Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
E2F transcription factor 2
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by E2f2 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 E2f2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... OMIM:617006
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Pleuritis, Cutaneous photosensit... OMIM:152700
Immunodeficiency 51
Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia... OMIM:613953
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Pustular rash, Lymphopenia, Cutis marmorata, Follicular hyperplasia, Pustule, Antiphosp... OMIM:615934
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... OMIM:620321
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Anti-glutamic acid d... OMIM:304790
Classic Mycosis Fungoides
Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, ... ORPHA:2584
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrh... ORPHA:99931
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... OMIM:619644
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple... OMIM:608971
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Complement Component 4A Deficiency
Purpura, Cutaneous photosensitivity, Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Abnormal imm... ORPHA:90159
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre... OMIM:607271
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
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Conjunctivitis, Skin ulcer, O... ORPHA:47
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... ORPHA:567544
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Quinquaud Folliculitis Decalvans
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre... ORPHA:346
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h... ORPHA:139402
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, A... ORPHA:397596
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po... ORPHA:781
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe... ORPHA:277
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Poor wound healing, Eczematoid dermatitis, Hepat... OMIM:620565
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant... OMIM:616414
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency 23
Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rheumatoid... OMIM:615816
Acquired Ichthyosis
Erythema, Dry skin, Autoimmunity, Renal insufficiency, Recurrent skin infections ORPHA:454
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ... OMIM:308230
Cystic Echinococcosis
Peritoneal abscess, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Abscess, Elevated c... ORPHA:400
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Erythema, Scarring alopecia of scalp, Pustule ORPHA:222
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Autoimmune antibody pos... ORPHA:60026
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Simple Cryoglobulinemia
Cold urticaria, Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Purpur... ORPHA:91139
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Bullous Impetigo
Erythema, Abnormality of the lymphatic system, Pustule, Glomerulopathy, Septic arthritis, Recurre... ORPHA:36237
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity ORPHA:33314
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Immunodeficiency 27A
Pneumonia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukoc... OMIM:209950
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea... OMIM:613495
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Systemic ... ORPHA:158061
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Hirsutism, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, N... OMIM:608709
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmu... ORPHA:229717
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, Recurrent upp... OMIM:618806
Hydroa Vacciniforme
Papulovesicular eruption, Erythema, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der... ORPHA:330058
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ... ORPHA:572
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Adult-Onset Still Disease
Bone marrow hypocellularity, Erythema, Elevated circulating hepatic transaminase concentration, H... ORPHA:829
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... OMIM:618495
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasi... OMIM:614470
Hepatitis Delta
Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer... ORPHA:402823
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Erythema, Cholestasis, Hepatosplenomegaly, Abnormal cir... OMIM:620376
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis... OMIM:614878
Cryoglobulinemic Vasculitis
Skin ulcer, Abnormality of the liver, Cutis marmorata, Renal insufficiency, Splenomegaly, Petechi... ORPHA:91138
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr... OMIM:301082
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Dry skin, Chronic hepatitis, Decreased proportion of CD4-positive helper ... ORPHA:289390
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Recurrent otit... OMIM:614468
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Erythema, Telangiectasia macularis eruptiva perstans, Urticaria OMIM:154800
Omenn Syndrome
Pneumonia, Alopecia, Dry skin, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Spleno... ORPHA:39041
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Alopecia, Aplasia/Hypoplasia o... ORPHA:227990
Porphyria Cutanea Tarda
Portal inflammation, Poor wound healing, Systemic lupus erythematosus, Hepatic steatosis, Fragile... ORPHA:101330
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Bronchitis, Cholestasis, Emphysema, Jaundice, Cirrhosis, Perinuclear ... ORPHA:60
Legionnaires Disease
Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal pleura mo... ORPHA:549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, ... ORPHA:542592
Acquired Partial Lipodystrophy
Progeroid facial appearance, Autoimmunity, Hepatic steatosis, Proteinuria, Generalized hirsutism,... ORPHA:79087
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly... ORPHA:331206
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Microscopic Polyangiitis
Erythema, Uveitis, Oliguria, Skin ulcer, Subcutaneous hemorrhage, Cutis marmorata, Autoimmunity, ... ORPHA:727
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy, Erythema ORPHA:158014
Erythrokeratodermia Variabilis
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Skin rash, Generalized hirsutism, Cutaneo... ORPHA:317
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Renal insufficiency, Ecchy... ORPHA:36234
Granulomatous Slack Skin
Erythema, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology, Redundant skin, ... ORPHA:33111
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto... ORPHA:228426
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... ORPHA:436159
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Alopecia, Aplasia/Hypoplasia o... ORPHA:227982
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Nodular Non-Suppurative Panniculitis
Erythema, Autoimmunity, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Pannicul... ORPHA:33577
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E... OMIM:614700
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Systemic lupus erythematosu... ORPHA:90280
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Increased circulating an... ORPHA:48435
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... OMIM:617609
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Autoimmunity, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Sydenham Chorea
Septic arthritis, Erythema, Recurrent streptococcus pneumoniae infections, Endocarditis ORPHA:306731
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating IgG level, Recurrent upper respirat... OMIM:618459
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Recu... ORPHA:83471
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... ORPHA:93126
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Arthritis, Ne... ORPHA:33110
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut... ORPHA:905
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Alopecia, Anti-La/SS-B antibody positivit... ORPHA:536
Cutaneous Small Vessel Vasculitis
Erythema, Cutis marmorata, Skin rash, Recurrent skin infections, Purpura, Urticaria ORPHA:889
Ulerythema Ophryogenesis
Sparse lateral eyebrow, Dry skin, Facial erythema, Contact dermatitis, Acne ORPHA:3406
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue ORPHA:90160
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cir... ORPHA:79278
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Systemic lupus erythematosus, Facial hirs... OMIM:170100
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Early cutaneous photosensitivity, Erythema OMIM:219095
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
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
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva... ORPHA:562639
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Prolidase Deficiency
Erythema, Skin ulcer, Abnormal fingernail morphology, Dry skin, White forelock, Splenomegaly, Rec... ORPHA:742
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Pan... OMIM:619183
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Anti-BP180 antibody positivity, Psoriasiform dermatitis, Autoimm... ORPHA:703
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin, Concave nail ORPHA:530838
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Alopecia, Renal ... OMIM:137940
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Dermatitis Herpetiformis
Erythema, Eczematoid dermatitis, Microcytic anemia, Autoimmunity, Skin vesicle, Urticaria ORPHA:1656
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... ORPHA:656
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... OMIM:615387
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Aicardi-Goutieres Syndrome 1
Erythema, Elevated circulating hepatic transaminase concentration, Chilblains, Splenomegaly, Pete... OMIM:225750
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count, Autoimmunity, Urticaria OMIM:131430
Cutaneous Mastocytoma
Erythema, Telangiectasia macularis eruptiva perstans, Elevated total serum tryptase, Dermatograph... ORPHA:79455
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Facial erythema, C... OMIM:603165
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Skin rash, Diffuse telan... ORPHA:280779
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
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Recurrent sinopulmonary infections, Decreased circu... OMIM:609529
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Systemic Lupus Erythematosus 17
Alopecia, Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopen... OMIM:301080
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hepatitis, Systemic lupus erythematosus, Anti-acetylcholine rec... ORPHA:589
Kikuchi-Fujimoto Disease
Erythema, Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Cutaneous photosens... ORPHA:50918
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Decreased circulating antibody level, Autoimmu... OMIM:616576
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent respiratory infections, Increased circulating... ORPHA:217390
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Generalized abnormality of skin, Urticaria, Increase... ORPHA:98848
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infi... ORPHA:87503
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Primary Erythromelalgia
Leukemia, Erythema, Recurrent respiratory infections ORPHA:90026
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Aut... OMIM:243150
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased urinary urate, Decreased lymphocyte proliferation in response to mitogen, Re... OMIM:613179
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Increased proportion of exhausted T cells, Stomatitis, Emphysema OMIM:618307
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Felty Syndrome
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... ORPHA:47612
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Hepa... ORPHA:294
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Systemic Sclerosis
Chronic kidney disease, Digital ulcer, Telangiectasia, Glomerulonephritis, Abnormality of the kid... ORPHA:90291
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614196
Centrifugal Lipodystrophy
Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Reduced subcutaneous adi... ORPHA:90156
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni... OMIM:601457
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias... OMIM:619428
Protoporphyria, Erythropoietic, 1
Erythema, Hepatic failure, Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia OMIM:177000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... OMIM:194380
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Hypertrichosis OMIM:617524
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... OMIM:209920
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody ... ORPHA:221
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
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly, Portal hyp... OMIM:613385
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Oligoarthritis, Neutrop... OMIM:614204
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Emphysema, Ly... ORPHA:1572
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... ORPHA:186
Lig4 Syndrome
Erythema, Acute leukemia, Pancytopenia, Leukocytosis, Low anterior hairline, Telangiectasia of th... ORPHA:99812
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Melioidosis
Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Cirrhosis, Glomerulon... ORPHA:470
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Sjögren-Larsson Syndrome
Inflammatory abnormality of the eye, Erythema, Dry skin, Urticaria ORPHA:816
Chronic Mucocutaneous Candidiasis
Erythema, Hepatitis, Skin ulcer, Recurrent urinary tract infections, Abnormal fingernail morpholo... ORPHA:1334
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly... OMIM:614376
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... ORPHA:464370
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA... ORPHA:1855
Subcorneal Pustular Dermatosis
Erythema, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating... ORPHA:48377
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m... OMIM:613101
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Lymphadeno... ORPHA:343
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... OMIM:612783
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep... OMIM:615285
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Avian Influenza
Pneumonia, Acute kidney injury, Myelitis, Increased circulating lactate dehydrogenase concentrati... ORPHA:454836
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat... OMIM:617780
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema OMIM:212360
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Functional ab... ORPHA:391487
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly... OMIM:620632
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lymphopenia, Recur... ORPHA:486
Riddle Syndrome
Enuresis nocturna, Pneumonia, Recurrent pneumonia, Decreased circulating IgG level, Erythema, Bro... ORPHA:420741
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Mycosis Fungoides
Erythema, Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy OMIM:254400
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Scaling skin ORPHA:263534
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... OMIM:619381
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Schnitzler Syndrome
Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase... ORPHA:37748
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Elevated total serum tryptase, Generalized abnormality of ski... ORPHA:79457
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Impaired T cell function, Dry skin, Alopecia of scalp, Splenomegaly, Low alkal... OMIM:201100
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Actinic Prurigo
Pyoderma, Cheilitis, Cutaneous photosensitivity, Glomerulonephritis OMIM:174770
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin ORPHA:90158
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... OMIM:614699
Familial Mediterranean Fever
Nephropathy, Erythema, Nephrocalcinosis, Erysipelas, Ascites, Acute hepatic failure, Leukocytosis... ORPHA:342
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:616730
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ... OMIM:243700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, El... OMIM:208085
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, IgA... OMIM:618348
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erythema, Uveitis, Erysipelas, Bruising susceptibility, Fasciitis, Leukocytosis, Splenomegaly, Sk... ORPHA:32960
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope... OMIM:603552
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... OMIM:615207
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Chronic hepatitis, Cirrhosis, Uncombable hair, Brittle hair, H... OMIM:614602
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chron... OMIM:618282
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur... ORPHA:93552
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Paronychia, Perioral erythema, Increased circulating IgE level, Pustule, Eryth... OMIM:614328
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplas... OMIM:612843
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dystrophic toenail, Crusting erythematous dermatitis, Dystrophic fingernails, Telangiec... ORPHA:158673
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis, Sparse lateral eyebrow ORPHA:363523
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Lympho... OMIM:615518
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Rec... OMIM:307200
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl... OMIM:613404
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia, Pur... ORPHA:375
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Sparse hair, Onychogryposis, Alopecia, Breast aplasia, Breast hyp... OMIM:308300
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Lymphatic Filariasis
Urethral obstruction, Abnormal lung morphology, Lymphadenitis, Hypereosinophilia, Orchitis, Hemat... ORPHA:2035
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ... ORPHA:540
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... OMIM:615767
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Congenital Enterovirus Infection
Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop... ORPHA:292
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Autoimmunity, Thrombocytopenia, B lymphocytope... ORPHA:169079
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Emphysema, Autoimmunity, Renal insufficiency, Splenomegaly, Episcleritis, Sk... ORPHA:36412
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, H... ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J... OMIM:230350
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep... OMIM:105200
Mixed Connective Tissue Disease
Nephropathy, Alopecia, Mediastinal lymphadenopathy, Leukopenia, Autoimmunity, Pleuritis, Splenome... ORPHA:809
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Keratitis, Dry skin, Nail dystrophy, Sparse eyelashes, Dystrophic f... OMIM:308800
Relapsing Polychondritis
Erythema, Hematuria, Scleritis, Inflammatory abnormality of the eye, Purpura, Alopecia, Renal ins... ORPHA:728
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Sézary Syndrome
Alopecia, Dry skin, Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Nai... ORPHA:3162
Polyarteritis Nodosa
Erythema, Skin ulcer, Cutis marmorata, Abnormality of the kidney, Abnormal lung morphology, Pleur... ORPHA:767
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Decreased acid sphingomyelinase activity, Thr... OMIM:607616
Lichen Planopilaris
Alopecia, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Onycholysis ORPHA:525
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Telangiectasia, Abnor... ORPHA:284227
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Elevated circulating hepatic tr... ORPHA:340
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:100026
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Decreased circulating IgG level, Skin ulcer, Increased circulating IgE level, ... OMIM:620603
Fusariosis
Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Granuloma, Osteom... ORPHA:228119
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ... OMIM:620296
Rheumatic Fever
Erythema, Abnormal pleura morphology, Pallor, Recurrent pharyngitis, Arthritis, Sinusitis, Myocar... ORPHA:3099
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,... OMIM:301078
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... OMIM:618108
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ... OMIM:615122
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Splenomegaly, Chilblai... OMIM:615846
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... OMIM:618963
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Erythema Of Acral Regions
Erythema OMIM:227000
Familial Tumoral Calcinosis
Erythema, Nephrocalcinosis, Skin rash, Splenomegaly, Hepatomegaly ORPHA:53715
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Drug-Induced Localized Lipodystrophy
Erythema, Reduced subcutaneous adipose tissue ORPHA:90157
Keratolytic Winter Erythema
Erythema OMIM:148370
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Anti... OMIM:233450
Microlissencephaly
Pneumonia ORPHA:1083
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Cutis ma... ORPHA:3260
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,... ORPHA:436252
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Angioedema, Vascular skin abnormality, Bruising susceptibility, Renal insuf... ORPHA:761
Snakebite Envenomation
Erythema, Acute kidney injury, Angioedema, Ecchymosis, Thrombocytopenia ORPHA:449285
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... ORPHA:2585
Mucopolysaccharidosis-Plus Syndrome
Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste... OMIM:617303
Peeling Skin Syndrome 2
Erythema, Abnormality of the nail, Scaling skin OMIM:609796
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... OMIM:607944
Familial Cold Urticaria
Urticaria, Conjunctivitis, Arthritis, Erythema ORPHA:47045
Cold Agglutinin Disease
Abnormal urinary color, Autoimmunity, Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemoly... ORPHA:56425
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Omenn Syndrome
Pneumonia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ... OMIM:603554
Pearson Marrow-Pancreas Syndrome
Erythema, Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduri... OMIM:557000
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema OMIM:617526
Annular Erythema
Erythema OMIM:106500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... OMIM:616871
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Reduced natural killer cell activ... OMIM:616050
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi... ORPHA:64743
Neutrophilic Dermatosis, Acute Febrile
Erythema, Acne inversa, Panniculitis, Pyoderma gangrenosum, Anemia, Cystic acne OMIM:608068
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recurrent phary... ORPHA:108
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis... ORPHA:85414
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Alopecia universalis, Alopecia, Nephrocalcinosis, Cholelithiasis, Chronic muc... OMIM:240300
Toxic Epidermal Necrolysis
Erythema, Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Sk... ORPHA:537
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer ORPHA:2337
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Autoimmunity, Crusting erythematous dermatitis, Pustule, Skin ... ORPHA:79481
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, Recurrent re... ORPHA:584
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul... ORPHA:319218
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Recurrent upper respiratory tract inf... OMIM:615758
Acrodermatitis Enteropathica
Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Generalized abnormality of skin, ... ORPHA:37
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Decreased circulating ... OMIM:619752
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Cutis marmorata, Livedo ra... OMIM:615688
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno... ORPHA:440713
Stevens-Johnson Syndrome
Erythema, Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Re... ORPHA:36426
Urachal Cyst
Erythema, Leukocytosis, Abscess, Hematuria, Peritonitis, Urachus fistula, Abdominal mass, Dysuria... ORPHA:488
Atrophoderma Vermiculata
Erythema ORPHA:79100
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Bloom Syndrome
Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Recurre... OMIM:210900
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Proteinuria, Antiphosp... ORPHA:90060
Juvenile Dermatomyositis
Erythema, Alopecia, Skin ulcer, Dry skin, Autoimmunity, Skin rash, Myositis, Telangiectasia of th... ORPHA:93672
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... ORPHA:882
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Autoimmunit... ORPHA:449400
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Antin... OMIM:617388
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Localized Scleroderma
Erythema, Abnormal skin adnexa morphology, Fasciitis, Esophagitis, Autoimmunity, Hashimoto thyroi... ORPHA:90289
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Pallor, Autoimmune hemolytic ... ORPHA:90033
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Generalized abnormality of skin, Increased circulating IgE level,... ORPHA:2902
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Livedo, Decreased circulating total IgM, Recurrent ... OMIM:615139
Kawasaki Disease
Abnormality of nail color, Sterile pyuria, Hepatitis, Cervical lymphadenopathy, Abnormal pulmonar... ORPHA:2331
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Yellow Nail Syndrome
Nephropathy, Biliary tract neoplasm, Yellow nails, Toenail dysplasia, Recurrent respiratory infec... ORPHA:662
Mal De Meleda
Perioral erythema, Fragile nails OMIM:248300
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:615631
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Alopecia, Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficienc... OMIM:269200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Increased circulating lactate dehydrogenase c... ORPHA:158057
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Premature graying of hair, Microcytic anemia, Recurrent otitis media, Increased circula... OMIM:256040
Immunodeficiency 89 And Autoimmunity
Anti-thyroglobulin antibody positivity, Increased circulating IgE level, Crohn's disease, Antinuc... OMIM:619632
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Zygomycosis
Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Renal insufficiency, Pleural effu... ORPHA:73263
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of... ORPHA:1046
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormal renal physiology, Systemic lupus erythematosus, Malar rash, Pleuritis, Antinuclear antib... OMIM:609939
Ichthyosis With Erythrokeratoderma
Erythema, Leukonychia, Erythroderma, Scaling skin, Nail pits OMIM:620507
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Incontinentia Pigmenti
Erythema, Alopecia, Ridged fingernail, Keratitis, Dystrophic toenail, Skin ulcer, Supernumerary n... ORPHA:464
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hepatomegaly, Decreased liver function, Homocitrullinuria OMIM:238970
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre... OMIM:193670
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Abnormal circulating lactate dehydrogenase concentration, Autoimmuni... ORPHA:98827
Ifap Syndrome 2
Atrichia, Posterior blepharitis, Keratitis, Perioral erythema, Nail dystrophy, Angular cheilitis,... OMIM:619016
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Drug-Induced Lupus Erythematosus
Malar rash, Petechiae, Hematuria, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocy... ORPHA:231111
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Autoimmunity, Renal insufficiency, Skin ras... ORPHA:183
Muckle-Wells Syndrome
Nephropathy, Renal amyloidosis, Conjunctivitis, Urticaria, Recurrent aphthous stomatitis, Episcle... ORPHA:575
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis... OMIM:242860
Blau Syndrome
Nephropathy, Posterior uveitis, Erythema, Keratitis, Skin ulcer, Dry skin, Abnormality of the liv... ORPHA:90340
Slc35A1-Cdg
Pneumonia, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal platelet gran... ORPHA:238459
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic... ORPHA:169090
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr... OMIM:619868
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Palmoplantar erythema, Brittle hair, Spars... OMIM:104100
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,... ORPHA:906
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Aplasia Cutis Congenita
Erythema, Skin ulcer ORPHA:1114
Infantile Sialic Acid Storage Disease
Fair hair, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic s... OMIM:269920
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Erythema, Skin vesicle, Telangiectasia of the skin, Urticaria ORPHA:2135
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... OMIM:614576
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran... OMIM:619525
Shigellosis
Pneumonia, Acute kidney injury, Uveitis, Hepatic failure, Microangiopathic hemolytic anemia, Ulce... ORPHA:810
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As... ORPHA:567546
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Petechiae, Lymphadenopat... ORPHA:79477
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 58
Allergic rhinitis, Cold urticaria, Esophagitis, Psoriasiform lesion, Cutaneous photosensitivity, ... OMIM:618131
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia... OMIM:614868
Bloom Syndrome
Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Telangiectasia, Acute mye... ORPHA:125
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra... OMIM:214950
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt... OMIM:619774
Fixed Drug Eruption
Crusting erythematous dermatitis, Erythema, Stomatitis, Generalized abnormality of skin ORPHA:293812
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... OMIM:619463
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Mixed-Type Autoimmune Hemolytic Anemia
Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Pallor, Skin rash, Autoimmune... ORPHA:90036
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Cutaneous photosensi... OMIM:618892
Transgrediens Et Progrediens Palmoplantar Keratoderma
Dystrophic toenail, Dystrophic fingernails, Recurrent cutaneous fungal infections, Angular cheili... ORPHA:495
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,... ORPHA:77259
Livedoid Vasculopathy
Poor wound healing, Polycythemia, Skin ulcer, Systemic lupus erythematosus, Macular purpura, Panc... ORPHA:542643
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom... ORPHA:42642
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemo... ORPHA:760
Atelis Syndrome 1
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Dry skin, Leuk... OMIM:620184
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino... OMIM:618523
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Horizontal eyebrow, Chapped lip, Generalized abnormality of skin, Chronic monilial nail... ORPHA:294023
Chronic Graft Versus Host Disease
Erythema, Alopecia, Elevated circulating hepatic transaminase concentration, Poor wound healing, ... ORPHA:99921
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hepatitis, Dry skin, Autoimmunity, Macrocytic anemia, Hashimoto thyroiditis, E... ORPHA:199299
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Normocytic anemia, Pneumonia, Abnormality of the hepatic vasculature, Nodular regene... ORPHA:247691
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis OMIM:618398
Sarcoidosis, Susceptibility To, 2
Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor... OMIM:612387
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin... ORPHA:499009
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Alopecia, Generalized abnormality of skin, Decreased circulating antibody level, Nail d... ORPHA:79396
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ... OMIM:615482
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Striae distensae, Skin vesicle, Palmoplantar erythema, Facial erythema ORPHA:64745
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Splenomegaly, Neutrop... ORPHA:231401
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ... OMIM:613489
Macrocephaly/Autism Syndrome
Coarse hair, Recurrent otitis media, Lymphopenia, Penile freckling, Splenomegaly, Cutis laxa, Hep... OMIM:605309
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp... ORPHA:158029
Inclusion Body Myositis
Autoimmunity ORPHA:611
Hereditary Orotic Aciduria
Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,... ORPHA:30
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Hepatic failure, Cholestasis, Dry skin, Portal hypert... OMIM:607626
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Odontoonychodermal Dysplasia