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Gene: Becn1 MGI:1891828

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Gene Summary

Name:
beclin 1, autophagy related
Synonyms:
Atg6

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased startle reflex Becn1tm1b(KOMP)Wtsi HET Early adult 4.58×10-10
increased total body fat amount Becn1tm1b(KOMP)Wtsi HET Early adult 8.50×10-08
increased circulating bilirubin level Becn1tm1b(KOMP)Wtsi HET Early adult 1.10×10-05
preweaning lethality, complete penetrance Becn1tm1b(KOMP)Wtsi HOM   Early adult 1.34×10-05
decreased circulating HDL cholesterol level Becn1tm1b(KOMP)Wtsi HET Early adult 4.03×10-05
increased leukocyte cell number Becn1tm1b(KOMP)Wtsi HET   Early adult 3.96×10-05
decreased lean body mass Becn1tm1b(KOMP)Wtsi HET Early adult 4.40×10-07

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

46 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Becn1 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 Becn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Bazex Syndrome
Yellow nails, Anemia, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma ORPHA:166113
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Asbestos Intoxication
Atelectasis, Pleural thickening, Mediastinal lymphadenopathy, Abnormal pulmonary interstitial mor... ORPHA:2302
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma ORPHA:2023
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich... ORPHA:1501
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention tremor OMIM:610539
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Tremor, Hyperbilirubinemia ORPHA:713
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Dystonia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... ORPHA:2591
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... ORPHA:69077
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... OMIM:224120
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Abnormal eosinophil morphology, Gastroi... ORPHA:221
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Yellow nails, Biliary tract neoplasm, Bronchiec... ORPHA:662
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Liposarcoma
Sarcoma ORPHA:69078
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:235555
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Vacuolated lymphocytes OMIM:269920
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Abnormality... ORPHA:314478
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis... ORPHA:1667
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Neonatal hyperbilirubinemia ORPHA:95717
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus OMIM:619685
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level ORPHA:95715
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:601847
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia ORPHA:69665
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilir... ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:211600
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... OMIM:617049
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Decreased body weight OMIM:614886
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age OMIM:619075
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Cystic Echinococcosis
Abscess, Eosinophilia, Weight loss, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess ORPHA:400
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Nail dystrophy, Squamous cell carcinoma OMIM:615225
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Tremor, Hyperam... ORPHA:3008
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Trem... OMIM:277900
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, Acanthocytosis, Decr... ORPHA:14
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age, Neonatal hyperbilirubinemia ORPHA:73272
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Failure to thrive, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, T... OMIM:557000
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Fai... OMIM:208085
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Failure to thrive OMIM:613404
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c... ORPHA:99889
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Flexion contracture OMIM:618201
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries ORPHA:90301
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... OMIM:617093
Caroli Syndrome
Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilir... ORPHA:480520
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Polycythemia, Hyperbilirubinemia OMIM:606812
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... OMIM:617099
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Monosomy 22
Aplasia of the thymus, Synophrys, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, ... ORPHA:96123
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Caroli Disease
Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal c... ORPHA:53035
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal ... ORPHA:567983
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Umbilical hernia, Hypercholesterolemia, Failure to thri... ORPHA:90674
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Opisthotonus ORPHA:95232
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... ORPHA:79277
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Congenital Disorder Of Glycosylation, Type Ia
Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Stea... OMIM:212065
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... OMIM:614866
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Isolated Biliary Atresia
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma, Severe failu... ORPHA:30391
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Reynolds Syndrome
Calcinosis, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia OMIM:613471
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Sparse anterior ... ORPHA:821
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom... ORPHA:636
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Liver Disease, Severe Congenital
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... OMIM:619991
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response, Failure to thrive OMIM:616881
Ogden Syndrome
Torticollis, Inguinal hernia, Iron deficiency anemia, Minimal subcutaneous fat, Hyperbilirubinemi... OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Failure to thrive, Head titubation, Overweight, Obesity, Hyperbili... OMIM:619475
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Abnormal adipose tissue morphology, B lymphocytopenia, Camptodacty... ORPHA:79324
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Degcags Syndrome
Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Hiatus hernia, Hepatosple... OMIM:619488
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Pancytopenia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjug... OMIM:613658
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive OMIM:229600
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Hardikar Syndrome
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Umbilical hernia, Failure to... OMIM:301068
Cranioectodermal Dysplasia 2
Splenomegaly, Inguinal hernia, Polysplenia, Hyperbilirubinemia OMIM:613610
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Senior-Boichis Syndrome
Hepatosplenomegaly, Anemia, Increased total bilirubin ORPHA:84081
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Exaggerated startle response, Failure to thrive OMIM:617864
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... OMIM:617301
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Flexion contracture, Elbow flexion contracture, Kn... OMIM:210710
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... ORPHA:845
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia OMIM:615574
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spl... OMIM:619534
Dubowitz Syndrome
Acute lymphoblastic leukemia, Inguinal hernia, Aplastic anemia, Hypocholesterolemia OMIM:223370
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra... OMIM:253800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia ORPHA:79255
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Decreased circulating cortisol level OMIM:620305
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size OMIM:209900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Unconjugated hyperbilirubinemia OMIM:620186
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Failure to thrive OMIM:617527
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Smith-Lemli-Opitz Syndrome
Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... OMIM:270400
Johanson-Blizzard Syndrome
Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi... OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia, Uterine prolapse, Anemia ORPHA:438213
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99226
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Becn1

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 Becn1.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BECLIN1 is essential for intestinal homeostasis involving autophagy-independent mechanisms through its function in endocytic trafficking. Communications biology (February 2024) Becn1tm1c(KOMP)Wtsi PMC10879175
Beclin1 is essential for the pancreas development. Developmental biology (September 2023) Becn1tm1a(KOMP)Wtsi 37739117
BECLIN1 Is Essential for Podocyte Secretory Pathways Mediating VEGF Secretion and Podocyte-Endothelial Crosstalk. International journal of molecular sciences (March 2022) Becn1tm1a(KOMP)Wtsi PMC8998849
Influenza A virus infection-induced macroautophagy facilitates MHC class II-restricted endogenous presentation of an immunodominant viral epitope. The FEBS journal (December 2020) Becn1tm1a(KOMP)Wtsi 33830641
Depletion of Adipocyte Becn1 Leads to Lipodystrophy and Metabolic Dysregulation. Diabetes (October 2020) Becn1tm1a(KOMP)Wtsi PMC7881852
Beclin 2 negatively regulates innate immune signaling and tumor development. The Journal of clinical investigation (October 2020) Becn1tm1c(KOMP)Wtsi PMC7524487
Beclin 1 functions as a negative modulator of MLKL oligomerisation by integrating into the necrosome complex. Cell death and differentiation (May 2020) Becn1tm1c(KOMP)Wtsi Becn1tm1a(KOMP)Wtsi PMC7560833
Adipocyte-specific Beclin1 deletion impairs lipolysis and mitochondrial integrity in adipose tissue. Molecular metabolism (April 2020) Becn1tm1a(KOMP)Wtsi PMC7235646
Autophagy is required for lung development and morphogenesis. The Journal of clinical investigation (June 2019) Becn1tm1a(KOMP)Wtsi PMC6597208
Beclin 1 regulates recycling endosome and is required for skin development in mice. Communications biology (January 2019) Becn1tm1a(KOMP)Wtsi PMC6347619
Cytokeratin 19 promoter directs the expression of Cre recombinase in various epithelia of transgenic mice. Oncotarget (March 2017) Becn1tm1a(KOMP)Wtsi PMC5392329

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Becn1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Becn1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Becn1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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