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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
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... ORPHA:454840
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomy... OMIM:617100
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Autoimmunity, Polycystic ovaries, Proteinuria, Ch... ORPHA:275555
Female Infertility Due To Oocyte Meiotic Arrest
Polycystic ovaries, Abnormal spermatogenesis ORPHA:488191
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... OMIM:617805
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Prot... OMIM:608709
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Birt-Hogg-Dube Syndrome
Multiple lipomas, Fibrofolliculoma, Large intestinal polyposis, Renal cell carcinoma, Renal cyst,... OMIM:135150
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... OMIM:614420
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Bardet-Biedl Syndrome 16
Hypogonadism, Renal dysplasia, External genital hypoplasia, Stage 5 chronic kidney disease, Renal... OMIM:615993
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Msh3-Related Attenuated Familial Adenomatous Polyposis
Papilloma, Stomach cancer, Astrocytoma, Colorectal polyposis, Multiple gastric polyps, Neoplasm o... ORPHA:480536
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Neoplasm of the nose, Stomach cancer, Enlarged polyc... ORPHA:2869
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Ataxia-Telangiectasia
Polycystic ovaries, Neoplasm, Abnormal testis morphology, Decreased circulating antibody level ORPHA:100
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Nephroblastoma, Parathyroid adenoma, Papillary renal cell carcinoma, H... OMIM:145001
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism OMIM:615982
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Cowden Syndrome 1
Breast carcinoma, Decreased circulating antibody level, Hydrocele testis, Fibroadenoma of the bre... OMIM:158350
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis OMIM:613652
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism ORPHA:3085
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Autoimmunity, Neoplasm, Renal insufficiency ORPHA:454
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries ORPHA:79084
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Cowden Syndrome 6
Breast carcinoma, Hydrocele testis, Fibroadenoma of the breast, Meningioma, Transitional cell car... OMIM:615109
Congenital Megacalycosis
Dilatation of renal calices, Tubulointerstitial nephritis, Recurrent urinary tract infections, En... ORPHA:93109
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Autoimmu... OMIM:617006
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... OMIM:228300
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A... ORPHA:2795
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Cowden Syndrome 5
Breast carcinoma, Hydrocele testis, Meningioma, Transitional cell carcinoma of the bladder, Ovari... OMIM:615108
Distal Monosomy 10P
Polycystic ovaries, Hypoplasia of penis, Cryptorchidism ORPHA:1580
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal testis morphology, Sarcoma, Polycystic ovaries, Neoplasm of the thyr... ORPHA:457059
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hepatocellular carcinoma, Renal cyst, Reduced renal... OMIM:619902
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Peutz-Jeghers Syndrome
Breast carcinoma, Ovarian cyst, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple ga... OMIM:175200
Insulin-Resistance Syndrome Type B
Lymphoma, Enlarged polycystic ovaries, Glycosuria, Increased circulating IgG level, Multiple myel... ORPHA:2298
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Carney Complex
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellul... ORPHA:1359
Linear Iga Dermatosis
Renal neoplasm, Autoimmunity, Bladder neoplasm ORPHA:46488
Acquired Generalized Lipodystrophy
Lymphoma, Astrocytoma, Autoimmunity, Polycystic ovaries, Proteinuria ORPHA:79086
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus, Neoplasm, Hematological neoplasm ORPHA:399180
Mccune-Albright Syndrome
Renal phosphate wasting, Macroorchidism, Increased circulating prolactin concentration, Precociou... ORPHA:562
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circulating gonadotro... ORPHA:1772
Cystic Echinococcosis
Abnormality of the testis size, Increased circulating antibody level, Renal cyst, Hepatic cysts, ... ORPHA:400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... ORPHA:90793
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Autoimmunity, Glomerulonephritis, Glomerular C3 depositi... ORPHA:567544
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the ureter, Gonadal dysgenesis ORPHA:1770
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Multicystic kidney dysplasia, Hypoplasia of the bladder, Recurrent urinary tr... OMIM:614527
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Multiple lineage myelodysplasia, Autoimmunity, Myelodysplasia ORPHA:98827
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... ORPHA:329918
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Cortical tubers, Renal angiomyolipoma OMIM:600273
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, Precocious puberty, Incre... ORPHA:90795
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
Thymoma
Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Anti-acetylcholine receptor antibod... ORPHA:99867
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism OMIM:268020
Donohue Syndrome
Clitoral hypertrophy, Ovarian cyst, Precocious puberty, Long penis OMIM:246200
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Stage ... OMIM:603860
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism ORPHA:140976
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Gonadal dysgenesis, male OMIM:231060
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Cryptorchidism, Hydronep... OMIM:613390
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis ORPHA:335
Tuberous Sclerosis 2
Precocious puberty, Astrocytoma, Chordoma, Adenoma sebaceum, Cardiac rhabdomyoma, Renal angiomyol... OMIM:613254
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P... OMIM:193300
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Proteus-Like Syndrome
Hemangioma, Polycystic ovaries, Abnormality of the parathyroid gland, Thymus hyperplasia, Exostos... ORPHA:2969
Estrogen Resistance
Polycystic ovaries, Breast aplasia, Hypoplasia of the uterus OMIM:615363
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Increased circulating antibody level, Autoimmunity, Autoimmune thrombocytopenia, Lympho... OMIM:614470
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephroblastoma, Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Neph... OMIM:194072
Congenital Generalized Lipodystrophy
Precocious puberty in females, Polycystic ovaries, Clitoral hypertrophy, Overgrowth of external g... ORPHA:528
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Bardet-Biedl Syndrome 6
External genital hypoplasia, Vaginal atresia, Hypospadias, Renal cyst OMIM:605231
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Multiple lipomas, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease OMIM:617056
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Cowden Syndrome
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... ORPHA:201
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts, Cryptorchidism ORPHA:1166
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:79085
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... ORPHA:90796
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Polycystic ovaries ORPHA:2348
Tuberous Sclerosis 1
Precocious puberty, Astrocytoma, Chordoma, Adenoma sebaceum, Cardiac rhabdomyoma, Renal angiomyol... OMIM:191100
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Cryptorchidism OMIM:613730
Fibrous Dysplasia Of Bone
Precocious puberty in females, Osteosarcoma, Thyroid carcinoma, Hyperpituitarism, Cutaneous myxom... ORPHA:249
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Abnormal labia majora morphology ORPHA:435660
Short Syndrome
Ovarian cyst OMIM:269880
Joubert Syndrome 20
Renal cyst OMIM:614970
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:435651
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... OMIM:263200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatocellular carcinoma, Polycystic ovaries, Hepatocellular adenoma, Myo... ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatocellular carcinoma, Polycystic ovaries, Hepatocellular adenoma, Myo... ORPHA:370
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Adrenal hyperplasia, Oligospermia, Abnormality of the urinary system, Vesico... ORPHA:95699
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level, Multiple myeloma, Autoimmunity, Syste... ORPHA:48377
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, A... OMIM:137920
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:79083
Verheij Syndrome
Renal cyst, Renal agenesis, Renal hypoplasia OMIM:615583
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria OMIM:610205
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Enlarged kidney, Unilateral renal agenesis OMIM:618188
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Chronic kidney disease, Renal cyst, ... ORPHA:97362
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Fibroma, Uterine leiomyoma, Nephroblastoma, Renal insufficiency, Parat... ORPHA:99880
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys OMIM:613885
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary color, Ly... ORPHA:90033
Mody
Pancreatic hypoplasia, Glycosuria, Abnormality of the kidney, Autoimmune antibody positivity, Ren... ORPHA:552
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Ureteral agenesis, Renal hypoplasia, Renal dysplasia OMIM:236500
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Joubert Syndrome 7
Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611560
Orofaciodigital Syndrome I
Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst, Proteinuria, Hypothal... OMIM:311200
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Fibroma, Uterine leiomyoma, Nephroblastoma, Renal insufficiency, Thyro... ORPHA:143
Mixed-Type Autoimmune Hemolytic Anemia
Lymphoma, Autoimmunity, Autoimmune hemolytic anemia, Abnormal urinary color, Systemic lupus eryth... ORPHA:90036
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Polycystic ovaries, Myoglobinuria, Renal tubular acidosis, Hepatocellular adenoma ORPHA:264580
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche ORPHA:371428
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Renal insufficiency, Hematuria OMIM:611773
Primary Lipodystrophy
Polycystic ovaries ORPHA:90970
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Basal cell c... ORPHA:314473
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hypoplasia of penis, Hypoplasia o... ORPHA:110
Vacterl/Vater Association
Hydronephrosis, Ambiguous genitalia, Multicystic kidney dysplasia, Bifid scrotum, Renal agenesis,... ORPHA:887
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Joubert Syndrome 35
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Fe... ORPHA:2973
Tuberous Sclerosis Complex
Parathyroid adenoma, Cardiac rhabdomyoma, Retinal hamartoma, Renal angiomyolipoma, Stage 5 chroni... ORPHA:805
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Ovarian Fibrothecoma
Fibrosarcoma, Gonadal calcification, Diffuse leiomyomatosis, Abnormality of the ovary, Abnormal e... ORPHA:314478
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Trisomy 13
Hydronephrosis, Capillary hemangioma, Abnormality of the ureter, Multiple renal cysts, Cryptorchi... ORPHA:3378
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency OMIM:614922
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Abnormal localiz... ORPHA:1834
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Axial Osteomalacia
Renal cyst OMIM:109130
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the pancreas, Renal insuffici... ORPHA:93111
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Long penis, Abnormal localization of kidne... ORPHA:1988
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellular carcinoma, Polycystic ovaries, Pr... ORPHA:79259
Meckel Syndrome, Type 10
Renal cyst, Hypospadias, Micropenis OMIM:614175
Bardet-Biedl Syndrome 12
Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Hydronephrosis OMIM:615989
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Ambiguous genitalia, Multicystic kidney dysplasia, Bifid scrotum, Leukemia, Embry... OMIM:257300
Bardet-Biedl Syndrome 17
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Nephronophthisis 1
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... OMIM:256100
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... ORPHA:255249
Nephronophthisis 3
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:604387
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Neoplasm of the skin, Glomerulonephritis, Antinuclear antibody positivi... ORPHA:3261
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V... ORPHA:2237
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Nodular goiter, Au... ORPHA:64744
Coach Syndrome 1
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... OMIM:216360
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... OMIM:606966
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... ORPHA:107
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries ORPHA:280365
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... OMIM:113650
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Shawl scrotum, Renal hypoplasia/aplasia, Pancreatic aplasia, Ureter... ORPHA:261265
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Myelodysplasia ORPHA:1318
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Transverse vaginal septum, Hydro... OMIM:236700
Distal Tetrasomy 15Q
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Hydrocele testis, Horsesh... ORPHA:314588
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hypopla... ORPHA:785
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Midline facial capilla... OMIM:146510
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidism, Megacystis ORPHA:2241
Immunodeficiency 96
Decreased circulating IgA level, Multicystic kidney dysplasia, Decreased circulating total IgM, D... OMIM:619774
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,... OMIM:201750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria OMIM:615398
Meckel Syndrome, Type 6
Absent gallbladder, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Horseshoe kidney... OMIM:612284
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Von Hippel-Lindau Disease
Pancreatic cysts, Elevated urinary catecholamines, Pancreatic endocrine tumor, Renal cell carcino... ORPHA:892
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Trisomy 1Q
Ambiguous genitalia, Multicystic kidney dysplasia, Congenital megaureter, Cryptorchidism, Small s... ORPHA:261344
Vulvovaginal Gingival Syndrome
Abnormality of female external genitalia, Abnormality of tumor necrosis factor secretion ORPHA:83453
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, ... ORPHA:2075
Sjogren Syndrome
Tubulointerstitial nephritis, Autoimmunity, Rheumatoid arthritis OMIM:270150
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent... OMIM:610199
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias OMIM:614091
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis, Cryptorchidism ORPHA:73246
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Bicornuate uterus OMIM:263210
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Spinal cord tumor, Lipoma, Rhabdomyosarcoma ORPHA:35125
Kleefstra Syndrome
Vesicoureteral reflux, Hypoplasia of penis, Supernumerary nipple, Renal cyst, Hypospadias, Crypto... ORPHA:261494
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency ORPHA:445038
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Horseshoe kidney, Cryptorchidism ORPHA:166035
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Lipodystrophy, Congenital Generalized, Type 1
Polycystic ovaries, Labial hypertrophy, Nephrolithiasis, Clitoral hypertrophy OMIM:608594
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... OMIM:231680
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis OMIM:608022
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Multiple small medullary renal cysts, Renal insufficiency, Parathormone-indepen... OMIM:600740
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Lacrimal gland aplasia, Polycystic ovaries, Elevated circulating luteinizing hormon... ORPHA:572333
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, Cryptorchidism ORPHA:2115
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Macroorch... ORPHA:91
Lipodystrophy, Congenital Generalized, Type 2
Polycystic ovaries, Labial hypertrophy, Nephrolithiasis, Clitoral hypertrophy OMIM:269700
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis, Hemangioma ORPHA:1297
Mosaic Trisomy 9
Abnormal fallopian tube morphology, Renal dysplasia, Hypoplasia of penis, Hypoplastic female exte... ORPHA:99776
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydrometrocolpo... ORPHA:2473
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Autoimmune Polyendocrinopathy Type 4
Thymoma, Tubulointerstitial nephritis, Rheumatoid arthritis, Decreased circulating antibody level... ORPHA:227990
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary c... OMIM:613159
Williams Syndrome
Precocious puberty, Abnormality of the bladder, Nephrolithiasis, Vesicoureteral reflux, Hypoplasi... ORPHA:904
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Thymoma, Tubulointerstitial nephritis, Rheumatoid arthritis, Decre... ORPHA:227982
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Cryptorchidism, Clitoral hy... OMIM:214110
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal agenesis OMIM:220500
Digeorge Syndrome
Hypoplasia of the thymus, Renal dysplasia, Hydrocele testis, Unilateral renal agenesis, Parathyro... OMIM:188400
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... ORPHA:18
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Clitoral hypertrophy, Hydronephrosis ORPHA:912
Trisomy 20P
Macroorchidism, Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Multiple renal... ORPHA:261318
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis OMIM:606995
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ki... OMIM:208540
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Urinary retention, Recurrent urinary tract infections, Dysuria, Hyd... ORPHA:79404
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Nephrotic syndrome, Renal cyst, Hypergonadotropic hypogonadism, Decreased c... OMIM:212065
Proteus Syndrome
Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Neoplasm of the central nerv... ORPHA:744
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Congenital megaureter, Decreased circulating total IgM, Renal dysplasia, Rena... ORPHA:369837
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Stomach cancer, Ambiguous genitalia, Multicystic kidney dysplasia, Myelodysplasia... ORPHA:1052
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Sialadenitis, Renal insufficiency, Prostatitis, Increased circu... ORPHA:449432
Cornelia De Lange Syndrome 1
Vesicoureteral reflux, Hypoplastic labia majora, Renal cyst, Reduced renal corticomedullary diffe... OMIM:122470
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... ORPHA:157
Trisomy 17P
Polycystic kidney dysplasia, Hypoplasia of penis, Urethral stenosis, Urethral valve, Hydronephrosis ORPHA:261290
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Small scrotum, Clitoral hypertrophy, Hydronephrosis ORPHA:85201
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Renal cyst, Cryptorchidism, Renal hypoplasia, Hamartoma of tongue OMIM:616300
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... OMIM:613550
Joubert Syndrome 14
Renal cyst OMIM:614424
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Hamartoma of ... OMIM:613091
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... OMIM:608836
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Microphallus, Supernumerary nipple, Renal cyst, Cryptorchidism, Renal hypo... OMIM:618454
Penile Agenesis
Ambiguous genitalia, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cysti... ORPHA:49
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerul... OMIM:267010
Lymphangioleiomyomatosis
Renal angiomyolipoma, Retinal hamartoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multi... ORPHA:538
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polycystic kidney dysplasia, Renal cyst, Hypospadias, Cryptorchidism, Renal cortical microcysts, ... OMIM:614866
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism ORPHA:3301
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Supernumerary nipple ORPHA:1001
Joubert Syndrome 2
Renal cyst, Renal insufficiency, Nephronophthisis, Hypoplastic male external genitalia OMIM:608091
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Nephritis, Renal cyst, Pancreatic fibrosis, Bile duct proliferation, Proteinuri... OMIM:208500
Mosaic Trisomy 1
Renal cyst, Penile hypospadias, Renal cortical cysts, Micropenis ORPHA:1692
Kaposiform Lymphangiomatosis
Pancreatic cysts, Papilloma, Enlarged kidney, Multiple renal cysts, Lymphangioma ORPHA:464329
Pagod Syndrome
Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypoplasia/a... ORPHA:991
Beckwith-Wiedemann Syndrome
Gonadoblastoma, Large intestinal polyposis, Hepatoblastoma, Neoplasm, Nephrolithiasis, Nephroblas... ORPHA:116
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplas... OMIM:130650
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... ORPHA:228308
Schinzel-Giedion Syndrome
Nephroblastoma, Hydronephrosis, Myeloid leukemia, Ependymoma, Hepatoblastoma, Renal cyst, Teratom... ORPHA:798
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Bicornuate uterus, Hypospadias, Cryptorchidi... ORPHA:2059
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Lacticaciduria, Glutaric aciduria, 3-Methylglutaric aciduria, Ethylm... ORPHA:26791
Sweet Syndrome
Acute myeloid leukemia, Breast carcinoma, Chronic lymphatic leukemia, Increased circulating inter... ORPHA:3243
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Posterior pituitary hypoplasia, Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney... ORPHA:464311
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hypogonadism, Decreased testicular size, Supernumerary nipple, Hydr... ORPHA:261349
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Unilateral renal agenesis, Renal cyst, Hypospadias, Micropenis, Pe... ORPHA:464306
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Bifid scrotum, Bicornuate uterus, Renal agenesis, Unilat... OMIM:270400
Marden-Walker Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Abnormal... ORPHA:2461
Arima Syndrome
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polycystic k... OMIM:243910
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Alveolar Echinococcosis
Pancreatic cysts, Increased circulating antibody level, Renal cyst, Abnormality of bladder morpho... ORPHA:284
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Simpson-Golabi-Behmel Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Hydroureter, Hypoplasia of penis, Supernumerary nip... ORPHA:373
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia ORPHA:3015
Joubert Syndrome With Hepatic Defect
Nephropathy, Neoplasm of the liver, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Opitz Gbbb Syndrome
Abnormality of the urinary system, Vesicoureteral reflux, Bicornuate uterus, Bifid scrotum, Shawl... ORPHA:2745
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Bifid ureter, Renal dysplasia, Renal malrotation, Renal cyst OMIM:617107
Khan-Khan-Katsanis Syndrome
Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Ureteral duplication, Hydronephrosis OMIM:618460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Decreased response to growth hormone stimulation test, Renal dysplasia OMIM:617260
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Focal Dermal Hypoplasia
Papilloma, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Giant cell tumor of bone, Hors... ORPHA:2092
Fryns Syndrome
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Renal agenesis, Ectopic pancreatic tissue, Renal... OMIM:229850
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Absent nipple, Renal agenesis... OMIM:200980
Rabson-Mendenhall Syndrome
Precocious puberty, Long penis, Increased pineal volume, Enlarged ovaries, Nephrocalcinosis, Clit... ORPHA:769
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Abnormality of the kidney, Polycystic kidney dysplasia, Multiple glomer... ORPHA:1505
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Joubert Syndrome 1
Renal cyst, Nephropathy OMIM:213300
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Biliary hyperplasia, Recurrent urinary tract infections, Acute kidney injury, E... ORPHA:731
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Acute kidney injury, Renal cys... OMIM:266920
Familial Hypocalciuric Hypercalcemia
Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-independent increa... ORPHA:405
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Floating-Harbor Syndrome
Precocious puberty, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycyst... ORPHA:2044
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Cystic renal dysplasia, Renal hypoplasia, Hypoplastic nipples, Hamartoma of ... OMIM:269860
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts ORPHA:1190
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal dysplasia, Renal hypoplasia/apla... ORPHA:2538
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Glomerulopathy, Aminoaciduria, Nephrocalcinosis, A... ORPHA:534
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Polycystic kidney dysplasia, Pancreatic fibrosis, Hamartoma of tongue, Micro... OMIM:263520
Hajdu-Cheney Syndrome
Renal cyst, Polycystic kidney dysplasia, Hypospadias, Cryptorchidism OMIM:102500
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Pancreatic fibrosis OMIM:200995
D-Bifunctional Protein Deficiency
Renal cyst, Bile duct proliferation OMIM:261515
Syndromic Diarrhea
Hypoplasia of the thymus, Panhypogammaglobulinemia, Polycystic kidney dysplasia, Hepatoblastoma, ... ORPHA:84064
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Renal cyst, Hypospadias, Cryptorchidism, Annular pancreas OMIM:616975
Distal Monosomy 12Q
Vesicoureteral reflux, Polycystic kidney dysplasia, Pituitary adenoma, Ectopic kidney, Unilateral... ORPHA:96149
Tetrasomy 9P
Absent gallbladder, Pilomatrixoma, Renal dysplasia, Recurrent urinary tract infections, Oligosper... ORPHA:3310
Mpdu1-Cdg
Renal cortical cysts, Decreased response to growth hormone stimulation test ORPHA:79323
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasia of penis,... ORPHA:818
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Ambiguous genitalia, female, External genital hypoplasia, Polycystic k... OMIM:249000
Meckel Syndrome
Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, True herma... ORPHA:564
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absent scrotum, Absence of labia majora, Hypoplastic labia minora, Renal cyst, Hypospadias, Crypt... ORPHA:495875
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Multicystic kidney dysplasia, Proteinuria, Odontogenic neoplasm, Renal insuffic... ORPHA:2750
15q26 overgrowth syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Renal agenesis, Du... DECIPHER:81
Caroli Disease
Polycystic kidney dysplasia, Cholangiocarcinoma, Cholelithiasis ORPHA:53035
1P36 Deletion Syndrome
Abnormality of female external genitalia, Hypogonadism, Abnormality of the kidney, Hypoplasia of ... ORPHA:1606
Leprechaunism
Enlarged kidney, Labial hypertrophy, Hypercalciuria, Long penis, Overgrowth of external genitalia... ORPHA:508
22Q11.2 Deletion Syndrome
Vesicoureteral reflux, Hypoplasia of the thymus, Polycystic kidney dysplasia, Autoimmunity, Abnor... ORPHA:567
Cutis Marmorata Telangiectatica Congenita
Capillary hemangioma, Multicystic kidney dysplasia, Displacement of the urethral meatus ORPHA:1556
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... OMIM:118450
Robinow Syndrome
Multicystic kidney dysplasia, External genital hypoplasia, Webbed penis, Hypoplastic labia majora... ORPHA:97360
Fraser Syndrome
Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, Bicornuate uterus, Hypoplasi... ORPHA:2052
Roberts Syndrome
Polycystic kidney dysplasia, Long penis, Midface capillary hemangioma, Cryptorchidism, Clitoral h... ORPHA:3103
Pearson Syndrome
Decreased response to growth hormone stimulation test, Glycosuria, Lacticaciduria, Renal cyst, Pa... ORPHA:699
Townes-Brocks Syndrome
Vesicoureteral reflux, Renal insufficiency, Bifid scrotum, Abnormality of the kidney, Rectoperine... ORPHA:857
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypoplastic female external genitalia, Cryptor... ORPHA:1507
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney ORPHA:500095
Caroli Syndrome
Abnormality of the kidney, Abnormality of the ductus choledochus, Polycystic kidney dysplasia, Ch... ORPHA:480520
Alström Syndrome
Oligospermia, Glomerulonephritis, Recurrent cystitis, Detrusor sphincter dyssynergia, Stage 5 chr... ORPHA:64
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Cryptorchidism, Ren... ORPHA:93271
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Female pseudohermaphroditism, Cryptorchid... ORPHA:1308
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Rectovaginal fistula, Multiple renal cysts ORPHA:171929
Cranioectodermal Dysplasia 2
Renal cyst, Renal insufficiency, Bile duct proliferation OMIM:613610
Cerebrocostomandibular Syndrome
Renal cyst, Horseshoe kidney, Ectopic kidney OMIM:117650
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... OMIM:610188
Jacobsen Syndrome
Annular pancreas, Multicystic kidney dysplasia, Hydronephrosis, Cryptorchidism ORPHA:2308
Simpson-Golabi-Behmel Syndrome, Type 1
Nephroblastoma, Enlarged kidney, Embryonal neoplasm, Supernumerary nipple, Hepatoblastoma, Renal ... OMIM:312870
Townes-Brocks Syndrome 1
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal insufficiency, Bifid scrotum, Renal dy... OMIM:107480
Distal Monosomy 15Q
Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Cryptorchidism, Micro... ORPHA:1596
Ogden Syndrome
Decreased testicular size, Enlarged kidney, Polycystic kidney dysplasia, Hydrocele testis, Global... OMIM:300855
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Renal agenesis, Hypoplastic labia majora, Cryptorchidism, Abnormal r... OMIM:134780
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Renal hypoplasia, Micropenis OMIM:210710
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Multicystic kidney dysplasia, Micropenis, Hydronephrosis OMIM:615287
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion, Biliary hyperplasia, Cholelithiasis ORPHA:567983
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Ulbright-Hodes Syndrome
Enlarged labia minora, Polycystic kidney dysplasia, Cryptorchidism, Renal hypoplasia, Abnormal ex... ORPHA:3404
Peters Plus Syndrome
Hydronephrosis, Renal duplication, Multicystic kidney dysplasia, Anterior hypopituitarism, Renal ... ORPHA:709
Genitopatellar Syndrome
Multicystic kidney dysplasia, Enlarged labia minora, Labial hypoplasia, Cryptorchidism, Small scr... OMIM:606170
Cornelia De Lange Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypoplasia of penis, Hypoplastic labia major... ORPHA:199
Branchiooculofacial Syndrome
Hamartoma, Renal agenesis, Supernumerary nipple, Renal cyst, Hypospadias, Cryptorchidism OMIM:113620
Roberts-Sc Phocomelia Syndrome
Bicornuate uterus, Enlarged labia minora, Polycystic kidney dysplasia, Cavernous hemangioma of th... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Renal duplication, Multicystic kidney dysplasia, Vesicoureteral reflux, Hyd... ORPHA:261537
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, Hypospa... OMIM:308205
Mowat-Wilson Syndrome
Urinary incontinence, Renal duplication, Multicystic kidney dysplasia, Vesicoureteral reflux, Hyd... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Renal duplication, Multicystic kidney dysplasia, Vesicoureteral reflux, Hyd... ORPHA:261552
Pallister-Killian Syndrome
Renal dysplasia, Labial hypoplasia, Aplasia of the upper vagina, Supernumerary nipple, Hypoplasti... OMIM:601803
Pmm2-Cdg
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:79318
Craniofacial Microsomia
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Ureteropelvi... 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.

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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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