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Gene: Trim21 MGI:106657

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Gene Summary

Name:
tripartite motif-containing 21
Synonyms:
Ro52,  Ssa1

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IMPC Data Collections

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.

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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.

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Anti-nuclear antibody assay

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6 Images

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DSS Histology

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8 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

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9 Images

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Legacy Phenotype Associated Images
Trim21em1(IMPC)Wtsi
HOM, Male, WTSI
Trim21em1(IMPC)Wtsi
WT, Male, WTSI
Trim21em1(IMPC)Wtsi
HOM, Female, WTSI
Trim21em1(IMPC)Wtsi
WT, Male, WTSI
Trim21em1(IMPC)Wtsi
WT, Male, WTSI

View all 84 images

Trim21em1(IMPC)Wtsi
abnormal placement of pupils, HOM, Female, WTSI

Human diseases caused by Trim21 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 Trim21 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Candidiasis, Familial, 6
Chronic mucocutaneous candidiasis OMIM:613956
Lymphoblastic Transformation, Intrinsic Defect In
Chronic mucocutaneous candidiasis OMIM:247450
Lymphoblastic Transformation, Inhibition Of
Chronic mucocutaneous candidiasis OMIM:247430
Lymphokine Deficiency
Chronic mucocutaneous candidiasis OMIM:247650
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613737
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in ... OMIM:618534
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613736
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Autoimmunity, Serositis... ORPHA:567544
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Autoimmunity, Recurrent sinusitis, Recurrent otitis media, Recurr... OMIM:240500
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus ORPHA:330064
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, B lymphocytopenia, T lymphocytopenia, Lack of T cell... ORPHA:277
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... OMIM:601859
Chilblain Lupus
Pruritis on hand, Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the sk... ORPHA:90280
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Recurrent ot... ORPHA:444463
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Lymphadenopa... ORPHA:69126
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... ORPHA:54370
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:603909
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... ORPHA:169160
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Eczema, Co... OMIM:607271
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Antinuclear a... OMIM:615559
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Sp... OMIM:105200
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... OMIM:613496
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis OMIM:216950
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... OMIM:619220
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Hepatomegaly, Erythroderma, Colitis, Thrombocytopenia, Splen... ORPHA:540
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i... OMIM:607594
Immunodeficiency 104
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Lymphadenop... OMIM:608971
Candidiasis, Familial, 8
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis OMIM:615527
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:169154
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Decrea... OMIM:300853
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-positive hemolyti... OMIM:304790
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Pityriasis Rubra Pilaris
Pustule, Pruritus, Eczema, Erythroderma ORPHA:2897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media... OMIM:618495
Immunodeficiency 27A
Anemia, Enlarged mesenteric lymph node, Rheumatoid factor positive, Hepatosplenomegaly, Lymphaden... OMIM:209950
Omenn Syndrome
Anemia, Erythroderma, Nephrotic syndrome, Thyroiditis, Autoimmunity, Lymphadenopathy, Hepatomegal... ORPHA:39041
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Immunodeficiency 48
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis, P... OMIM:269840
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... OMIM:300635
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... OMIM:617609
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pruritu... ORPHA:79147
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... OMIM:617514
Immunodeficiency 50
Decreased circulating antibody level, Recurrent urinary tract infections, Eczema, Lymphopenia, Ne... OMIM:300988
Sézary Syndrome
Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Erythroderma, Pruritus, Splenomegal... ORPHA:3162
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Autoimmunity... OMIM:614470
Immunodeficiency 15A
Acne inversa, Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneo... OMIM:618204
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... OMIM:615513
Cholestasis, Progressive Familial Intrahepatic, 12
Pruritus, Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... OMIM:614420
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Lymphadenopathy, Elevated c... ORPHA:85414
Nephrotic Syndrome, Type 7
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... OMIM:615008
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneumonia, Dec... ORPHA:276
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... ORPHA:100024
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, Erythroderma, Decreased circulating total IgM,... OMIM:619510
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity, Inflammatory abnormality of the skin ORPHA:90159
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Autoinflammation With Episodic Fever And Lymphadenopathy
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... OMIM:618852
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:613944
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria OMIM:161900
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Heme Oxygenase 1 Deficiency
Asplenia, Increased circulating interleukin 6 concentration, Hemolytic anemia, Coombs-positive he... OMIM:614034
Pediatric Systemic Lupus Erythematosus
Lupus anticoagulant, Myositis, Abnormality of the urinary system, Thrombocytopenia, Antinuclear a... ORPHA:93552
Keratolytic Winter Erythema
Pustule ORPHA:50943
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:614131
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupus... OMIM:613779
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... OMIM:137950
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... OMIM:601894
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA ... OMIM:608106
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome OMIM:614199
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Acquired Partial Lipodystrophy
Glomerulopathy, Lymphocytosis, Autoimmunity, Hepatic steatosis, Proteinuria, Microscopic hematuria ORPHA:79087
Proteasome-Associated Autoinflammatory Syndrome 2
Antinuclear antibody positivity, Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positi... OMIM:618048
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly, Hepatomegaly OMIM:619175
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:617783
Insulin Autoimmune Syndrome
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... ORPHA:411593
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... OMIM:619201
Omenn Syndrome
Anemia, Hypoplasia of the thymus, Erythroderma, B lymphocytopenia, Severe B lymphocytopenia, Lymp... OMIM:603554
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... OMIM:614699
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis OMIM:613148
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Glomerulopathy, Pruritus, Episcleritis, Skin rash, Inflammatory abnormality of th... ORPHA:36412
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Chilblains, Membranoproliferative glomerulonephritis, Pancytopenia, Hepatosplen... OMIM:619858
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis OMIM:613652
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,... OMIM:613011
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Pancytopeni... OMIM:618394
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Anemia, Arthritis, Autoimmunity, Hematuria, Proteinuria, Renal insufficiency ORPHA:375
Nephrotic Syndrome, Type 9
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... OMIM:615573
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... OMIM:619802
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash, Lymphadenopathy, Elevated ... OMIM:611762
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndrome, Hepatitis, Lymphocytos... ORPHA:139402
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Focal Segmental Glomerulosclerosis 10
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... OMIM:256020
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... OMIM:606843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent urinary tract infections, Ne... OMIM:613179
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Increased circulating ferritin conc... OMIM:603552
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Peeling Skin Syndrome 1
Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Immunodeficiency 69
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration... OMIM:618963
Trimethylaminuria
Anemia, Trimethylaminuria, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly OMIM:606445
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Seborrhe... OMIM:619693
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:600995
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hep... ORPHA:37748
Immunodeficiency 58
Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis, Decreased circulating... OMIM:618131
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Decreased circulating IgG level, Chronic oral candidiasis, B lymph... OMIM:301078
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... OMIM:608184
Netherton Syndrome
Aminoaciduria, Decreased circulating antibody level, Skin rash, Eczema, Ectopic kidney, Erythrode... ORPHA:634
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive, Elevated ... ORPHA:79099
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Blepharitis, Increased circulating IgE level, Erythroderma OMIM:614328
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule ORPHA:36237
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:614196
Immunodeficiency 102
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Recurrent skin infections, Decreased proportio... OMIM:301082
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria OMIM:161950
Nail-Patella-Like Renal Disease
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria ORPHA:2613
Nephrotic Syndrome, Type 17
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618176
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Eczema, L... OMIM:618935
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Erythroderma, Eczema, Elevated ci... OMIM:615895
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... OMIM:308230
Focal Segmental Glomerulosclerosis 1
Anemia, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Hypoalbu... OMIM:603278
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... ORPHA:84090
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Autoimmunity, Thrombocytopenia, Abnormality of th... ORPHA:275555
Isolated Agammaglobulinemia
Anemia, Skin rash, Inflammatory abnormality of the eye, Arthritis, Autoimmunity, Abnormality of t... ORPHA:229717
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Pruritus, Erythroderma ORPHA:79394
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing cholangitis, Diffuse hepatic ... ORPHA:2137
Indolent Systemic Mastocytosis
Skin rash, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly,... ORPHA:98848
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Sclerosing cholangitis, Decreased proportion of CD4-positive helper T cells, D... ORPHA:572
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... OMIM:616818
Immunodeficiency 42
Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis, Hypoplasia of the thymus, C... OMIM:616622
Majeed Syndrome
Glomerulopathy, Abnormal inflammatory response, Osteomyelitis, Inflammatory abnormality of the sk... ORPHA:77297
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Neutropenia, Fulminant hepatitis, Decreased circulating antibody level, ... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Autoimmunity, Recurrent otitis media, Autoimmune hem... OMIM:615387
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... OMIM:617241
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... ORPHA:48377
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... OMIM:603965
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... OMIM:618178
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616032
Ichthyosis Prematurity Syndrome
Pruritus, Erythroderma, Allergic rhinitis OMIM:608649
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... ORPHA:449395
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Abnormality of the kidney, Arthritis, Abnormal renal physiology, Pericarditis, System... OMIM:609939
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis OMIM:221700
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... OMIM:308990
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Thrombocytopenia, Proteinuria ORPHA:2134
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Peritonitis, Erysipelas, Proteinuria, Renal amyloidosis OMIM:134610
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Recurrent bacterial skin infections, Chronic oral ... ORPHA:911
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Autoimmune antibody positivity, Anti-dsDNA anti... ORPHA:90283
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... ORPHA:275
Pemphigus Foliaceus
Pruritus, Crusting erythematous dermatitis, Autoimmunity, Pustule, Erythroderma, Psoriasiform der... ORPHA:79481
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Eczema, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Dermatitis, Atopic
Conjunctivitis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopic dermatitis OMIM:603165
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Systemic Lupus Erythematosus
Leukopenia, Malar rash, Antiphospholipid antibody positivity, Hemolytic anemia, Arthritis, Nephri... OMIM:152700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Elevated circulating C-... OMIM:604416
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Prote... OMIM:608709
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Malar rash, Cytoplasmic antineutrophil antibody positivity, Skin rash, Increa... OMIM:615934
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... OMIM:618349
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Focal Segmental Glomerulosclerosis 5
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:613237
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Erythroderma, Pruritus, Lymphocytosis, Lymphadenopathy, Hepatomegaly, M... ORPHA:79456
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... OMIM:615285
Genetic Steroid-Resistant Nephrotic Syndrome
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... ORPHA:656
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Elastoderma
Eczema, Erysipelas ORPHA:228240
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Erythema nodosum, Agamm... OMIM:615214
Acquired Ichthyosis
Recurrent skin infections, Renal insufficiency, Autoimmunity, Pruritus ORPHA:454
Juvenile Arthritis
Skin rash, Antinuclear antibody positivity, Thrombocytosis, Leukocytosis OMIM:618795
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Eczem... OMIM:617780
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Inter... OMIM:615952
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Au... OMIM:616576
Netherton Syndrome
Hypereosinophilia, Allergic rhinitis, Erythroderma, Increased circulating IgE level, Decreased ci... OMIM:256500
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Hypoalbuminemia, Nephrotic syndrome OMIM:614652
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneu... OMIM:614700
Prolidase Deficiency
Anemia, Prolonged neonatal jaundice, Crusting erythematous dermatitis, Increased circulating anti... OMIM:170100
Drug-Induced Lupus Erythematosus
Malar rash, Anemia, Hematuria, Lupus anticoagulant, Elevated circulating creatine kinase concentr... ORPHA:231111
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Hematuria, Viral... ORPHA:91138
Tularemia
Conjunctivitis, Anemia, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflam... ORPHA:3392
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Autoimmunity, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosi... OMIM:618398
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... OMIM:610725
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Pruritus, Autoimmunity ORPHA:46488
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Increased circulating IgG level, Keratoconjunctivitis sicca, Punctate keratiti... OMIM:617388
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1... ORPHA:37042
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Autoimmunity... ORPHA:47
Q Fever
Lupus anticoagulant, Hepatosplenomegaly, Antimitochondrial antibody positivity, Pericarditis, Hep... ORPHA:781
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Bronchiectasis, Decreased circulating total IgM, Ulcerative c... OMIM:617638
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome OMIM:613913
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Congenital thrombocytopenia, Acute kidney injury, Increased circulating fe... OMIM:618886
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... OMIM:614455
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... OMIM:619374
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Diffuse Alveolar Hemorrhage
Anemia, Autoimmunity, Hematuria, Rheumatoid factor positive, Thrombocytopenia, Leukocytosis, Anti... ORPHA:90060
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Cytopl... ORPHA:449400
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Nephrotic syndrome, Abnormal... ORPHA:91139
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Psoriasiform dermatitis, Erythroderma OMIM:615508
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Decreased circulating IgA ... OMIM:215250
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly ORPHA:100025
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczema OMIM:254400
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... ORPHA:839
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Sup... ORPHA:284426
Felty Syndrome
Anemia, Rhinitis, Recurrent urinary tract infections, Arthritis, Synovitis, Autoimmunity, Pericar... ORPHA:47612
Legionnaires Disease
Endocarditis, Infectious encephalitis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia,... ORPHA:549
Harderoporphyria
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Increased c... OMIM:618892
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, S... OMIM:616050
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... ORPHA:64743
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, H... OMIM:226990
Biotinidase Deficiency
Conjunctivitis, Skin rash, Organic aciduria, Hepatomegaly, Recurrent skin infections, Splenomegal... OMIM:253260
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:612567
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Eosinophilia, Hepatomegaly, Pneumonia, Splenomegaly, Decreased... OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... OMIM:618282
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... OMIM:310468
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... ORPHA:567548
Thymic Tumor
Neoplasm of the thymus, Autoimmunity, Pericarditis, Mediastinal lymphadenopathy, Dysgammaglobulin... ORPHA:100100
Ichthyosis With Confetti
Pruritus, Erythroderma OMIM:609165
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria, Hepatomegaly ORPHA:882
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Pruritus, Renal tubular acidosis, Glycosuria, Jaundice, Nephropathy, Giant cell he... OMIM:613404
Classic Mycosis Fungoides
Skin rash, Eczema, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly, Abnormal lymphocyte mor... ORPHA:2584
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... OMIM:256550
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... ORPHA:169079
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... OMIM:619164
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Skin rash, Lymphopenia, Lupus anticoagulant, Colitis, Thrombocytopenia, Antinuc... OMIM:616744
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Pellagra-Like Syndrome
Skin rash OMIM:260650
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating total IgM, T lymphocytopenia, B lymphocytopenia, Lack of T cell function, D... ORPHA:35078
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma OMIM:602540
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... ORPHA:183675
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Increased circulating antibody level, Hypersplenism, Hematuria, Pa... ORPHA:77259
Iga Pemphigus
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... ORPHA:555905
Hyper-Igd Syndrome
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... OMIM:260920
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Tubulointerstitial nephritis, Abnormal lymph node morphology, Anemia, Rena... ORPHA:85450
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Hepatitis, Skin rash, Arthritis, Hematuria, Autoimmunity, Pancytop... ORPHA:1855
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Pruritus, Splenomegaly, Hepatomegaly ORPHA:86893
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, Perianal abscess OMIM:619437
Dent Disease 2
Aminoaciduria, Proximal tubulopathy, Elevated circulating creatine kinase concentration, Low-mole... OMIM:300555
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin level, Increas... ORPHA:48435
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Neutrophilia, Generalized lymphadenopathy, Pericarditis, Bone ma... ORPHA:829
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Decreased circulating an... OMIM:618108
Thymic Aplasia
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Recurrent urinary t... ORPHA:83471
Letterer-Siwe Disease
Anemia, Jaundice, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Seborrheic derma... OMIM:246400
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Int... OMIM:614377
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mal De Meleda
Superficial dermal perivascular inflammatory infiltrate, Inflammatory abnormality of the skin ORPHA:87503
Mixed-Type Autoimmune Hemolytic Anemia
Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary color, Systemic lupus eryt... ORPHA:90036
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Anemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segme... OMIM:613092
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Cytopl... ORPHA:93126
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Pruritus, Splenomegaly, Hypoalbuminemia OMIM:619868
Lamellar Ichthyosis
Renal insufficiency, Pruritus, Chronic otitis media, Erythroderma ORPHA:313
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circul... OMIM:615758
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Chilblains, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615010
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... ORPHA:507
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hemolytic anemia, Proteinuria, Normochromic anemia OMIM:245900
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Bronchiectasis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Cirrhosis, Decreased circulating ceruloplasmin concentration, Erythroderma, Hypoa... OMIM:242150
Vexas Syndrome
Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the skin, Autoimmun... OMIM:301054
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly OMIM:607685
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Anemia, Neutropenia, Stage 5 chronic kidney disease, Minimal change ... ORPHA:1830
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Decreased proportion of class-switched memo... OMIM:617765
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... OMIM:150550
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... OMIM:615244
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Abnormally low T cell receptor excision circle level... OMIM:242700
Juvenile Idiopathic Arthritis
Skin rash, Arthritis, Autoimmunity, Uveitis, Mediastinal lymphadenopathy, Hepatomegaly, Psoriasif... ORPHA:92
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level, Eczema, Recurrent otitis media... ORPHA:353298
Brachydactylous Dwarfism, Mseleni Type
Hip osteoarthritis, Autoimmunity, Osteoarthritis of the elbow, Increased inflammatory response, K... ORPHA:2619
Malakoplakia
Pruritus, Inflammatory abnormality of the skin, Dysuria, Urinary urgency, Skin rash, Hematuria, U... ORPHA:556
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Boutonneuse Fever
Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Increased circulating IgM level, Cervic... ORPHA:83313
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity OMIM:612227
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Cutaneous abs... OMIM:619752
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Cinca Syndrome
Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating ... OMIM:607115
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Reticulocytosis, Thrombocytope... ORPHA:54057
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... ORPHA:443811
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Lcat Deficiency
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... ORPHA:650
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatic steatosis, Pericarditis, Hepatomegaly, Hepatic fibrosis, Stage 5 chro... OMIM:619487
Immunodeficiency 96
Multicystic kidney dysplasia, Decreased circulating total IgM, Increased proportion of gamma-delt... OMIM:619774
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Portal fibrosis... ORPHA:369
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:616730
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia ORPHA:482
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Myh9-Related Disease
Renal insufficiency, Nephritis, Nephropathy, Proteinuria, Giant platelets, Congenital thrombocyto... ORPHA:182050
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Skin rash, Arthritis, Hematuria, Auto... ORPHA:183
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... OMIM:301006
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... OMIM:243700
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, Skin rash, Autoimmunity, ... ORPHA:2298
Coenzyme Q10 Deficiency, Primary, 6
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... OMIM:614650
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Skin rash, Erythroid hyperplasia, Hepatosple... OMIM:609628
Imerslund-Grasbeck Syndrome 1
Proteinuria, Megaloblastic anemia, Microscopic hematuria OMIM:261100
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sc... ORPHA:562639
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Nephrotic syndrome, Enlarged kidney, Neph... OMIM:617303
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Classic Hodgkin Lymphoma
Skin rash, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Pruritus, Splenomegaly ORPHA:391
Pfapa Syndrome
Arthritis, Lymphadenopathy, Hepatomegaly, Infectious encephalitis, Splenomegaly ORPHA:42642
Glycogen Storage Disease X
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:261670
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Erysipelas, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly OMIM:214900
American Trypanosomiasis
Skin rash, Autoimmune antibody positivity, Lymphadenopathy, Hepatomegaly, Infectious encephalitis... ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ... OMIM:617591
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Recurrent skin infections, Hepatosplenomegaly, Leukocytos... OMIM:612840
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary... ORPHA:90033
Thymoma
Rheumatoid arthritis, Decreased circulating antibody level, Anti-acetylcholine receptor antibody ... ORPHA:99867
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... ORPHA:85410
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... OMIM:300908
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma, Hepatic cysts OMIM:617425
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Leukopenia, Non-caseating epithelioid c... ORPHA:227990
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Familial Mediterranean Fever
Nephrotic syndrome, Ascites, Skin rash, Pancreatitis, Arthritis, Erysipelas, Pericarditis, Nephro... ORPHA:342
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Hemochromatosis, Type 2A
Cirrhosis, Arthritis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly OMIM:602390
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... ORPHA:228302
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:617731
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Dent Disease
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... ORPHA:1652
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Eczema, Hepatosplenomegaly, Eosinophilia, Erythroderma, Cervical lym... ORPHA:3260
Neonatal Lupus Erythematosus
Malar rash, Anemia, Maculopapular exanthema, Abnormality of the liver, Neutropenia, Hemolytic ane... ORPHA:398124
Autoimmune Hemolytic Anemia
Hemolytic anemia, Autoimmunity, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Galloway-Mowat Syndrome 6
Proteinuria, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome OMIM:618347
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Autoimmunity, Panniculitis, Hepatomegaly, Splenomegaly ORPHA:33577
Pemphigus Erythematosus
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... ORPHA:79480
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Lupus anticoagulant, Hepatosplenomegaly, Recurrent sinusitis, Bone marrow hypocellularity... OMIM:615688
Glycogen Storage Disease Xi
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:612933
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Nephropathy, Proteinuria, Nephrotic syndrome ORPHA:1192
Pyoderma Gangrenosum
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... ORPHA:48104
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Lymphopenia... OMIM:617575
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... ORPHA:79301
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Neutropenia, Recurrent urinary tract infections, Biliary tract abnormal... OMIM:209920
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Thymoma, Biliary cirrhosis, Leukopenia, Non-caseating epithelioid c... ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circul... OMIM:616828
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... OMIM:256300
Systemic Sclerosis
Anti-centromere antibody positivity, Osteomyelitis, Pruritus, Acute kidney injury, Abnormality of... ORPHA:90291
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Panniculitis, Splenomegaly OMIM:619183
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Good Syndrome
Thymoma, Anemia, Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... ORPHA:169105
Muckle-Wells Syndrome
Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Nephrotic syndrome, Skin rash, Arthritis, ... ORPHA:575
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Increased circulating ferritin concentration, Hepatomegaly, ... OMIM:613313
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... OMIM:203780
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Harlequin Ichthyosis
Erythroderma ORPHA:457
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Skin rash, Arthritis, Keratoconjunctivitis sicca, Autoimmunity, Per... ORPHA:809
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Skin rash, Inflammation of the large intestine, Perinuclear antineutrophil antibod... OMIM:617718
Lysinuric Protein Intolerance
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Argininuria, ... ORPHA:470
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Elevated circulating creatine kinase concentration OMIM:232600
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Pruritus, Pruritus on foot, Skin rash, Jaundice, Autoimmunity, Palma... ORPHA:69665
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Galloway-Mowat Syndrome 7
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... OMIM:618348
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... OMIM:613388
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Hemoglobinuria, Normocytic anemia, Jaundice, Elevated circulat... OMIM:611881
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Deep dermal perivascular inflamm... ORPHA:49041
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... ORPHA:255249
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating antibody level,... ORPHA:1572
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Insulin receptor antibody positivity, Anti-thyroid peroxidase antibody positivity, Ant... ORPHA:228426
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Pachydermoperiostosis
Anemia, Osteomyelitis, Arthritis, Hepatomegaly, Eczematoid dermatitis, Splenomegaly, Seborrheic d... ORPHA:2796
Transketolase Deficiency
Conjunctivitis, Increased level of ribose in urine, Uveitis, Renal cyst, Hepatomegaly, Seborrheic... ORPHA:488618
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Pruritus, Splenomegaly OMIM:619658
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Galactosemia I
Aminoaciduria, Cirrhosis, Hemolytic anemia, Galactosuria, Increased level of galactitol in urine,... OMIM:230400
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... OMIM:233710
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Prote... OMIM:603585
Microscopic Polyangiitis
Glomerulopathy, Skin rash, Peritonitis, Arthritis, Autoimmunity, Hematuria, Uveitis, Pericarditis... ORPHA:727
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatocellular... ORPHA:158057
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Chronic otitis media, Hepatomegaly, Thrombocytop... ORPHA:169090
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Cirrhosis, Unilateral renal agenesis, Pancytopenia, Elevated circulating cr... OMIM:614576
Hereditary Orotic Aciduria
Aminoaciduria, Anemia, Oroticaciduria, Abnormality of the ureter, Impaired T cell function, Oroti... ORPHA:30
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:2364
Psoriasis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Malar rash, Oligoarthritis, Pruritus, Abnormality of tumor necrosis factor ... ORPHA:85436
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils... ORPHA:381
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocyto... ORPHA:2902
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, ... OMIM:617099
Refractory Celiac Disease
Inflammatory abnormality of the skin, Normocytic anemia, Abnormal spleen physiology, Autoimmune a... ORPHA:398063
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer cell activity, Skin rash, Jau... OMIM:603553
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Enterocolitis, Decreased circulating antibody level, Interface hepatiti... OMIM:243150
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... ORPHA:368
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:268200
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria OMIM:166300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Skin rash, Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia o... OMIM:612714
Glycogen Storage Disease Ib
Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Gout, Inflammation of the l... OMIM:232220
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Scrub Typhus
Renal insufficiency, Skin rash, Lymphadenopathy, Infectious encephalitis, Myocarditis, Splenomega...