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Gene: Trim58 MGI:2684862

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Gene Summary

Name:
tripartite motif-containing 58
Synonyms:
LOC216781,  LOC386443

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Trim58em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Trim58em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Trim58em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Trim58em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Trim58em1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular volume Trim58em1(IMPC)Mbp HOM Early adult 1.22×10-07

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Viewing: all phenotypes

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 Whole Body Dorso Ventral

108 Images

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X-ray

XRay Images Whole Body Lateral Orientation

52 Images

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Human diseases caused by Trim58 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 Trim58 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... OMIM:619079
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen... OMIM:619902
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, H... OMIM:185000
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... OMIM:617638
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean... OMIM:616860
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Reticulocytosis, Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis... OMIM:611590
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased ... OMIM:615234
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hematuria, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Ery... OMIM:617021
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Kerion Celsi
Lymphadenopathy ORPHA:499
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytop... OMIM:613839
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... OMIM:300635
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... OMIM:613960
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus... ORPHA:2169
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... ORPHA:26790
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Castleman Disease
Hematuria, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Ureteral obstruction, Thrombocyt... ORPHA:160
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Celiac disease, Achalasia, Colitis OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... OMIM:619281
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Sterile arthritis, Cystic acne, Acne, Colitis OMIM:604416
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Horseshoe kidney, Ne... OMIM:612562
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Bronchiect... OMIM:618108
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia OMIM:613101
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Anemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bo... OMIM:617303
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria OMIM:277410
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ... OMIM:613092
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Proteinuria, Coombs-positive hemol... OMIM:614034
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp... OMIM:618534
Immunodeficiency 27A
Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis OMIM:618394
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Asplenia OMIM:615415
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Iron deficiency anemia, Neutropenia i... OMIM:603909
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop... ORPHA:319487
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l... ORPHA:124
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... OMIM:127550
Beta-Thalassemia Intermedia
Hepatomegaly, Proximal tubulopathy, Anemia of inadequate production, Leukocytosis, Persistence of... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... ORPHA:300298
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone marrow hypocellularit... ORPHA:86839
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic s... ORPHA:54251
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Cardiomegaly ORPHA:858
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, ... OMIM:602450
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Asplenia, Ureteral atresia, Splenomeg... OMIM:208540
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... ORPHA:811
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Histiocytosis, Hepatosplenomegaly, M... ORPHA:168569
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Enterocolitis OMIM:614878
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis OMIM:614602
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Membranoprolifera... ORPHA:251004
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Rhabdoid Tumor
Renal neoplasm, Anemia, Hematuria, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232220
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni... OMIM:613011
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Intestinal atresia, Bloody diarrhea, Intestinal malrotatio... OMIM:243150
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Poikilocytosis... ORPHA:824
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties OMIM:616809
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Anemia, Glomerular scl... OMIM:276700
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Skin rash, Enterocolitis, Secretory diarrhea, Feeding difficulties in infancy,... OMIM:616050
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node morphology, Decreased glom... ORPHA:85450
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Lymphadenopathy, Renal interstitial ... ORPHA:449395
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Abdominal pain, Ar... OMIM:301074
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Malabsorption, ... OMIM:209920
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Polysplenia, Cystic renal dysplasia OMIM:200995
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Hemophagocytosis, Nephrotic syndrome, N... OMIM:619644
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly ORPHA:2584
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Villous atrophy, Chronic diarrhea, Thyroiditis, Colitis, Arthr... OMIM:614700
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis,... ORPHA:436159
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Chr... OMIM:618131
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ... OMIM:301078
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Griscelli Syndrome Type 2
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Beta-Thalassemia Major
Anisopoikilocytosis, Hepatomegaly, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... ORPHA:231214
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Recurrent urinary tract infections, ... OMIM:613179
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocyt... ORPHA:457077
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr... ORPHA:3392
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenomegaly, Pro... ORPHA:505248
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Lymphocytosis, Ab... OMIM:308240
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatosplenomegal... OMIM:615122
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Nephrotic syndrome, Hepatosplenomegaly, Sp... OMIM:618935
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr... OMIM:619802
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv... ORPHA:514
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly OMIM:609981
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Nephroblastoma
Nephroblastoma, Hematuria, Lymphadenopathy ORPHA:654
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Abdominal pain, Fulminant h... ORPHA:2137
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Shigellosis
Anorexia, Myocarditis, Acute colitis, Abdominal pain, Arthritis, Intestinal perforation, Bloody d... ORPHA:810
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Psoriasiform dermatitis, Dependency on intravenous nutrition, Thyr... ORPHA:37042
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells... ORPHA:276
Desmoplastic Small Round Cell Tumor
Anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, He... ORPHA:98850
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A... OMIM:612783
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocyt... OMIM:618278
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Otitis media, Peritoni... ORPHA:2686
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Gastrointestina... ORPHA:67
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Skin rash, Palmoplantar pustulosis, Poor appetite, Inflammation of the large intestine... ORPHA:324964
Niemann-Pick Disease, Type A
Hepatomegaly, Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Micr... OMIM:257200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... ORPHA:793
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Anemia, Tubulointerstitial fibrosis, Chronic neutropenia, Nephroli... ORPHA:79259
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Griscelli Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Thrombocyto... ORPHA:381
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo... ORPHA:47612
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Abnormal natural killer cell count, Thro... ORPHA:158061
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly OMIM:252500
Hermansky-Pudlak Syndrome 1
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine OMIM:203300
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Nephrotic syndrome, Nephritis, Leu... ORPHA:93552
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly ORPHA:3162
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Acute Promyelocytic Leukemia
Hematuria, Lymphadenopathy, Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu... ORPHA:520
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Papa Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... ORPHA:90038
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Acute myeloid leukemia, Ch... ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis OMIM:301108
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Asplenia, Renal agenesis, Cardiomegaly, Horseshoe kidney, Polysplenia OMIM:306955
Scrub Typhus
Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab... ORPHA:2035
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Maculopapular exanthe... ORPHA:540
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ... ORPHA:500095
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Splenomegaly, Proteinuria, Renal insuff... ORPHA:36412
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... ORPHA:79328
Iga Pemphigus
Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count... ORPHA:79124
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Anorexia, Intractable diarrhea, A... OMIM:619381
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis ORPHA:99812
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, K... ORPHA:309031
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Chediak-Higashi Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutr... OMIM:214500
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio... ORPHA:97289
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Renal insufficiency, Tubulointe... ORPHA:139402
Legionnaires Disease
Hematuria, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Proteinuria, Lymphopenia, ... ORPHA:549
Ogden Syndrome
Enlarged kidney, Iron deficiency anemia, Polycystic kidney dysplasia, Global glomerulosclerosis, ... OMIM:300855
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Leukopenia, Hepatosplenome... OMIM:603553
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy... ORPHA:809
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia OMIM:267700
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Lymphadenitis, Leukocytosis, Spleno... OMIM:615895
Hyperlipoproteinemia, Type Id
Colitis, Pancreatitis, Recurrent pancreatitis OMIM:615947
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia... OMIM:617718
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal ce... OMIM:308230
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neutropenia ORPHA:293173
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Abnormality of the anus, Esophagitis, Inflammation of the large intesti... ORPHA:2908
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl... ORPHA:29073
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Esophageal varix, Inflammation of the large intestine OMIM:614576
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular v... ORPHA:97214
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam... ORPHA:29207
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Micropenis OMIM:618280
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney OMIM:615873
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Neuroblastoma
Elevated urinary catecholamine level, Anemia, Elevated urinary vanillylmandelic acid, Lymphadenop... ORPHA:635
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal... ORPHA:33226
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... ORPHA:544482
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries ORPHA:508
Agammaglobulinemia, X-Linked
Anemia, Recurrent urinary tract infections, B lymphocytopenia, T lymphocytopenia, Lymph node hypo... OMIM:300755
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Eczemato... ORPHA:391487
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Plague
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... ORPHA:707
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233690
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Autoimmun... ORPHA:3261
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Pancreatitis, Cholangitis, Chronic diarrhea, Abdominal pain, Arthritis, Ecz... ORPHA:3260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ... OMIM:618213
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Sweet Syndrome
Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i... ORPHA:3243
Thymoma
Myositis, Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Ulcerative colitis, Glome... ORPHA:99867
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Kikuchi-Fujimoto Disease
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Lymphocytosis, Leukopenia,... ORPHA:50918
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Lymphadenopathy, Increased proportion of CD4-positive T cells OMIM:617099
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ... OMIM:619708
Proteus Syndrome
Enlarged kidney, Long penis, Neoplasm of the thymus, Renal cyst, Enlarged polycystic ovaries, Lym... ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ... ORPHA:90068
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Renal artery aneurysm, Leukocytosis, Bone ma... OMIM:615688
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:2905
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatosplenomegaly, Thr... ORPHA:31150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Inflammation of the large intestine, Interface hepatitis, Ulcerative coli... ORPHA:562639
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Bloody diarrhea, Hepatoblastoma, Dependency on ... ORPHA:84064
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym... ORPHA:83471
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Multiple renal c... ORPHA:538
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Congenital Syphilis
Anemia, Lymphadenopathy, Nephrotic syndrome, Hepatosplenomegaly, Thrombocytopenia, Extramedullary... ORPHA:499009
Primary Sclerosing Cholangitis
Pancreatitis, Neoplasm of the gallbladder, Abnormal large intestine physiology, Abdominal pain, T... ORPHA:171
Q Fever
Hepatomegaly, Hematuria, Lymphadenopathy, Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia ORPHA:781
Carney Triad
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc... OMIM:607944
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Histiocytosis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Mic... OMIM:602782
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Chronic diarrhea, Arthritis, Eczematoid dermatitis, Sinusitis,... ORPHA:906
Chédiak-Higashi Syndrome
Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Abnormal natural killer cell morphology,... ORPHA:167
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin... ORPHA:556
Farber Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:306400
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Hennekam Syndrome
Ectopic kidney, Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphope... ORPHA:2136
Wiskott-Aldrich Syndrome
Hematemesis, Recurrent otitis media, Melena, Diarrhea, Chronic diarrhea, Eczematoid dermatitis, I... OMIM:301000
Familial Mediterranean Fever
Lymphadenopathy, Leukocytosis, Nephrotic syndrome, Nephrocalcinosis, Splenomegaly, Proteinuria, N... ORPHA:342
Ileal Neuroendocrine Tumor
Hydronephrosis, Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hilar lymph node enlargement, Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis OMIM:620233
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ... OMIM:232240
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis ORPHA:39812
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Abdominal pain, Arthritis, Parotitis, Atopic dermatitis, Epididymitis, Conjunctivitis, ... OMIM:620376
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia OMIM:619418
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Hemolytic anemia, ... ORPHA:536
Fumarase Deficiency
Necrotizing enterocolitis, High palate, Hepatic failure OMIM:606812
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Necrotizing enterocolitis, Cleft palate, Secretory diarrhea, Feeding difficultie... OMIM:619573
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Sarcoidosis
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hypercalciuria, Nephrolith... ORPHA:797
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Ulcerative col... OMIM:617137
Brucellosis
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Intrarenal abscess, Leukopenia, Splenomegaly... ORPHA:1304
Primary Sjögren Syndrome
Abnormality of the kidney, Normocytic anemia, Lymphadenopathy, Normochromic anemia, Decreased pro... ORPHA:289390
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy ORPHA:100075
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Nephrotic syndrome, Thrombocytopenia, Splenomegaly, Generaliz... OMIM:615846
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormality of the kidney, Renal insufficiency, Lymphadenopathy ORPHA:449432
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Coccidioidomycosis
Abnormality of the kidney, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the bladd... ORPHA:228123
Sarcoidosis, Susceptibility To, 1
Anorexia, Abnormal salivary gland morphology, Arthritis, Inflammation of the large intestine, Iri... OMIM:181000
Blau Syndrome
Anemia, Lymphadenopathy, Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney di... ORPHA:90340
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly ORPHA:667
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:32960
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99413
Turner Syndrome
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:881
Mosaic Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99226
Marburg Hemorrhagic Fever
Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Reticuloc... ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Hematuria, Lymphadenopathy, Pancytopenia, Leukocytosis, Neutrophilia, Leukopenia, S... ORPHA:99827
Behçet Disease
Lymphadenopathy, Glomerulopathy, Renal insufficiency, Splenomegaly ORPHA:117
Bardet-Biedl Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, High palate, Inflammation of th... ORPHA:110
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Lymphadenopathy, Tubulointerstitial nephritis ORPHA:79078
Leptospirosis
Acute kidney injury, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocytopenia ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia OMIM:256040
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormality of the kidney, Lymphadenopathy ORPHA:449563
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Mowat-Wilson Syndrome
Aganglionic megacolon, Recurrent otitis media, Cleft hard palate, Bowel incontinence, Vomiting, S... ORPHA:2152
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Decreased eosinophil count, Neoplasm of the thymus, Leukocytosis,... ORPHA:99889
African Trypanosomiasis
Urinary incontinence, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Renal insu... ORPHA:3385

Histopathology

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

There is no histopathology data for Trim58

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trim58.

No publications found that use IMPC mice or data for Trim58.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Trim58tm102542(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Trim58em1(IMPC)Mbp Intra-exon deletion Mice, Tissue

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