Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
scavenger receptor class F, member 1
Synonyms:
SREC,  SREC-I

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Scarf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Scarf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Autoimmunity, Nephrotic syndrome, Prot... OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia,... OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Acquired Partial Lipodystrophy
Generalized hirsutism, Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Microscopic ... ORPHA:79087
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
C3 Glomerulopathy
Decreased serum complement C4, Autoimmunity, Glomerular extracapillary hypercellularity, Nephroti... ORPHA:329918
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:601859
Idiopathic Non-Lupus Full-House Nephropathy
Decreased serum complement C4, Nephrotic syndrome, Elevated circulating creatinine concentration,... ORPHA:567544
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, In... OMIM:618495
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Rheumatoid factor pos... OMIM:209950
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased circulating IgG level, Increased proportion... OMIM:618982
Pediatric Systemic Lupus Erythematosus
Decreased serum complement C4, Proteinuria, Malar rash, Dark urine, Ascites, Lymphopenia, Thrombo... ORPHA:93552
Atypical Hemolytic Uremic Syndrome
Hematuria, Proteinuria, Acute kidney injury, Complement deficiency, Abnormality of complement sys... ORPHA:2134
Drug-Induced Lupus Erythematosus
Decreased serum complement C4, Hematuria, Autoimmune antibody positivity, Lupus anticoagulant, In... ORPHA:231111
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Renal insufficie... OMIM:613779
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:169154
C1Q Deficiency
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Decreased s... OMIM:613652
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Proteinuria, Acute kidney injury, Glomerulonephrit... OMIM:615008
Urachal Cyst
Leukocytosis, Hematuria, Dysuria, Peritonitis, Pyuria, Abdominal mass, Elevated circulating C-rea... ORPHA:488
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Antimitoch... OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Autoimmunity, Lack of ... ORPHA:277
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephri... OMIM:152700
Sting-Associated Vasculopathy, Infantile-Onset
Rheumatoid factor positive, Periungual erythema, Anemia, Malar rash, Lymphopenia, Skin rash, Leuk... OMIM:615934
Autoimmune Hepatitis
Viral hepatitis, Ascites, Ulcerative colitis, Sclerosing cholangitis, Jaundice, Inflammation of t... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased circulating IgG level, Uveitis, Rheumatoid factor positive, Autoimmune he... ORPHA:3261
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Cholestasis, Splenomegaly, Hepatomegaly, Nephropathy,... OMIM:105200
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Abnormal circulating lipid concentration, Decreased s... OMIM:608709
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Insuli... ORPHA:37042
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Scleritis, Renal neutrop... ORPHA:91500
Kerion Celsi
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Alopecia, Recur... ORPHA:499
Diffuse Alveolar Hemorrhage
Decreased serum complement C4, Autoimmunity, Leukocytosis, Rheumatoid factor positive, Hematuria,... ORPHA:90060
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hep... OMIM:614470
Alopecia Areata 1
Autoimmunity, Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis OMIM:104000
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Proteinuria, Anemia, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Igg4-Related Kidney Disease
Decreased serum complement C4, Rheumatoid factor positive, Elevated circulating creatinine concen... ORPHA:449395
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy, Alopecia OMIM:114580
Kawasaki Disease
Leukocytosis, Proteinuria, Arthritis, Cholecystitis, Sterile pyuria, Myocarditis, Abnormality of ... ORPHA:2331
Complement Component 4A Deficiency
Decreased serum complement C4, Glomerulonephritis, Systemic lupus erythematosus, Reduced hemolyti... OMIM:614380
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Nephrotic ... ORPHA:91139
X-Linked Lymphoproliferative Disease
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Histiocytosis, Absent natural killer... ORPHA:2442
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Pruritus, Uveitis, Hematuria, Proteinuria, Arthritis, Inflammatory abnormality of t... ORPHA:36412
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Rheumatoid factor positive, Decreased eosinophi... OMIM:619632
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Increased cir... ORPHA:100024
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Q Fever
Rheumatoid factor positive, Antimitochondrial antibody positivity, Maculopapular exanthema, Anemi... ORPHA:781
Complement Factor H Deficiency
Hematuria, Chronic kidney disease, Glomerular subendothelial electron-dense deposits, Thickened g... OMIM:609814
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity,... ORPHA:90283
Thymoma
Autoimmunity, Myositis, Abnormal lymphocyte proliferation, Leukemia, Abnormal lymphocyte physiolo... ORPHA:99867
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Eczema, Recurrent urinary tract infections, Ly... OMIM:300988
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Hydronephrosis, Increased inflammatory response, Increased circu... ORPHA:449400
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid factor positive, Unilateral renal hypoplasia, Elevated circulating creatinine concentr... ORPHA:49041
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, S... ORPHA:444463
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Proteinuria, Decreased serum creatinine, Renal insufficiency, Ret... ORPHA:54057
Immunodeficiency, Common Variable, 2
Autoimmunity, Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgG level, Splen... OMIM:240500
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Hyperlipidemia, Bone marrow hypocellularity, Proteinuria, Abnormal proportion of na... ORPHA:1830
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pruritus, Leukocytosis, Nephrotic syndrome, Pneumon... ORPHA:39041
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hematuria, Proteinuria, Thrombocytosis, Coombs-posi... OMIM:614034
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Increased circulating IgG level, Increased circul... OMIM:617388
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... OMIM:619644
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Rheumatoid factor positive, Increased circulating ... OMIM:615816
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Decreased serum complement C3, Membranoproliferative ... OMIM:613913
Preeclampsia
Autoimmunity, Elevated circulating creatinine concentration, Acute kidney injury, Proteinuria, Ab... ORPHA:275555
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Anemia, Membranous nephropathy, Pancreatitis, Thr... ORPHA:470
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Autoimmune antibody positivity, Glo... ORPHA:99931
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, T lymphocytopenia, Nail pits, Ridged nail ORPHA:169095
Fechtner syndrome
Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Nephritis, Neutrophil inclus... OMIM:153640
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Panhypogammaglobulinemia OMIM:269840
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Complement deficiency, Arthritis OMIM:216950
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulat... OMIM:606367
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive... ORPHA:331206
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Autoimmunity, Arthritis, Agammaglobulinemia, Hypocalcemia, Thromb... ORPHA:47
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Proteinuria, Acute kidney in... ORPHA:93126
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aci... ORPHA:859
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Renal tubular atrophy, Hypoalbuminemia, Focal segment... OMIM:618349
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Decreased circulating total IgM, Incre... OMIM:243700
Lesch-Nyhan Syndrome
Hematuria, Hyperuricemia, Anemia, Renal insufficiency, Gout ORPHA:510
Insulin-Resistance Syndrome Type B
Glycosuria, Autoimmunity, Biliary cirrhosis, Proteinuria, Thrombocytopenia, Skin rash, Leukopenia... ORPHA:2298
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Proteinuria, Splenomegaly, Acne, Hepatomegaly, Osteo... ORPHA:77297
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Autoimmune thr... OMIM:616100
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Ascites, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy,... ORPHA:100025
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Elevated circulating C-reactive protein concentration, Crescentic glo... OMIM:616414
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Abnormality of the lymph nodes, Hepatosplenomegaly, Nephrotic syndrome, Pneumonia, ... ORPHA:911
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmunity, Increased circulating ferritin concentration, Decreased circulating I... OMIM:613011
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Eosinophilic liver infiltration, Colonic eo... OMIM:618999
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Ke... ORPHA:91138
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Hereditary Xanthinuria
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... ORPHA:3467
Postinfectious Vasculitis
Viral hepatitis, Rheumatoid factor positive, Gastrointestinal inflammation, Proteinuria, Inflamma... ORPHA:48435
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Hematuria, Proteinuria, Infectious encephalitis, Endoc... ORPHA:549
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Recurrent skin infections, Erythema n... OMIM:300635
Prolidase Deficiency
Recurrent pneumonia, Splenomegaly, Systemic lupus erythematosus, Hepatomegaly, Eczema, Anemia, In... OMIM:170100
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Hematuria, Proteinuria, Biliary tract obstruction, Splenomegaly, Osteoa... ORPHA:77259
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Acute kidney injury, Hemol... OMIM:612926
Acne Inversa, Familial, 3
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Brucellosis
Rheumatoid factor positive, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess,... ORPHA:1304
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Antimitochondrial antibody positivity, Cholestasis, Interface hepatitis, Hyperbilirubinemia, Ulce... ORPHA:562639
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Abnormality of the nail, Pruritus, Splenomegaly, Hepatomegaly, Ec... ORPHA:2584
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Increased circulat... ORPHA:69126
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Hematuria, Benign Familial
Hematuria, Thin glomerular basement membrane OMIM:141200
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombo... ORPHA:69077
Spondyloenchondrodysplasia
Pancytopenia, Autoimmunity, Anti-dsDNA antibody positivity, Pneumonia, Hematuria, Proteinuria, Au... ORPHA:1855
Sézary Syndrome
Abnormal lymphocyte morphology, Pruritus, Abnormal immunoglobulin level, Splenomegaly, Hepatomega... ORPHA:3162
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Atopic derm... OMIM:615846
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Nephrotic syndrome, Acute pancreatitis,... OMIM:618935
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Hash... ORPHA:275
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the pancreas, Biliary tract obstruction, Hepatomegaly, J... ORPHA:400
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Alopecia, Sparse pubic hair, Sparse axillary hair, Sparse scalp hair ORPHA:505
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Nail pits, Nail dystrophy, Alopecia, Decreased helper T cell proportion, Ridge... OMIM:601705
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic art... OMIM:617780
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Pruritus, Recurrent skin infections, Bronchiectasis, Eczema... OMIM:618282
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Hypoalbuminemia, F... ORPHA:656
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Anemia, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segme... OMIM:603278
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia,... ORPHA:227990
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased... ORPHA:169160
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Proteinuria, Glomerulopathy, Micros... ORPHA:84090
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Decreased serum iron, Deep dermatophytosis, Lymphadenopathy, Chronic oral cand... OMIM:212050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Sinusitis, Myositis, Autoimmunity, Hematuria, Proteinuria, Increased inflammatory r... ORPHA:183
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Proteinuria, Anemia, Thrombocytopenia, Recurrent pneumonia, Leukopenia, Low anterior... OMIM:617303
Relapsing Fever
Leukopenia, Leukocytosis, Hematuria, Acute kidney injury, Elevated circulating creatinine concent... ORPHA:91547
Cryofibrinogenemia, Familial Primary
Transient nephrotic syndrome, Hematuria OMIM:123540
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Protein... OMIM:274150
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Thrombocytopen... OMIM:254900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Supernumerary nippl... OMIM:614376
Schnitzler Syndrome
Pruritus, Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymp... ORPHA:37748
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive hel... ORPHA:572
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Microscopic Polyangiitis
Oliguria, Sinusitis, Autoimmunity, Uveitis, Hematuria, Arthritis, Peritonitis, Increased inflamma... ORPHA:727
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Decreased circulating IgA level, Mucopol... OMIM:215250
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:616730
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Sparse hair, Abnormal fingernai... ORPHA:2722
Alopecia Areata 2
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis OMIM:610753
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, A... OMIM:603554
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Transient neutropenia, Agammagl... OMIM:619707
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid art... ORPHA:331235
Igg4-Related Submandibular Gland Disease
Eosinophilia, Autoimmunity, Increased circulating IgG level, Cholangitis, Increased circulating I... ORPHA:449432
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia,... ORPHA:227982
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Arthralgia/arthritis,... ORPHA:411593
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Inc... OMIM:613179
Hypotrichosis 5
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair OMIM:612841
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Increased circulating myelocyte count, Recurrent u... ORPHA:36234
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Diffuse mesangial sclerosis, Reduced red cell adenosine deaminase level, Recurrent ... OMIM:102700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased proportion o... OMIM:618969
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Trimethylaminuria
Recurrent pneumonia, Trimethylaminuria, Splenomegaly, Neutropenia, Anemia OMIM:602079
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:618348
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria... ORPHA:251004
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Alopecia universalis, Congenital alopecia totalis OMIM:104130
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Immunodeficiency 36
Autoimmunity, Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Chronic lymphat... OMIM:616005
Immunodeficiency 17
Eczema, Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion of CD8-positive... OMIM:615607
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic s... OMIM:235400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Coarse hair, Proteinuria, Abnormal immunoglobulin level, Fine hair, Thrombocy... OMIM:242900
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Abnormal hair morphology, Neonatal ... OMIM:152800
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level OMIM:617744
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous ... ORPHA:3392
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:615577
Juvenile Arthritis
Thrombocytosis, Antinuclear antibody positivity, Leukocytosis, Skin rash OMIM:618795
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Orotic Aciduria
Oroticaciduria, Hematuria, Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, I... OMIM:258900
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Inflammation of the large intestine, Decreased ... OMIM:615767
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Decreased specific antibody response to protei... ORPHA:70593
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Systemic Sclerosis
Anti-topoisomerase I antibody positivity, Pruritus, Recurrent skin infections, Acute kidney injur... ORPHA:90291
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Leukope... OMIM:618986
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Auto... ORPHA:229717
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Pulmonary Nodular Lymphoid Hyperplasia, Familial
IgA deposition in the glomerulus, Systemic lupus erythematosus, Rheumatoid arthritis, Increased c... OMIM:178610
Mixed Connective Tissue Disease
Autoimmunity, Myositis, Leukopenia, Arthritis, Gastritis, Splenomegaly, Myocarditis, Hepatomegaly... ORPHA:809
Alopecia Universalis
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow ORPHA:701
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Hypertriglyceridemia, Renal insufficiency, Normochromic anemia, De... OMIM:245900
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, ... OMIM:608184
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Fine hair, Synophrys, ... OMIM:619428
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyelashes, Renal insufficiency, Sparse eyebrow, Chronic kidney disease, Pulmonary lymphang... OMIM:137940
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Lymphatic Filariasis
Nephrotic syndrome, Hypereosinophilia, Hematuria, Proteinuria, Lymphadenitis, Orchitis, Knee oste... ORPHA:2035
Macrophage Activation Syndrome
Autoimmunity, Abnormality of tumor necrosis factor secretion, Anemia, Hepatitis, Increased serum ... ORPHA:158061
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Micropenis, Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Primary Sjögren Syndrome
Decreased serum complement C4, Optic neuritis, Biliary cirrhosis, Chronic hepatitis, Decreased pr... ORPHA:289390
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Recurrent pneumonia, Pneumonia, Coarse hair, Hematuria, Nail dysplasia, Chronic mon... OMIM:158310
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria OMIM:120433
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Maculopapular exanthema, Anemia, Increased serum ... ORPHA:540
Immunodeficiency 31C
Autoimmunity, Autoimmune hemolytic anemia, Eczema, Lymphopenia, Chronic mucocutaneous candidiasis OMIM:614162
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia OMIM:614928
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Rheumatoid factor positive, Splenomegaly, Hepatomegaly, Recurrent tonsillitis,... OMIM:618852
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormality of the periungual region, Abnormal lymphocyte morphology, Recurrent otitis media, Rec... ORPHA:293978
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Autoerythrocyte Sensitization Syndrome
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Hematuria, Thrombocytosis, Aut... ORPHA:324636
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Eczema, Organic aciduria, Alopecia, Perioral eczema, Thrombocytopenia, Hype... ORPHA:79242
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aciduria, Hemolytic-uremic s... OMIM:277400
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Splenomega... OMIM:256550
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Goodpasture Syndrome
Glomerular crescent formation, Proteinuria, Increased blood urea nitrogen, Glomerulonephritis, Ma... OMIM:233450
Hereditary Mucoepithelial Dysplasia
Hematuria, Fine hair, Alopecia, Abnormality of the bladder, Sparse hair ORPHA:1839
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alopecia of scalp OMIM:617294
Alport Syndrome
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Prot... ORPHA:63
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lupus anticoagulant, Colitis, Antinuclear antibody positivity, Thrombocytopenia, Hemolytic anemia... OMIM:616744
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Part... ORPHA:35078
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Neutropenia, Anemia, Lymphadenopathy, Stomatit... ORPHA:520
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, B lym... ORPHA:217390
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Hypertriglyceridemia, H... OMIM:617575
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recur... ORPHA:2968
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Pruritus, Cutaneous abscess, Autoimmune anti... ORPHA:555905
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Uremic Pruritus
Abnormality of serum cytokine level, Hypermagnesemia, Pruritus, Recurrent skin infections, Hyperc... ORPHA:94059
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Immunodeficiency 7
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kidney injury, P... OMIM:618886
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Recurrent otitis media, Viral hepatitis, Decreased circulating IgG level, Cholangit... ORPHA:183675
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Autoimmunity, Bone marrow hypocel... ORPHA:47612
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Hypoplasia of penis, Alopecia, Sparse hair OMIM:275400
Alagille Syndrome 2
Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Cholestasis, Renal hypoplasia, Choles... OMIM:610205
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis, Porphyrinuria, Hypertrichosis OMIM:176090
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmunity, Hepatosplenomegaly, Autoimmune thrombocytopenia,... OMIM:615952
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal urinary color, Autoimmune hemolytic anemia, Systemic lupus erythematosus, ... ORPHA:90036
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Thickened glomerular basement membrane, Nephritis, Re... OMIM:203780
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy, Skin rash OMIM:618048
Granulomatosis With Polyangiitis
Sinusitis, Ureteral stenosis, Autoimmunity, Hematuria, Proteinuria, Inflammatory abnormality of t... ORPHA:900
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Reduced natural killer cell activity,... OMIM:616050
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Coccidioidomycosis
Pancreatitis, Skin rash, Osteomyelitis, Granuloma, Pericarditis, Arthritis, Pruritus, Pneumonia, ... ORPHA:228123
Castleman Disease
Increased circulating interleukin 6 concentration, Hematuria, Abdominal mass, Elevated circulatin... ORPHA:160
Hyper-Igd Syndrome
Renal angiomyolipoma, Increased circulating IgD level, Hepatosplenomegaly, Leukocytosis, Lymphade... OMIM:260920
Cold Agglutinin Disease
Autoimmunity, Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level, Nail dystroph... OMIM:618806
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentrat... ORPHA:2902
Hemorrhagic Fever-Renal Syndrome
Oliguria, Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, ... ORPHA:340
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Whim Syndrome 1
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis OMIM:193670
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmu... ORPHA:760
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Inflammatory abnormality of the skin, Crusti... ORPHA:79147
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Hypoplastic toenails, Alopecia, Anemia, Toenail dysplasia, Fingernail dysplasia, Sparse scalp hai... ORPHA:2325
Galactosemia I
Hypergalactosemia, Hepatomegaly, Aminoaciduria, Increased level of galactitol in plasma, Hemolyti... OMIM:230400
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Pruritus, Maculopapular exanthema, Splenomegaly, Hep... ORPHA:98848
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hype... OMIM:613845
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Nephrotic syndrome, Elevated circulating crea... ORPHA:85450
Gaucher Disease Type 3
Pancytopenia, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Increased circulating antibody ... ORPHA:77261
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Nephrolithiasis, Hematuria ORPHA:2196
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Chronic oti... ORPHA:33355
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal urinary color, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:98375
Malakoplakia
Urinary bladder inflammation, Pruritus, Hematuria, Proteinuria, Dysuria, Orchitis, Urinary hesita... ORPHA:556
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, B lymphocytopenia, Lymphadenopathy... OMIM:619164
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit, Abnormality of the kidney, A... ORPHA:284227
Griscelli Syndrome
Premature graying of hair, Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid co... ORPHA:381
Acquired Ichthyosis
Autoimmunity, Pruritus, Recurrent skin infections, Renal insufficiency ORPHA:454
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Lymphadenopathy, Impaired Ig cl... OMIM:605258
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Netherton Syndrome
Ectopic kidney, Abnormal hair morphology, Hydronephrosis, Sparse eyebrow, Fine hair, Decreased ci... ORPHA:634
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly, ... ORPHA:85414
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Elevated circulating C-reactive protein concentrati... OMIM:611762
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Abnormality of circulating enzyme level, Dysuria, D... ORPHA:93598
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, D... OMIM:615122
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Myh9-Related Disease
Proteinuria, Giant platelets, Nephritis, Nephropathy, Neutrophil inclusion bodies, Renal insuffic... ORPHA:182050
Idiopathic Trachyonychia
Abnormality of the periungual region, Patchy alopecia, Autoimmune thrombocytopenia, Nail pits, Na... ORPHA:79153
Rift Valley Fever
Uveitis, Increased circulating IgG level, Hematuria, Increased circulating IgM level, Infectious ... ORPHA:319251
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Proteinuria OMIM:261100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria... ORPHA:567546
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Myocarditis,... ORPHA:139402
Biotinidase Deficiency
Recurrent skin infections, Splenomegaly, Hepatomegaly, Organic aciduria, Seborrheic dermatitis, A... OMIM:253260
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Proteinuria, Epididymitis, Ascites, Thrombocytopenia, Conjunctivitis, Leukopenia, N... ORPHA:99827
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Skin rash, Increased... OMIM:147060
Thymic Aplasia
Sinusitis, T lymphocytopenia, Autoimmunity, Pneumonia, Coombs-positive hemolytic anemia, Decrease... ORPHA:83471
Harderoporphyria
Increased circulating ferritin concentration, Red urine, Splenomegaly, Increased urinary porphobi... OMIM:618892
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Proteinuria, Anemia, Glomerulopathy, Renal insufficiency ORPHA:2668
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Hypercalcemia, Alopecia totalis, Ascites, Renal insufficiency OMIM:240150
Klippel-Trénaunay Syndrome
Microcytic anemia, Hepatomegaly, Hematuria, Ascites ORPHA:90308
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Pruritus, Leukopenia, Portal hypertension, Anticardiolipin Ig... ORPHA:64743
Chronic Mucocutaneous Candidiasis
Abnormality of the nail, Pruritus, Hematuria, Broad nail, Abnormal toenail morphology, Cheilitis,... ORPHA:1334
Glanzmann Thrombasthenia
Macroscopic hematuria, Impaired ristocetin-induced platelet aggregation ORPHA:849
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Proteinuria, Thickened glomerular basement membrane, Nephritis, Microscopic h... OMIM:301050
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Eczema, Psoriasiform dermatitis, Alopecia, Thrombocytopenia OMIM:617443
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:1192
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Abnormal circulating interleukin conc... ORPHA:158057
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Abnormality of the kidney, Increased hepatic glycogen content, Hepat... ORPHA:369
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary dopamine, Hematuria, Elevated urinary epinephrine, Elevated urina... ORPHA:94080
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Glycosuria, Proteinuria, Anemia, Reduced haptoglobin level, Thrombocytopenia, Leuko... ORPHA:447
Infantile Sialic Acid Storage Disease
Fair hair, Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemi... OMIM:269920
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Proteinuria, Acute kidney injury, Decrease... ORPHA:650
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Acquired Generalized Lipodystrophy
Generalized hirsutism, Autoimmunity, Acute pancreatitis, Hepatic steatosis, Proteinuria, Abnormal... ORPHA:79086
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver, Nephroblastoma, Hematuria ORPHA:654
Netherton Syndrome
Decreased circulating IgG level, Brittle hair, Hypereosinophilia, Sparse eyebrow, Erythroderma, A... OMIM:256500
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Renal artery aneurysm, Anemia, Lymph... OMIM:615688
Aicardi-Goutieres Syndrome 9
Proteinuria, Anemia, Recurrent urinary tract infections, Hyperechogenic kidneys, Ascites, Stage 5... OMIM:619487
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Enlarged kidney, Leukopenia, Hepatosplenomegaly, Bone marrow hyp... ORPHA:505248
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Scleroderma
Autoimmunity, Anti-topoisomerase I antibody positivity, Pruritus, Hypereosinophilia, Uveitis, Acu... ORPHA:801
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Nail dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration, Alo... OMIM:615704
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Increased circulati... OMIM:617591
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis OMIM:302000
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Systemic lupus e... ORPHA:90033
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Subcorneal Pustular Dermatosis
Autoimmunity, Pruritus, Systemic lupus erythematosus, Rheumatoid arthritis, Increased circulating... ORPHA:48377
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimmune antibody positi... ORPHA:90003
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Autoimmune antibody positivity, Hypocalcem... ORPHA:398063
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibo... ORPHA:48104
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Cronkhite-Canada Syndrome
Patchy alopecia, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Dystrophic toenail, Spl... ORPHA:2930
Kikuchi-Fujimoto Disease
Pruritus, Leukopenia, Splenomegaly, Myocarditis, Elevated circulating C-reactive protein concentr... ORPHA:50918
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormality of the kidney, Systemic lupus erythematosus, Abnormal renal physiology, Malar rash, P... OMIM:609939
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Myositis, Increased circulating IgM level, Increased circulating IgA level, Increas... ORPHA:79078
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Neutropenia, Aminoaciduria, Decreased platelet glycoprotein I... OMIM:603585
Igg4-Related Pachymeningitis
Eosinophilia, Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Elevated cir... ORPHA:449427
Angiostrongyliasis
Pruritus, Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, In... ORPHA:74
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Chilblain Lupus 1
Antinuclear antibody positivity, Abnormality of the nail, Chilblains OMIM:610448
Igg4-Related Thyroid Disease
Autoimmunity, Sclerosing cholangitis, Hashimoto thyroiditis, Anti-thyroglobulin antibody positivi... ORPHA:64744
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Recurrent otitis media, Hepatosplenomegaly, Recurrent pneumoni... ORPHA:353298
Multiple Carboxylase Deficiency
Organic aciduria, Skin rash, Hyperammonemia, Alopecia ORPHA:148
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Proteinuria, Abnormal hair morphology, Glomerulopathy, Microscopic hematuria, Elliptocytosis, Ren... ORPHA:86818
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Increased circulating ferritin concentration, Hemophagocytosis, Splen... OMIM:618398
Small Cell Carcinoma Of The Bladder
Dysuria, Hypercalcemia, Recurrent urinary tract infections, Hematuria ORPHA:284400
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Keratitis, Increased circulating Ig... OMIM:618523
Quinquaud Folliculitis Decalvans
Patchy alopecia, Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp,... ORPHA:346
Lujo Hemorrhagic Fever
Oliguria, Leukocytosis, Leukopenia, Maculopapular exanthema, Myocarditis, Elevated circulating C-... ORPHA:319213
Relapsing Polychondritis
Chondritis of pinna, Pericarditis, Uveitis, Hematuria, Proteinuria, Arthritis, Inflammatory abnor... ORPHA:728
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Eczema, Anemia, Th... OMIM:618116
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Ele... OMIM:617099
Glycogen Storage Disease Ic
Hepatoblastoma, Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hep... OMIM:232240
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Hematuria, Proteinuria, Chronic kidney disease, Smooth muscle antibody posi... ORPHA:1018
Igg4-Related Ophthalmic Disease
Eosinophilia, Sinusitis, Cholangitis, Orchitis, Increased circulating IgG4 level, Abnormality of ... ORPHA:449563
Porphyria Cutanea Tarda
Onycholysis, Alopecia, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis OMIM:176100
Holocarboxylase Synthetase Deficiency
Organic aciduria, Alopecia, Thrombocytopenia, Hyperammonemia, Skin rash OMIM:253270
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration... OMIM:232800
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Chilblains, Thrombocytopenia OMIM:610329
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Recurrent otitis media, Episcleritis, Epididymitis, Increased serum interferon... OMIM:256040
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine concentration, H... ORPHA:411634
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated ... ORPHA:276621
Adult-Onset Still Disease
Pruritus, Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Ne... ORPHA:829
Porphyria Cutanea Tarda
Viral hepatitis, Decreased hepcidin level, Chronic hepatitis, Hypertrichosis, Stage 5 chronic kid... ORPHA:101330
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine, Increased blood urea ni... ORPHA:230