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Gene: Pebp1 MGI:1344408

Gene Summary

Name:

phosphatidylethanolamine binding protein 1

Synonyms:

RKIP, Pbp1, Pebp1, Pbpr, Raf-1 inhibitor protein

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal ovary morphology	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
enlarged lymph nodes	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal gallbladder morphology	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
small kidney	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased eosinophil cell number	Pebp1^em1(IMPC)Tcp	HOM	Late adult	5.94×10^-05
decreased bone mineral density	Pebp1^em1(IMPC)Tcp	HOM	Early adult	3.40×10^-05
abnormal skin morphology	Pebp1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal liver morphology	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
cataract	Pebp1^em1(IMPC)Tcp	HOM	Late adult	9.48×10^-05
abnormal heart morphology	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
small spleen	Pebp1^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased exploration in new environment	Pebp1^em1(IMPC)Tcp	HOM	Late adult	5.58×10^-07
abnormal epididymis morphology	Pebp1^em1(IMPC)Tcp	HOM	Early adult	0.00

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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.

Histopathology

Images

25 Images

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Eye Morphology

Images Ophthalmoscopy

29 Images

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Gross Pathology and Tissue Collection

Images

11 Images

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X-ray

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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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.

Human diseases associated with Pebp1 (0 diseases)
Human diseases predicted to be associated with Pebp1 (335 diseases)

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	Matching phenotypes	Source
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Musk, Inability To Smell	Anosmia	OMIM:254150
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester...	OMIM:600803
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia	OMIM:300752
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Depression, Cholestatic liver dise...	ORPHA:79095
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Bifid nose	OMIM:614838
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia	OMIM:617885
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia	ORPHA:79278
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size	ORPHA:1875
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:612702
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:610628
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hemolytic anemia	OMIM:177000
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:605479
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia	OMIM:613724
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia	OMIM:602079
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Attention deficit hyperactivity ...	ORPHA:3166
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy	OMIM:160900
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Pancreatic Colipase Deficiency	Megaloblastic anemia, Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ...	OMIM:232800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Peroxisome Biogenesis Disorder 9B	Anosmia, Total anosmia	OMIM:614879
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po...	OMIM:602347
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cataract, Female hypogonadism, Chronic active hepatitis, Asplenia, Keratoconj...	OMIM:240300
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:244200
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Hyperostosis Cranialis Interna	Hyposmia, Anosmia	OMIM:144755
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Atrial septal defect, Renal tubular dysfunction, Abnormality of th...	OMIM:614886
Crigler-Najjar Syndrome Type 1	Memory impairment, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia	OMIM:614880
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:614897
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Anosmia, Choanal atresia	OMIM:147950
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel...	ORPHA:521219
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disea...	OMIM:612284
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Bardet-Biedl Syndrome 19	Hyposmia	OMIM:615996
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Cimdag Syndrome	Hepatomegaly, Microvesicular hepatic steatosis, Developmental cataract, Hypogonadism, Cholelithiasis	OMIM:619273
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge	OMIM:210745
Pentalogy Of Cantrell	Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Poly...	ORPHA:1335
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia o...	ORPHA:96092
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Tetra...	ORPHA:1381
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn...	ORPHA:3032
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal d...	OMIM:613730
3-Methylglutaconic Aciduria Type 4	Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia...	ORPHA:67048
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the g...	ORPHA:96097
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Gorlin Syndrome	Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Corneal scarring, Conjunctivit...	OMIM:263700
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Decreased liver function, Cholestasis	ORPHA:570422
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan...	ORPHA:54251
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Huntington Disease	Abnormality of the sense of smell	ORPHA:399
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary	ORPHA:314473
Alpha-Methylacyl-Coa Racemase Deficiency	Abnormality of the liver, Cataract, Hypergonadotropic hypogonadism, Depression	OMIM:614307
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Low frustration tolerance, Cholelithiasis, Micropenis, Decreased testicular size	OMIM:300534
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Splenomegaly, Jaundice, Throm...	ORPHA:290
Laurence-Moon Syndrome	Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, ...	ORPHA:2377
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis	ORPHA:171876
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili...	OMIM:267010
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal gallbladder morphology, Hemobilia, Dementia, Neoplasm of the gallb...	ORPHA:512
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Lathosterolosis	Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac...	OMIM:607330
Galactosemia I	Hepatomegaly, Hemolytic anemia, Cataract, Hypergonadotropic hypogonadism, Elevated circulating as...	OMIM:230400
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hepatosplenome...	ORPHA:79237
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Developmental cataract, Microcornea, Male urethral meatus...	ORPHA:464738
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect,...	ORPHA:567
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Cerebrotendinous Xanthomatosis	Cholelithiasis, Cataract, Dementia	OMIM:213700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, ...	ORPHA:774
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept...	ORPHA:2255
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Bardet-Biedl Syndrome 17	Hyposmia, Anosmia	OMIM:615994
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Hepatomegaly, Precocious puberty, Myopic astigmatism, Hepatosplenomegaly, C...	OMIM:301066
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Astigmatism, Recurrent pancreatitis, Hypop...	OMIM:618268
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Abnormality of the panc...	ORPHA:3376
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine a...	OMIM:618805
Johnson Neuroectodermal Syndrome	Bulbous nose, Anosmia, Choanal atresia	ORPHA:2316
Kleine-Levin Syndrome	Parosmia	ORPHA:33543
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Trisomy 8P	Abnormal atrioventricular connection, Cryptorchidism, Annular pancreas, Abnormal left ventricle m...	ORPHA:264450
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Ventricular septal defect, Sclerocornea, Unilateral re...	OMIM:188400
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:308700
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Aniridia, Micropenis	OMIM:602361
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Corneal opacity, Splenomegaly, Abnormality of the splee...	ORPHA:2072
Kufor-Rakeb Syndrome	Hyposmia, Anosmia	OMIM:606693
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Cor pulmonale, Neutropenia, Lymph node hypoplasia, T lymphoc...	OMIM:300755
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp...	OMIM:617053
Polyendocrine-Polyneuropathy Syndrome	Abnormality of the sense of smell	OMIM:616113
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Refsum Disease, Classic	Anosmia	OMIM:266500
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality...	ORPHA:314478
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal...	OMIM:600001
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hypogonadism-Cataract Syndrome	Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level	OMIM:240950
Kallmann Syndrome With Spastic Paraplegia	Anosmia	OMIM:308750
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Cerebrotendinous Xanthomatosis	Short attention span, Progressive psychomotor deterioration, Abnormal atrial septum morphology, D...	ORPHA:909
Metachromatic Leukodystrophy, Adult Form	Short attention span, Urinary incontinence, Progressive psychomotor deterioration, Depression, Em...	ORPHA:309271
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m...	ORPHA:2075
8Q21.11 Microdeletion Syndrome	Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell	ORPHA:284160
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne...	OMIM:614377
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Atr...	ORPHA:163979
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Short attention span, Hypergonadotropic hyp...	ORPHA:273
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Throm...	ORPHA:77259
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Confusion, Depression, Hepatosplenomegaly, Oligosacchari...	ORPHA:309288
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic...	OMIM:251290
Refsum Disease	Anosmia	ORPHA:773
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Perimembranous ventr...	ORPHA:83617
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia	OMIM:185070
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial septal defect,...	OMIM:300712
Steinfeld Syndrome	Absent gallbladder, Iris coloboma, Abnormal heart morphology	OMIM:184705
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, Cardi...	ORPHA:445038
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Atrial septal defect,...	ORPHA:904
Isolated Follicle Stimulating Hormone Deficiency	Anosmia	ORPHA:52901
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Irritability, Cataract, Nephrocalcinosis	OMIM:146200
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst...	ORPHA:488618
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola...	OMIM:247410
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Ab...	ORPHA:887
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic...	OMIM:617925
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hyposmia, Anosmia, Absent nares, Single naris	ORPHA:2250
Bardet-Biedl Syndrome 1	Cataract, Biliary tract abnormality, Abnormality of the ovary, Astigmatism, Hypogonadism, Vaginal...	OMIM:209900
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithiasis, Annular panc...	ORPHA:97297
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm, Cataract	ORPHA:523
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Cardiomyop...	OMIM:222300
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Extramedullary hem...	ORPHA:79303
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy...	ORPHA:2969
Septo-Optic Dysplasia Spectrum	Anosmia	ORPHA:3157
Young-Onset Parkinson Disease	Hyposmia	ORPHA:2828
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Kallmann Syndrome	Hyposmia, Anosmia	ORPHA:478
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Attention deficit hyperactivity disorder	ORPHA:565899
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis...	OMIM:269200
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Renal cyst	OMIM:611134
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Agel Amyloidosis	Deficit in phonologic short-term memory, Cataract, Proteinuria, Stage 5 chronic kidney disease, D...	ORPHA:85448
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Holoprosencephaly	Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Anosmia, Depressed nasa...	ORPHA:2162
Trisomy 10P	Absent gallbladder, Multiple renal cysts, Rectovaginal fistula, Abnormal heart morphology	ORPHA:171929
Tetrasomy 9P	Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atresia, Horses...	ORPHA:3310
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot, Iris coloboma	ORPHA:3186
Microsporidiosis	Brain abscess, Cholangitis, Keratitis, Abnormality of the spleen, Lymphadenitis, Abnormality of t...	ORPHA:2552
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Cataract, Hypospadias, Bilobate gallbladder, Vent...	OMIM:261540
Moebius Syndrome	Abnormality of the sense of smell	ORPHA:570
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Progressive neurologic deterioration, 3-Methylglutaconic aciduria,...	OMIM:618329
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Joubert Syndrome 6	Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis	OMIM:610688
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge	ORPHA:251066
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria	ORPHA:349
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Ambiguous genitalia, Abnormal renal ph...	ORPHA:96176
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ...	OMIM:175200
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia	OMIM:619718
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Waardenburg Syndrome, Type 4C	Anosmia	OMIM:613266
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis	OMIM:608885
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Cataract, Severe B lymphocytopenia, Portal hyper...	OMIM:620005
Hereditary Late-Onset Parkinson Disease	Hyposmia	ORPHA:411602
Superficial Siderosis	Anosmia, Partial anosmia	ORPHA:247245
Waardenburg Syndrome, Type 2E	Anosmia	OMIM:611584
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract...	OMIM:137920
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Horseshoe kid...	OMIM:617140
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Cat Eye Syndrome	Ventricular septal defect, Biliary atresia, Vesicoureteral reflux, Horseshoe kidney, Hydronephros...	OMIM:115470
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Overriding aorta, Sclerocornea, Ovotestis, Ventricular septal defect, Hypo...	OMIM:309801
Fanconi Anemia, Complementation Group Q	Biliary atresia, Bone marrow hypocellularity, Primum atrial septal defect	OMIM:615272
Bosma Arhinia Microphthalmia Syndrome	Anosmia, Choanal atresia, Aplasia of the nose	OMIM:603457
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia	OMIM:609136
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts...	OMIM:208500
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, Bile duct pro...	OMIM:261515
Meningioma	Abnormality of the sense of smell	ORPHA:2495
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia	OMIM:618653
Wilson Disease	Hyposmia	OMIM:277900
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili...	OMIM:613610
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Legius Syndrome	Short attention span, Cataract, Acute monocytic leukemia, Nephrolithiasis, Ovarian neoplasm, Mitr...	ORPHA:137605
Amoebiasis Due To Free-Living Amoebae	Hyposmia	ORPHA:68
Leopard Syndrome 1	Hyposmia, Depressed nasal ridge	OMIM:151100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Hypoplasminogenemia	Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia...	OMIM:273395
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:99226
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Rect...	ORPHA:436252
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral renal agenesis, Horseshoe kidney, Abnormal heart morphology, Atria...	ORPHA:500150
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Pituitary adenoma, Neoplasm of the gallbladder, He...	ORPHA:733
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Atrial septal defect, Hypoplasia of penis, Cataract, Hypospad...	ORPHA:818
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly,...	ORPHA:797
Charge Syndrome	Anosmia, Depressed nasal bridge, Choanal atresia	ORPHA:138
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormal heart valve morphology, Sclerocornea, Cryptorchidism, Abnormality of the ga...	ORPHA:280
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Bil...	OMIM:613658
Lacrimoauriculodentodigital Syndrome	Anosmia, Choanal atresia	ORPHA:2363
Von Hippel-Lindau Syndrome	Papillary cystadenoma of the epididymis, Epididymal cyst	OMIM:193300
Charge Syndrome	Anosmia, Choanal atresia	OMIM:214800
Floating-Harbor Syndrome	Joint laxity, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Cryptorchidism, G...	OMIM:136140
Von Hippel-Lindau Disease	Papillary cystadenoma of the epididymis, Epididymal cyst	ORPHA:892
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Floating-Harbor Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele	ORPHA:2044

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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines.	Metabolites (August 2023)	Pebp1^em1(IMPC)Tcp	PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Pebp1^em1(IMPC)Tcp	PMC8163790

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MGI Allele	Allele Type	Produced
Pebp1^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Pebp1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pebp1 MGI:1344408

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression