Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
C-type lectin domain family 4, member n
Synonyms:
dectin-2,  Nkcl,  Clecsf10

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clec4n 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 Clec4n by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst, BCGitis OMIM:619549
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... OMIM:618944
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... ORPHA:319552
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Increased circulating interleukin 10 concentration, Recurrent infections, Howell-Jolly bodies OMIM:613759
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Increased circulating Interferon-alpha concentration, Splenomegaly, Thrombocyto... OMIM:615010
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Immunodeficiency 32B
Recurrent infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG level, Splenome... OMIM:226990
Acute Lung Injury
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating cytokine concentr... ORPHA:178320
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero... ORPHA:540
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... OMIM:611521
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Anemia, Increased circulating interleukin 8 co... OMIM:620514
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent... ORPHA:79124
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Sweet Syndrome
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L... ORPHA:3243
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia OMIM:266265
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Brain abscess, Severe viral infection, Leukocytosis... ORPHA:544482
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Heme Oxygenase 1 Deficiency
Sepsis, Coombs-positive hemolytic anemia, Thrombocytosis, Increased circulating interleukin 6 con... OMIM:614034
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Anemia OMIM:608068
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired ... OMIM:618935
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation OMIM:260570
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233710
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidi... ORPHA:391487
Netherton Syndrome
Aminoaciduria, Recurrent respiratory infections, Increased circulating IgE level, Hydronephrosis,... ORPHA:634
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... OMIM:233690
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... OMIM:214500
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Increased circulating i... ORPHA:457077
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c... ORPHA:449400
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Recu... ORPHA:167
Granulomatous Disease, Chronic, X-Linked
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... OMIM:306400
Sepsis In Premature Infants
Invasive fungal infection, Leukocytosis, Splenomegaly, Anemia, Severe infection, Neutropenia, Thr... ORPHA:90051
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... OMIM:613470
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract, Sepsis ORPHA:873
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Peripartum Cardiomyopathy
Anemia, Increased circulating interferon-gamma concentration ORPHA:563
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... OMIM:251260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Neutropenia, Recurrent lower respiratory tract infections, Eryth... OMIM:612541
Castleman Disease
Increased circulating interleukin 6 concentration, Anemia, Decreased mean corpuscular volume, Thr... ORPHA:160
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Aggressive Systemic Mastocytosis
Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, Leukoc... ORPHA:98850
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media OMIM:618494
Uremic Pruritus
Abnormal circulating cytokine concentration ORPHA:94059
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... ORPHA:2968
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Endove Syndrome, Limb-Only Type
Hydronephrosis, Neonatal sepsis, Vesicoureteral reflux OMIM:619217
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... OMIM:256040
Suleiman-El-Hattab Syndrome
Hydronephrosis, Recurrent respiratory infections OMIM:618950
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro... OMIM:222300
Igg4-Related Kidney Disease
Chronic kidney disease, Increased circulating IgE level, Urethritis, Hematuria, Tubulointerstitia... ORPHA:449395
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the spleen, Abnormality of the ureter, Renal hy... ORPHA:1834
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Renal insufficiency, Hydronephrosis, Thrombocytopenia, Anemia, Recurrent infecti... OMIM:611209
Kury-Isidor Syndrome
Hydronephrosis, Recurrent otitis media OMIM:619762
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Shwachman-Diamond Syndrome
Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Sepsis, Aplastic anem... ORPHA:811
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Hydronephrosis, Thrombocytopenia... OMIM:301056
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus ORPHA:3378
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Recurrent infections, Hydronephrosis ORPHA:364028
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Diabetic Embryopathy
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia ORPHA:1926
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Sepsis, Hydroureter, Fetal megacystis OMIM:619362
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Hypospadias OMIM:616897
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Hepatosplenom... OMIM:620376
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Uretero... ORPHA:49041
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Recurrent infections, Hypospadias, I... OMIM:616737
3C Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias, Recurrent respiratory infections ORPHA:7
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr... ORPHA:2973
Yellow Fever
Opportunistic infection, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inte... ORPHA:99829
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Duplicated collecting system, Hepatosplenomegaly, Recurrent infections ORPHA:541423
Kleefstra Syndrome
Recurrent respiratory infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Ren... ORPHA:261494
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
46,Xy Sex Reversal 4
Hydronephrosis, Recurrent otitis media, Ureteropelvic junction obstruction, Renal dysplasia OMIM:154230
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Recurrent upper respiratory tract infections, Micropenis OMIM:612513
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Melnick-Needles Syndrome
Hydronephrosis, Recurrent respiratory infections, Vesicoureteral reflux ORPHA:2484
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral ... OMIM:608836
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Recurrent pneumonia OMIM:619179
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Thrombocytopenia OMIM:610733
Severe Generalized Junctional Epidermolysis Bullosa
Duplicated collecting system, Multicystic kidney dysplasia, Sepsis, Hydroureter, Ureterocele, Uri... ORPHA:79404
Johanson-Blizzard Syndrome
Anemia, Hypoplasia of penis, Hydronephrosis, Hypospadias ORPHA:2315
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Recurrent pneumonia, Hypospadias OMIM:616449
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis ORPHA:2437
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospadias ORPHA:96169
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Abnormal hemoglobin, Infectious encephalitis, Hydronephrosis,... ORPHA:847
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Carpenter Syndrome 1
Hydronephrosis, Hydroureter, Polysplenia OMIM:201000
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Lymphopenia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Neutropenia, An... OMIM:618460
ERI1-related disease
Hydronephrosis, Vesicoureteral reflux OMIM:608739
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Recurrent infections, Neurogenic bladder, Splenomegaly OMIM:608779
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Splenomegaly, Hydroneph... OMIM:617913
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Recurrent respiratory infections ORPHA:261349
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of penis, Renal dysp... ORPHA:99776
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe... OMIM:601186
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Renal agenesis, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduce... OMIM:301040
Microphthalmia, Lenz Type
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia ORPHA:568
Al-Gazali Syndrome
Hydronephrosis, Recurrent pneumonia OMIM:609465
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Webb-Dattani Syndrome
Hydronephrosis, Neurogenic bladder, Vesicoureteral reflux, Hyposthenuria OMIM:615926
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Increased c... ORPHA:51
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral duplication, Ureteral hypo... OMIM:614080
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Recurrent infe... OMIM:618454
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Splenomegaly OMIM:235255
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Splenomegaly, Hydronephrosis, Abnormal renal morphology, Micropenis ORPHA:1655
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Functional abnormality of the bladder, Nephrolithiasis ORPHA:2953
Koolen-De Vries Syndrome
Hydronephrosis, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:610443
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Recurrent infecti... ORPHA:464311
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Recurrent respiratory infections, Renal dysplasia OMIM:300968
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Ectopic kidney OMIM:235510
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology ORPHA:314585
Dubowitz Syndrome
Recurrent infections, Hydronephrosis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute... ORPHA:235
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Recurrent pneumonia, Hypospadias, Male urethral meatus stenosis ORPHA:464738
Tarp Syndrome
Horseshoe kidney, Hydronephrosis OMIM:311900
Kabuki Syndrome
Recurrent infections, Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic... ORPHA:2322
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts OMIM:214100
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Anemia, Severe infection, Thrombocytopenia, Increased circulating interleukin 6 con... ORPHA:340
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Micropeni... OMIM:146510
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Recurrent infecti... ORPHA:464306
Gabriele-De Vries Syndrome
Hydronephrosis, Recurrent infections, Ureteropelvic junction obstruction OMIM:617557
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... ORPHA:391641
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Polysplenia, Increased circulating IgE level, Splenome... ORPHA:373
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Recurrent otitis media OMIM:614921
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Hydronephrosis, Micropenis, Recurrent infections, Pelvic kidney OMIM:618653
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney OMIM:613001
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, G... ORPHA:900
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... OMIM:300707
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Micropenis ORPHA:96092
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
Congenital Myopathy 17
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Cat Eye Syndrome
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis OMIM:115470
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Recurrent infections, Hypospadias, I... ORPHA:487796
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Splenomegaly OMIM:115150
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re... ORPHA:2785
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:2092
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Hydronephrosis, Micropenis, B lymphocytopenia, Decreased circulating to... ORPHA:83617
Stromme Syndrome
Accessory spleen, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Erdheim-Chester Disease
Anemia, Hydronephrosis, Dysuria, Renal insufficiency ORPHA:35687
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Multiple bladder diverticula, Hydronephrosis, Hypoplasia o... OMIM:613177
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Abnormal bladder morphology, Vesicoureteral reflux ORPHA:453499
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera... OMIM:604292
White-Kernohan Syndrome
Horseshoe kidney, Recurrent otitis media, Hydronephrosis, Hydroureter OMIM:619426
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Extramedullary hematopoiesis ORPHA:2886
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy... OMIM:129900
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Hepatosplenomegaly, H... OMIM:301068
7Q11.23 Microduplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Enuresis, Hypospadias ORPHA:96121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla... ORPHA:280633
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis, Vesicoureteral reflux OMIM:616580
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Smith-Lemli-Opitz Syndrome
Recurrent infections, Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvi... ORPHA:818
Trisomy 8P
Nephrocalcinosis, Recurrent upper respiratory tract infections, Hydronephrosis, Micropenis, Fetal... ORPHA:264450
Eec Syndrome
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Hypoplasia of the thymus, Urethr... ORPHA:1896
Otopalatodigital Syndrome Type 2
Hydronephrosis, Ureteral obstruction, Hypospadias ORPHA:90652
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Micropenis, Thrombocytopenia, Anemia, Hypospadias ORPHA:163979
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Ureteral hypoplasia,... ORPHA:79328
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Asplenia ORPHA:210122
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Recurrent otitis media, Vesicoureteral reflux, Renal duplicat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Recurrent otitis media, Vesicoureteral reflux, Renal duplicat... ORPHA:363958
Jacobsen Syndrome
Bone marrow hypocellularity, Multicystic kidney dysplasia, Hydronephrosis, Thrombocytopenia, Recu... ORPHA:2308
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Recurr... OMIM:270400
Oeis Complex
Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Hydronephrosis,... OMIM:258040
Raine Syndrome
Hydronephrosis, Hydroureter OMIM:259775
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:444072
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis, Recurrent respiratory infections ORPHA:1507
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Schinzel-Giedion Syndrome
Recurrent pneumonia, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, ... ORPHA:798
Opitz Gbbb Syndrome
Hydronephrosis, Abnormality of the urinary system, Vesicoureteral reflux, Hypospadias ORPHA:2745
Melnick-Needles Syndrome
Hydronephrosis, Recurrent otitis media, Recurrent respiratory infections, Ureteral stenosis OMIM:309350
Distal Deletion 12Q
Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic kidney dysplasia ORPHA:96149
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hydronephrosis, Duplicated collecting system, Acute lymphoblastic leukemia, Ureteropelvic junctio... OMIM:280000
Cousin Syndrome
Hydronephrosis OMIM:260660
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Ureteral stenosis, Hydronephrosis, Micropenis, Splenopancreatic fusion, Hypospadias OMIM:269150
Apert Syndrome
Hydronephrosis OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction OMIM:616973
Fryns Syndrome
Renal agenesis, Polysplenia, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias OMIM:229850
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Chime Syndrome
Hydronephrosis, Acute leukemia, Abnormality of the kidney ORPHA:3474
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Renal insufficiency, Sple... OMIM:188400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias OMIM:300712
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Arboleda-Tham Syndrome
Hydronephrosis, Recurrent otitis media, Recurrent respiratory infections, Recurrent urinary tract... OMIM:616268
Kabuki Syndrome 1
Recurrent otitis media, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hydronep... OMIM:147920
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Eosinophilia, Splenomegaly ORPHA:75565
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Orofaciodigital Syndrome Type 1
Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency ORPHA:2750
Ileal Neuroendocrine Tumor
Hydronephrosis, Iron deficiency anemia ORPHA:100078
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Vater/Vacterl Association
Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hydronephrosis, Ectopi... OMIM:192350
Frontometaphyseal Dysplasia
Hydronephrosis, Ureteral obstruction, Urethral stenosis ORPHA:1826
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Vesicoureteral reflux ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Vesicoureteral reflux ORPHA:352665
Liver Disease, Severe Congenital
Aminoaciduria, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Hyperechogenic... OMIM:619991
Monosomy 22Q13.3
Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux, Renal dysplasia ORPHA:48652
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki... ORPHA:2044
Occipital Horn Syndrome
Hydronephrosis, Ureteral obstruction, Bladder diverticulum OMIM:304150
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Campomelic Dysplasia
Hydronephrosis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:114290
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... ORPHA:353281
Knobloch Syndrome 1
Hydronephrosis, Bifid ureter, Duplicated collecting system, Renal duplication OMIM:267750
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Hydronephrosis, Asplenia,... OMIM:265380
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Recurrent respiratory infections, Hydronephrosis, Abnormality of the upper urinary t... ORPHA:2273
Rubinstein-Taybi Syndrome 1
Accessory spleen, Recurrent upper respiratory tract infections, Hydronephrosis, Leukemia, Hypospa... OMIM:180849
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... ORPHA:3310
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Recurrent otitis media, Hydronephrosis, Hypospadias, Con... OMIM:136140
1P36 Deletion Syndrome
Abnormality of the spleen, Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of p... ORPHA:1606
Gabriele-De Vries Syndrome
Hydronephrosis, Recurrent infections, Ureteropelvic junction obstruction ORPHA:506358
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... OMIM:619522
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladd... ORPHA:110
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Recurrent respiratory infections, ... OMIM:135900
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Nephrotic syndrome OMIM:601776
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Recurrent infections, Multicystic kidney dysplasia, Recurrent otitis media, Vesicou... ORPHA:261537
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Hydronephrosis, Ur... ORPHA:2729
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... ORPHA:353277
Mowat-Wilson Syndrome
Webbed penis, Recurrent infections, Multicystic kidney dysplasia, Recurrent otitis media, Vesicou... ORPHA:2152
Charge Syndrome
Hydronephrosis, Micropenis, Vesicoureteral reflux, Horseshoe kidney ORPHA:138
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Recurrent infections, Multicystic kidney dysplasia, Duplication of renal pelvis, Re... ORPHA:261552
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Recurrent otitis media, Wide penis, Vesicoureteral reflux, Hy... ORPHA:3455
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Hyperechogenic kidneys, Medullary nephrocalcinosis, Dark urine, R... OMIM:619534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Recurrent pneumonia, Recurrent bronchitis OMIM:620330
Viss Syndrome
Increased circulating IgE level, Decreased circulating IgA level, Hypereosinophilia, Hydronephros... OMIM:619472
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Vesicoureteral reflux, Hydronephrosis, Nephrolithiasis ORPHA:438213
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydronephrosis, Abnormal renal morphology, Granuloma, Renal hypoplasia/aplasia ORPHA:363700
Focal Dermal Hypoplasia
Hydronephrosis, Ureteral duplication, Bifid ureter, Horseshoe kidney OMIM:305600
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cys... OMIM:312870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Lacrimoauriculodentodigital Syndrome
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux ORPHA:2363
Sotos Syndrome
Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obstruction, P... ORPHA:821
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Lymphopenia, Hydronephrosis, Micropenis OMIM:214800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Renal dysplasia, Recurrent upper and lower respiratory tract infections ORPHA:480880
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Hydrolethalus Syndrome 1
Accessory spleen, Hydronephrosis, Hypospadias OMIM:236680
Acrofacial Dysostosis, Cincinnati Type
Hydronephrosis, Recurrent otitis media OMIM:616462
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Renal hypoplasia, Hypospadias OMIM:261540
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Hypospadias OMIM:304120
Johanson-Blizzard Syndrome
Splenomegaly, Hydronephrosis, Micropenis, Hypospadias, Urethrovaginal fistula OMIM:243800
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

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 Clec4n

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 Clec4n.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
C-type lectin receptor expression is a hallmark of neutrophils infiltrating the skin in epidermolysis bullosa acquisita. Frontiers in immunology (September 2023) Clec4ntm2a(KOMP)Wtsi PMC10548123

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Clec4ntm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Clec4ntm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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