Gene Summary

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

IMPC Data Collections

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.

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Legacy Phenotype Associated Images

View all 84 images

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
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin... OMIM:618495
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... ORPHA:90283
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati... OMIM:618534
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, B lymphocytopenia, Absent tonsils, Sin... ORPHA:277
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Systemic lupus erythe... ORPHA:90280
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Immunodeficiency, Common Variable, 2
Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l... OMIM:240500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Lymphadenopathy, Systemic lupus erythematosus, Hepatitis, Recurrent otitis media, S... ORPHA:444463
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Skin rash, P... OMIM:105200
Primary Membranoproliferative Glomerulonephritis
C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi... ORPHA:54370
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... ORPHA:169160
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... ORPHA:540
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte... ORPHA:169154
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Eosinophilia, Neutropenia, Erythrod... OMIM:304790
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Pityriasis Rubra Pilaris
Pruritus, Eczema, Erythroderma, Pustule ORPHA:2897
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... OMIM:300853
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Salmone... OMIM:209950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased circulating IgA level... OMIM:606367
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Ichthyosis With Confetti
Erythroderma OMIM:609165
Omenn Syndrome
Autoimmunity, Leukocytosis, Hepatomegaly, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno... ORPHA:39041
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Hematuria, Stage 5 chronic kidn... ORPHA:329918
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Decreased ci... OMIM:300635
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Arthritis, Acute kidney ... ORPHA:567544
Omenn Syndrome
Hypoproteinemia, B lymphocytopenia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Hypop... OMIM:603554
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... OMIM:617609
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Immunodeficiency 52
Bronchiectasis, Lymphadenopathy, Coombs-positive hemolytic anemia, Increased proportion of gamma-... OMIM:617514
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut... OMIM:618204
S├ęzary Syndrome
Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Pruritus, Abnormal ly... ORPHA:3162
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Hepatomegaly, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, S... OMIM:614470
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly, Anterior uveitis, Juveni... ORPHA:85414
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... ORPHA:276
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Microcytic anemia, Recur... OMIM:618852
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Nephrotic syndrome, Discoid lupus rash, Dark urine, Lymphopenia, Skin rash, Lupu... ORPHA:93552
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Keratolytic Winter Erythema
Pustule ORPHA:50943
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Thrombocytosis, Increased circulating interleukin 6, Asplenia, Ly... OMIM:614034
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria ORPHA:79087
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Insulin Autoimmune Syndrome
Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,... ORPHA:411593
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... OMIM:608106
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia... OMIM:602450
Macrophage Activation Syndrome
Autoimmunity, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Hemophagocytosis, L... ORPHA:158061
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis OMIM:613652
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Pruritus, Hematuria, Arthriti... ORPHA:36412
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... OMIM:618394
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Lymphoproliferative Syndrome 1
Autoimmunity, Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... OMIM:613011
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... OMIM:603552
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... OMIM:611762
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Immunodeficiency 69
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Pulmonary Nodular Lymphoid Hyperplasia, Familial
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... OMIM:178610
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Pruritus, Anemia, Arthritis, Splenomegaly, Increased... ORPHA:37748
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid factor positive, Rheumatoid arthritis,... ORPHA:79099
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... OMIM:613179
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... OMIM:606843
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Antinuclear antibody positivity, Lymphadenopathy, Rheumatoid factor... ORPHA:449395
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... OMIM:608184
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis... ORPHA:331206
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:600995
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... OMIM:618131
Netherton Syndrome
Hydronephrosis, Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating... ORPHA:634
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... OMIM:616576
Immunodeficiency 7
Lymphadenopathy, Autoimmunity, Hypereosinophilia OMIM:615387
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, ... ORPHA:98848
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Autoimmune Hepatitis
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Jaundice, Cirrhosis... ORPHA:2137
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sinusitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lym... ORPHA:229717
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Rheumatoid factor positive, Splenomeg... OMIM:618935
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Me... OMIM:617780
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... ORPHA:572
Immunodeficiency 36
Autoimmunity, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, S... OMIM:616005
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Increased circulating antibody lev... ORPHA:48377
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... ORPHA:84090
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Anemia, Stage 5 chronic kidney disease, Hypoalbuminemia, Prot... OMIM:603278
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Hepatomegaly, Eczema, Lymphadenopathy OMIM:615895
Inclusion Body Myositis
Elevated circulating creatine kinase concentration, Autoimmunity ORPHA:611
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Preeclampsia
Autoimmunity, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney disease... ORPHA:275555
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Erythroderma, Keratitis ORPHA:79394
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Increased circulating IgE level, Hypereosinophilia, De... OMIM:212050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral cand... ORPHA:275
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... ORPHA:77297
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis OMIM:221700
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Decreased circulating IgA level, Scleros... OMIM:308230
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... OMIM:615846
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis OMIM:134610
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Ichthyosis Prematurity Syndrome
Pruritus, Allergic rhinitis, Erythroderma OMIM:608649
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... OMIM:615934
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt... OMIM:615122
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... OMIM:617241
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Renal insufficiency, Nephrotic syndrome, Membranoproliferative glom... OMIM:613779
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Stomatitis, Lymphadenopathy, Lymphadenitis, Pneumonia, Decreased lymphocyte p... ORPHA:911
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Conjunctivitis OMIM:603165
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... OMIM:616871
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Pemphigus Foliaceus
Autoimmunity, Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous der... ORPHA:79481
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma... OMIM:152700
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Colitis, Acne, Arthritis, Hepatosplenomegaly, Mic... OMIM:604416
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Trichothiodystrophy 3, Photosensitive
Erythroderma OMIM:616395
Acquired Ichthyosis
Autoimmunity, Pruritus, Recurrent skin infections, Renal insufficiency ORPHA:454
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity, Skin rash OMIM:618795
Alopecia Areata 1
Autoimmunity OMIM:104000
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Cernunnos-Xlf Deficiency
Autoimmunity, B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Prolidase Deficiency
Hepatomegaly, Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous d... OMIM:170100
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Elastoderma
Eczema, Erysipelas ORPHA:228240
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Immunodeficiency 17
Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... OMIM:615607
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Drug-Induced Lupus Erythematosus
Pericarditis, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hematuria, An... ORPHA:231111
Linear Iga Dermatosis
Renal neoplasm, Autoimmunity, Inflammation of the large intestine, Pruritus ORPHA:46488
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... ORPHA:331235
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... OMIM:615952
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Erythroderma, Lymphadenopathy, Pruritus, Abnormality of ... ORPHA:79456
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutro... ORPHA:231154
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Sple... ORPHA:91138
Q Fever
Myocarditis, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomegaly, Hepatosplenome... ORPHA:781
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, ... ORPHA:47
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Netherton Syndrome
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... OMIM:256500
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Tu... ORPHA:37042
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Tularemia
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Pneumonia, Lymphadenopathy, Anemia, ... ORPHA:3392
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color ORPHA:56425
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, R... ORPHA:3261
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:608709
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormal renal physiology, Systemic lupus erythematosus, Arthritis, Malar rash, Ant... OMIM:609939
Igg4-Related Aortitis
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... ORPHA:449400
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Nephrotic syndrome, Monoclonal immunog... ORPHA:91139
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Diffuse Alveolar Hemorrhage
Autoimmunity, Leukocytosis, Antineutrophil antibody positivity, Hematuria, Anemia, Rheumatoid fac... ORPHA:90060
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Incre... OMIM:618892
Thymic Tumor
Autoimmunity, Pericarditis, Mediastinal lymphadenopathy, Neoplasm of the thymus, Dysgammaglobulin... ORPHA:100100
Gamma-Heavy Chain Disease
Autoimmunity, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:100026
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Increased circulating ferritin concentration, ... OMIM:618886
Immunodeficiency 31C
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Rheumatoid factor... OMIM:619632
Felty Syndrome
Sinusitis, Autoimmunity, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lympha... ORPHA:47612
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma OMIM:615508
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, De... OMIM:215250
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, Hematuria, Hep... ORPHA:549
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Classic Mycosis Fungoides
Hepatomegaly, Eczema, Lymphadenopathy, Pruritus, Abnormal lymphocyte morphology, Splenomegaly, Sk... ORPHA:2584
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Colitis, Anterior uveitis, Lymphopenia, Skin rash, Lupus anticoagulant, Hemolyt... OMIM:616744
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ... ORPHA:183675
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Reduced natural killer cell activity, Anemia, Splenomegaly, Increased circulating ... OMIM:616050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Anticardiolipin IgM antibody positivity, Leukopenia, Pruritus,... ORPHA:64743
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly... OMIM:619164
Porphyria Cutanea Tarda, Type I
Eczema, Porphyrinuria, Hepatic fibrosis OMIM:176090
Spondyloenchondrodysplasia
Autoimmunity, Pancytopenia, Pneumonia, Hematuria, Systemic lupus erythematosus, Hepatitis, Arthri... ORPHA:1855
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... OMIM:260920
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Low-m... OMIM:300555
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... ORPHA:839
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... ORPHA:35078
Iga Pemphigus
Pustule, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of the skin, Autoim... ORPHA:555905
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly ORPHA:86893
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Pellagra-Like Syndrome
Skin rash OMIM:260650
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialy... OMIM:256550
Gaucher Disease Type 1
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Osteoarthritis, Anemia, ... ORPHA:77259
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Skin rash, Abnormal urinary color, Autoimmune hemolyt... ORPHA:90036
Biotinidase Deficiency
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Recurrent skin infections, Skin rash, Organic ... OMIM:253260
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadeno... ORPHA:85450
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Increased circulating Ig... ORPHA:48435
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Decreased circulating antibody level, Anemia, Skin rash, Aplasi... ORPHA:33355
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Pruritus, Hepatitis, Bone marrow hypocellu... ORPHA:829
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Immunodeficiency 32B
Sinusitis, Bronchiectasis, Pneumonia, Splenomegaly OMIM:226990
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... OMIM:242700
Thymic Aplasia
Sinusitis, Autoimmunity, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia,... ORPHA:83471
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... ORPHA:507
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Antinuclear antibody positivity, Decreased g... ORPHA:93126
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Letterer-Siwe Disease
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jau... OMIM:246400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Lamellar Ichthyosis
Chronic otitis media, Pruritus, Erythroderma, Renal insufficiency ORPHA:313
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Pruritus, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Proteinuria, Renal insufficiency OMIM:245900
Juvenile Idiopathic Arthritis
Autoimmunity, Hepatomegaly, Psoriasiform dermatitis, Mediastinal lymphadenopathy, Arthritis, Sple... ORPHA:92
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Autoimmunity OMIM:612227
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... ORPHA:2442
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop... OMIM:607115
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ma... ORPHA:83313
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary urgency, Urinary hesi... ORPHA:556
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Focal segmental glomerulosclerosis, Decreased proportion of naive CD8 T cells, Neut... ORPHA:1830
Pgm3-Cdg
Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... ORPHA:443811
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis OMIM:242150
Aicardi-Goutieres Syndrome 9
Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension, Hemolytic anemia, Perica... OMIM:619487
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... OMIM:150550
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Myoglobinuria, Autosomal Dominant
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria OMIM:160010
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Majeed Syndrome
Inflammatory abnormality of the skin, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, M... OMIM:609628
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Lcat Deficiency
Hemolytic anemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kid... ORPHA:650
Insulin-Resistance Syndrome Type B
Autoimmunity, Leukopenia, Pneumonia, Increased circulating IgA level, Enlarged ovaries, Osteoarth... ORPHA:2298
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine OMIM:232600
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... OMIM:617303
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Poikiloderma With Neutropenia
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... OMIM:604173
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Autoimmunity, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hemat... ORPHA:183
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Erysipelas, Jaundice OMIM:214900
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Splenomegaly ORPHA:42642
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly ORPHA:98293
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Rheumatoid arthritis, Uveitis, Abnormal serum ... ORPHA:85410
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Chronic lymphatic leukemia, Systemic lupus erythematosus, Splenomegaly, Jaundice, A... ORPHA:90033
American Trypanosomiasis
Myocarditis, Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Autoimmune ant... ORPHA:3386
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Anti-acetylchol... ORPHA:99867
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Pruritus, Bone marrow hypocellularity, Splenomegaly, Skin rash ORPHA:391
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Th... OMIM:618116
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... OMIM:617591
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Hepatic cysts, Decreased circulating antibody level, Lymphopenia, Eosinophilia OMIM:617425
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Tubulointerstitial nephritis, Leukop... ORPHA:227990
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Heinz b... OMIM:300908
Glycogen Storage Disease X
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:261670
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Hemochromatosis, Type 2A
Hepatomegaly, Arthritis, Splenomegaly, Cirrhosis, Increased circulating ferritin concentration OMIM:602390
Autoimmune Hemolytic Anemia
Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology ORPHA:98375
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:618347
Familial Mediterranean Fever
Pericarditis, Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Ascites, Peritonitis, Osteoa... ORPHA:342
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:225
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... ORPHA:85445
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, ... OMIM:615688
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Autoimmune antibody po... ORPHA:398124
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Autoimmunity ORPHA:163703
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Infectious encephalitis, Colitis, Cutaneous anergy,... OMIM:209920
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Abnormal ab... OMIM:243150
Pemphigus Erythematosus
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... ORPHA:79480
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Portal fibrosis, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Inflammator... ORPHA:3260
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Bullous Pemphigoid
Autoimmunity, Eczema, Psoriasiform dermatitis ORPHA:703
Imerslund-Grasbeck Syndrome 1
Proteinuria, Megaloblastic anemia OMIM:261100
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Pruritus, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary trac... ORPHA:79301
Nodular Non-Suppurative Panniculitis
Autoimmunity, Hepatomegaly, Panniculitis, Splenomegaly, Inflammatory abnormality of the eye ORPHA:33577
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Aminoaciduria, Hepa... OMIM:277900
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased circulating cerulopla... OMIM:616828
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Congenital nephrotic syndrome, Glomerular sclerosis, Hypo... OMIM:256300
Good Syndrome
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... ORPHA:169105
Glycogen Storage Disease Xi
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency OMIM:612933
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Mixed Connective Tissue Disease
Myocarditis, Autoimmunity, Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy,... ORPHA:809
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia ORPHA:98827
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Increased circulating ferritin c... OMIM:613313
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Autoimmunity, Macrocytic anemia, Tubulointerstitial nephritis, Leukop... ORPHA:227982
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating creatine kinase concentration, ... ORPHA:228302
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:1192
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Anti-glutamic acid decarboxylase antib... ORPHA:228426
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema OMIM:617443
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Systemic Sclerosis
Myocarditis, Pericarditis, Elevated circulating creatine kinase concentration, Antinuclear antibo... ORPHA:90291
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Albuminuria, Gala... OMIM:230400
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Transketolase Deficiency
Hepatomegaly, Seborrheic dermatitis, Renal cyst, Uveitis, Increased level of ribose in urine, Con... ORPHA:488618
Muckle-Wells Syndrome
Hepatomegaly, Episcleritis, Nephrotic syndrome, Anemia, Arthritis, Splenomegaly, Uveitis, Skin ra... ORPHA:575
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... OMIM:618348
Harlequin Ichthyosis
Erythroderma ORPHA:457
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Glycogen Storage Disease, Type Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media, Decreased circulating antibody ... ORPHA:1572
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... ORPHA:49041
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... OMIM:617575
Galloway-Mowat Syndrome 5
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Hepatomegaly, Pneumonia, Lymphadenopathy, Chronic otitis media, Splenomegaly, Throm... ORPHA:169090
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Pruritus, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Microscopic Polyangiitis
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Hematuria, Pancreatitis, Arthri... ORPHA:727
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:399180
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Hemophagocytosis, Neutropenia, Hepatocellular carcinoma, Abnormal r... ORPHA:158057
Myasthenia Gravis
Anti-acetylcholine receptor antibody positivity, Myositis, Systemic lupus erythematosus, Hepatiti... ORPHA:589
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:233710
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia... ORPHA:2902
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Pachydermoperiostosis
Hepatomegaly, Eczematoid dermatitis, Seborrheic dermatitis, Anemia, Arthritis, Acne, Osteomyeliti... ORPHA:2796
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Lacticaciduria, Glycosuria, Aminoaciduria, Proteinuria, Renal insuffic... OMIM:134600
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone ma... ORPHA:381
Refractory Celiac Disease
Inflammatory abnormality of the skin, Hypoproteinemia, Macrocytic anemia, Normocytic anemia, Iron... ORPHA:398063
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency ORPHA:2364
Dermatitis Herpetiformis
Autoimmunity, Eczema, Microcytic anemia, Pruritus ORPHA:1656
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Increa... ORPHA:766
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Impaired T cell function, Anemia, Orotic acid crystall... ORPHA:30
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Pancytopenia, Impaired T cell function, Elevat... OMIM:614576
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Scrub Typhus
Myocarditis, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Anterior uveitis, Skin rash,... ORPHA:83317
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Psoriasis-Related Juvenile Idiopathic Arthritis
Autoimmunity, Psoriasiform dermatitis, Oligoarthritis, Pruritus, Sacroiliac arthritis, Anterior u... ORPHA:85436
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria OMIM:616026
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Anemia ORPHA:2668
Granulomatosis With Polyangiitis
Sinusitis, Autoimmunity, Hydronephrosis, Pericarditis, Prostatitis, Chronic otitis media, Hematur... ORPHA:900
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Cheilitis, Lymphadenopathy, Inflammatory abnormality of the skin ORPHA:2483
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Eczematoid dermatitis, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome...