Gene Summary

Name:
zinc finger protein 503
Synonyms:
Nolz1,  Zpo2,  B830002A16Rik,  Nolz-1,  ZNF503

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.

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Zfp503em1(IMPC)Mbp HOM E15.5 0.00
abnormal embryo size Zfp503em1(IMPC)Mbp HOM E15.5 0.00
abnormal male genitalia morphology Zfp503em1(IMPC)Mbp HET   Early adult 4.25×10-07
abnormal kidney morphology Zfp503em1(IMPC)Mbp HET Early adult 0.00
edema Zfp503em1(IMPC)Mbp HET E15.5 0.00
microcephaly Zfp503em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Zfp503em1(IMPC)Mbp HOM   Early adult 0.00
abnormal lymph node morphology Zfp503em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Zfp503em1(IMPC)Mbp HET Early adult 0.00
edema Zfp503em1(IMPC)Mbp HOM E15.5 0.00
enlarged kidney Zfp503em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Zfp503em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Zfp503 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 Zfp503 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Lymphatic Malformation 2
Lymphedema OMIM:611944
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Angioedema, Hereditary, 5
Edema of the dorsum of hands, Facial edema, Angioedema OMIM:619361
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia, Intrauterine growth retardation, Microcephaly OMIM:616570
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Angioedema, Hereditary, 8
Edema of the dorsum of hands, Laryngeal edema, Facial edema, Angioedema OMIM:619367
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Intrauterine growth retardation, Cerebral cortical atrophy ORPHA:291
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Chilblain Lupus 2
Edema OMIM:614415
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation, Microcephaly ORPHA:293
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Granulomatous Slack Skin
Acute kidney injury, Abnormality of the lymph nodes, Nephrocalcinosis ORPHA:33111
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia, Microcephaly OMIM:613885
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Kerion Celsi
Lymphadenopathy ORPHA:499
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:608971
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Recurrent urinary tract infections, Splenomegaly OMIM:618495
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Microphthalmia, Anophthalmia, Hypoplasia of the corpus callosum, Agene... OMIM:164180
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Lymphatic Malformation 3
Lymphedema OMIM:613480
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Asplenia, Enlarged kidney OMIM:615415
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
White Sponge Nevus 2
Edema OMIM:615785
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal oncocytoma, Renal cortical adenoma, Abnormality of the lymph nodes, Chronic noninfectious l... ORPHA:97290
Mast Cell Sarcoma
Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Recurrent tonsillitis, Splenomegaly OMIM:618852
Mu-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Nephropathy ORPHA:100024
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Genital ulcers, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Solitary Median Maxillary Central Incisor
Microphthalmia, Short stature, Anophthalmia, Anterior hypopituitarism, Decreased response to grow... OMIM:147250
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Hydrolethalus
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Absent septum pellucidum, Polyhydramn... ORPHA:2189
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Occipital cortical atrophy ORPHA:411986
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Lymphatic Malformation 10
Lymphedema OMIM:619369
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Abnormality of the lymphatic system, Nephroblastoma, Hydrocele testis... ORPHA:276280
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly OMIM:615895
Trisomy 13
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Hy... ORPHA:3378
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Alpha-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Premature ovarian insufficiency, Splenomegaly ORPHA:100025
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Asplenia, Polysplenia, Renal dysplasia, Polycystic kidney dysplasia, Ureteral atres... OMIM:208540
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Inferior vermis hypoplasia, Agenesis of corpus callosum, Microcephaly ORPHA:139471
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormality of the lymph n... ORPHA:319487
Microphthalmia, Syndromic 3
Microphthalmia, Short stature, Hypothalamic hamartoma, Anophthalmia, Optic nerve hypoplasia, Ante... OMIM:206900
Walker-Warburg Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Microphthalmia, Anophthalmia, Absent septu... ORPHA:899
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Kaposiform Lymphangiomatosis
Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphatic system, Splenome... ORPHA:464329
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema OMIM:617300
Endocrine-Cerebroosteodysplasia
Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Hyperechogenic kidneys, Cryptorchidis... OMIM:612651
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Macrocephaly, Microphthalmia OMIM:615877
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
H Syndrome
Azoospermia, Lymphadenopathy, Hypogonadism, Micropenis, Hepatosplenomegaly, Decreased testicular ... ORPHA:168569
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Mediastinal lymphadenopathy, Nephrotic syndrome, Lymphadenopathy, Membranous nephro... OMIM:615559
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Oligospermia, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Microphthalmia, Syndromic 5
Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary OMIM:610125
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes ORPHA:543
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia, Intrauterine growth retardation ORPHA:2470
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Abnormality of the lymphatic system, Abnormality of the kidney, Abnor... ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Cockayne Syndrome Type 2
Subcortical white matter calcifications, Anophthalmia, Intrauterine growth retardation ORPHA:90322
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Microphthalmia, Agenesis of corpus callosum ORPHA:77298
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... OMIM:608836
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Microphthalmia With Limb Anomalies
Anophthalmia, Postnatal growth retardation, Microphthalmia, Growth delay OMIM:206920
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Edema, Polyhydramnios, Facial edema, Lymphedema OMIM:618154
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... OMIM:276700
Trisomy 1Q
Anophthalmia, Polyhydramnios, Increased nuchal translucency, Macrocephaly, Cerebellar hypoplasia,... ORPHA:261344
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Gonadoblastoma, Car... OMIM:130650
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Immunodeficiency 72 With Autoinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Polysplenia, Enlarged kidney OMIM:200995
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Abnormal urinary color, Splenomegaly ORPHA:56425
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Glomerulonephritis, Splenomegaly OMIM:619375
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:603552
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Vacterl With Hydrocephalus
Arrhinencephaly, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Polyhydramnios, S... ORPHA:3412
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney ORPHA:251004
Heme Oxygenase 1 Deficiency
Hepatomegaly, Asplenia, Lymphadenopathy, Hematuria, Nephritis, Cervical lymphadenopathy, Proteinuria OMIM:614034
Nephroblastoma
Lymphadenopathy, Hematuria, Nephroblastoma ORPHA:654
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Bicornuate uterus, Septate vagina, Blind vagina, Male pseudoh... OMIM:608978
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Hematuri... ORPHA:2035
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:613101
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Immunodeficiency 64
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... OMIM:618534
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232220
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Schnitzler Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:37748
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Immunodeficiency 27A
Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, Splenomegaly OMIM:209950
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenomegaly, Urinary g... ORPHA:505248
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Testicular neoplasm ORPHA:83469
Congenital Toxoplasmosis
Lymphadenopathy, Hepatomegaly, Cardiomegaly ORPHA:858
Indolent Systemic Mastocytosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98848
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Rhabdoid Tumor
Lymphadenopathy, Renal neoplasm, Hematuria ORPHA:69077
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:607594
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Autosomal Recessive Polycystic Kidney Disease
Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, Oliguria, Acute... ORPHA:731
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Short statur... OMIM:610829
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Intrauterine growth retardation, Short stature OMIM:601186
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Hemolytic-uremic syndrome, Hepatosplenomegaly,... OMIM:619644
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Microphthalmia, Anophthalmia, Edema, Severe short stature, Pleural effusion, Microcep... ORPHA:2526
Immunodeficiency 54
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:609981
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Gonadoblastoma, Congenital megaureter, Cardiomegaly, Nephroli... ORPHA:116
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:614470
Holoprosencephaly
Dandy-Walker malformation, Microphthalmia, Anophthalmia, Branchial anomaly, Aplasia/Hypoplasia of... ORPHA:2162
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Hypoplasia of the ovary, Bicornua... ORPHA:79328
Leprechaunism
Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Labial hypertrophy, Clitoral hypert... ORPHA:508
Meckel Syndrome
Dandy-Walker malformation, Microphthalmia, Anencephaly, Anophthalmia, Aplasia/Hypoplasia of the i... ORPHA:564
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Anophthalmia, Polymicrogyria, Porencephalic cyst, Fusion of the left and right t... OMIM:156810
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:615122
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Cerebrooculonasal Syndrome
Anophthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Macrocephaly OMIM:605627
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Nephritis, Splenomegaly, Chronic noninfectious... OMIM:603909
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Epididymitis, Prostatitis, Lymph node hypoplasia OMIM:300755
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymph nodes, Hepatosplenom... ORPHA:911
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly, Hypogonadotropic hypogonadism ORPHA:353298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Nephrocalcinosis, Tubulointerstitial fibrosis, Polycystic ovaries, Stage 5 chronic ... ORPHA:79259
Cockayne Syndrome Type 1
Basal ganglia calcification, Anophthalmia, Postnatal growth retardation ORPHA:90321
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent t... OMIM:618935
Boutonneuse Fever
Lymphadenopathy, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Joubert Syndrome 21
Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum OMIM:615636
Griscelli Syndrome Type 2
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79477
Klatskin Tumor
Lymphadenopathy, Hepatomegaly ORPHA:99978
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Castleman Disease
Ureteral obstruction, Mediastinal lymphadenopathy, Lymphadenopathy, Hematuria, Generalized lympha... ORPHA:160
Roifman Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616651
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Charge Syndrome
Dandy-Walker malformation, Intrauterine growth retardation, Microphthalmia, Short stature, Anopht... ORPHA:138
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Umbilical hernia, Aniridia ORPHA:1101
Lig4 Syndrome
Lymphadenopathy, Hepatomegaly, Cryptorchidism, Hypoplasia of penis ORPHA:99812
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Leishmaniasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:507
Scrub Typhus
Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:3226
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Craniofacial Microsomia
Branchial anomaly, Anophthalmia, Microphthalmia, Agenesis of corpus callosum OMIM:164210
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Lymphadenopathy, Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insuff... ORPHA:36412
14Q22Q23 Microdeletion Syndrome
Short stature, Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia, Agenesis of corp... ORPHA:264200
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia, Hypoplasia of the olfactory bulb ORPHA:2250
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neop... ORPHA:97289
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Arrhinencephaly, Microphthalmia, Growth delay, Anophthalmia, Absent s... ORPHA:2538
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Nephroblastoma, Enlarged kidney ORPHA:500095
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Lymph node hypoplasia ORPHA:276
Omenn Syndrome
Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, Splenomegaly ORPHA:39041
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Griscelli Syndrome
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:381
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:616100
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Malakoplakia
Prostate neoplasm, Urinary bladder inflammation, Urinary urgency, Urinary hesitancy, Hematuria, D... ORPHA:556
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Growth delay, Anophthalmia, Absent septum pellucidum, Severe short stature, Agene... ORPHA:2556
Legionnaires Disease
Lymphadenopathy, Hematuria, Bone marrow hypocellularity, Splenomegaly, Proteinuria, Renal insuffi... ORPHA:549
Primary Myelofibrosis
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly ORPHA:824
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Lymph node hypoplasia, Splenomegaly OMIM:613179
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Lymphadenopathy, Abnormality of the urinary system, Hematuria, Nephritis, Dar... ORPHA:93552
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Splenomegal... OMIM:312870
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Felty Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Recurrent urinary tract... ORPHA:47612
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Lymphadenopathy, Hematuria, Abnormality of the ... ORPHA:538
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen, Hepatomegaly ORPHA:79456
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:169090
Microphthalmia, Syndromic 2
Dandy-Walker malformation, Microphthalmia, Short stature, Anophthalmia, Hypoplasia of the corpus ... OMIM:300166
Focal Dermal Hypoplasia
Microphthalmia, Myelomeningocele, Short stature, Umbilical hernia, Anophthalmia, Aniridia, Spina ... OMIM:305600
Lymphoproliferative Syndrome 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:613011
Cinca Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:1451
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Nephropathy ORPHA:809
Fraser Syndrome 1
Abnormal cortical gyration, Myelomeningocele, Anophthalmia, Bilateral microphthalmos, Microcephaly OMIM:219000
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Tubulointerstitial nephritis, Lymphadenopathy, Nephrotic syndrome ORPHA:139402
Gamma-Heavy Chain Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100026
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Niemann-Pick Disease, Type A
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:257200
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:829
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morphology, Macroc... ORPHA:141099
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy, Glomerulonephritis OMIM:304790
Charge Syndrome
Arrhinencephaly, Microphthalmia, Anophthalmia, Polyhydramnios, Delayed puberty, Gonadotropin defi... OMIM:214800
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... OMIM:260920
Macrophage Activation Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly ORPHA:343
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Oliguria ORPHA:514
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Abnormal renal physiology, Hepatomegaly, Splenomegaly ORPHA:540
Fraser Syndrome
Microphthalmia, Myelomeningocele, Anophthalmia, Umbilical hernia, Microcephaly ORPHA:2052
Aggressive Systemic Mastocytosis
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism ORPHA:98850
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Azoospermia, Lymphadenopathy, Cardiomegaly, Splenomegaly, Micropenis, Hepatosplenom... OMIM:602782
Multiple Myeloma
Nephrotic syndrome, Lymphadenopathy, Splenomegaly, Acute kidney injury, Nephropathy, Abnormality ... ORPHA:29073
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Familial Mediterranean Fever
Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Splenomegaly, Nephropathy, Orchitis, Prote... ORPHA:342
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Microphthalmia, Anophthalmia, Inferior vermis hypoplasia, Aplasia of th... OMIM:607932
Branchiooculofacial Syndrome
Intrauterine growth retardation, Microphthalmia, Agenesis of cerebellar vermis, Anophthalmia, Bra... OMIM:113620
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Fluctuating hepatomegaly, Hepatosplenomegaly, Elevated... OMIM:610377
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatosplenomegaly, Enlarged tonsils OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Hepatomegaly, Lymphadenitis, Splenomegaly OMIM:306400
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:617591
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Microphthalmia With Limb Anomalies
True anophthalmia, Arrhinencephaly, Microphthalmia, Short stature ORPHA:1106
Acute Promyelocytic Leukemia
Lymphadenopathy, Hematuria ORPHA:520
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, Urinary retention ORPHA:79124
Waldenström Macroglobulinemia
Lymphadenopathy, Hepatomegaly, Renal insufficiency, Splenomegaly ORPHA:33226
Poems Syndrome
Lymphadenopathy, Hypogonadism, Visceromegaly ORPHA:2905
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma ORPHA:1333
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:603553
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Abnormality of... ORPHA:228123
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Chediak-Higashi Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:214500
Q Fever
Hepatomegaly, Lymphadenopathy, Hematuria, Splenomegaly, Hepatosplenomegaly ORPHA:781
Hennekam Syndrome
Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Lymphangioma, Splenomegaly, Ectopi... ORPHA:2136
Igg4-Related Submandibular Gland Disease
Lymphadenopathy, Renal insufficiency, Abnormality of the kidney, Prostatitis ORPHA:449432
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphadenopathy, Abnormality of the lymph nodes, Splenomegaly, Generalized lymphade... ORPHA:50918
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hypersplenism, Chronic ... ORPHA:3261
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis OMIM:607944
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98849
Ileal Neuroendocrine Tumor
Lymphadenopathy, Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy, Hydronephrosis ORPHA:100077
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadenopathy, Membranous nephropathy, Spleno... ORPHA:37042
Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Aplasia of the thymus ORPHA:83471
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatosplenomegaly, Ren... OMIM:615688
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange d... ORPHA:31150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Accessory spleen, Polysplenia OMIM:619418
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Multiple Endocrine Neoplasia Type 2
Elevated urinary epinephrine, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated... ORPHA:653
Brucellosis
Hepatomegaly, Lymphadenopathy, Epididymitis, Splenomegaly, Intrarenal abscess, Hypersplenism, Orc... ORPHA:1304
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:32960
Selective Igm Deficiency
Lymphadenopathy, Recurrent urinary tract infections, Lymphadenitis ORPHA:331235
Sarcoidosis
Hepatomegaly, Tubulointerstitial nephritis, Nephrocalcinosis, Lymphadenopathy, Abnormal reproduct... ORPHA:797
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Nephritis, Bone marrow hypocellularity, Splenomegaly, Hepatosplenomegaly, Cervic... ORPHA:2442
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Hydronephrosis ORPHA:100076
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia, Growth delay, Microcephaly OMIM:309800
Behçet Disease
Lymphadenopathy, Splenomegaly, Glomerulopathy, Orchitis, Renal insufficiency ORPHA:117
Cherubism
Submandibular lymph node enlargement OMIM:118400
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Vaginal dryness, Glomerulonephritis, Renal insuffi... ORPHA:289390
Igg4-Related Ophthalmic Disease
Lymphadenopathy, Orchitis, Abnormality of the kidney, Prostatitis ORPHA:449563
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Lymphadenopathy, Hematuria, Epididymitis, Splenomegaly, Orchitis, Proteinuria ORPHA:99827
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Lymphadenopathy, Epididymitis, Cardiomegaly, Splenomegaly OMIM:256040
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:667
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Hypercalciuria OMIM:181000
Blau Syndrome
Lymphadenopathy, Clear cell renal cell carcinoma, Stage 5 chronic kidney disease, Splenomegaly, N... ORPHA:90340
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Marburg Hemorrhagic Fever
Lymphadenopathy, Orchitis, Renal insufficiency ORPHA:99826
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Tubulointerstitial nephritis ORPHA:79078
Leptospirosis
Lymphadenopathy, Hepatomegaly, Acute kidney injury, Cellular urinary casts ORPHA:509
African Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Urinary incontinence, Hepatosplenomegaly, Renal insu... ORPHA:3385
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Prostate cancer, Abnormality of the lymph nodes, Neoplasm of th... ORPHA:99889
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Anoperineal fistula, Follicular hyperplasia, Splenomegaly OMIM:619381

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 Zfp503

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 Zfp503.

No publications found that use IMPC mice or data for Zfp503.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Zfp503tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Zfp503tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zfp503tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zfp503tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Zfp503em1(IMPC)Mbp Whole-gene deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter