Gene Summary

Name:
phosphatidylethanolamine binding protein 1
Synonyms:
Pbpr,  Pebp1,  Pbp1,  RKIP,  Raf-1 inhibitor protein

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Pebp1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Pebp1em1(IMPC)Tcp HOM Late adult 0.00
cataract Pebp1em1(IMPC)Tcp HOM   Late adult 3.77×10-09
abnormal ovary morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
abnormal epididymis morphology Pebp1em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Pebp1em1(IMPC)Tcp HOM Late adult 5.58×10-07
abnormal liver morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
small spleen Pebp1em1(IMPC)Tcp HOM Late adult 0.00
small kidney Pebp1em1(IMPC)Tcp HOM Late adult 0.00
abnormal seminal vesicle morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
abnormal gallbladder morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
decreased bone mineral density Pebp1em1(IMPC)Tcp HOM Early adult 3.40×10-05
abnormal heart morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

29 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

11 Images

Gross Pathology and Tissue Collection

Images

8 Images

Histopathology

Images

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Pebp1 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 Pebp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Aural Atresia, Congenital
Hyposmia OMIM:607842
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Cogni... ORPHA:846
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Anosmia, Deviated nasal septum, Wide nasal bridge OMIM:600679
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopenia, Hepatitis, Irritability, Anemi... ORPHA:848
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadism OMIM:615270
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Apolipoprotein A-I Deficiency
Corneal opacity, Anemia, Splenomegaly, Abnormality of the liver, Lymphadenopathy ORPHA:425
Hyperbiliverdinemia
Green urine, Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Cholelithiasis, Jaund... OMIM:613470
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Jaundice, Normo... OMIM:222800
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholelithiasis, Normocytic anemia, Jaundice, No... OMIM:235700
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nasal septum, Short nose, Depressed nasal bridge OMIM:302950
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase ... ORPHA:53035
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Galactosemia Ii
Prolonged neonatal jaundice, Cataract, Galactosuria OMIM:230200
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the lymph nodes, Decreased proportion of CD4-positive he... ORPHA:543
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Cholecystitis OMIM:266200
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular volume, Leukocytosis, Hepatoce... ORPHA:231222
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis, Microcytic anemia ORPHA:79278
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Norm... OMIM:611881
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Cholelithiasis, Giant cell hepatitis OMIM:214980
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Cataract, Splenomegaly ORPHA:79238
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Sickle Cell Anemia
Hematuria, Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Myotonic Dystrophy 1
Hypogonadism, Cataract, Testicular atrophy, Cholelithiasis OMIM:160900
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Chronic active hepatitis, Cholelithiasis, Keratoconjunctivitis, Female hypogon... OMIM:240300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate amino... OMIM:614876
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Chol... OMIM:232800
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hemolytic anemia, Cholelithiasis OMIM:177000
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency, Aminoaciduria ORPHA:2278
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Bardet-Biedl Syndrome 18
Cognitive impairment, Renal insufficiency, Cataract OMIM:615995
Senior-Loken Syndrome
Nephronophthisis, Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic ... ORPHA:3156
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Hepatomegaly, Cataract, Ectopic kidney OMIM:613730
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, ... ORPHA:210122
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Secundum atr... OMIM:156810
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Aplasia/Hypoplas... ORPHA:1381
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibr... ORPHA:30391
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract OMIM:607906
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Cholelithiasis, Double outlet right ventricl... OMIM:614886
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia OMIM:610628
46,Xx Testicular Disorder Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Sialuria
Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Memory impairment, Hepatosplenomegaly ORPHA:3166
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Memory impairment, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Pancreatic Colipase Deficiency
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Dark urine, Chole... ORPHA:521219
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jau... OMIM:615512
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Distal Trisomy 5Q
Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H... ORPHA:96097
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypospadias, Annular pancreas, Hypoplas... OMIM:601346
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Psychomotor deterioration, Nuclear cataract, Hepatomegaly, Catara... ORPHA:79237
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Polysplenia, Abnormal pericardium morphology, Te... ORPHA:1335
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Primary Sclerosing Cholangitis
Cirrhosis, Renal insufficiency, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute he... ORPHA:171
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Alg2-Cdg
Cognitive impairment, Cataract, Iris coloboma ORPHA:79326
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphol... ORPHA:3032
Galactosemia I
Cirrhosis, Hemolytic anemia, Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Hepatome... OMIM:230400
Cimdag Syndrome
Developmental cataract, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly, Hypogonadism OMIM:619273
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepat... ORPHA:400
Laurence-Moon Syndrome
Cryptorchidism, Iris coloboma, Cataract, Congenital hepatic fibrosis, Hypoplasia of penis, Renal ... ORPHA:2377
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H... ORPHA:96092
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anosmia, Pyriform aperture stenosis, Choanal atresia, Midnasal s... OMIM:147250
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cognitive impairment, Cataract, Hypertrophic cardiomyopathy OMIM:615418
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Thrombocytopenia, Normochromic a... OMIM:618775
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Horseshoe kidney, Single ventricle, Truncus arteriosus, Ven... OMIM:601186
Lcat Deficiency
Hematuria, Hemolytic anemia, Corneal opacity, Hepatomegaly, Splenomegaly, Renal insufficiency, Ly... ORPHA:650
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cataract, Cirrhosis, Cholestasis OMIM:609313
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract, 3-Methylglutaconic aciduria, Decreased liver f... ORPHA:67048
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia OMIM:147950
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Mesenteric cyst, Gonadal calcification, Ovarian fibroma ORPHA:314473
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Lathosterolosis
Horseshoe kidney, Elevated hepatic transaminase, Ambiguous genitalia, male, Intrahepatic cholesta... OMIM:607330
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Cholestasis, M... OMIM:267010
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Basel-Vanagaite-Smirin-Yosef Syndrome
Developmental cataract, Atrial septal defect, Aggressive behavior, Ventricular septal defect, Cho... ORPHA:464738
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 4
Iris hypopigmentation, Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly ORPHA:79095
Cerebrotendinous Xanthomatosis
Dementia, Cataract, Cholelithiasis OMIM:213700
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Brushfield spots, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hep... OMIM:614866
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Cholelithiasis ORPHA:171876
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Metachromatic Leukodystrophy
Dementia, Hemobilia, Emotional lability, Urinary incontinence, Abnormal gallbladder morphology, N... ORPHA:512
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers OMIM:602450
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:290
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Ventricular septal defect, Cataract, Hypoplastic left heart,... ORPHA:2772
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Pink urine, Cholelithiasis, Corneal scarring, Conjunctivitis, Thrombocytopenia,... OMIM:263700
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Bicuspid aortic valv... OMIM:618955
Triploidy
Cryptorchidism, Ambiguous genitalia, Iris coloboma, Hepatomegaly, Cataract, Abnormality of the pa... ORPHA:3376
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Ureterovesical stenosis, Micropenis OMIM:268650
Galactosemia
Cryptorchidism, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cataract, Hepat... ORPHA:352
Trisomy 8P
Cryptorchidism, Heterochromia iridis, Aplasia/Hypoplasia of the gallbladder, Hydronephrosis, Tetr... ORPHA:264450
Grfoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97261
Johnson Neuroectodermal Syndrome
Anosmia, Choanal atresia, Bulbous nose ORPHA:2316
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Abnormal heart morphology, Hepatocellular adenoma, Hepa... ORPHA:370
Wagr Syndrome
Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Displacement of th... ORPHA:893
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Precocious puberty, Polycystic ovaries ORPHA:2229
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormal testis morphology, Abnormality of the lymph nodes, Abnorm... ORPHA:54251
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Ventricular... ORPHA:2255
Cach Syndrome
Progressive neurologic deterioration, Renal hypoplasia, Apathy, Cataract, Irritability, Pancreati... ORPHA:135
22Q11.2 Deletion Syndrome
Cryptorchidism, Vesicoureteral reflux, Corneal neovascularization, Abnormality of the tonsils, Mu... ORPHA:567
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Polyc... ORPHA:275555
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Biliary tract abnormality, Hepatic fibrosis, Cataract, Vaginal atresia,... OMIM:209900
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Brushfield spots, Abnormal heart morphology, Aminoaciduria, Intrahepatic biliary ... OMIM:214110
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Multicystic kidney dysplasia, Gonadal dysgen... ORPHA:2075
Ppoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97278
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Cirrhosis, Hematuria, Microcytic anemia, Cholelithiasis, Hepatic fai... ORPHA:774
Refsum Disease, Classic
Anosmia OMIM:266500
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Leukocytosis, Intrahepatic cholestasis, Conjunctival ic... ORPHA:480520
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... OMIM:607361
Johnson Neuroectodermal Syndrome
Anosmia, Choanal stenosis OMIM:147770
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Cor pulmonale, Lymph node hypoplasia, Enteroviral hepatitis, Conjuncti... OMIM:300755
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia of the... ORPHA:100
Congenital Fibrinogen Deficiency
Developmental cataract, Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy,... ORPHA:335
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Polycystic ovaries ORPHA:1643
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Hepatomegaly, Hypoplastic nipples, Decreased liver function, Splenomegaly OMIM:618268
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cataract, Urinary excretion of sial... OMIM:256550
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Mitral valve calcification, Corneal opacity, Cholelithiasis, Hepatic fibrosis, Pancy... ORPHA:2072
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Ventricular septal defect,... OMIM:600001
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Abnormality of the endometrium, Gonadal calcification, Ova... ORPHA:314478
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Abnormal heart valve morphology, Acute promyelocytic leuk... ORPHA:77293
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia OMIM:308700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries, Cataract, Decreased testicula... ORPHA:3085
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Prot... OMIM:608709
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:79292
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level, Male hypogonadism OMIM:240950
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Atrial septal defect ORPHA:89844
Zellweger Syndrome
Cryptorchidism, Brushfield spots, Ventricular septal defect, Clitoral hypertrophy, Posterior embr... ORPHA:912
Classic Galactosemia
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cataract, Anxiety, Hepatic... ORPHA:79239
Meckel Syndrome, Type 6
Abnormal internal genitalia, Hepatic fibrosis, Cystic liver disease, Renal cyst, Bile duct prolif... OMIM:612284
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Cataract, Splenomegaly OMIM:608885
Craniofacioskeletal Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hydronephrosis, Hypospadias, Abs... OMIM:300712
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Steinfeld Syndrome
Absent gallbladder, Iris coloboma, Abnormal heart morphology OMIM:184705
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Cataract, External genital hypoplasia ORPHA:363741
Transketolase Deficiency
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Self-injurious behavi... ORPHA:488618
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary incontinence, Urinary retention, A... ORPHA:2795
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Renal insufficiency, Car... ORPHA:699
Alg8-Cdg
Cataract, Hepatic failure ORPHA:79325
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Thrombo... OMIM:617053
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Hydronephrosis... ORPHA:163979
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Jaundice, Hypersplenism, Renal insufficiency, Enlarged kidney, Periportal fi... ORPHA:731
Steinert Myotonic Dystrophy
Male hypogonadism, Mental deterioration, Elevated hepatic transaminase, Aggressive behavior, Dila... ORPHA:273
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cataract, Decreased liver function, Opacif... OMIM:251290
Refsum Disease
Anosmia ORPHA:773
Digeorge Syndrome
Truncus arteriosus, Ventricular septal defect, Posterior embryotoxon, Unilateral renal agenesis, ... OMIM:188400
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Underdeveloped nasal alae, Wide nose ORPHA:284160
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse, Nephropathy, Cataract, Pulmonary lymphangiectasia, Renal insufficiency, Hy... OMIM:247410
Hereditary Bullous Dystrophy, Macular Type
Cryptorchidism, Abnormal heart morphology, Corneal opacity, External genital hypoplasia, Cataract... ORPHA:1867
Cerebrotendinous Xanthomatosis
Aggressive behavior, Abnormal atrial septum morphology, Cholelithiasis, Prolonged neonatal jaundi... ORPHA:909
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Bifid scro... ORPHA:887
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Reduced... OMIM:618723
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Cataract, Nephrocalcinosis, Neurogenic bladder OMIM:617370
Bohring-Opitz Syndrome
Cholelithiasis, Urinary retention, Cardiomegaly, Abnormal cardiac septum morphology, Annular panc... ORPHA:97297
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Cataract, Uterine leiomyoma, Vaginal neoplasm ORPHA:523
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Joubert Syndrome 9
Hepatic fibrosis, Cataract, Astigmatism, Stage 5 chronic kidney disease OMIM:612285
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Elevated hepatic transaminase, Aggressive behavior, Jaundice, Cataract OMIM:608093
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Corneal opacity, Hypercalciuria, Megalocornea, V... ORPHA:904
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Myoglobinuri... ORPHA:264580
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Biliary hyperplasia, Cholelithiasis, Hepatomegaly, Peri... ORPHA:83617
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Klatskin Tumor
Extrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Septate vagina, Tetralogy of Fallot, Uterus didelphys, Ab... OMIM:617925
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
Dubin-Johnson Syndrome
Abnormal urinary color, Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of the liver ORPHA:234
Norrie Disease
Shallow anterior chamber, Aggressive behavior, Dementia, Hypoplasia of the iris, Cataract, Opacif... OMIM:310600
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Cataract OMIM:601794
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Single naris, Hyposmia, Absent nares ORPHA:2250
Peters-Plus Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Iris coloboma,... OMIM:261540
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly, Cardiomyopathy ORPHA:90970
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... OMIM:612964
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Abnormality of the ureter, Abnormality of the gallb... ORPHA:2869
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, ... ORPHA:90301
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Atrial septal defect, Bifid scrotum, Ventricular septal defect, Abnormality of th... OMIM:145410
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Abnormality of the parathyroid gland, Cataract, Splenom... ORPHA:2969
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Abnormal spermatoge... OMIM:228300
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Subcapsular cataract, Elevated hepatic transaminase, Polycystic o... OMIM:268020
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Gaucher Disease Type 1
Cirrhosis, Hematuria, Pericardial effusion, Biliary tract obstruction, Hepatomegaly, Pancytopenia... ORPHA:77259
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Hypertrophic car... ORPHA:2348
16P12.1P12.3 Triplication Syndrome
Skin-picking, Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morpholog... ORPHA:485405
Donohue Syndrome
Ovarian cyst, Long penis, Cholestasis, Hepatic fibrosis, Clitoral hypertrophy, Precocious puberty... OMIM:246200
Kallmann Syndrome
Anosmia, Hyposmia ORPHA:478
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Accessory spleen, Situs inversus totalis, ... ORPHA:564
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity, Rapid neurologic deterioration, Hepatomegaly, Cataract, S... ORPHA:585
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Precocious puberty in females, Ov... ORPHA:528
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dementia... OMIM:203700
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Tetralogy of Fallot, Iris coloboma, Overriding aorta ORPHA:3186
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Hyper... ORPHA:79083
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Septo-Optic Dysplasia Spectrum
Anosmia ORPHA:3157
Trisomy 10P
Absent gallbladder, Multiple renal cysts, Rectovaginal fistula, Abnormal heart morphology ORPHA:171929
Metachromatic Leukodystrophy, Adult Form
Dementia, Cholecystitis, Emotional lability, Urinary incontinence, Progressive psychomotor deteri... ORPHA:309271
Holoprosencephaly
Depressed nasal tip, Anosmia, Choanal atresia, Hyposmia, Depressed nasal ridge, Aplasia/Hypoplasi... ORPHA:2162
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Decreased t... OMIM:612885
Meckel Syndrome, Type 4
Bile duct proliferation, Atrial septal defect, Renal cyst, Ventricular septal defect OMIM:611134
Tetrasomy 9P
Cryptorchidism, Multiple renal cysts, Horseshoe kidney, Pericarditis, Oligospermia, Abnormal mitr... ORPHA:3310
Alpha-Mannosidosis, Adult Form
Oligosacchariduria, Corneal opacity, Pancytopenia, Cataract, Anxiety, Hepatosplenomegaly ORPHA:309288
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Alagille Syndrome 1
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal artery stenosis, Cirrhosis, Ca... OMIM:118450
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Warburg Micro Syndrome 2
Cryptorchidism, Developmental cataract, Scrotal hypoplasia, Cataract, Hypoplastic labia majora, M... OMIM:614225
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:610688
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
Mccune-Albright Syndrome
Ovarian cyst, Renal phosphate wasting, Hyperplasia of the Leydig cells, Elevated circulating grow... ORPHA:562
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Cardiomyopathy, Neutropenia, Cataract, Renal cy... ORPHA:445038
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Aminoaciduria, Cholestasis, Emot... OMIM:124000
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Interlobular bile duct destruction, Interface hepatitis, Elevated hepatic transaminase... ORPHA:562639
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Biliary tract a... OMIM:175200
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge ORPHA:251066
Ring Chromosome 13 Syndrome
Abnormal renal physiology, Ambiguous genitalia, Urogenital sinus anomaly, Bifid scrotum, Hypospad... ORPHA:96176
Fucosidosis
Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Micropenis, Ambiguous genitalia... ORPHA:1772
Agel Amyloidosis
Deficit in phonologic short-term memory, Lattice corneal dystrophy, Abnormal spleen morphology, C... ORPHA:85448
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Accessory spleen, Ambiguous genitalia, male, Malformat... OMIM:249000
Fanconi Anemia, Complementation Group Q
Biliary atresia, Bone marrow hypocellularity OMIM:615272
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Decreased numbers of nephrons, ... OMIM:137920
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Po... OMIM:269700
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis, Polycystic ovaries OMIM:604367
Microsporidiosis
Peritonitis, Prostatitis, Endocarditis, Lymphadenitis, Myocarditis, Decreased proportion of CD4-p... ORPHA:2552
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... OMIM:612310
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Po... OMIM:608594
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Atrial septal defect, Chordee, Ventricular septal defect, Clitoral hypertrophy, Iris c... OMIM:309801
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia OMIM:609136
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Floating-Harbor Syndrome
Cryptorchidism, Joint laxity, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, ... OMIM:136140
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Elevated circulating luteinizing hormone level, Increased circulating gonadotropin ... ORPHA:90793
Zttk Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Unilateral renal agenesis, Pol... OMIM:617140
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Microcornea, Sclerocornea, Hypospadias, Precocious puberty OMIM:615877
Hereditary Late-Onset Parkinson Disease
Hyposmia ORPHA:411602
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries, Cardiomyopath... ORPHA:79086
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal testis morphology, Abnormal penis morphology, Polycystic ovaries, Testicular neo... ORPHA:457059
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Ch... ORPHA:100085
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Anosmia, Choanal atresia OMIM:603457
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Cat Eye Syndrome
Biliary atresia, Total anomalous pulmonary venous return, Iris coloboma, Abnormal heart morphology OMIM:115470
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cranioectodermal Dysplasia 2
Renal insufficiency, Atrial septal defect, Elevated hepatic transaminase, Polysplenia, Biliary ci... OMIM:613610
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Iris coloboma, Polycystic ovaries, Pterygium, Do... ORPHA:371428
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Alport Syndrome 2, Autosomal Recessive
Hematuria, Anterior lenticonus, Corneal erosion, Cataract, Stage 5 chronic kidney disease, Nephro... OMIM:203780
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Cataract, Microcornea, Micropenis OMIM:610125
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Chro... OMIM:208500
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Female pseudohermaphroditism OMIM:613546
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Lymphopenia, Cataract, Ovarian carcinoma, Varicocele OMIM:158350
Meningioma
Abnormality of the sense of smell ORPHA:2495
Stromme Syndrome
Accessory spleen, Iris coloboma, Bilateral renal hypoplasia, Peters anomaly, Cataract, Hydronephr... OMIM:243605
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Cataract, Varicocele OMIM:615109
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Amoebiasis Due To Free-Living Amoebae
Hyposmia ORPHA:68
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Cowden Syndrome 5
Hydrocele testis, Cataract, Goiter, Ovarian cyst OMIM:615108
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Biliary hyperplasia, Glycosuria, Jaundice, Renal tubula... OMIM:210550
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Zimmermann-Laband Syndrome 1
Long penis, Hepatomegaly, Cataract, Splenomegaly, Nephrolithiasis, Cardiomyopathy OMIM:135500
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cor pulmonale, Biliary cirrhosis, Shawl ... OMIM:219721
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Long penis, Premature pubarche, Ambiguous genitalia, female, Renal salt wast... ORPHA:90795
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Ambiguous genitalia, male, Hyperg... ORPHA:90796
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Cryptorchidism, Elevated hepatic transaminase, Renal hypoplasia, Unilateral renal a... OMIM:614527
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Carney Complex
Pituitary growth hormone cell adenoma, Ovarian cyst, Increased urinary cortisol level, Elevated c... ORPHA:1359
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Absent external genitalia, Cataract, Vaginal ... OMIM:273395
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatomegaly, Renal cyst, Splenome... OMIM:261515
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Small scrotum, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pancytop... OMIM:613658
Primary Biliary Cholangitis
Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Hepatic fibrosis, Jaundice, Hepatitis, He... ORPHA:186
Congenital Tufting Enteropathy
Corneal erosion, Punctate keratitis, Cataract, Irritability, Cholestatic liver disease ORPHA:92050
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Cirrhosis, Thrombocytopenia, Horseshoe kidney, Urethral stenosis, Bone marrow hyp... OMIM:305000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatocellular carcinoma, H... ORPHA:79259
Orofaciodigital Syndrome I
Ovarian cyst, Abnormal heart morphology, Hepatic cysts, Pancreatic cysts, Hepatic fibrosis, Polyc... OMIM:311200
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Abnormality of the ovary, Increased circulating gonadotropin level, Elevated hepatic t... ORPHA:99413
Turner Syndrome
Cirrhosis, Abnormality of the ovary, Increased circulating gonadotropin level, Elevated hepatic t... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Abnormality of the ovary, Increased circulating gonadotropin level, Elevated hepatic t... ORPHA:99228
Monosomy X
Cirrhosis, Abnormality of the ovary, Increased circulating gonadotropin level, Elevated hepatic t... ORPHA:99226
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Nephrolithiasis ORPHA:722
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... ORPHA:64739
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Unilateral renal agenesis, Abs... ORPHA:500150
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Ambiguous genitalia, Atrial septal defect, Ventricular septal defect, Atrioventri... ORPHA:818
Histiocytoid Cardiomyopathy
Congenital aphakia, Ventricular septal defect, Corneal opacity, Polycystic ovaries, Hepatomegaly,... ORPHA:137675
Charge Syndrome
Anosmia, Choanal atresia, Depressed nasal bridge ORPHA:138
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Chordee, Cataract, Aortic valve stenosis, Bicuspid aortic valve, Hypospa... OMIM:176690
Townes-Brocks Syndrome
Cryptorchidism, Iris coloboma, Rectovaginal fistula, Vesicoureteral reflux, Renal insufficiency, ... ORPHA:857
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Ambiguous genitalia, Elevated circulating luteinizing hormone level, Oligospermia... ORPHA:95699
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Ventricular septal defect, Autoimmune hemolytic anemia, Hypoplasia of the thy... ORPHA:436252
Wolf-Hirschhorn Syndrome
Cryptorchidism, Atrial septal defect, Abnormal heart valve morphology, Abdominal situs inversus, ... ORPHA:280
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Congenital posterior urethral valve, Hypospadias, Precocious pub... ORPHA:2044
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Familial Adenomatous Polyposis
Goiter, Biliary tract obstruction, Pancreatitis, Neoplasm of the gallbladder, Pancreatic adenocar... ORPHA:733
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Polycystic kidney dysplasia OMIM:263100
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Endometrial carcinoma, Pancreatic adenocarcinoma ORPHA:454840
Blau Syndrome
Pericarditis, Abnormal salivary gland morphology, Nephropathy, Cataract, Keratitis, Stage 5 chron... ORPHA:90340
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Atrial septal defect, Horseshoe kidney, Accessory spleen, Long penis, Ventricular... OMIM:268300
Sarcoidosis
Hypercalciuria, Decreased liver function, Leukopenia, Anemia, Renal insufficiency, Abnormality of... ORPHA:797
Charge Syndrome
Anosmia, Choanal atresia, Posterior choanal atresia OMIM:214800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Hypernatriuria, Am... ORPHA:90794
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Cryptorchidism, Ambiguous genitalia, Renal hypoplasia, Cataract, Congenit... ORPHA:93271
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver physiology, Chroni... ORPHA:64
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Precocious puberty in females, H... ORPHA:249
Neurofibroma
Enlargement of parotid gland, Abnormal biliary tract morphology ORPHA:252183

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 Pebp1

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 Pebp1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Pebp1em1(IMPC)Tcp PMC8163790

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MGI Allele Allele Type Produced
Pebp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pebp1em1(IMPC)Tcp Exon Deletion Mice, Tissue

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