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Gene: Pdcd4 MGI:107490

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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:
programmed cell death 4
Synonyms:
D19Ucla1,  MA-3,  TIS

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 Pdcd4 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 Pdcd4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Renal cyst, Astrocytoma, Breast intraductal papilloma, Ovarian cyst, Thyr... OMIM:617100
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... ORPHA:454840
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Renal cyst, ... OMIM:135150
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Autoimmunity... ORPHA:275555
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c... OMIM:615993
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... ORPHA:480536
Peutz-Jeghers Syndrome
Esophageal neoplasm, Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Ren... ORPHA:2869
Ataxia-Telangiectasia
Polycystic ovaries, Decreased circulating antibody level, Abnormal testis morphology, Neoplasm ORPHA:100
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi... OMIM:145001
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Acquired Ichthyosis
Lymphoma, Multiple myeloma, Sarcoma, Neoplasm, Autoimmunity, Renal insufficiency ORPHA:454
Cowden Syndrome 1
Carcinoma, Decreased circulating antibody level, Hamartomatous polyposis, Varicocele, Transitiona... OMIM:158350
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:3085
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries ORPHA:79084
Cowden Syndrome 6
Hamartomatous polyposis, Varicocele, Transitional cell carcinoma of the bladder, Meningioma, Ovar... OMIM:615109
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A... ORPHA:2795
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ... OMIM:617006
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Cowden Syndrome 5
Hamartomatous polyposis, Transitional cell carcinoma of the bladder, Meningioma, Ovarian cyst, Th... OMIM:615108
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor,... OMIM:175200
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal cyst, Hyperechogenic... OMIM:619902
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased circulating IgG level, Increased circulating IgA le... ORPHA:2298
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Linear Iga Dermatosis
Autoimmunity, Renal neoplasm, Bladder neoplasm ORPHA:46488
Carney Complex
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor... ORPHA:1359
Acquired Generalized Lipodystrophy
Lymphoma, Astrocytoma, Proteinuria, Autoimmunity, Polycystic ovaries ORPHA:79086
Secondary Non-Traumatic Avascular Necrosis
Systemic lupus erythematosus, Rheumatoid arthritis, Hematological neoplasm, Autoimmunity, Neoplasm ORPHA:399180
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Mccune-Albright Syndrome
Hepatocellular adenoma, Renal phosphate wasting, Abnormal testis morphology, Precocious puberty, ... ORPHA:562
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Abnormality of the kidney, Hypospadias, Azoospermia, Ur... ORPHA:1772
Cystic Echinococcosis
Increased circulating antibody level, Abnormality of the testis size, Renal cyst, Ovarian cyst, H... ORPHA:400
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
Unclassified Myelodysplastic Syndrome
Autoimmunity, Multiple lineage myelodysplasia, Acute myeloid leukemia, Myelodysplasia ORPHA:98827
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1770
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
C3 Glomerulopathy
Acute kidney injury, C3 nephritic factor positivity, Hematuria, Paraproteinemia, Nephrotic syndro... ORPHA:329918
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Incre... ORPHA:90795
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma, Cortical tubers OMIM:600273
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology ORPHA:1227
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism OMIM:268020
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Thymoma
Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestinal tract, Leukemi... ORPHA:99867
Trisomy X
Precocious puberty, Autoimmunity, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis OMIM:246200
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Renal tubular atrophy, Multiple renal cysts, Stag... OMIM:603860
Interstitial Cystitis
Abnormal labia morphology, Abnormal vagina morphology, Abnormality of the bladder, Pollakisuria, ... ORPHA:37202
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis ORPHA:335
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Tuberous Sclerosis 2
Retinal hamartoma, Adenoma sebaceum, Absence of renal corticomedullary differentiation, Cardiac r... OMIM:613254
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc... OMIM:613390
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Proteus-Like Syndrome
Hemangioma, Exostoses, Abnormality of the parathyroid gland, Subcutaneous lipoma, Polycystic ovar... ORPHA:2969
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphoma, Autoimmunity, Autoimmune thrombocytopenia, Lympho... OMIM:614470
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Spinal hemangi... OMIM:193300
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Urinary incontinence, Abnormal nephron morphology, Ure... ORPHA:93108
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Clitoral hypertrophy, Precocious puberty in females, Polycystic... ORPHA:528
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias, Renal cyst OMIM:605231
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Cowden Syndrome
Lipoma, Neoplasm of the skin, Neoplasm, Neoplasm of the central nervous system, Abnormality of th... ORPHA:201
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma, Ovarian serous cystadenoma, Multiple lipomas, Hydrocele testis ORPHA:276280
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Glomerulopathy ORPHA:2348
Tuberous Sclerosis 1
Adenoma sebaceum, Cardiac rhabdomyoma, Subungual fibromas, Chordoma, Subependymal nodules, Gingiv... OMIM:191100
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Neoplasm... ORPHA:249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Joubert Syndrome 20
Renal cyst OMIM:614970
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:435651
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Short Syndrome
Ovarian cyst OMIM:269880
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa... ORPHA:95699
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, R... OMIM:263200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Renal tubular acidosis, Myoglobinuria, Hepatocellular carcinoma, Polycyst... ORPHA:79240
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Hyperparathyroidism OMIM:618188
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:79083
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Multiple myeloma, Rheumatoid arthritis, Systemic lupus eryt... ORPHA:48377
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Multiple glomerular cysts, Unilateral renal agenesis, Abn... OMIM:137920
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Renal Coloboma Syndrome
Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Multicystic kidney... ORPHA:1475
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Hypercalciuria, Renal hamartoma, Nephrol... ORPHA:99880
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys OMIM:613885
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Hypothalamic hamartoma, Ovarian cyst, Proteinuria, Hepatic cysts, Ha... OMIM:311200
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t... ORPHA:3109
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Systemic lupus erythematosus, Autoimmuni... ORPHA:90033
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche ORPHA:371428
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Lymphoma, Systemic lupus erythematosus, Autoimmunity, Abnormal urina... ORPHA:90036
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Myoglobinuria, Hepatocellular adenoma, Polycystic ovaries, Renal tubular acidosis ORPHA:264580
Parathyroid Carcinoma
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Hypercalciuria, R... ORPHA:143
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Vacterl/Vater Association
Hypospadias, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Renal agenesis, Hydronephrosis, ... ORPHA:887
Ovarian Fibroma
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ova... ORPHA:314473
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Subependymal nodules, Pheochromocytoma, Pituitary adenoma, Parathyroid adeno... ORPHA:805
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Ovarian Fibrothecoma
Fibrosarcoma, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal... ORPHA:314478
Trisomy 13
Capillary hemangioma, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral mea... ORPHA:3378
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Germ cell neoplasia, Azoospermia, Aplasia of the... ORPHA:90797
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Neoplasm of the tongue, Neoplasm of the skin, Hodgkin lymph... ORPHA:3261
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Hepatocellular carcinoma, N... ORPHA:79259
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Axial Osteomalacia
Renal cyst OMIM:109130
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne... ORPHA:1988
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Acute kidney injury, Glomerulopathy, Aplasia/Hypoplasia of the pancreas, Hyp... ORPHA:93111
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Micropenis, Embryonal rhabd... OMIM:257300
Intellectual Developmental Disorder, X-Linked 112
Hypospadias, Ectopic kidney, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Renal cy... OMIM:301111
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... ORPHA:2237
Bardet-Biedl Syndrome 17
Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... ORPHA:110
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Shawl scrotum, Cr... ORPHA:261265
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Hydronephros... ORPHA:314588
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Myelodysplasia ORPHA:1318
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries ORPHA:280365
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:158061
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Immunodeficiency 96
Decreased circulating IgG level, Decreased circulating total IgM, Multicystic kidney dysplasia, D... OMIM:619774
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Mody
Abnormality of the kidney, Hepatocellular adenoma, Pancreatic hypoplasia, Renal cyst, Glycosuria,... ORPHA:552
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic endocrine tumor, Adren... ORPHA:892
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Neoplasm of the heart, Megacystis, Cryptorchidism, Multicystic kidney dysplasia ORPHA:2241
Epidermal Nevus Syndrome
Spinal cord tumor, Polycystic kidney dysplasia, Rhabdomyosarcoma, Lipoma ORPHA:35125
Meckel Syndrome, Type 6
Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Absent ... OMIM:612284
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Hypothalamic ... OMIM:146510
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Trisomy 1Q
Congenital megaureter, Hydronephrosis, Small scrotum, Ambiguous genitalia, Cryptorchidism, Multic... ORPHA:261344
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis OMIM:270150
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Hydrone... ORPHA:261494
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Bicornuate uterus OMIM:263210
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Genitopalatocardiac Syndrome
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism, Multicystic ki... ORPHA:2075
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Horseshoe kidney, Renal cyst ORPHA:166035
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Polycystic ovaries, Nephrolithiasis OMIM:608594
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic hypoplasia, Renal cyst, Anti-thyroid peroxidase antibody ... OMIM:610199
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:600740
Autoimmune Polyendocrinopathy Type 4
Antiphospholipid antibody positivity, Decreased circulating antibody level, Anterior pituitary dy... ORPHA:227990
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Autoimmune Polyendocrinopathy Type 3
Antiphospholipid antibody positivity, Decreased circulating antibody level, Anterior pituitary dy... ORPHA:227982
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydr... ORPHA:2473
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Williams Syndrome
Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, Abnormal tubuloin... ORPHA:904
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Polycystic ovaries, Nephrolithiasis OMIM:269700
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Branchio-Oculo-Facial Syndrome
Hemangioma, Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovar... OMIM:188400
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, H... ORPHA:99776
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Streak ovary, Abnormal epididymis morphology, Hypoplasia of the fallopi... OMIM:233420
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Abnormal pituitary gland morphology, Anti-thyroglobulin antibody ... ORPHA:64744
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Zellweger Syndrome
Clitoral hypertrophy, Hypospadias, Hydronephrosis, Cryptorchidism, Multicystic kidney dysplasia ORPHA:912
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Squamous cell carcinoma, Duplicated collecting sy... ORPHA:79404
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Polycystic kidney dysplasia, Hypoplasia of the thymus, Cryptorchidism, Amin... OMIM:214110
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism, Nephrotic syndrome, Decreased c... OMIM:212065
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Renal insufficiency, Polycystic kidney dysplasia, Bile ... OMIM:208540
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Vaginal neoplasm, Acute lymphoblastic leu... ORPHA:1052
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Cornelia De Lange Syndrome 1
Hypospadias, Ectopic kidney, Abnormal renal morphology, Hypoplastic male external genitalia, Hypo... OMIM:122470
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Polycystic kidney dysplasia, Myoglobinuria, Red-brown urine, T... ORPHA:157
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Prostati... ORPHA:449432
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Nephro... ORPHA:369837
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Small scrotum,... OMIM:618454
Lymphangioleiomyomatosis
Retinal hamartoma, Renal neoplasm, Hematuria, Abnormal morphology of female internal genitalia, M... ORPHA:538
Genitopatellar Syndrome
Clitoral hypertrophy, Hydronephrosis, Small scrotum, Cryptorchidism, Multicystic kidney dysplasia ORPHA:85201
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Hamartoma of ... OMIM:613091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Cryptorchidism, Renal hypoplasia, Ambiguous genitalia, Hamartoma of tongue OMIM:616300
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Joubert Syndrome 2
Hypoplastic male external genitalia, Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Supernumerary nipple ORPHA:1001
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Bile duct proliferation, Stage 5 chronic... OMIM:267010
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hypospadias, Polycystic kidney dysplasia, Hypoplastic nipples, Renal cyst, ... OMIM:614866
Joubert Syndrome 14
Renal cyst OMIM:614424
Proteus Syndrome
Enlarged kidney, Lipoma, Neoplasm, Thymus hyperplasia, Hamartoma, Neoplasm of the central nervous... ORPHA:744
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Overgrowth of exte... OMIM:130650
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Renal cyst, Bile duct proliferation, Nephritis, Proteinuria, Chronic kidney ... OMIM:208500
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst ORPHA:1692
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Polycystic kidney dysplasia, Myoglobinu... ORPHA:228308
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Hydronephrosis, Posterior pitu... ORPHA:464311
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o... ORPHA:991
Beckwith-Wiedemann Syndrome
Rhabdomyosarcoma, Ureteral duplication, Enlarged kidney, Large intestinal polyposis, Multiple ren... ORPHA:116
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cryptorchidism, Multicysti... ORPHA:2059
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior pituitary hypo... ORPHA:464306
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Streak ovary, Teratoma, Ependymoma, Renal cyst, Nephrolithiasis, A... ORPHA:798
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Multiple renal cysts, Papilloma ORPHA:464329
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Decreased testicular size, Hydronephrosis, Hypogonadism, Multicystic kidney... ORPHA:261349
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Chronic lymphatic leuk... ORPHA:3243
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collecting system, Bi... OMIM:270400
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Alveolar Echinococcosis
Increased circulating antibody level, Abnormal bladder morphology, Renal cyst, Hepatic cysts, Pan... ORPHA:284
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Joubert Syndrome With Hepatic Defect
Nephropathy, Neoplasm of the liver, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Opitz Gbbb Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Hydronephrosis, Shawl scrot... ORPHA:2745
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis OMIM:618460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Supernumerary nipple, Hypospadias, Hydroureter, Hypoplasia of penis, Increa... ORPHA:373
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal cyst, Bifid ureter, Nephroblastoma, Renal malrotation OMIM:617107
Fryns Syndrome
Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Renal agenesis, ... OMIM:229850
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Giant cell tumor of bone, Hydronephrosis, Multicystic kidney dysplasia,... ORPHA:2092
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Aplasia of the bladder, Absent nipple, Bicornuate uterus, Unicornuat... OMIM:200980
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Long penis, Precocious puberty, Nephrocalcinosis, Increased pineal volume, ... ORPHA:769
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Reduced renal corticomed... OMIM:266920
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Vesicoureteral reflux, Abnormality of the kidney OMIM:606232
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Rectovaginal fistula, Perineal fistula, Renal agenesis, Crossed fused r... ORPHA:2538
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Precocious puberty, Varicocele, Dilatation ... ORPHA:2044
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts ORPHA:1190
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia, Oliguria,... ORPHA:731
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Renal hypoplasia, Ambiguous genitalia, Hamartoma of tongue, Cystic renal dys... OMIM:269860
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Azoospermia, Hypercalciuria, Neoplas... ORPHA:534
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Tetrasomy 9P
Recurrent urinary tract infections, Pilomatrixoma, Renal dysplasia, Oligozoospermia, Hydronephros... ORPHA:3310
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Cryptorchidism, Hypospadias, Renal cyst OMIM:102500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Pancreatic fibrosis, Ambiguous genitalia, Hamartoma of tongue, Micro... OMIM:263520
Caroli Disease
Polycystic kidney dysplasia, Cholelithiasis, Cholangiocarcinoma ORPHA:53035
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Distal Deletion 12Q
Annular pancreas, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Unilateral ... ORPHA:96149
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Pancreatic fibrosis, Cystic renal dysplasia OMIM:200995
D-Bifunctional Protein Deficiency
Renal cyst, Bile duct proliferation OMIM:261515
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism OMIM:616975
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Hamartoma of tongue, Micropenis OMIM:616546
Syndromic Diarrhea
Panhypogammaglobulinemia, Polycystic kidney dysplasia, Hypoplasia of the thymus, Renal hypoplasia... ORPHA:84064
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosis,... ORPHA:818
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal female external genitalia morphology, Annular pancreas, Hypos... ORPHA:1606
Mpdu1-Cdg
Renal cortical cysts, Decreased response to growth hormone stimulation test ORPHA:79323
Meckel Syndrome
Ureteral duplication, Pancreatic cysts, Male pseudohermaphroditism, True hermaphroditism, Cryptor... ORPHA:564
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Renal cyst, Crypt... ORPHA:495875
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Polycystic kidney dysplasia, Ambiguous ge... OMIM:249000
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Long penis, Hypercalciuria, Nephrocalcinosis, Labial hyper... ORPHA:508
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Hamartoma of tong... ORPHA:2750
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Cholelithiasis, Polycystic kidney dysplasia, Vesicoureteral refl... ORPHA:567
Cutis Marmorata Telangiectatica Congenita
Capillary hemangioma, Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Robinow Syndrome
External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypoplasia, Hydronephrosis, W... ORPHA:97360
Alagille Syndrome 1
Duplicated collecting system, Renal tubular acidosis, Hepatocellular carcinoma, Renal artery sten... OMIM:118450
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Roberts Syndrome
Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Midface capillary hemangioma, Cryp... ORPHA:3103
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Renal cyst, Glycosuria... ORPHA:699
Townes-Brocks Syndrome
Abnormality of the kidney, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagin... ORPHA:857
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Hypoplasia of penis, Hydronephrosis, Cryptorchidism, Multi... ORPHA:1507
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal ductus choledochus morphology, C... ORPHA:480520
Alström Syndrome
Stage 5 chronic kidney disease, Detrusor sphincter dyssynergia, Decreased response to growth horm... ORPHA:64
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr... ORPHA:93271
C Syndrome
Renal hypoplasia/aplasia, Midline facial capillary hemangioma, Female pseudohermaphroditism, Cryp... ORPHA:1308
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst, Bile duct proliferation OMIM:613610
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti... OMIM:610188
Distal Deletion 15Q
Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney, Cryptorchidism, Micro... ORPHA:1596
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Multiple renal cysts, Rectovaginal fistula ORPHA:171929
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Ogden Syndrome
Enlarged kidney, Polycystic kidney dysplasia, Decreased testicular size, Global glomerulosclerosi... OMIM:300855
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Renal cyst, Hydronephrosis, Hepatoblastoma, Embryonal neoplasm, Nep... OMIM:312870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Cryptorchidism, Micropenis OMIM:210710
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Peters Plus Syndrome
Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Multicystic kidney dysplasia, Anteri... ORPHA:709
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Cornelia De Lange Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Hypoplastic nipples, Vesicoureteral reflux... ORPHA:199
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Enlarged labia minora, Polycystic kidney dysplasia, Abnormal external genit... ORPHA:3404
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Cholelithiasis, Biliary hyperplasia ORPHA:567983
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Hyd... OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Branchiooculofacial Syndrome
Hypospadias, Renal cyst, Renal agenesis, Cryptorchidism, Supernumerary nipple, Hamartoma OMIM:113620
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Cryptor... OMIM:134780
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Polycystic kidney dysplasia... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Decreased circula... ORPHA:261537
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Duplication of renal pelvis, Pel... ORPHA:261552
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal dysplas... OMIM:601803
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Cryptorchidism, Multicys... OMIM:308205
Pmm2-Cdg
Abnormal renal tubule morphology, Decreased testicular size, Nephrotic syndrome, Multiple renal c... ORPHA:79318
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... OMIM:164210

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 Pdcd4

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 Pdcd4.

No publications found that use IMPC mice or data for Pdcd4.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pdcd4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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