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Gene: Ucp2 MGI:109354

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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:
uncoupling protein 2 (mitochondrial, proton carrier)
Synonyms:
N/A

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 Ucp2 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.

The table below shows human diseases associated to Ucp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556

The table below shows human diseases predicted to be associated to Ucp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
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
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Campomelia, Cumming Type
Polycystic liver disease, Short stature, Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function OMIM:600666
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, Nephrotic syndrome, Membranou... OMIM:618999
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... ORPHA:730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst OMIM:615987
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... OMIM:613095
Dystonia 30
Impulsivity, Hypothalamic hamartoma, Compulsive behaviors, Aggressive behavior OMIM:619291
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas ORPHA:2924
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B... OMIM:612284
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... OMIM:615993
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... ORPHA:1318
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Short stature, P... OMIM:208500
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest... OMIM:610199
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... OMIM:608106
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s... ORPHA:79085
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... OMIM:193300
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Bardet-Biedl Syndrome 4
Cryptorchidism, Abnormality of the kidney, Renal cyst, Obesity OMIM:615982
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... ORPHA:100085
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s... ORPHA:435660
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin ORPHA:435651
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... OMIM:145001
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo... ORPHA:398079
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Dysphagia OMIM:613668
Central Precocious Puberty In Male
Aggressive behavior, Pituitary microadenoma, Hypothalamic hamartoma, Attention deficit hyperactiv... ORPHA:649929
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... ORPHA:464329
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Failure to thrive, Short stature, Cholangitis, Rhizomelia, Pa... OMIM:266920
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath... OMIM:617056
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Absence of pubertal development, Central hyp... ORPHA:398069
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Hepatic cysts OMIM:617425
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Renal cyst, Multiple renal cysts, Decreased liver function, Failur... OMIM:614883
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Asplen... ORPHA:564
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Orofaciodigital Syndrome I
Proteinuria, Short stature, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney d... OMIM:311200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity disorder, Im... OMIM:618929
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia, Short stature OMIM:181180
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... ORPHA:805
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Rhizomelia, Ureteral hypoplasia, Periportal fibrosis, Hy... ORPHA:79328
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... ORPHA:79303
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Obsessive-compulsive trait, Hypothalamic hamartoma, Attention deficit hyperactivi... OMIM:619908
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification, Dysphagia OMIM:618317
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pa... ORPHA:2750
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation ORPHA:314621
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification, Motor tics OMIM:615483
Cranioectodermal Dysplasia 1
Hepatomegaly, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chro... OMIM:218330
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin ORPHA:280365
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Short stature, Pancreatic cysts, Dilatation of the renal... OMIM:274000
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Bardet-Biedl Syndrome 6
Hypospadias, Obesity, Renal cyst OMIM:605231
Fanconi Anemia, Complementation Group O
Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis OMIM:613390
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Short stature, Small for gestational age, Cryptorchidism, Chronic... ORPHA:97362
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, H... OMIM:602579
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... OMIM:216360
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism OMIM:613730
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Joubert Syndrome 20
Renal cyst OMIM:614970
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Joubert Syndrome 18
Intrauterine growth retardation, Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney OMIM:614815
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Disinhibition OMIM:618193
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:363717
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Panhypophysitis
Decreased serum testosterone concentration, Decreased circulating cortisol level, Reduced circula... ORPHA:95513
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Hepatocellular adenoma, Renal c... ORPHA:552
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Short stature, ... ORPHA:261265
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Verheij Syndrome
Short stature, Renal agenesis, Small for gestational age, Renal hypoplasia, Renal cyst, Growth de... OMIM:615583
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Dysphagia ORPHA:2822
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Nephro... ORPHA:110
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... OMIM:120330
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... OMIM:614922
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Attention deficit hyperactivity disorder ORPHA:467166
Senior-Boichis Syndrome
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Malformation of the h... ORPHA:84081
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Restlessness, Abnormality of the adrenal glands ORPHA:68
Axial Mesodermal Dysplasia Spectrum
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Re... ORPHA:1834
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Short stature, Renal cyst ORPHA:2031
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:603194
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Femoral-Facial Syndrome
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kid... ORPHA:1988
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst OMIM:614175
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3... ORPHA:445038
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dys... OMIM:614091
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity OMIM:615989
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Dysphagia ORPHA:1947
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... ORPHA:18
Meckel Syndrome, Type 4
Intrauterine growth retardation, Bile duct proliferation, Renal cyst OMIM:611134
Complex Regional Pain Syndrome
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia ORPHA:83452
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Failu... ORPHA:2115
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:143
Vacterl/Vater Association
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Intrauterine growt... OMIM:601346
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... ORPHA:2869
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... OMIM:214110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... OMIM:615398
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... ORPHA:2075
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Agitation OMIM:619046
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... ORPHA:157
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren... OMIM:243910
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... OMIM:608022
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Renal cyst ORPHA:488618
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intrauterine growth retardation ORPHA:73246
Odontochondrodysplasia 1
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... ORPHA:261290
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Short stature, Crypto... ORPHA:912
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... OMIM:614866
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated hepatic transa... OMIM:608836
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short stature, Cryptorchidism, Renal cyst, Horseshoe kidney, Intrauterine growth retardation ORPHA:166035
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Parathyroid ... ORPHA:2237
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... ORPHA:314588
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... OMIM:200995
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short stature, Small for gestational a... OMIM:257300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Hepatic calcification,... ORPHA:228308
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors ORPHA:404440
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:99880
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Failure to thrive in infancy OMIM:618829
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Supernumerary nipple, Crypt... ORPHA:261494
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypto... ORPHA:2473
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proxima... OMIM:212065
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Pancreatic ... ORPHA:699
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Braddock-Carey Syndrome 1
Growth delay, Multicystic kidney dysplasia OMIM:619980
Pallister-Hall Syndrome
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Short stature, Decreased response to growth hor... OMIM:146510
Immunodeficiency 96
Growth delay, Multicystic kidney dysplasia OMIM:619774
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... ORPHA:435638
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:485421
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia OMIM:619562
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd... ORPHA:1297
Cach Syndrome
T2 hypointense thalamus, Dysphagia ORPHA:135
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Atelosteogenesis Type I
Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct morphology, Multiple ren... ORPHA:1190
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchid... ORPHA:464311
Radio-Renal Syndrome
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, Ren... ORPHA:3015
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:157846
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, Bile duct pro... OMIM:261515
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Intraut... OMIM:618460
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Short s... ORPHA:464306
Joubert Syndrome 14
Growth delay, Renal cyst OMIM:614424
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Renal cyst, Horseshoe kidney OMIM:250410
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Joubert Syndrome 2
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis OMIM:608091
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Syndromic Diarrhea
Hepatomegaly, Short stature, Small for gestational age, Splenomegaly, Renal hypoplasia, Abnormali... ORPHA:84064
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia ORPHA:254930
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Short stature, Supernumerary nipple, Obesity, Nephroblastoma ORPHA:1001
Alagille Syndrome 1
Duplicated collecting system, Elevated hepatic transaminase, Failure to thrive, Hepatocellular ca... OMIM:118450
Trisomy 1Q
Cryptorchidism, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal c... ORPHA:99776
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Anterior hypopituitarism, Hypogonadotropi... ORPHA:478
Mosaic Trisomy 1
Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias ORPHA:1692
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Short stature, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Decreased serum estradiol, D... ORPHA:2959
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Obesity ORPHA:261197
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Short stature, Ectopic kidney, Cryptorchidism, Abnormal renal morpholog... OMIM:122470
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Abnormality of the uri... ORPHA:369837
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Growth delay, Intr... ORPHA:261349
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short stature, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... OMIM:618454
Congenital Disorder Of Deglycosylation 2
Hypothalamic hamartoma, Dysphagia OMIM:619775
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... ORPHA:2538
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Renal cortical cysts OMIM:609180
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Genitopatellar Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Short stature, Hydronephrosis ORPHA:85201
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal thalamus morphology, Abnormal repetitive mannerisms ORPHA:300570
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ureter, Renal dys... OMIM:617107
Distal Deletion 12Q
Unilateral cryptorchidism, Short stature, Failure to thrive in infancy, Ectopic kidney, Pituitary... ORPHA:96149
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Renal cyst OMIM:213300
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Rena... OMIM:270400
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhi... OMIM:613610
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Japanese Encephalitis
Inappropriate antidiuretic hormone secretion, Focal T2 hyperintense thalamic lesion, Abnormal tha... ORPHA:79139
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Large for gestation... OMIM:229850
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Short stature, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Intrauterine growt... OMIM:616975
Hajdu-Cheney Syndrome
Short stature, Hypospadias, Cryptorchidism, Renal cyst, Polycystic kidney dysplasia, Failure to t... OMIM:102500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Rhizomelia, Renal hypoplasia, Renal cyst OMIM:616300
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Renal hypoplasia, Periportal fibrosis, Hypoplastic nipples, Intrauter... OMIM:269860
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Large for gestational age, Cryptorchidism, Splenomegaly, Abno... ORPHA:116
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Short stature, Small for gestational age, Postnatal gr... ORPHA:1596
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Adenoma sebaceum, Renal cyst OMIM:191100
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts... OMIM:130650
C Syndrome
Hepatomegaly, Short stature, Cryptorchidism, Renal cortical cysts, Failure to thrive OMIM:211750
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba... OMIM:613254
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Short stature, Small for gestational age, Cryptorchidism, Dilatation... ORPHA:2044
Histiocytoid Cardiomyopathy
Hepatomegaly, Failure to thrive, Renal cyst, Polycystic ovaries ORPHA:137675
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia ORPHA:3301
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:2059
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume ORPHA:370959
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Aggressive behavior ORPHA:83597
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Abnormality of the sp... ORPHA:1606
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Short stature, Supernumerary nip... ORPHA:397715
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Failure to thrive in infancy, Abnormality of the urete... ORPHA:798
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts ORPHA:79323
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:263520
Meckel Syndrome 14
Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Ureteral duplication, Hypoplasia of penis, Hypospadia... ORPHA:373
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:845
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... ORPHA:2092
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... OMIM:200980
Trisomy 10P
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Growth delay, Multiple ... ORPHA:171929
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Multicystic kidney dysplasia, Short stature ORPHA:1393
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Short stature, Cryptorchid... ORPHA:534
Cerebrocostomandibular Syndrome
Postnatal growth retardation, Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Short stature, Rhizomelia, Renal ... ORPHA:818
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Renal cyst OMIM:615636
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:506
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Enlarged l... ORPHA:449432
Pagod Syndrome
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen,... ORPHA:991
Aceruloplasminemia
Diabetes mellitus, Abnormal thalamic MRI signal intensity ORPHA:48818
Jacobsen Syndrome
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Growth delay, Intrauterine growth re... ORPHA:2308
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... ORPHA:500095
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Intrauterine growth retardation ORPHA:1556
Hajdu-Cheney Syndrome
Hepatomegaly, Short stature, Hypospadias, Splenomegaly, Multiple renal cysts, Delayed puberty, Fa... ORPHA:955
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Short stature, Growth delay, Intrauterine growth retardation, Nephr... ORPHA:1052
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Disproportionate short stature, Renal hypoplasia, Renal cyst, Severe postnatal gr... OMIM:210710
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Short stature, Cryptorchidism, Splenomegaly, Renal hypoplasia, O... ORPHA:567
Ogden Syndrome
Global glomerulosclerosis, Short stature, Postnatal growth retardation, Cryptorchidism, Jaundice,... OMIM:300855
Spondylocarpotarsal Synostosis Syndrome
Disproportionate short-trunk short stature, Renal cyst OMIM:272460
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Failure to thrive, Short stature OMIM:300373
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma ORPHA:538
Robinow Syndrome
Multicystic kidney dysplasia, Short stature, Small for gestational age, Cryptorchidism, Webbed pe... ORPHA:97360
Roberts Syndrome
Postnatal growth retardation, Cryptorchidism, Long penis, Severe intrauterine growth retardation,... ORPHA:3103
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Disproportionate short-limb sh... ORPHA:1507
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia OMIM:616546
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... ORPHA:93271
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... ORPHA:3310
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma ORPHA:2754
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
C Syndrome
Multicystic kidney dysplasia, Short stature, Failure to thrive in infancy, Renal hypoplasia/aplas... ORPHA:1308
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... ORPHA:709
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal insufficiency, Short statur... ORPHA:199
Femoral-Facial Syndrome
Renal agenesis, Short stature, Abnormal renal collecting system morphology, Cryptorchidism, Polyc... OMIM:134780
Williams Syndrome
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... ORPHA:904
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... OMIM:312870
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma OMIM:277170
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Hypospadias, Renal cyst ORPHA:495875
Ulbright-Hodes Syndrome
Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Birth ... ORPHA:3404
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Lon... ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Decreased testicular size, Micropenis OMIM:615287
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic hormone deficienc... ORPHA:672
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Small for gestati... OMIM:107480
Norrie Disease
Diabetes mellitus, Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed pub... ORPHA:649
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, ... OMIM:113620
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Short statu... OMIM:308205
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Fraser Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Cryptorchidism, Renal hypoplasia,... ORPHA:2052
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Postnatal growth retardation, Cryptorchidism, Long penis, Biliary ... OMIM:268300
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Short... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature... ORPHA:261552
Genitopatellar Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydronephrosis, Micropenis OMIM:606170
Pallister-Killian Syndrome
Hypospadias, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic limb shortening, Cryptorchidi... OMIM:601803
Pmm2-Cdg
Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Ab... 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 Ucp2

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 Ucp2.

No publications found that use IMPC mice or data for Ucp2.

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
Ucp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ucp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ucp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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