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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
Neoplasm, Sarcoma OMIM:267730
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Preeclampsia
Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidney disease, Polycystic ovaries,... ORPHA:275555
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Familial Adenomatous Polyposis 4
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Renal cyst, Multiple l... OMIM:135150
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Ataxia-Telangiectasia
Decreased circulating antibody level, Neoplasm, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Cowden Syndrome 1
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... OMIM:158350
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Acquired Ichthyosis
Renal insufficiency, Autoimmunity, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma ORPHA:454
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries ORPHA:79084
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:3085
Cowden Syndrome 6
Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr... OMIM:615109
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot p... OMIM:617006
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... OMIM:228300
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:280356
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Cowden Syndrome 5
Goiter, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydrocele testis, Meningioma, Th... OMIM:615108
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Peutz-Jeghers Syndrome
Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Enlarged polycystic ovaries... ORPHA:2869
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Autoimmunity, Increased circulating IgA level, Enlarged polycystic... ORPHA:2298
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... ORPHA:480536
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abnormality of the ureter, Breast carcinoma, Hamartomatous polyposis, O... OMIM:175200
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Linear Iga Dermatosis
Renal neoplasm, Autoimmunity, Bladder neoplasm ORPHA:46488
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Acquired Generalized Lipodystrophy
Astrocytoma, Proteinuria, Autoimmunity, Lymphoma, Polycystic ovaries ORPHA:79086
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Gonadal dysgenesis, Abnormality of the ureter, Polycystic ovaries ORPHA:1770
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Cystic Echinococcosis
Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, Increased circu... ORPHA:400
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Autoimmunity, Microscopic hematuria, ... ORPHA:567544
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Multiple lineage myelodysplasia, Autoimmunity, Myelodysplasia ORPHA:98827
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Ovarian Hyperstimulation Syndrome
Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... ORPHA:64739
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Hematological neoplasm, Systemic lupus erythematosus, Neoplasm, Rheumatoid arthritis ORPHA:399180
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Renal salt wasting, Increa... ORPHA:90795
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Gonadoblastoma
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... ORPHA:206484
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Precocious puberty, Absence of renal cor... OMIM:613254
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
Thymoma
Autoimmunity, Neoplasm of head and neck, Glomerulonephritis, Anti-acetylcholine receptor antibody... ORPHA:99867
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Hemangioma, Subcuta... ORPHA:2969
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoproliferative disorder, Autoimmunity, Autoimmune thrombocytopenia, Lymphoma, Increased circ... OMIM:614470
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Precocious puberty in females, Clitoral hypertrophy, Polycystic... ORPHA:528
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:79085
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries OMIM:604367
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Polycystic ovaries ORPHA:2348
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... OMIM:191100
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... ORPHA:201
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Gonadoblastoma, Abnormality of th... OMIM:194072
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst OMIM:610475
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
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
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Cidec-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:435651
Short Syndrome
Ovarian cyst OMIM:269880
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Abnormal ovarian morphology, Vesicoureteral reflux, Micr... ORPHA:95699
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries ORPHA:79083
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... ORPHA:220460
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism, Unilateral renal agenesis OMIM:618188
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arth... ORPHA:48377
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, ... ORPHA:90033
Orofaciodigital Syndrome I
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Ovarian cyst, Hypothalamic hamartoma, Polycys... OMIM:311200
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:99880
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Lymphoma, Systemic lupus eryth... ORPHA:90036
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:143
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... ORPHA:887
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Polycystic ovaries ORPHA:79240
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Capillary hemangioma, Displaceme... ORPHA:3378
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Myoglobinuria, Polycystic ovaries ORPHA:264580
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... ORPHA:93111
Axial Osteomalacia
Renal cyst OMIM:109130
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Ambiguous genitalia, Clitoral hypertrophy, Hypospadias, Elevat... ORPHA:90797
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia OMIM:615989
Mody
Abnormality of the kidney, Autoimmune antibody positivity, Renal cyst, Glycosuria, Nephropathy, P... ORPHA:552
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... ORPHA:1988
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenes... ORPHA:2237
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarc... OMIM:257300
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase anti... ORPHA:64744
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Thyroid carcinoma, Decreased circula... ORPHA:3261
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries ORPHA:280365
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Polycystic ovaries, Nephrocalcinosi... ORPHA:79259
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts, Myelodysplasia ORPHA:1318
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Increased circulating interferon... ORPHA:158061
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... ORPHA:314588
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response to growth hormone stimulatio... OMIM:146510
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Immunodeficiency 96
Decreased circulating total IgM, Multicystic kidney dysplasia, Decreased circulating IgG level, D... OMIM:619774
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Hydronephrosis, Rectova... OMIM:236700
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Aplasia of the bla... OMIM:612284
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Epidermal Nevus Syndrome
Lipoma, Polycystic kidney dysplasia, Spinal cord tumor, Rhabdomyosarcoma ORPHA:35125
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Vulvovaginal Gingival Syndrome
Abnormality of female external genitalia, Abnormality of tumor necrosis factor secretion ORPHA:83453
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Sjogren Syndrome
Tubulointerstitial nephritis, Autoimmunity, Rheumatoid arthritis OMIM:270150
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia OMIM:614091
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidism, Megacystis ORPHA:2241
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Renal cyst OMIM:602579
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Anti-thyroid peroxidase antibody positivity, Renal cyst, Polycystic kidney dysp... OMIM:610199
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... ORPHA:261344
Lipodystrophy, Congenital Generalized, Type 1
Labial hypertrophy, Nephrolithiasis, Clitoral hypertrophy, Polycystic ovaries OMIM:608594
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Rena... ORPHA:261494
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... ORPHA:2075
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Lipodystrophy, Congenital Generalized, Type 2
Labial hypertrophy, Nephrolithiasis, Clitoral hypertrophy, Polycystic ovaries OMIM:269700
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Branchio-Oculo-Facial Syndrome
Hemangioma, Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1297
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Autoimmune Polyendocrinopathy Type 4
Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, Autoimmune th... ORPHA:227990
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Parathyroi... OMIM:188400
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple ... ORPHA:99776
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Autoimmune Polyendocrinopathy Type 3
Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimmunity, Autoimmune hy... ORPHA:227982
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Ureteral atresia, Stage 5 chronic kid... OMIM:208540
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy... OMIM:212065
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:912
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Decreased c... ORPHA:369837
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Clitoral hy... OMIM:214110
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Autoimmunity, Increased circulating IgG4 level, Abnormality of the kidney, P... ORPHA:449432
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... OMIM:122470
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasi... OMIM:613091
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... OMIM:608836
Joubert Syndrome 14
Renal cyst OMIM:614424
Lymphangioleiomyomatosis
Renal neoplasm, Abnormal urinary color, Retinal hamartoma, Renal angiomyolipoma, Hematuria, Multi... ORPHA:538
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... OMIM:618454
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Joubert Syndrome 2
Renal insufficiency, Nephronophthisis, Renal cyst, Hypoplastic male external genitalia OMIM:608091
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... ORPHA:744
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Supernumerary nipple ORPHA:1001
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia OMIM:616300
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic nipples, Polycystic kidney dysplasia, Renal ... OMIM:614866
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Pancreatic fibrosis, Proteinuria, Pancreatic cysts, Chronic kidney disease, ... OMIM:208500
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Ependymoma, Annular pancreas,... ORPHA:798
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... ORPHA:26791
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphobla... ORPHA:1052
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... ORPHA:464311
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Agonadism, Abnormality of the uterus, Amb... ORPHA:991
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Papilloma, Enlarged kidney ORPHA:464329
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Hematological neoplasm... ORPHA:3243
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Renal cyst... ORPHA:464306
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephroblastoma, Rhabdomyosarcoma, Adrenocortical carcinoma, Cryptorchidism,... ORPHA:116
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Adrenocortical carcinoma, Cryptorchidism, Pancreatic hyperplasi... OMIM:130650
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Hypogonadism, Hydr... ORPHA:261349
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Duplicated collecting system, Small scrotum, H... OMIM:270400
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Alveolar Echinococcosis
Pancreatic cysts, Renal cyst, Increased circulating antibody level, Abnormal bladder morphology, ... ORPHA:284
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Nephroblast... ORPHA:373
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Ap... OMIM:200980
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormality of t... ORPHA:2745
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Papilloma, Giant cell t... ORPHA:2092
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp... OMIM:229850
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Long penis, Nephrocalcinosis, Increased pineal volume, Clit... ORPHA:769
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... OMIM:266920
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Renal hypoplasia, Hypoplastic nipples, Ambiguous genitalia, Cystic renal dys... OMIM:269860
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt... ORPHA:405
Meckel Syndrome 14
Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... ORPHA:2044
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts ORPHA:1190
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Perinea... ORPHA:2538
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancreatic cysts, O... ORPHA:731
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Glomerulopathy, Hyperparathyroidism, Renal insuffi... ORPHA:534
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hamartoma of tongue, Polycystic kidney dysplasia, Ambiguous genitalia, Micro... OMIM:263520
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia, Hamartoma of tongue OMIM:616546
D-Bifunctional Protein Deficiency
Bile duct proliferation, Renal cyst OMIM:261515
Syndromic Diarrhea
Renal hypoplasia, Hypoplasia of the thymus, Polycystic kidney dysplasia, Hepatoblastoma, Panhypog... ORPHA:84064
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Pilomatr... ORPHA:3310
Hajdu-Cheney Syndrome
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts ORPHA:79323
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Distal Deletion 12Q
Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Micropenis, Polycystic kidney dyspl... ORPHA:96149
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annular pancreas OMIM:616975
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hamartoma of tongue, Pancreatic c... ORPHA:2750
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Facial capillary hemangioma, Rena... ORPHA:818
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hypercalciuri... ORPHA:508
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Cryptorchidism, Ambiguous... OMIM:249000
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Capillary hemangioma ORPHA:1556
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Pa... ORPHA:564
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Annular pancreas, Re... ORPHA:1606
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Autoimmunity, Cryptorchidism, Renal hypoplasia, Hypoplasia of th... ORPHA:567
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... ORPHA:495875
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla... ORPHA:97360
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Pancreatic fibrosis, Decreased response to growth hormon... ORPHA:699
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Re... ORPHA:2052
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Midface capillary hemangioma, Clitoral h... ORPHA:3103
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormality of the kidney... ORPHA:857
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypoplastic female external ge... ORPHA:1507
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Alström Syndrome
Recurrent urinary tract infections, Recurrent cystitis, Precocious puberty in females, Decreased ... ORPHA:64
Caroli Disease
Cholelithiasis, Polycystic kidney dysplasia ORPHA:53035
Trisomy 10P
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Rectovaginal fistula ORPHA:171929
Cranioectodermal Dysplasia 2
Renal insufficiency, Bile duct proliferation, Renal cyst OMIM:613610
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Renal cyst, Renal ... ORPHA:93271
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Midline facial capillary hemangioma, Cryp... ORPHA:1308
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Jacobsen Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Annular pancreas, Hydronephrosis ORPHA:2308
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Hepat... OMIM:312870
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro... ORPHA:1596
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Micropenis OMIM:210710
Ogden Syndrome
Global glomerulosclerosis, Cryptorchidism, Hydrocele testis, Polycystic kidney dysplasia, Decreas... OMIM:300855
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Hypoplastic labia ma... OMIM:134780
Caroli Syndrome
Abnormal ductus choledochus morphology, Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Cholelithiasis, Abnormality of cytokine secretion ORPHA:567983
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Decreased testicular size OMIM:615287
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Cryptorchidi... ORPHA:199
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... ORPHA:3404
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... OMIM:606170
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Supernumerary nipple, Cryptorchidism, Renal cyst, Hamartoma OMIM:113620
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Cavernous hemangioma of the face, Long penis,... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... ORPHA:261537
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A... ORPHA:2152
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, C... ORPHA:261552
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia m... OMIM:601803
Pmm2-Cdg
Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating growth hormone concentration, Ne... ORPHA:79318
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, 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.

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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