dyskinesia, Primary, 51	Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm motility, Reduced sperm motility...	OMIM:620438
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Autoimmuni...	OMIM:243150
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Pulm...	OMIM:233450
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Otitis media, Recurrent sinusitis	OMIM:618781
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai...	OMIM:613470
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis	OMIM:300991
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Multiple Myeloma	Nephropathy, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine concentrati...	ORPHA:29073
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Reduced sperm motility...	OMIM:615500
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Chronic bronchitis, Bronchiectasis, Recurrent bronchiolitis	OMIM:613021
Eosinophilopenia	Allergic rhinitis, Autoimmunity	OMIM:131430
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia	OMIM:619126
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Tempi Syndrome	Polycythemia, Increased hematocrit, Transudative pleural effusion, Abnormality of the pulmonary v...	ORPHA:284227
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Pleural effusion, Otitis media, Increa...	ORPHA:3392
Isolated Agammaglobulinemia	Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Otitis media, Skin r...	ORPHA:229717
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Secondary Short Bowel Syndrome	Diarrhea, Sepsis, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal smal...	ORPHA:95427
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a...	OMIM:106300
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Reduced erythrocyt...	OMIM:230400
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradyc...	ORPHA:70587
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Neonatal Alloimmune Neutropenia	Pneumonia, Meningitis, Severe infection, Sepsis	ORPHA:464370
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:29072
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Pustule, Myositis, Anemia, Increas...	OMIM:615934
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 46	Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibod...	OMIM:616740
Senior-Loken Syndrome 8	Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn...	OMIM:616307
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratitis, Increased circu...	OMIM:617388
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Preeclampsia	Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal...	ORPHA:275555
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Renal insufficie...	ORPHA:549
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anem...	ORPHA:93552
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Immotile sper...	OMIM:613808
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Blepharitis, Skin rash, C...	OMIM:617718
Hypocomplementemic Urticarial Vasculitis	Emphysema, Reduced circulating complement concentration, Episcleritis, Pleural effusion, Splenome...	ORPHA:36412
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Synovitis, Pustu...	ORPHA:77297
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u...	ORPHA:230
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocyto...	OMIM:603585
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Elevated circula...	ORPHA:90291
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto...	ORPHA:167
Autosomal Agammaglobulinemia	Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag...	ORPHA:33110
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Diarrhea, Protracted diarrhea, Acute otitis media, Autoimmune thrombo...	ORPHA:572
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Recurrent viral infections, Eczematoid dermatitis, Pyoderma, Emphysema, Redu...	OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri...	OMIM:276700
Cryoglobulinemic Vasculitis	Renal insufficiency, Splenomegaly, Cryoglobulinemia, Hematuria, Proteinuria, Glomerulopathy, Kera...	ORPHA:91138
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:620514
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Eosinophilic infiltration...	OMIM:620532
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis	OMIM:619603
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Autoimmunity, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, R...	OMIM:301110
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Interface hepatitis, Anti-liver cytosolic antigen type 1 ant...	ORPHA:562639
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Elevated circulating C-reactive protein concentr...	ORPHA:91500
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Decrease...	OMIM:620321
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti...	OMIM:618131
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces...	ORPHA:411696
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Foot osteomyelitis, Sepsis, Cutaneous abscess, ...	ORPHA:31202
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer...	OMIM:617729
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria...	ORPHA:447
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Recurrent lower respirato...	OMIM:308230
Bullous Pemphigoid	Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant...	ORPHA:703
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Giant cell hepatitis, Nephrocalcinosis, Aminoaciduria, Glycosuria, Renal tubular aci...	OMIM:613404
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