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Gene: Clec4n MGI:1861231

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
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 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thr... OMIM:613496
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG... OMIM:226990
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... ORPHA:178320
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal... ORPHA:540
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ... ORPHA:158061
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... ORPHA:3243
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Increased circulating interleukin 6 concentration, Hemolytic anemia, Severe infect... ORPHA:544482
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... OMIM:236730
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... OMIM:618935
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis OMIM:260570
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:233690
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Netherton Syndrome
Recurrent respiratory infections, Ectopic kidney, Increased circulating IgE level, Decreased circ... ORPHA:634
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti... ORPHA:167
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... OMIM:306400
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Recurrent respiratory infections, Defective production of NFKB1-dependent cytokines... OMIM:612132
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Desmoid Tumor
Sepsis, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent ... OMIM:251260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Perianal abscess, Hepatosplenomegaly, ... OMIM:612541
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca... ORPHA:2968
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Recurrent otitis media, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hydronephrosis, Thro... OMIM:222300
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Neonatal sepsis, Hydronephrosis OMIM:619217
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Hydronephrosis OMIM:618950
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Kury-Isidor Syndrome
Recurrent otitis media, Hydronephrosis OMIM:619762
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Recurrent infection... OMIM:611209
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Increased circulating IgG level, Tubu... ORPHA:449395
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Leukopenia, Vesicoureteral reflux, Micropenis, Hydrone... OMIM:301056
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis, Recurrent infections ORPHA:364028
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Sepsis, Fetal megacystis, Hydronephrosis OMIM:619362
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
3C Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithel... ORPHA:49041
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Recurrent infections, Hyd... OMIM:616737
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Recurrent infections, Hydronephrosis, Hepatosplenomegaly ORPHA:541423
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Kleefstra Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cy... ORPHA:261494
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Recurrent otitis media, Hydronephrosis OMIM:154230
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Recurrent upper respiratory tract infections, Hydronephrosis OMIM:612513
Melnick-Needles Syndrome
Vesicoureteral reflux, Recurrent respiratory infections, Hydronephrosis ORPHA:2484
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Hydronephrosis OMIM:619179
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Thrombocytopenia OMIM:610733
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad... ORPHA:79403
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Hypospadias, Hydronephrosis OMIM:616449
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis, Anemia ORPHA:2315
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication ORPHA:96169
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ... ORPHA:847
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... ORPHA:158684
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Carpenter Syndrome 1
Hydroureter, Hydronephrosis, Polysplenia OMIM:201000
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen... OMIM:618460
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent... OMIM:617913
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Congenital Disorder Of Glycosylation, Type Iie
Splenomegaly, Neurogenic bladder, Hydronephrosis, Recurrent infections OMIM:608779
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Asplenia, Horseshoe kidney, Multiple renal cysts, Hydroneph... ORPHA:99776
Microphthalmia, Syndromic 9
Renal malrotation, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplastic spleen,... OMIM:601186
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M... OMIM:301040
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral... OMIM:614080
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis OMIM:615926
Al-Gazali Syndrome
Recurrent pneumonia, Hydronephrosis OMIM:609465
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Recurrent infections, Microphallus, Vesicoureteral reflux, Hydronep... OMIM:618454
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Micropenis, Hydronephrosis OMIM:235255
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Recurrent respiratory infections, Hydronephrosis OMIM:300968
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Micropenis, Hydronephrosis ORPHA:1655
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Recurrent infections, Micropenis, Pelvic kidn... ORPHA:464311
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Koolen-De Vries Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Ectopic kidney OMIM:235510
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Dubowitz Syndrome
Hypospadias, Abnormality of neutrophils, Recurrent infections, Acute lymphoblastic leukemia, Anem... ORPHA:235
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis, Recurrent infections OMIM:617557
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hydronephrosis OMIM:614921
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Recurrent infections, Micropenis, Pelvic kidn... ORPHA:464306
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Recurrent infections, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Recurrent respiratory infect... ORPHA:900
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Proximal renal tubular acidosis, Nephrolithiasis, Anemia, Leukopenia, Renal tubular... ORPHA:2785
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... ORPHA:2237
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydronephrosis OMIM:115150
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Micropenis, Hydrone... ORPHA:83617
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Recurrent infections, Hyd... ORPHA:487796
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Hypoplasia of the thymus, Multiple bladder diverticula, Hy... OMIM:613177
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... ORPHA:280633
White-Kernohan Syndrome
Recurrent otitis media, Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria, Anemia ORPHA:35687
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Tarp Syndrome
Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney ORPHA:2886
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... OMIM:301068
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re... ORPHA:90324
Campomelic Dysplasia
Hydronephrosis ORPHA:140
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:250989
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
Trisomy 8P
Fetal pyelectasis, Recurrent upper respiratory tract infections, Nephrocalcinosis, Micropenis, Hy... ORPHA:264450
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Recurrent respiratory infections, Hydroureter, Ren... OMIM:129900
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Hypoplasia of the thymus, Vesicoureteral... ORPHA:1896
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Anemia, Micropenis, Hydronephrosis, Thrombocytopenia ORPHA:163979
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Bone marrow hypocellularity, Hydr... ORPHA:2308
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... ORPHA:79328
Congenital Alveolar Capillary Dysplasia
Asplenia, Hydronephrosis ORPHA:210122
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Fetal pyelecta... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Fetal pyelecta... ORPHA:363958
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Schinzel-Giedion Syndrome
Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Ren... ORPHA:798
Melnick-Needles Syndrome
Recurrent otitis media, Recurrent respiratory infections, Ureteral stenosis, Hydronephrosis OMIM:309350
Opitz Gbbb Syndrome
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis ORPHA:2745
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
Cousin Syndrome
Hydronephrosis OMIM:260660
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Micropenis, Hydronephrosis OMIM:269150
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Duplicated collecting system, Ureteropelvic junction obstruction, H... OMIM:280000
Apert Syndrome
Hydronephrosis OMIM:101200
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Polysplenia, Hydronephrosis OMIM:229850
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Chime Syndrome
Abnormality of the kidney, Hydronephrosis, Acute leukemia ORPHA:3474
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Recurrent pneumoni... OMIM:188400
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis OMIM:300712
Arboleda-Tham Syndrome
Recurrent otitis media, Recurrent respiratory infections, Recurrent urinary tract infections, Hyd... OMIM:616268
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Hydronephrosis ORPHA:100078
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis ORPHA:453504
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Splenomegaly, Sepsis, Leukopen... OMIM:619991
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis ORPHA:352665
Kabuki Syndrome 1
Hemolytic anemia, Crossed fused renal ectopia, Autoimmune thrombocytopenia, Micropenis, Recurrent... OMIM:147920
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Campomelic Dysplasia
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Hypos... OMIM:114290
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Nephrolithiasi... ORPHA:353281
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Hy... OMIM:265380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormality of the uppe... ORPHA:2273
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hypospadias, Recurrent upper respiratory tract infections, Leukemia, Hydronephr... OMIM:180849
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Recurr... OMIM:136140
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis, Recurrent infections ORPHA:506358
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormality of the spleen, Renal cys... ORPHA:1606
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hyd... OMIM:135900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Decreased circulating ... ORPHA:261537
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of... ORPHA:353277
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Asple... ORPHA:2152
Okamoto Syndrome
Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... ORPHA:2729
Charge Syndrome
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney ORPHA:138
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis OMIM:601776
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Asplenia, Decreased circulating ... ORPHA:261552
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypospadias, Wide penis, Recurrent otitis media, Vesicoureter... ORPHA:3455
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Granuloma, Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:363700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Recurrent respiratory infections, Renal insufficiency, Splenomegaly, Dilatation of th... OMIM:619534
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Hydronephrosis, Recurrent bronchitis OMIM:620330
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Anemia ORPHA:438213
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Nephroblastoma, ... OMIM:312870
Viss Syndrome
Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG level, Hydronephros... OMIM:619472
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Lymphopenia, Hydronephrosis OMIM:214800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Recurrent upper and lower respiratory tract infections, Hydronephrosis ORPHA:480880
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Hydronephrosis OMIM:236680
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia OMIM:261540
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis OMIM:304120
Johanson-Blizzard Syndrome
Hypospadias, Urethrovaginal fistula, Splenomegaly, Micropenis, Hydronephrosis 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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