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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Myofibromatosis, Fibroma OMIM:228550
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Astrocytom... OMIM:617100
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... OMIM:608709
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Renal insufficiency OMIM:615987
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Abnormal scrotal rugation, Abnormal male internal genitalia morphology, Abnormal m... ORPHA:2138
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Renal cyst, Multiple lipomas, Large ... OMIM:135150
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Hematocolpos, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Preeclampsia
Chronic kidney disease, Acute kidney injury, Autoimmunity, Renal insufficiency, Polycystic ovarie... ORPHA:275555
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Abnormality of the... ORPHA:2869
Ataxia-Telangiectasia
Decreased circulating antibody level, Neoplasm, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino... OMIM:145001
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of the kidney OMIM:615982
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of the breast,... OMIM:158350
Acquired Ichthyosis
Lymphoma, Autoimmunity, Renal insufficiency, Neoplasm, Sarcoma, Multiple myeloma ORPHA:454
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:3085
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries ORPHA:79084
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of the breast,... OMIM:615109
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... ORPHA:2795
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... OMIM:617006
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Cowden Syndrome 5
Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Ovarian cyst, Hydrocele testis, Hamarto... OMIM:615108
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Bladder polyp, Uterine neoplasm, Abnormality of the ureter, Ovarian c... OMIM:175200
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Lymphoma, Systemic lupus erythematosus, Autoimmunity, Polycystic ovaries, ... ORPHA:2298
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst 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
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Multiple renal cyst... ORPHA:220460
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Linear Iga Dermatosis
Renal neoplasm, Autoimmunity, Bladder neoplasm ORPHA:46488
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Acquired Generalized Lipodystrophy
Lymphoma, Autoimmunity, Polycystic ovaries, Proteinuria, Astrocytoma ORPHA:79086
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Neoplasm, Hematological neoplasm ORPHA:399180
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia OMIM:614209
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Increased circulating prolactin concentration, Goite... ORPHA:562
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Cystic Echinococcosis
Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Increased circulating antibody level... ORPHA:400
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Autoimmunity, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Increased urinary 11-deoxycorticosterone level, Clitoral hypertrophy, Long pe... ORPHA:90795
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers OMIM:600273
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonado... ORPHA:64739
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Autoimmunity, Renal hypoplasia/aplasia ORPHA:3375
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Ovarian cyst OMIM:246200
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis ORPHA:335
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Gonadal dysgenesis, male OMIM:231060
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Tuberous Sclerosis 2
Precocious puberty, Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphan... OMIM:613254
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Rena... OMIM:613390
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
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
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Polycystic ovaries... ORPHA:2969
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Autoimmunity, Increased circulating antibody level, Leukemia, Lymphoproliferative disor... OMIM:614470
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... ORPHA:2970
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Renal cell c... OMIM:193300
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis 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, Renal cyst, External genital hypoplasia, Hypospadias OMIM:605231
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Abnormality of the kidney, Adenoma ... ORPHA:201
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Cryptorchidism, Renal hypoplasia/aplasia ORPHA:1166
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Multiple lipomas, Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney ORPHA:276280
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Polycystic ovaries ORPHA:2348
Tuberous Sclerosis 1
Precocious puberty, Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Re... OMIM:191100
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Fibrous Dysplasia Of Bone
Precocious puberty in females, Thyroid carcinoma, Ovarian cyst, Hyperpituitarism, Elevated circul... ORPHA:249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, 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)
Renal cyst, Multiple renal cysts OMIM:614883
Short Syndrome
Ovarian cyst OMIM:269880
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Abnormal female e... ORPHA:95699
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Polycystic ovaries, Myoglobinuria, Hepatocellular adenoma, Hepatocellular... ORPHA:79240
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Enlarged kidney, Ovarian cyst OMIM:618188
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:79083
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Hypoplasia of the uterus, Glycosuria, Pancreatic hyp... OMIM:137920
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Th... ORPHA:99880
Orofaciodigital Syndrome I
Hamartoma of tongue, Hepatic cysts, Ovarian cyst, Proteinuria, Hypothalamic hamartoma, Pancreatic... OMIM:311200
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:90033
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Mixed-Type Autoimmune Hemolytic Anemia
Lymphoma, Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Autoimmune hemolyti... ORPHA:90036
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Myoglobinuria, Renal tubular acidosis, Polycystic ovaries ORPHA:264580
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal par... ORPHA:143
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal... ORPHA:887
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Abnormality of the kidney, Ang... ORPHA:805
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi... ORPHA:2973
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Abnormal endometrium mor... ORPHA:314478
Trisomy 13
Abnormal morphology of female internal genitalia, Capillary hemangioma, Abnormality of the ureter... ORPHA:3378
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ... 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
Neoplasm of the skin, Systemic lupus erythematosus, Increased circulating IgE level, Increased ci... ORPHA:3261
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Polycystic ovaries, Nephrolithiasis, Proteinuri... ORPHA:79259
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Axial Osteomalacia
Renal cyst OMIM:109130
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycystic... ORPHA:1988
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Renal agenesis, Horseshoe... 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
Multicystic kidney dysplasia, Leukemia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst... OMIM:257300
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Vesicoureter... ORPHA:2237
Bardet-Biedl Syndrome 17
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis OMIM:615583
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Bardet-Biedl Syndrome
Chronic kidney disease, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Horseshoe kidney, Dec... ORPHA:110
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... OMIM:113650
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts, Myelodysplasia ORPHA:1318
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries ORPHA:280365
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ... OMIM:236700
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Multicystic kidney dysplasia, D... OMIM:619774
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp... OMIM:201750
Mody
Nephropathy, Glycosuria, Pancreatic hypoplasia, Renal cyst, Abnormality of the kidney, Hepatocell... ORPHA:552
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Endolymphatic sac tumor, Elevated urinary catecholamine level, Panc... ORPHA:892
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Neoplasm of the heart, Cryptorchidism ORPHA:2241
Epidermal Nevus Syndrome
Lipoma, Rhabdomyosarcoma, Polycystic kidney dysplasia, Spinal cord tumor ORPHA:35125
Meckel Syndrome, Type 6
Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Renal cyst, Abnormal... OMIM:612284
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... OMIM:146510
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ambiguous genitalia,... ORPHA:261344
Kleefstra Syndrome
Supernumerary nipple, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Hydronephrosis,... ORPHA:261494
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity OMIM:270150
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal... ORPHA:2075
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis ORPHA:73246
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Cryptorchidism ORPHA:166035
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Lipodystrophy, Congenital Generalized, Type 1
Labial hypertrophy, Clitoral hypertrophy, Nephrolithiasis, Polycystic ovaries OMIM:608594
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Renal cyst, Anti-thyroid peroxidase antibody positivity, Pancreatic cysts,... OMIM:610199
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Autoimmune Polyendocrinopathy Type 4
Thymoma, Rheumatoid arthritis, Anterior pituitary dysgenesis, Autoimmunity, Decreased circulating... ORPHA:227990
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism ORPHA:2115
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Autoimmune Polyendocrinopathy Type 3
Thymoma, Rheumatoid arthritis, Anterior pituitary dysgenesis, Autoimmunity, Autoimmune hypoparath... ORPHA:227982
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Renal hypo... ORPHA:2473
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Williams Syndrome
Cryptorchidism, Polycystic ovaries, Precocious puberty, Cholelithiasis, Renal insufficiency, Rena... ORPHA:904
Lipodystrophy, Congenital Generalized, Type 2
Labial hypertrophy, Clitoral hypertrophy, Nephrolithiasis, Polycystic ovaries OMIM:269700
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hemangioma, Renal agenesis ORPHA:1297
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Renal insufficiency, Ovarian c... OMIM:188400
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Cryptorchidis... ORPHA:99776
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Igg4-Related Thyroid Disease
Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circulating IgG4 leve... ORPHA:64744
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... ORPHA:79404
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Zellweger Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Hydronephrosis, Hypospadias ORPHA:912
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ... 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)
Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Hypoplasia of the thymus, Polycystic kidney ... OMIM:214110
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Proximal tubulopathy, Decreased circulating IgA level, Proteinur... OMIM:212065
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Hyperechoge... OMIM:208540
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia,... ORPHA:1052
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... ORPHA:157
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
Renal hypoplasia, Hypoplastic male external genitalia, Reduced renal corticomedullary differentia... OMIM:122470
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Abnormal... ORPHA:449432
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Decreased circulating Ig... ORPHA:369837
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Crypt... OMIM:618454
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormal morphology of female internal genitalia, Ungual fibroma, Pulmona... ORPHA:538
Genitopatellar Syndrome
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Hydronephrosis ORPHA:85201
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Renal dysplasi... OMIM:613091
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Hamartoma of tongue, Cryptorchidism, Renal cyst, Ambiguous genitalia OMIM:616300
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency, Hypoplastic male external genitalia OMIM:608091
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple ORPHA:1001
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Pancreat... OMIM:267010
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral duplication, Poly... OMIM:608836
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Clitoral hypertrophy, Cryptorchidism, Renal cyst, Hypoplastic nipples, Polycystic ki... OMIM:614866
Joubert Syndrome 14
Renal cyst OMIM:614424
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism ORPHA:3301
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Visceral angiomatosis, Neoplasm of the c... ORPHA:744
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel... ORPHA:228308
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Pancreatic fibro... OMIM:208500
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Cryptorchidism, Hydronephrosis, Renal cyst, Micropenis, P... ORPHA:464311
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Abnormal pancreas morphology, Nephroblastoma, Leiomy... ORPHA:116
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Bicornuate u... ORPHA:2059
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Breast hypoplasia, Cryptorchidism, Hydronephrosis, Renal ... ORPHA:464306
Schinzel-Giedion Syndrome
Annular pancreas, Abnormality of the ureter, Streak ovary, Ependymoma, Teratoma, Nephroblastoma, ... ORPHA:798
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylm... ORPHA:26791
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney, Papilloma ORPHA:464329
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Decreased testicular size, Hydr... ORPHA:261349
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Smith-Lemli-Opitz Syndrome
Precocious puberty, Unilateral renal agenesis, Renal hypoplasia, Small scrotum, Renal agenesis, B... OMIM:270400
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Alveolar Echinococcosis
Hepatic cysts, Increased circulating antibody level, Abnormal bladder morphology, Renal cyst, Pan... ORPHA:284
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Neoplasm of the liver ORPHA:1454
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Opitz Gbbb Syndrome
Abnormality of the urinary system, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hydronep... ORPHA:2745
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst, Renal dysplasia OMIM:617260
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Supernumerary nipple, Increased circulating IgE level,... ORPHA:373
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Fryns Syndrome
Ectopic pancreatic tissue, Renal agenesis, Bifid scrotum, Cryptorchidism, Hydronephrosis, Renal c... OMIM:229850
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Papillo... ORPHA:2092
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Uterus didelphys, Aplasia of the bladder, Abnormality of the urete... 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
Precocious puberty, Nephrocalcinosis, Long penis, Clitoral hypertrophy, Enlarged ovaries, Increas... ORPHA:769
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... OMIM:266920
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney OMIM:606232
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Peri... ORPHA:2538
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis,... ORPHA:2044
Atelosteogenesis Type I
Multiple renal cysts, Abnormal pancreatic duct morphology ORPHA:1190
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia 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
Renal hypoplasia, Hamartoma of tongue, Hypoplastic nipples, Ambiguous genitalia, Cystic renal dys... OMIM:269860
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Hyperparathyroidism, Nephrocalcinosis, Neoplasm of the skin, Odontogenic neoplasm,... ORPHA:534
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency OMIM:617478
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Systemic lupus erythematosus, Absent gallbl... ORPHA:3310
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Cryptorchidism, Renal cyst OMIM:102500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hamartoma of tongue, Ambiguous genitalia, Pancreatic fibrosis, Micropenis, Polycystic kidney dysp... OMIM:263520
Caroli Disease
Cholelithiasis, Polycystic kidney dysplasia, Cholangiocarcinoma ORPHA:53035
Distal Deletion 12Q
Annular pancreas, Pituitary adenoma, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micro... ORPHA:96149
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Enlarged kidney, Cystic renal dysplasia OMIM:200995
D-Bifunctional Protein Deficiency
Renal cyst, Bile duct proliferation OMIM:261515
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Renal cyst, Hypospadias OMIM:616975
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia OMIM:616546
Syndromic Diarrhea
Renal hypoplasia, Panhypogammaglobulinemia, Hypoplasia of the thymus, Hepatoblastoma, Polycystic ... ORPHA:84064
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Clitoral hypertrophy, Facial capil... ORPHA:818
1P36 Deletion Syndrome
Annular pancreas, Abnormal female external genitalia morphology, Hypogonadism, Cryptorchidism, Hy... ORPHA:1606
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts ORPHA:79323
Meckel Syndrome
Multicystic kidney dysplasia, Cryptorchidism, True hermaphroditism, Male pseudohermaphroditism, A... ORPHA:564
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Absent scrotum, Cryptorchidism, Renal cyst, Absence of labia majora, Hypoplastic lab... ORPHA:495875
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the uterus, Abnormality of the ureter, ... OMIM:249000
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hype... ORPHA:508
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Odontogenic neoplasm, Hamartoma of tongue, Renal insufficiency, Pro... ORPHA:2750
22Q11.2 Deletion Syndrome
Renal hypoplasia, Cholelithiasis, Abnormality of the uterus, Autoimmunity, Vesicoureteral reflux,... ORPHA:567
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Capillary hemangioma, Displacement of the urethral meatus ORPHA:1556
Robinow Syndrome
Webbed penis, Small scrotum, Multicystic kidney dysplasia, External genital hypoplasia, Cryptorch... ORPHA:97360
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
C Syndrome
Clitoral hypertrophy, Renal cortical cysts, Cryptorchidism OMIM:211750
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, Midface capillary hemangioma, Polycystic kidney... ORPHA:3103
Pearson Syndrome
Glycosuria, Decreased response to growth hormone stimulation test, Renal insufficiency, Proteinur... ORPHA:699
Townes-Brocks Syndrome
Renal hypoplasia, Rectovaginal fistula, Abnormal vagina morphology, Abnormality of the uterus, Bi... ORPHA:857
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplastic female external genitalia, Cryptorchidism, Hydronephros... ORPHA:1507
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Caroli Syndrome
Abnormal ductus choledochus morphology, Polycystic kidney dysplasia, Cholangiocarcinoma, Abnormal... ORPHA:480520
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Testicular fibrosis, Precocious puberty i... ORPHA:64
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hyperechogenic kidneys, Supernumerary nipple, Renal cortical cysts, Renal insufficiency, Hypospad... ORPHA:397715
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Uterus didelphys, Cryptorchidism, Hydronephrosis, Renal cyst, Ambiguous genital... ORPHA:93271
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Female pseudohermaphroditism, Cryptorchidism, Mid... ORPHA:1308
Cranioectodermal Dysplasia 2
Renal cyst, Renal insufficiency, Bile duct proliferation OMIM:613610
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Distal Deletion 15Q
Multicystic kidney dysplasia, Cryptorchidism, Micropenis, Abnormal localization of kidney, Hyposp... ORPHA:1596
Trisomy 10P
Rectovaginal fistula, Multiple renal cysts, Absent gallbladder, Abnormality of the kidney ORPHA:171929
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Annular pancreas, Cryptorchidism ORPHA:2308
Ogden Syndrome
Decreased testicular size, Cryptorchidism, Global glomerulosclerosis, Hydrocele testis, Polycysti... OMIM:300855
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Bifid scrotum, Renal insuff... OMIM:107480
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Supernumerary nipple, Embryonal neoplasm, Cryptorchidism, Nephroblas... OMIM:312870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Cryptorchidism, Renal cyst, Micropenis, Polycystic kidney dysplasia OMIM:210710
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Peters Plus Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Renal duplication, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Vesicoureteral reflux, Renal insufficien... ORPHA:199
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor... ORPHA:3404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Genitopatellar Syndrome
Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Enlarged labia minora, Cryptor... OMIM:606170
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Abnormality of cytokine secretion ORPHA:567983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Decreased testicular size, Multicystic kidney dysplasia, Micropenis OMIM:615287
Branchiooculofacial Syndrome
Renal agenesis, Supernumerary nipple, Cryptorchidism, Renal cyst, Hamartoma, Hypospadias OMIM:113620
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Cryptorchidism, Hypoplastic labia ma... OMIM:134780
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Horseshoe kidney, Cavernous hemangioma of the face, Enlarged la... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Bifid scrotum, Septate vagina, Decreased circulating ... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Bifid scrotum, Septate vagina, Decreased circulating ... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Bifid scrotum, Septate v... ORPHA:261552
Pallister-Killian Syndrome
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasi... OMIM:601803
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Hypospad... OMIM:308205
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperplastic labia majora, Decreased testicular si... ORPHA:79318
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... 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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