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Gene: Scarf1 MGI:2449455

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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 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
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... OMIM:617006
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Systemic Lupus Erythematosus
Anti-Sm antibody positivity, Hematuria, Decreased circulating complement C4 concentration, Discoi... ORPHA:536
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Generalized hirsutism, Proteinuria, Glomerulopathy, Lymphocytosi... ORPHA:79087
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Decreased circulating complement C3... OMIM:614420
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Reduced circulating complement con... ORPHA:567544
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... OMIM:618495
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Thrombocytosis, L... OMIM:209950
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Recurrent ot... OMIM:618982
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expr... OMIM:304790
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Lupus a... ORPHA:93552
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE le... ORPHA:169154
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp... ORPHA:2134
Drug-Induced Lupus Erythematosus
Malar rash, Elevated circulating creatine kinase concentration, Lupus anticoagulant, Antinuclear ... ORPHA:231111
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... OMIM:613652
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Hirsutism, Proteinuria, Hematuria, M... OMIM:608709
Urachal Cyst
Leukocytosis, Abscess, Hematuria, Peritonitis, Elevated circulating C-reactive protein concentrat... ORPHA:488
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... OMIM:613495
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Follicular hyperplasia, Pustule, Antiphospholipid antibody positivity... OMIM:615934
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... ORPHA:90060
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... OMIM:152700
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hep... OMIM:105200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Systemic Lupus Erythematosus 17
Alopecia, Anti-aquaporin 4 antibody positivity, Myelitis, Systemic lupus erythematosus, Lymphopen... OMIM:301080
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Absen... ORPHA:277
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur... ORPHA:499
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Tubulointerstitial nephritis, Elevated circulati... ORPHA:91500
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ... OMIM:614470
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... OMIM:612783
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Autoimmunity, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... OMIM:619773
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Candidiasis, Familial, 1
Cutaneous anergy, Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Hypocomplementemic Urticarial Vasculitis
Ascites, Reduced circulating complement concentration, Autoimmunity, Renal insufficiency, Episcle... ORPHA:36412
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a... OMIM:614380
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Kawasaki Disease
Hypoalbuminemia, Sterile pyuria, Abnormality of nail color, Hepatitis, Cervical lymphadenopathy, ... ORPHA:2331
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... ORPHA:781
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Decreased ci... OMIM:300988
Immunodeficiency 18
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Complement Factor H Deficiency
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Decreased circulating ... OMIM:609814
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir... ORPHA:91139
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra... OMIM:618944
Thymoma
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ... ORPHA:99867
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ... ORPHA:470
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur... OMIM:620010
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Omenn Syndrome
Pneumonia, Alopecia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, He... ORPHA:39041
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circulating IgE le... OMIM:620565
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating interleukin 6 concentration, Increased circulating ferritin conc... OMIM:614034
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Immunodeficiency 53
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Skin rash, Impai... OMIM:617585
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Hepatosplenomegaly, Cardiomegaly, Antinuclear antibody positi... ORPHA:99931
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Hepa... OMIM:619644
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Maculopapular exanthema, Ly... ORPHA:83313
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclear antibody positivity, Pu... OMIM:617388
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi... ORPHA:444463
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta... OMIM:620632
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c... OMIM:613913
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Autoimmunity, Splenomegaly, Chronic sin... ORPHA:397596
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopath... ORPHA:100025
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... OMIM:308240
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolyti... OMIM:616576
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Elevated circulating C-re... OMIM:616414
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Hypocalcemia, A... ORPHA:47
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific an... OMIM:606367
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea... ORPHA:859
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
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Facial hirsutism, Splen... OMIM:170100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Increased circulating IgA level, Alopecia, Hypotriglyceridemia, Enl... ORPHA:2298
Lesch-Nyhan Syndrome
Gout, Renal insufficiency, Hyperuricemia, Hematuria, Anemia ORPHA:510
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy ORPHA:2613
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... OMIM:616005
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis OMIM:216950
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... OMIM:616100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou... ORPHA:549
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Cryoglobulinemia, Hematuria, Protein... ORPHA:91138
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,... ORPHA:77259
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Rheumatoid arthritis, Acute kidney injury, Recurrent urina... ORPHA:3467
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity OMIM:609529
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur... OMIM:613845
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... OMIM:614699
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cholestasis, Hyperbilirubinemia, Granulomatous cholangitis, ... ORPHA:562639
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... OMIM:613494
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Classic Mycosis Fungoides
Alopecia, Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphad... ORPHA:2584
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup... OMIM:620376
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Increased circulating antibody lev... ORPHA:69126
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Sézary Syndrome
Alopecia, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegaly, Abnormal immunoglobulin l... ORPHA:3162
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Antineutrophil antibody positivity, Decreased circulating IgG level,... OMIM:301078
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Hypouricemia, Decreased urinary urate, Decreased lymphocyte proliferation in response ... OMIM:613179
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Partial absence ... OMIM:620430
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Hyperbilirubinemia, Abscess, Splenic cyst, Increas... ORPHA:400
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Hydroxyprolinemia
Hydroxyprolinemia, Microscopic hematuria OMIM:237000
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA... ORPHA:1855
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse axillary hair, Pruritus, Sparse scalp hair ORPHA:505
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Alopecia, Rheumatoid arthritis... ORPHA:227990
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt... ORPHA:436159
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Supernumerary nipple, Elevated circulating creatinine concentration, Stage 5 ch... OMIM:614376
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hype... ORPHA:69077
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria, Megaloblastic anemia OMIM:261100
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I... ORPHA:289390
Cernunnos-Xlf Deficiency
Lymphopenia, Autoimmunity, Decreased circulating antibody level, Thrombocytopenia, B lymphocytope... ORPHA:169079
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Eosinophilic Granulomatosis With Polyangiitis
Autoimmunity, Renal insufficiency, Skin rash, Hematuria, Proteinuria, Increased inflammatory resp... ORPHA:183
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Skin rash, Abs... OMIM:619374
Immune Thrombocytopenia
Hematuria, Thrombocytopenia, Anti-platelet antigen antibody positivity ORPHA:3002
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
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
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, A... OMIM:620321
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Incr... OMIM:615767
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou... ORPHA:275
Immunodeficiency 7
Recurrent otitis media, Autoimmunity, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegal... OMIM:615387
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste... OMIM:617303
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus... ORPHA:37748
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con... OMIM:274150
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Microscopic Polyangiitis
Uveitis, Oliguria, Autoimmunity, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increas... ORPHA:727
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas... OMIM:617241
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Alopecia, Rheumatoid arthritis... ORPHA:227982
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ... ORPHA:449432
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno... OMIM:215250
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias... OMIM:619428
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Porphyrinuria, Onycholysis, Cirrhosis, Hepatocellular carcinoma OMIM:176100
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,... OMIM:620603
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... ORPHA:572
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circulating creat... ORPHA:36234
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, IgA... OMIM:618348
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, I... ORPHA:829
Systemic Sclerosis
Chronic kidney disease, Alopecia, Acute kidney injury, Anti-centromere antibody positivity, Osteo... ORPHA:90291
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,... OMIM:258900
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopen... OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu... OMIM:613101
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... OMIM:616871
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop... OMIM:235400
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Increased blood u... OMIM:617872
Immunodeficiency 32B
Pneumonia, Neutrophilia, Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG leve... OMIM:226990
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ab... ORPHA:29073
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... OMIM:615577
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Proteinuria, Knee os... ORPHA:2035
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom... ORPHA:251004
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ... OMIM:245900
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Mixed Connective Tissue Disease
Nephropathy, Alopecia, Mediastinal lymphadenopathy, Leukopenia, Autoimmunity, Skin rash, Splenome... ORPHA:809
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increa... OMIM:602450
Juvenile Arthritis
Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Isolated Agammaglobulinemia
Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Otitis media, Skin rash, Abnormality of ... ORPHA:229717
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig cl... OMIM:608184
Complement Factor I Deficiency
Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu... OMIM:610984
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
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse eyebrow, Hypoplastic toenails, Sparse eyelashes, Hematuria, Proteinuria, Tubulointerstitia... OMIM:616901
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Immunodeficiency 15A
Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou... OMIM:618204
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:1008
Immunodeficiency 22
Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Autoimmunity, Decrease... OMIM:615758
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... ORPHA:70593
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Reduced natural killer c... OMIM:619752
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic... OMIM:158310
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,... OMIM:619774
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Lympho... OMIM:617575
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod... OMIM:233450
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Abnormal erythrocyte morphology, Superficial dermal perivascular infl... ORPHA:324636
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia... ORPHA:520
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Skin rash, Hypertriglyceridemia OMIM:619175
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
L-Ferritin Deficiency
Alopecia, Decreased circulating ferritin concentration OMIM:615604
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria OMIM:120433
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... OMIM:256550
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczematoid dermatitis, Organic aciduria, Hyperammonemia, Keratoconjunc... ORPHA:79242
Macrophage Activation Syndrome
Hemophagocytosis, Systemic lupus erythematosus, Neutropenia, Hepatomegaly, Elevated circulating C... ORPHA:158061
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ... ORPHA:540
Alopecia Universalis
Alopecia universalis, Atopic dermatitis, Abnormal circulating lipid concentration, Autoimmunity, ... ORPHA:701
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Alopecia, Renal insufficiency, Abnormal renal glomerulus morphology, Spar... OMIM:137940
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Autoimmunity, Leukocytosis... ORPHA:2902
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Coarse hair, Fine hair, Lymphopenia, Pancytopenia, Stage 5 ch... OMIM:242900
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Sparse hair ORPHA:1839
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero... OMIM:617021
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Hepatosplenomegaly,... OMIM:618963
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope... OMIM:185070
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Omenn Syndrome
Pneumonia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... OMIM:603554
Castleman Disease
Mediastinal lymphadenopathy, Increased circulating interleukin 6 concentration, Ureteral obstruct... ORPHA:160
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase... ORPHA:507
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr... OMIM:232240
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria, Eczematoid dermatitis, Hypertrichosis OMIM:176090
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hypertri... OMIM:603552
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Coccidioidomycosis
Morbilliform rash, Abnormality of the spleen, Abscess, Abnormality of the bladder, Erythema nodos... ORPHA:228123
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, C... OMIM:616744
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Elevated circulating creatinine concentration,... OMIM:123550
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmunity, Inter... OMIM:615952
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
Granulomatosis With Polyangiitis
Ureteral stenosis, Autoimmunity, Renal insufficiency, Otitis media, Skin rash, Hematuria, Protein... ORPHA:900
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the ... ORPHA:94059
Oliver-Mcfarlane Syndrome
Alopecia, Long eyelashes, Long eyebrows, Hypoplasia of penis, Sparse hair OMIM:275400
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Skin rash, ... OMIM:260920
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Tricho... ORPHA:634
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Hematuria, Nephrolithiasis ORPHA:2196
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Increased circulating interleuk... ORPHA:340
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Neonatal hyperbilirubinemia, Long eyelashes, Micropenis, Sparse hair ORPHA:3363
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Reduced erythrocyt... OMIM:230400
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Systemic lupus erythematosus, Increased total bilirubin, Autoimmunity, Sk... ORPHA:90036
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Hematuria, Jaundice, Thrombocytopenia, Anemia, Inc... ORPHA:319251
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Recurrent pneumonia, Recurrent otitis media, Alopecia totalis, Abnormal lymphocyte morp... ORPHA:293978
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia OMIM:193670
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Long eyelashes, Leukopenia, Elevated circulating creatinine ... OMIM:301110
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Recu... ORPHA:83471
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Decrease... ORPHA:85450
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... ORPHA:139402
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Eczematoi... OMIM:256500
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
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
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... ORPHA:79147
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Nail dystroph... OMIM:618806
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,... ORPHA:556
Cold Agglutinin Disease
Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly... ORPHA:47612
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Decr... ORPHA:33355
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Abnormality of the kidney, Increased circulating IgG... ORPHA:284227
Idiopathic Trachyonychia
Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy a... ORPHA:79153
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Biotinidase Deficiency
Alopecia, Organic aciduria, Skin rash, Splenomegaly, Hyperammonemia, Seborrheic dermatitis, Hepat... OMIM:253260
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Hepatom... ORPHA:77261
Chronic Mucocutaneous Candidiasis
Hepatitis, Recurrent urinary tract infections, Abnormal fingernail morphology, Skin rash, Abnorma... ORPHA:1334
Hepatoportal Sclerosis
Hypersplenism, Hyperbilirubinemia, Anticardiolipin IgM antibody positivity, Jaundice, Ascites, In... ORPHA:64743
Alopecia Totalis
Inflammation of the large intestine, Alopecia totalis, Autoimmunity, Alopecia of scalp, Onycholys... ORPHA:700
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... ORPHA:98848
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, A... ORPHA:760
Acquired Ichthyosis
Recurrent skin infections, Autoimmunity, Renal insufficiency, Pruritus ORPHA:454
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Anemia, Proteinuria ORPHA:1192
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Bleeding Disorder, Platelet-Type, 21
Alopecia, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregati... OMIM:617443
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Elevated circulating creatine kinase conc... OMIM:615704
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Peeling Skin Syndrome 1
Increased circulating IgE level, Nail dystrophy, Onycholysis, Eosinophilia, Erythroderma, Brittle... OMIM:270300
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Elevated urina... ORPHA:94080
Infantile Sialic Acid Storage Disease
Fair hair, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic s... OMIM:269920
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Proteinuri... ORPHA:369
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Macroscopic hematuria ORPHA:849
Acquired Generalized Lipodystrophy
Abnormality of complement system, Abnormal circulating lipid concentration, Autoimmunity, Hepatic... ORPHA:79086
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia ORPHA:2668
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, D... OMIM:614069
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... ORPHA:99827
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome ORPHA:834
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl... OMIM:613404
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circula... ORPHA:85414
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Hepatomegal... OMIM:617591
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis ORPHA:98827
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count, Autoimmunity OMIM:131430
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma ORPHA:654
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Klippel-Trénaunay Syndrome
Hematuria, Hepatomegaly, Microcytic anemia, Ascites ORPHA:90308
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Neutropenia, Thrombocytopenia, Ma... OMIM:603585
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Hypertrichosis, He... ORPHA:505248
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp... ORPHA:2930
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Autoimmune hemolyt... ORPHA:100026
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... OMIM:618116
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy... ORPHA:398063
Inflammatory Pseudotumor Of The Liver
Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir... ORPHA:90003
Kikuchi-Fujimoto Disease
Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Skin ... ORPHA:50918
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Glomer... OMIM:619487
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatitis, Decreased HDL cholesterol concentration, Increased... ORPHA:355
Holocarboxylase Synthetase Deficiency
Alopecia, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Skin rash, Hyperammon... OMIM:253270
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Lujo Hemorrhagic Fever
Oliguria, Lymphopenia, Leukopenia, Renal insufficiency, Skin rash, Maculopapular exanthema, Leuko... ORPHA:319213
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a... OMIM:618213
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth... OMIM:615688
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ... OMIM:615607
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:90033
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurrent skin in... ORPHA:346
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen... OMIM:618398
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc... OMIM:604416
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... ORPHA:1018
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hypocalce... ORPHA:64744
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Mevalonic Aciduria
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Elevate... OMIM:610377
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circulating IgA ... OMIM:617099
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Premature graying of hair, Recurrent otitis me... OMIM:256040
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Pruritus, Nail dystrophy OMIM:616487
Relapsing Polychondritis
Alopecia, Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insuffi... ORPHA:728
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Abnormality... OMIM:609939
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections ORPHA:284400
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Abnormal delay... OMIM:301000
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hepatosp... ORPHA:353298
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica... OMIM:617718
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce... ORPHA:439232
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebro... ORPHA:202
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Porphyria Cutanea Tarda
Portal inflammation, Systemic lupus erythematosus, Hepatic steatosis, Decreased circulating hepci... ORPHA:101330
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Eczematoid dermatitis, Sparse body hair, Congenital onychodystrop... ORPHA:2890
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... ORPHA:449563
Chilblain Lupus 1
Antinuclear antibody positivity, Chilblains, Abnormality of the nail OMIM:610448
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Increased circulating IgE lev... ORPHA:90368
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Hepatomegaly, Increased blood urea nitrogen, Anemia, Conjunctiv... ORPHA:90321
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Neutropenia, Throm... ORPHA:79312
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal hair morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Micro... ORPHA:86818
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Skin rash, Generalized hirsutism, Abnormality of the nail ORPHA:317
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly, Pruritus OMIM:607685
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Low anterior hairli... ORPHA:261222
Nail-Patella Syndrome
Ridged nail, Renal insufficiency, Hematuria, Proteinuria, Anonychia, Glomerulonephritis, Concave ... OMIM:161200
Ruvalcaba Syndrome
Generalized hirsutism, Hematuria, Abnormal localization of kidney ORPHA:3121
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Decreased lymphocyte proliferation in response to mitogen, Reduced nat... ORPHA:221139
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... OMIM:256300
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair OMIM:269600
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Renal insufficiency, Increased ci... ORPHA:85443
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:618347
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Methylmalonic aciduria, Decreased circulating IgA level, Pancyto... OMIM:275350
Giant Cell Arteritis
Alopecia, Renal insufficiency, Hematuria, Arthritis, Mediastinal lymphadenopathy, Pericarditis ORPHA:397
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Enterocolitis, Nephrotic syndrom... OMIM:301108
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... OMIM:612782
Mogs-Cdg
Decreased circulating IgG level, Alopecia, Fair hair, Long eyelashes, Decreased circulating IgA l... ORPHA:79330
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Hirsutism, Decreased circulatin... OMIM:300861
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler... OMIM:607626
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... OMIM:243910
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Malar rash, Hemolytic anemia, Skin rash, Splenomegaly, Abnormality... ORPHA:398124
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Phenylketonuria
Elevated urinary gamma-glutamylphenylalanine level, Eczematoid dermatitis, Fair hair, Increased l... OMIM:261600
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Periodontitis, Aplastic anemia, Lymphopenia, Recur... ORPHA:486
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Elevated circulating creatine kinase concentrat... OMIM:607426
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy... OMIM:616084
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Alopecia universalis, Alopecia, Nephrocalcinosis, Cholelithiasis, Chronic muc... OMIM:240300
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ... OMIM:617744
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Lymphopenia, Disse... OMIM:614868
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Macrocephaly/Autism Syndrome
Coarse hair, Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, D... OMIM:605309
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Autoimmunity, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Interface hepati... OMIM:243150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... ORPHA:90035
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat... OMIM:127550
Primary Biliary Cholangitis
Increased circulating IgA level, Cirrhosis, Hepatomegaly, Jaundice, Increased circulating IgM lev... ORPHA:186
Bullous Impetigo
Abnormality of the lymphatic system, Pustule, Glomerulopathy, Septic arthritis, Recurrent bacteri... ORPHA:36237
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair ORPHA:2251
Cystinuria
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis ORPHA:214
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... OMIM:611881
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis, Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein co... OMIM:120100
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Nail dystrophy, Renal duplicat... ORPHA:79403
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Functional abnormality of the bladder, Eczematoid dermatiti... ORPHA:391487
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Pneumonia, Normocytic anemia, Abnormality of the hepatic vasculature, Nodular regene... ORPHA:247691
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Chronic m... ORPHA:79124
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially duplicated kidney, Macroscopi... ORPHA:274
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Elevated c... OMIM:607115
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level ORPHA:2571
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Cholestasis-Lymphedema Syndrome
Erysipelas, Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatome... OMIM:214900
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Abnormal... ORPHA:3051
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... ORPHA:514
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
H Syndrome
Alopecia, Bronchiectasis, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatos... ORPHA:168569
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Myeloproliferat... ORPHA:79456
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Ascites, Exocrine pancreatic insufficiency, Abnormality ... ORPHA:1667
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Ascites, Leukocytosis, Skin rash, Splenomegaly, Orchit... ORPHA:342
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hy... OMIM:613070
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r... OMIM:600802
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, High anterior hairline, Toenail dysplasia, Fin... ORPHA:2614
Porphyria, Congenital Erythropoietic
Alopecia, Cholelithiasis, Hypertrichosis, Elevated circulating uroporphyrin concentration, Spleno... OMIM:263700
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glycosuria, Beta 2-... OMIM:227810
Muckle-Wells Syndrome
Nephropathy, Renal amyloidosis, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomeg... ORPHA:575
Babesiosis
Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti... ORPHA:108
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Pan... OMIM:613990
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Alopecia, Decreased circulating carnitine concentration, Ketonuria, Organic acid... OMIM:210210
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Hemochromatosis, Type 1
Alopecia, Increased circulating iron concentration, Increased circulating ferritin concentration,... OMIM:235200
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Proximal tubulopathy, Hypocho... OMIM:212065
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Micronodular cirrhosis OMIM:192315
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... ORPHA:713
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurrent skin inf... ORPHA:169105
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Anemia, Microscopic hematuria ORPHA:71273
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Bloom Syndrome
Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, A... ORPHA:125
Immunoglobulin A Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Pu... ORPHA:761
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia ORPHA:35710
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chronic otitis media... ORPHA:534
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne... ORPHA:33110
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... OMIM:616622
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... OMIM:614576
Congenital Factor Ii Deficiency
Anemia, Microscopic hematuria ORPHA:325
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Abnormal hair morphology, Lymp... OMIM:208900
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Renal insufficiency, Leukocytosis, Hypocalcemia, Palmoplantar pustu... ORPHA:247353
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Alopecia, Increased serum bile acid concentration, Cirrhosis, Erythroderma, Conj... OMIM:242150
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis OMIM:260000
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Alopecia, Hypospadias, Erythroderma OMIM:618840
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Colchicine Poisoning
Alopecia, Oliguria, Hypomagnesemia, Renal insufficiency, Leukocytosis, Hypocalcemia, Hypokalemia,... ORPHA:31824
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
Celiac Disease, Susceptibility To, 1
Alopecia, Eczematoid dermatitis, Decreased circulating IgA level, Recurrent aphthous stomatitis, ... OMIM:212750
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E... OMIM:619381
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Zika Virus Disease
Myelitis, Pruritus, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivit... ORPHA:448237
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplas... OMIM:612843
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Common Variable Immunodeficiency
Pneumonia, Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Otitis me... ORPHA:1572
46,Xy Sex Reversal 4
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... OMIM:154230
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Livedoid Vasculopathy
Abnormality of complement system, Polycythemia, Abnormal circulating lipid concentration, Systemi... ORPHA:542643
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Lead Poisoning
Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Decreas... ORPHA:330015
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hypocalcemia, Hypercholesterolemi... OMIM:612526
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,... ORPHA:129
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Mucopolysaccharidosis, Type Iiib
Coarse hair, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomeg... OMIM:252920
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule... ORPHA:839
Agel Amyloidosis
Stage 5 chronic kidney disease, Nail dystrophy, Proteinuria, Keratoconjunctivitis sicca, Abnormal... ORPHA:85448
Trichohepatoenteric Syndrome 1
Cholestasis, Cirrhosis, Curly hair, Brittle hair, Hepatomegaly, Jaundice, Sparse hair, Hypospadia... OMIM:222470
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level, Pruritus, Nail dystrophy, Abnormal toenail morphology ORPHA:89843
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Renal insufficiency, Hyperlipidemia, Hemat... ORPHA:324
Severe Hemophilia A
Synovitis, Anemia, Macroscopic hematuria ORPHA:169802
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Anemia, Urinary mulber... OMIM:301500
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphade... ORPHA:79477
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Abnormal hair morphology, Increased circulating IgE level, Osteomyelitis, ... ORPHA:2314
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Hepatomegal... ORPHA:436271
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Leigh Syndrome
Generalized aminoaciduria, Alopecia, Methylmalonic aciduria, Eczematoid dermatitis, Hypertrichosi... ORPHA:506
Dyskeratosis Congenita
Periodontitis, White hair, Premature graying of hair, Displacement of the urethral meatus, Cirrho... ORPHA:1775
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ... ORPHA:213
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... OMIM:254900
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Increased hepatic echogenicity, Recurrent otitis media, Microcytic anemia, ... OMIM:619525
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Chol... OMIM:615895
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Incontinentia Pigmenti
Alopecia, Coarse hair, Uveitis, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Breas... OMIM:308300
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg... OMIM:616828
Propionic Acidemia
Hyperglycinuria, Eczematoid dermatitis, Increased level of hippuric acid in urine, Pancytopenia, ... OMIM:606054
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Long eyelashes, Pustule, Recurrent pneumonia OMIM:616069
Acute Generalized Exanthematous Pustulosis
Pruritus, Cholestasis, Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Leukocy... ORPHA:293173
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pruritus ORPHA:391
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous ... OMIM:233600
Tafro Syndrome
Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Renal insufficien... ORPHA:457077
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal... OMIM:618882
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico... OMIM:619377
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Hepatosplenomegaly, Autoimmunity, Pancytopenia, Hy... ORPHA:228426
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Hyperlipidemia, H... OMIM:232200
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Tick-Borne Encephalitis
Myelitis, Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thrombocytopenia... ORPHA:297
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Wilson Disease
Hypouricemia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice, Decreased... OMIM:277900
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Alopecia, Decreased circulating IgA level, Nail dystrophy, Spars... OMIM:620040
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Alopecia, Nail dystrophy ORPHA:79397
Overlap Myositis
Rheumatoid arthritis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Leu... ORPHA:206572
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Fair hair, Enlarged platel... OMIM:608233
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:3453
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,... OMIM:242860
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... ORPHA:57
American Trypanosomiasis
Splenomegaly, Skin rash, Infectious encephalitis, Hepatomegaly, Lymphadenopathy, Myocarditis, Aut... ORPHA:3386
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Trichiasis, Acute kidney injury, Moderate albuminuria, Inflammatory ab... ORPHA:95455
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Pancytopenia, Decreased circulating IgA level, Autoimmunity, Hypersplenism, Splenomega... OMIM:613385
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... OMIM:613313
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Immunodeficiency 31C
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Chronic mucocu... OMIM:614162
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma ORPHA:542592
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
Acquired Von Willebrand Syndrome
Hematuria, Normocytic anemia, Hypochromic anemia, Refractory anemia ORPHA:99147
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Atelis Syndrome 1
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl... OMIM:620184
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Hepatomegal... OMIM:220110
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubulointerstitial fibrosi... ORPHA:79259
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato... OMIM:201475
Amme Complex
Hematuria, Elliptocytosis OMIM:300194
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive, Elevated ... ORPHA:79099
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati... ORPHA:171
Reynolds Syndrome
Biliary cirrhosis, Anti-centromere antibody positivity, Cholestasis, Lymphopenia, Hyperbilirubine... OMIM:613471
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome... OMIM:616651
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Lymphopenia, Tiger tail banding, Increased circulating IgA level, Abdominal... OMIM:616395
Johanson-Blizzard Syndrome
Alopecia, Exocrine pancreatic insufficiency, Hydronephrosis, Abnormal hair pattern, Anemia, Hypop... ORPHA:2315
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul... ORPHA:319218
Mucopolysaccharidosis, Type Iiia
Coarse hair, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Hepatomegaly, Synophrys OMIM:252900
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Lymphopenia... OMIM:242840
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... OMIM:251900
Syndromic Diarrhea
Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic kidney dy... ORPHA:84064
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Cholestasis, Splenomegaly, Renal tubular acidosis, Hepatic ste... ORPHA:264580
Familial Mediterranean Fever
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn'... OMIM:249100
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... ORPHA:416
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Increased hepatic glycog... ORPHA:263455
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulatin... OMIM:300291
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice, Prur... ORPHA:75234
Renpenning Syndrome
Thin eyebrow, Alopecia, Hypospadias, Abnormal hairshaft morphology ORPHA:3242
Lymphangioleiomyomatosis
Abnormal urinary color, Ungual fibroma, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of t... ORPHA:538
Cocaine Intoxication
Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ... ORPHA:90068
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,... ORPHA:90363
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Hepatom... OMIM:252930
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased uri... ORPHA:31826
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Fine hair, Increased circulating ferritin concen... OMIM:222700
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Immunodeficiency 68
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Aspiration pneumonia, Hypomagnesemia, Leukocytosis, Hypoc... ORPHA:94093
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Hypomagnesemia, Increased blood ur... OMIM:223360
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis... OMIM:615631
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Hurler-Scheie Syndrome
Splenomegaly, Generalized hirsutism, Abnormality of the tonsils, Hepatomegaly, Rhinitis ORPHA:93476
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant... ORPHA:703
Monosomy 18P
Low posterior hairline, Alopecia, Autoimmunity ORPHA:1598
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... ORPHA:163525
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinase conc... ORPHA:79240
Scrub Typhus
Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocardit... ORPHA:83317
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... OMIM:615846
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... ORPHA:699
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Ascites, Abnormality of the lymphatic system, Absent eyelashes, Absen... ORPHA:69735
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Cirrhosis, Bronchiectasis, H... OMIM:613490
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Small nail, Abnormal circulating IgM level, Hypocholesterol... ORPHA:79324
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat... OMIM:137920
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Nodular Non-Suppurative Panniculitis
Autoimmunity, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis ORPHA:33577
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,... ORPHA:906
Hemophilia B
Hematuria ORPHA:98879
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Poems Syndrome
Abnormality of skin physiology, Visceromegaly, Polycythemia, Hypertrichosis, Ascites, Leukonychia... ORPHA:2905
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... ORPHA:228305
Bresek Syndrome
Renal hypoplasia, Alopecia, Hypoplasia of the bladder, Vesicoureteral reflux, Renal dysplasia ORPHA:85284
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Sialuria
Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Incr... OMIM:269921
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Erythroderma, Pruritus, Abnormality of the nail ORPHA:79394
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Nail dystrophy, Nail dysplasia OMIM:212360
Psoriasis 14, Pustular
Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Oligoarthritis, Neutrophilia, Ele... OMIM:614204
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyru... OMIM:619147
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoies... ORPHA:231222
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill... OMIM:301074
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur... OMIM:255125
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Distichiasis, Glomerulopathy,... ORPHA:33001
Lichen Planopilaris
Alopecia, Hepatitis, Abnormal fingernail morphology, Onycholysis, Pruritus ORPHA:525
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased urinary cortisol level, Hyperlipidemia, Hepatic steatosis, Nephrolithiasis, H... ORPHA:189427
Chediak-Higashi Syndrome
Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom... OMIM:214500
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Renal hypoplasia, Severe B lymphocytopenia, He... OMIM:620005
Kury-Isidor Syndrome
Hydronephrosis, Recurrent otitis media, Alopecia, Hypertrichosis OMIM:619762
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Dermatomyositis
Anti-histidyl tRNA synthetase antibody positivity, Alopecia, Abnormal eosinophil morphology, Anti... ORPHA:221
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Increased circulating IgE level, Pustule, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic... ORPHA:169090
Pneumocystosis
Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor... ORPHA:723
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair sulfur content, Tiger tail bandi... OMIM:300953
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, El... ORPHA:1451
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... OMIM:616278
Donnai-Barrow Syndrome
Proteinuria, Widow's peak ORPHA:2143
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Lymphoid Interstitial Pneumonia
Mediastinal lymphadenopathy, Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Autoimm... ORPHA:79128
Rhizomelic Chondrodysplasia Punctata, Type 1
Elevated circulating phytanic acid concentration, Alopecia OMIM:215100
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of complement system, Splenomegaly, Hepatic steatosis, Generalized hirsutism, Glomeru... ORPHA:2348
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Microcytic anemia, Hepatic steatosis, Low posterior hairline, Micropenis, T lymphocytop... ORPHA:2959
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... ORPHA:368
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair OMIM:242300
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Leukopenia, ... OMIM:604173
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ... OMIM:277380
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Dermatitis Herpetiformis
Microcytic anemia, Pruritus, Autoimmunity, Eczematoid dermatitis ORPHA:1656
Moderate Hemophilia A
Hematuria, Synovitis ORPHA:169805
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fi... ORPHA:974
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Alopecia, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Abnormal fi... ORPHA:428
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Abnormality of the u... ORPHA:3253
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly, Elevated circulating creatine kinase concentr... ORPHA:79332
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Poikilocytosis... ORPHA:79277
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic... ORPHA:99826
Say-Barber-Miller Syndrome
Highly arched eyebrow, Sparse eyebrow, Decreased circulating IgG level, Eczematoid dermatitis, Ab... ORPHA:3132
Autoimmune Polyendocrinopathy Type 2
Hashimoto thyroiditis, Alopecia ORPHA:3143
Chronic Graft Versus Host Disease
Alopecia, Urinary bladder inflammation, Fasciitis, Ascites, Pancytopenia, Nail dystrophy, Phimosi... ORPHA:99921
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficienc... OMIM:269200
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Prolidase Deficiency
Abnormal fingernail morphology, White forelock, Splenomegaly, Recurrent cystitis, Hirsutism, Gene... ORPHA:742
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci... ORPHA:3243
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Alopecia, Recurrent skin infections, Nail dystrophy, Anemia, Decreased circulati... ORPHA:79396
Alstrom Syndrome
Nephritis, Alopecia, Recurrent pneumonia, Decreased HDL cholesterol concentration, Renal insuffic... OMIM:203800
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Congenital Factor V Deficiency
Hematuria ORPHA:326
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding,... OMIM:601675
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia OMIM:203550
Sarcoidosis
Abnormal lymph node morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Alo... ORPHA:797
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Juvenile Dermatomyositis
Alopecia, Autoimmunity, Skin rash, Elevated circulating creatine kinase concentration, Myositis, ... ORPHA:93672
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Hepatomegaly, Nephrotic syndrome ORPHA:330001
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Alopecia, Premature graying of hair, Horseshoe kidney, Pterygium of ... OMIM:305000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Oculoskeletodental Syndrome
Renal agenesis, Splenomegaly, Hypocalcemia, Low anterior hairline, Low posterior hairline, Mucopo... OMIM:618440
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abnormal circulating chemokine concentration, Acute kidney injury, Oliguria, Septic ar... ORPHA:544482
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Ddost-Cdg
Nephrotic range proteinuria, Hepatic steatosis ORPHA:300536
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hypomagnesemia, Nail dystrophy, Hypocalcemia, Hypokalemia, Nail dysplasia, Anemia OMIM:175500
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Dyskeratosis Congenita, Autosomal Recessive 6
Bone marrow hypocellularity, Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair ORPHA:50812
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Gout, Renal tubula... ORPHA:358
Cornelia De Lange Syndrome 1
Pneumonia, Highly arched eyebrow, Renal hypoplasia, Long eyelashes, Curly eyelashes, Vesicoureter... OMIM:122470
Hypomelanosis Of Ito
Alopecia OMIM:300337
Papillon-Lefèvre Syndrome
Periodontitis, Hypertrichosis, Abnormal fingernail morphology, Sparse body hair, Nail dystrophy, ... ORPHA:678
Congenital Enterovirus Infection
Hypoalbuminemia, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Skin rash, Abno... ORPHA:292
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro... ORPHA:167
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Alopecia, Long penis, Hirsutism, Decreased circul... ORPHA:90795
Adrenoleukodystrophy
Urinary incontinence, Elevated circulating long chain fatty acid concentration, Alopecia, Urinary... OMIM:300100
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Eczematoid dermatitis, Microcytic anemia, Abnormal circulating porphyrin concentr... ORPHA:79278
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Biotinidase Deficiency
Alopecia, Eczematoid dermatitis, Organic aciduria, Skin rash, Hyperammonemia, Conjunctivitis ORPHA:79241
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn... OMIM:619991
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Anemia of inadequa... OMIM:612714
Hemophilia B
Hematuria, Osteoarthritis OMIM:306900
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Encephalitis Lethargica
Urinary incontinence, Autoimmunity, Increased circulating antibody level ORPHA:83600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Hennekam Syndrome
Erysipelas, Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphangioma, Hypocalcemia, Spa... ORPHA:2136
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern ORPHA:1867
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... ORPHA:848
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613736
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Erythroderma, Nail dystrophy ORPHA:100976
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Alopecia of scalp, Splenomegaly, Decreased serum zinc, Hepatomegaly, Pa... OMIM:201100
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Coarse hair, Eczematoid dermatitis, Acne inversa, Trichorrhexis nodosa, Pili t... OMIM:301845
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Hypertrichosis, Recurrent otitis media, Heparan sulfate excretion in urine, ... OMIM:309900
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Ascites... OMIM:306400
Familial Benign Copper Deficiency
Acne, Anemia, Decreased circulating copper concentration, Early balding ORPHA:1551
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Zinc Deficiency, Transient Neonatal
Alopecia, Eczematoid dermatitis, Decreased serum zinc OMIM:608118
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Recurrent skin infecti... OMIM:615508
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... ORPHA:79284
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Sparse eyelashes OMIM:616367
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Bloom Syndrome
Decreased circulating IgG level, Leukemia, Hypertrichosis, Decreased circulating IgA level, Malar... OMIM:210900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair m... ORPHA:464
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Ret... OMIM:618278
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... OMIM:602347
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Yellow Fever
Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating creatinine concentratio... ORPHA:99829
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Renal tubular acidosis, Ureter... ORPHA:1493
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Autoimmunity, Alopecia of scalp, Autoimmune hemolytic anemia, Nail... ORPHA:436252
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Hypoplastic toenails OMIM:616589
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Slow-growing hair, Pruritus, Sparse ha... OMIM:618535
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Hypophosphatemia, P... OMIM:239200
Congenital Factor X Deficiency
Hematuria, Hemoperitoneum ORPHA:328
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Renal insufficiency, Splenomegaly, He... ORPHA:33226
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Stage 5 chronic kidney disease, Hyperlipidemia, Brittle hair, Sparse hair OMIM:608612
Adiposis Dolorosa
Sparse pubic hair, Autoimmunity, Sparse axillary hair, Arthritis, Recurrent skin infections ORPHA:36397
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Red-brown urine, Purple urine, Erythroid hyperpla... ORPHA:95159
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Proteinuria, Hypoplastic nipples, Chordee, Micropenis OMIM:300519
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly... OMIM:181000
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Eleva... OMIM:276700
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Elevated circulating C-reactive protein... OMIM:612852
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating creatine kinase concentration, Abnormal urinary color ORPHA:98895
Riddle Syndrome
Enuresis nocturna, Decreased circulating IgG level, Pneumonia, Recurrent pneumonia, Decreased cir... ORPHA:420741
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczematoid dermatitis, Hypertriglyceridemia, Pruritus, Hemolytic anemia OMIM:177000
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Dermatan sulfate excretion in urine,... OMIM:607015
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f... OMIM:251880
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hepatic ste... ORPHA:98907
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Hypertrichosis, Proteinuri... ORPHA:550
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hematuria, Hepatomegaly, Increased circulating surfactant protein level,... ORPHA:60025
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Horseshoe kidney, Absent eyelashes, Renal cyst, Absent eyebrow ORPHA:166035
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Menkes Disease
Decreased circulating ceruloplasmin concentration, Alopecia, Sparse hair, Brittle hair OMIM:309400
Ohdo Syndrome
Proteinuria, Sparse eyebrow OMIM:249620
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hepatic necrosis, Hepatic steatosis, Dicarboxylic aciduria OMIM:231530
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Iridocyclitis, Pancreatitis ORPHA:412057
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Oligosacchariduria, Lymphadenopathy ORPHA:2483
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Cholestasis, Hyperammonemia, Elevated circulati... OMIM:609015
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concent... OMIM:619685
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Pruritus,... OMIM:601847
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H... OMIM:615234
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Alopecia, Hypophosphatemic rickets, Hyperphosphaturia OMIM:163200
Sepsis In Premature Infants
Oliguria, Increased circulating interleukin 6 concentration, Reversible renal failure, Leukocytos... ORPHA:90051
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow, Splenomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:585
Mitochondrial Trifunctional Protein Deficiency 2
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... OMIM:620300
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin con... ORPHA:244242
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Sparse eyebrow, Fine hair, Decreased glomeru... OMIM:614748
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Art... ORPHA:343
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Long ... ORPHA:79329
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Keratoconjunctivitis s... OMIM:617321
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Lassa Fever
Conjunctivitis, Jaundice, Oliguria, Increased circulating IgM level ORPHA:99824
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Autoimmunity, Nephrolith... ORPHA:405
Scheie Syndrome
Hepatomegaly, Rhinitis, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Abnormal abdomen morphology, Osteomyelitis, Thick eyebrow, Hyperbilirubinemia, Otitis media, Hepa... OMIM:619475
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... OMIM:617729
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Nail dysplasia, Anemia, Conjunctivitis OMIM:226600
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Mildly elevated creatine kinase OMIM:600705
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis media, Sp... OMIM:612541
Macs Syndrome
Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Sparse hair, Bronchiectasis, Urethral st... OMIM:613075
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor... ORPHA:85436
Hatipoglu Immunodeficiency Syndrome
Atopic dermatitis, Eczematoid dermatitis, Fair hair, Premature graying of hair, Recurrent otitis ... OMIM:620331
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Sparse lateral eyebrow, Eczematoid dermatitis, ... OMIM:223370
Dengue Fever
Ascites, Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly, Pruritus, Hypoproteinemia ORPHA:99828
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Adams-Oliver Syndrome 2
Alopecia, Small nail, Low anterior hairline OMIM:614219
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Urinary incontinence, Alopecia OMIM:600142
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Listeriosis
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Unusual skin infection,... ORPHA:533
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Hirsutism OMIM:615830
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypocalce... ORPHA:1655
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Leptospirosis
Acute kidney injury, Uveitis, Hepatitis, Skin rash, Optic neuritis, Cellular urinary casts, Lymph... ORPHA:509
Chronic Granulomatous Disease
Eczematoid dermatitis, Otitis media, Splenomegaly, Hepatomegaly, Sinusitis, Inflammatory abnormal... ORPHA:379
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis OMIM:614564
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Alopecia, Inflammatory abnormality of the skin, Spar... OMIM:610768
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Gapo Syndrome
Alopecia, Sparse eyebrow, Nephrolithiasis, Sparse eyelashes, Early balding ORPHA:2067
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Blepharitis, Abnormal eyebrow morphology, Ridged nail, Pustule, Conj... ORPHA:37
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Hypocalcem... OMIM:607143
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Abnormal circulating interleukin concentration, Increased circulating interf... ORPHA:542323
Rothmund-Thomson Syndrome
Sparse eyebrow, Aplastic anemia, Small nail, Alopecia totalis, Malar rash, Skin rash, Sparse eyel... ORPHA:2909
Keutel Syndrome
Recurrent otitis media, Alopecia, Recurrent sinusitis ORPHA:85202
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... ORPHA:811
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy OMIM:254400
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Dry hair, Fine hair, Malar rash, Renal insufficiency... ORPHA:191
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Autoimmunity, Esophagitis, Hashimoto thyroiditis, Pat... ORPHA:90289
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Small nail, Renal insufficiency, Proteinuria... OMIM:251300
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,... ORPHA:30391
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Small nail, Eczematoid dermatitis, Persistence of h... OMIM:617052
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Recurrent otitis media, Pili ... OMIM:261990
Pachydermoperiostosis
Eczematoid dermatitis, Abnormal fingernail morphology, Osteomyelitis, Splenomegaly, Hepatomegaly,... ORPHA:2796
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Alopecia, Coarse hair, Exocrine pancreatic insufficiency, Pancreati... ORPHA:2750
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis,... ORPHA:565612
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Alopecia, Leukocytosis, Hepatic steatosis, Micropenis, Azotemia OMIM:619321
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito... ORPHA:32960
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Chops Syndrome
Coarse hair, Aspiration pneumonia, Horseshoe kidney, Long eyelashes, Thick eyebrow, Vesicouretera... OMIM:616368
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Sparse eyebrow, Nail dystrophy, Proteinuria, Left ventricular... OMIM:619127
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustule, Myoca... ORPHA:31205
Caffey Disease
Increased circulating antibody level ORPHA:1310
Antisynthetase Syndrome
Autoimmunity, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconj... ORPHA:81
Bartsocas-Papas Syndrome
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Renal hypoplasia/aplasia, Apl... ORPHA:1234
Gapo Syndrome
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... OMIM:230740
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach... OMIM:607765
Thrombocytopenia 1
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... OMIM:313900
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Hydronephrosis, Patchy alopecia, Scarring alopecia... ORPHA:35173
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Eczematoid dermatitis, Breast aplasia, Trichorrhexis nodosa... ORPHA:238468
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Myeloma, Multiple
Paraproteinemia OMIM:254500
Viss Syndrome
Atopic dermatitis, Alopecia, Eczematoid dermatitis, Increased circulating IgE level, Chronic gast... OMIM:619472
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar... ORPHA:2269
Pemphigus Foliaceus
Autoimmunity, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, P... ORPHA:79481
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Renal agenesis, Facial hirsutism, Thick eyebrow, Hirsuti... ORPHA:247768
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly,... OMIM:133540
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy... ORPHA:2309
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Cockayne Syndrome A
Dry hair, Renal insufficiency, Splenomegaly, Thymic hormone decreased, Proteinuria, Hepatomegaly,... OMIM:216400
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Alopecia, Hypoplastic fingernail, Hypercholesterolem... ORPHA:2457
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... OMIM:620367
Johnson Neuroectodermal Syndrome
Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow ORPHA:2316
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B... ORPHA:508542
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Intrahepatic biliary dysgenesis, Hydronephrosis, Prolonged neonatal jaundice, Hepa... OMIM:214100
Olmsted Syndrome 2
Sparse hair, Alopecia universalis, Woolly hair, Pruritus, Cheilitis OMIM:619208
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Coarse hair, Cholelithiasis, Eczematoid dermatitis, Pancreatic hypoplas... ORPHA:83617
Alström Syndrome
Chronic kidney disease, Frontal balding, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glomer... ORPHA:64
Scleromyxedema
Paraproteinemia, Pruritus, Abnormality of the kidney, Elevated circulating creatine kinase concen... ORPHA:167635
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency, Ascites, Hypoalbuminemia OMIM:610965
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis, Posterior blepharitis, Blepharitis OMIM:300918
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia OMIM:612079
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Alopecia totalis, Elevated circulating creatine kinase concentration, Thrombocyto... OMIM:618775
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Multiple bladder diverticula ORPHA:2728
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutropenia, Re... OMIM:617827
Holoprosencephaly
Highly arched eyebrow, Abnormality of the urinary system, Abnormality of the spleen, Thick eyebro... ORPHA:2162
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Pruritus, Sparse ... OMIM:614594
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Recurrent skin i... ORPHA:477
Orofaciodigital Syndrome I
Hepatic fibrosis, Alopecia, Dry hair, Pancreatic cysts, Hepatic cysts, Proteinuria, Sparse hair, ... OMIM:311200
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Renal ins... ORPHA:73263
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Frontal balding, Elevated circu... OMIM:602668
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,... OMIM:613812
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Portal hypertension, Cholecystitis, Nephrolithiasis, Hematuria, Hepatic arteriove... ORPHA:774
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Alopecia, Inflammation of the large intestine, Bilia... ORPHA:881
Behcet Syndrome
Patchy alopecia, Iridocyclitis, Erythema nodosum, Arthritis, Iritis, Epididymitis, Decreased leve... OMIM:109650
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... OMIM:616878
Distal Deletion 19P
Alopecia, Thick eyebrow, Decreased circulating antibody level ORPHA:96129
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A... ORPHA:544488
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Decreased... ORPHA:77293
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Abnormality of the urethra, Urinary retention, Hirsutism, Urinary incontinence, Dysuria ORPHA:2795
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly, Nephrocalcinosis, Skin rash ORPHA:53715
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cirrhosi... OMIM:301068
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Elevated 8(9)-cholestenol, Sparse eyelashes, Hydronephrosis, Patchy alopecia, Ery... OMIM:302960
Bardet-Biedl Syndrome 20
Proteinuria, Pancreatitis, Micropenis, Hypercholesterolemia OMIM:619471
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal hair morphology, Scleritis, Absent eyebrow, Abnormality of the kidney, Sparse hair, Abno... ORPHA:2273
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inversa, Trichorrhe... OMIM:617337
African Trypanosomiasis
Alopecia, Myelitis, Keratitis, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegal... ORPHA:3385
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Alopecia, Pelvic kidney OMIM:613001
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Papillary renal cell carcinoma, Absent eyelashes... ORPHA:363618
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Abdominal situs inversus, Sparse body hair, Sparse eyelashes, Abnormali... ORPHA:2108
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce... OMIM:617913
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Small nail, Thin nail OMIM:242100
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Leprosy
Alopecia, Uveitis, Sparse body hair, Abnormality of the spleen, Abnormality of the liver, Loss of... ORPHA:548
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Rothmund-Thomson Syndrome, Type 2
Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Nail dystrophy, Sparse eye... OMIM:268400
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia ORPHA:1647
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Small nail, Polysplenia, Supernumerary nipple, Increas... ORPHA:373
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... ORPHA:288
Japanese Encephalitis
Infectious encephalitis, Hyponatremia, Increased circulating antibody level, Neutrophilia, Increa... ORPHA:79139
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Abnormal toenail morphology ORPHA:1005
Blau Syndrome
Nephropathy, Posterior uveitis, Keratitis, Abnormality of the liver, Stage 5 chronic kidney disea... ORPHA:90340
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Hyp... ORPHA:26793
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Focal Dermal Hypoplasia
Alopecia, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosi... ORPHA:2092
Behçet Disease
Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Increa... ORPHA:117
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Alopecia, Sparse hair ORPHA:659
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Hyperlipidemia, Hypercholesterolemia, Calcinosis, Hepatomegaly, Sparse scalp hair, Onyc... OMIM:248370
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat... ORPHA:51
Short Syndrome
Alopecia, Sparse hair ORPHA:3163
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Alopecia, Small nail, Elevated 8(9)-cholestenol, Hydronephrosis, Eleva... OMIM:308050
Aymé-Gripp Syndrome
Breast hypoplasia, Long eyelashes, Proteinuria, Sparse scalp hair, Pericarditis ORPHA:1272
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Glycosuria, Premature graying of hair, Abnormal hair morphology, S... ORPHA:79474
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Cheilitis, Recurrent pneumonia, Chapped lip, Recurrent skin infections, Nai... ORPHA:158668
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi... ORPHA:567983
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo... ORPHA:86816
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Anemia, Neutropeni... ORPHA:221008
Bartsocas-Papas Syndrome 1
Alopecia, Small nail, Alopecia totalis, Absent eyelashes, Absent eyebrow, Anonychia, Micropenis, ... OMIM:263650
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, Calcinosis ORPHA:90154
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Alopecia, Subungual hyperkeratosis, Atrichia, Multicystic kidney dyspl... OMIM:308205
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... OMIM:106260
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous candidiasis,... OMIM:147060
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Cholelithiasis, Impaired T cell function, Recurre... OMIM:188400
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Fair hair, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Fair hair, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis ... ORPHA:363958
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent eyelashes ORPHA:90153
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Anemia, Neutropeni... ORPHA:221016
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Sparse eyebrow, Alopecia, Long penis, Small nail, Alopecia of scalp, Sparse eyelashes,... OMIM:264090
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Autosomal Recessive Robinow Syndrome
Alopecia, Multicystic kidney dysplasia, Fingernail dysplasia, Long eyelashes, Hydronephrosis, Hyp... ORPHA:1507
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Splenomegaly, Nephrolithiasis, Hirsutism, Cirrhosis, Hypertriglyceridemia, Hep... OMIM:608594
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Satoyoshi Syndrome
Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes ORPHA:3130
Lipodystrophy, Congenital Generalized, Type 2
Splenomegaly, Hepatic steatosis, Nephrolithiasis, Hirsutism, Cirrhosis, Hypertriglyceridemia, Hep... OMIM:269700
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Renal tubular dysfunction, Ab... ORPHA:99885
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Keratoconjunctivitis sicca, Periodontitis, Hypertriglyceridemia ORPHA:536532
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Sparse scalp hair OMIM:614008
Ane Syndrome
Alopecia ORPHA:157954
Xeroderma Pigmentosum
Aminoaciduria, Alopecia, Keratitis, Blepharitis ORPHA:910
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis OMIM:609638
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Psoriasiform dermatitis, Chronic irritat... ORPHA:69085
Cushing Disease
Increased urinary cortisol level, Lymphopenia, Leukocytosis, Hirsutism, Recurrent cutaneous funga... ORPHA:96253
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... ORPHA:2232
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Cardiomegaly, Absent ... ORPHA:158687
Williams Syndrome
Chronic otitis media, Cholelithiasis, Renal insufficiency, Renal duplication, Multiple renal cyst... ORPHA:904
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... OMIM:309000
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail ... ORPHA:3107
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Sparse pubic hair, Renal hypoplasia, Fine hair, Breast aplasia, Pyelon... OMIM:181270
Ring Chromosome 13 Syndrome
Alopecia, Urogenital sinus anomaly, Hypoplasia of the gallbladder, Micropenis, Hypospadias, Abnor... ORPHA:96176
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Hyperlipidemia, Micropenis, Sparse hair OMIM:241080
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Highly arched eyebrow, Decreased circulating IgA level, Decrease... OMIM:617062
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Abnormality of the urinary system, Hydroureter, Thin eyebrow, Loss of eyelashes, Hydron... ORPHA:2636
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Pruritus, Periodontitis OMIM:619269
Phakomatosis Pigmentokeratotica
Unilateral renal hypoplasia, Hypophosphatemic rickets, Nephroblastoma, Patchy alopecia, Renal tra... ORPHA:2874
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Defective production of NFKB1-dependent cytokines, Hepatomegaly, Aplasia of the swe... OMIM:612132
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatitis, Pustul... ORPHA:294023
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Acne, Hirsutism OMIM:158330
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Nail dysplasia, Sparse hair OMIM:616682
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Increased urinary cortisol level, Hirsutism, Hypokalemia, Acne ORPHA:786
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen... OMIM:606002
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Hepatom... ORPHA:707
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Increased urinary cortisol level, Lymphopenia, Pancreatic adenoca... ORPHA:99889
Cysticercosis
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... ORPHA:1560
Trichotillomania
Alopecia OMIM:613229
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Sparse eyebrow, Decreased circulating IgG level, Horseshoe kidney, Sec... ORPHA:500150
Woodhouse-Sakati Syndrome
Micropenis, Alopecia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Steinert Myotonic Dystrophy
Alopecia, Early balding, Cholelithiasis, Hypercholesterolemia ORPHA:273
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Aspiration pneumonia, Reduced thyroxin-binding globulin, Prote... ORPHA:79318
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Sympathetic Ophthalmia
Posterior uveitis, Alopecia, Poliosis ORPHA:79098
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Jaundice OMIM:614231
Vascular Ehlers-Danlos Syndrome
Alopecia, Periodontitis, Cystocele, Hypokalemia, Bladder diverticulum, Osteoarthritis, Aplasia/Hy... ORPHA:286
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Alopecia totalis, Loss of eyelashes, Dystrophic fingernails, Patchy alopecia,... ORPHA:740
Focal Dermal Hypoplasia
Supernumerary nipple, Horseshoe kidney, Bifid ureter, Ridged nail, Absent toenail, Nail dystrophy... OMIM:305600
Adams-Oliver Syndrome 1
Alopecia, Small nail, Supernumerary nipple OMIM:100300
Pallister-Killian Syndrome
Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Sparse eyelashes, Ren... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Scarf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Scarf1.

No publications found that use IMPC mice or data for Scarf1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Scarf1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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