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Gene: F5 MGI:88382

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
coagulation factor V
Synonyms:
Cf5,  Cf-5

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by F5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to F5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Pregnancy Loss, Recurrent, Susceptibility To, 1
OMIM:614389
Stroke, Ischemic
OMIM:601367
Thrombophilia Due To Activated Protein C Resistance
OMIM:188055

The table below shows human diseases predicted to be associated to F5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Pallor ORPHA:79283
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Splenoportal Vascular Anomalies
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system OMIM:271500
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Benign Paroxysmal Torticollis Of Infancy
Apathy, Pallor ORPHA:71518
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis OMIM:613313
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... ORPHA:369
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Prolonged neonatal jaundice ORPHA:446
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Peripheral Cone Dystrophy
Pallor OMIM:609021
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis OMIM:619111
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Ecchymosis, Impaired ris... OMIM:614201
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis OMIM:614158
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin OMIM:274400
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Breath-Holding Spells
Pallor OMIM:607578
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Purpura, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced ... OMIM:273800
Glanzmann Thrombasthenia
Prolonged bleeding time, Purpura, Impaired thrombin-induced platelet aggregation, Impaired ADP-in... ORPHA:849
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation OMIM:613112
Evans Syndrome
Lethargy, Pallor, Petechiae ORPHA:1959
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Pallor ORPHA:276608
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Pallor OMIM:613561
Infantile Liver Failure Syndrome 2
Lethargy, Prolonged prothrombin time OMIM:616483
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Cyclic Vomiting Syndrome
Lethargy, Pallor OMIM:500007
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Optic Atrophy 1
Pallor OMIM:165500
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Glycine Encephalopathy 1
Lethargy OMIM:605899
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Pallor ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Redundant neck skin OMIM:610498
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly OMIM:619858
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Aplasia Cutis Congenita
Prolonged bleeding time, Skin ulcer ORPHA:1114
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Stuve-Wiedemann Syndrome 2
Eczema, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary art... OMIM:619751
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... ORPHA:79230
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension ORPHA:79319
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Pallor ORPHA:276556
Severe Canavan Disease
Lethargy ORPHA:314911
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Pallor ORPHA:276575
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Riboflavin Deficiency
Lethargy OMIM:615026
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Pallor OMIM:611590
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Pallor ORPHA:276580
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Nephronophthisis 16
Periportal fibrosis, Cholestasis OMIM:615382
Central Neurocytoma
Lethargy, Depression ORPHA:73256
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Hemoglobin D Disease
Pallor ORPHA:90039
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Pallor ORPHA:324575
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas... OMIM:606003
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Portal hypertension OMIM:617341
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis OMIM:616629
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis OMIM:602579
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:216360
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Pallor ORPHA:3226
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Myelofibrosis
Pallor, Purpura OMIM:254450
Tay-Sachs Disease
Apathy, Pallor OMIM:272800
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Pontocerebellar Hypoplasia, Type 6
Lethargy OMIM:611523
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Bernard-Soulier Syndrome
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Purpura OMIM:231200
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... ORPHA:171
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, P... ORPHA:264580
Meckel Syndrome, Type 6
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts OMIM:612284
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Mednik Syndrome
Cirrhosis, Hepatic fibrosis, Neonatal death, Cholestasis OMIM:609313
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Susac Syndrome
Lethargy, Apathy ORPHA:838
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time OMIM:188025
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy OMIM:618226
Irida Syndrome
Pallor ORPHA:209981
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... ORPHA:186
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Pallor, Depression ORPHA:13
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibros... ORPHA:79240
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... ORPHA:49566
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:155100
Dravet Syndrome
Bradykinesia, Pallor ORPHA:33069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... ORPHA:247585
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Isovaleric Acidemia
Lethargy OMIM:243500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Donohue Syndrome
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Dry skin, Depression ORPHA:99832
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Apathy, Pallor OMIM:246450
Childhood Absence Epilepsy
Pallor, Depression ORPHA:64280
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... OMIM:619377
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time, Ecchymosis OMIM:613679
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis OMIM:601539
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy ORPHA:79312
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Classic Galactosemia
Lethargy, Depression ORPHA:79239
Dominant Beta-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hepatic fibrosis, C... ORPHA:231226
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Pallor ORPHA:263455
Meningococcal Meningitis
Lethargy, Petechiae, Purpura ORPHA:33475
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Prolonged prothrombin time, Hepatic fibrosis, Hepati... OMIM:212065
Elliptocytosis 1
Pallor OMIM:611804
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Dengue Fever
Lethargy, Petechiae ORPHA:99828
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... ORPHA:1454
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... ORPHA:731
Citrullinemia Type I
Lethargy ORPHA:247525
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis OMIM:615895
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly, Hepatic fibrosis, Cirrho... ORPHA:231214
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy ORPHA:927
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Prolonged prothrombin time, Apathy, Pallor ORPHA:20
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Petechiae OMIM:314050
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Bardet-Biedl Syndrome
Hepatic fibrosis ORPHA:110
Typhoid
Lethargy ORPHA:99745
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Aceruloplasminemia
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration ORPHA:48818
Congenital Heart Block
Pallor ORPHA:60041
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:42
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Ogden Syndrome
Lethargy, Cutis laxa ORPHA:276432
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal... ORPHA:333
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Pseudo-Torch Syndrome 2
Lethargy, Petechiae OMIM:617397
Isolated Atp Synthase Deficiency
Lethargy ORPHA:254913
Bleeding Disorder, Platelet-Type, 17
Prolonged bleeding time, Impaired collagen-induced platelet aggregation, Ecchymosis, Petechiae, I... OMIM:187900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy OMIM:614299
Cold Agglutinin Disease
Pallor ORPHA:56425
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... OMIM:139090
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy OMIM:615838
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Hepatic fibrosis,... OMIM:222470
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia OMIM:200995
Blue Rubber Bleb Nevus
Prolonged bleeding time ORPHA:1059
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Propionic Acidemia
Lethargy OMIM:606054
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Maple Syrup Urine Disease
Lethargy OMIM:248600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Prolonged prothrombin time, Hepatic fibrosis, Cirrho... ORPHA:14
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy OMIM:604377
Holocarboxylase Synthetase Deficiency
Lethargy ORPHA:79242
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Prolonged prothrombin time OMIM:311250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Prolonged prothrombin time ORPHA:71212
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Insulinoma
Lethargy ORPHA:97279
Myopathy, Mitochondrial, And Ataxia
Pallor, Depression OMIM:617675
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... OMIM:616263
Aregenerative Anemia
Pallor, Depression ORPHA:101096
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Adams-Oliver Syndrome
Congenital hepatic fibrosis, Cirrhosis, Portal hypertension ORPHA:974
Argininosuccinic Aciduria
Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration OMIM:207900
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... ORPHA:275761
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Impaired platelet aggregation OMIM:601399
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis OMIM:613989
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy OMIM:251000
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Scrub Typhus
Lethargy ORPHA:83317
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Syndromic Diarrhea
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Cirrhosis, Hepatoblastoma ORPHA:84064
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Erythema OMIM:618321
American Trypanosomiasis
Pallor ORPHA:3386
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Beta-Ketothiolase Deficiency
Apathy, Pallor ORPHA:134
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... OMIM:266920
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Senior-Loken Syndrome 8
Pallor OMIM:616307
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy ORPHA:465508
Slc35A1-Cdg
Prolonged bleeding time ORPHA:238459
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep... OMIM:620005
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Dry skin, Depression ORPHA:90674
Meckel Syndrome 14
Hepatic fibrosis OMIM:619879
Congenital Disorder Of Glycosylation, Type Ig
Lethargy OMIM:607143
Staphylococcal Necrotizing Pneumonia
Lethargy ORPHA:36238
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Letterer-Siwe Disease
Pallor OMIM:246400
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Ecchymosis, Impaired ADP-induced platelet aggregation OMIM:614075
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Hepatic fibrosis OMIM:209900
Cirrhosis, Familial
Lethargy OMIM:215600
Necrotizing Enterocolitis
Lethargy ORPHA:391673
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Late-Onset Isolated Acth Deficiency
Lethargy, Dry skin ORPHA:199299
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepati... OMIM:218330
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy OMIM:608836
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Morbilliform rash, Ecchymosis, Internal ... ORPHA:99827
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Hepatomegaly, Periportal fibrosis, Neonatal death OMIM:269860
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Cholera
Palmoplantar cutis laxa, Lethargy ORPHA:173
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:615273
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Pearson Marrow-Pancreas Syndrome
Lethargy, Erythema, Pallor OMIM:557000
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Ec... ORPHA:906
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Orofaciodigital Syndrome I
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts OMIM:311200
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy OMIM:608643
Mitochondrial Trifunctional Protein Deficiency
Lethargy ORPHA:746
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Lethargy, Bipolar affective disorder, Depression ORPHA:254892
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Encephalitis Lethargica
Lethargy ORPHA:83600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis OMIM:263520
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:614074
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Familial Hypoaldosteronism
Lethargy ORPHA:427
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Sim1-Related Prader-Willi-Like Syndrome
Lethargy ORPHA:398079
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Biotinidase Deficiency
Lethargy OMIM:253260
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Methylmalonic Aciduria, Cbla Type
Lethargy OMIM:251100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619534
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Histiocytoid Cardiomyopathy
Lethargy, Pallor ORPHA:137675
Magel2-Related Prader-Willi-Like Syndrome
Lethargy ORPHA:398069
Adenohypophysitis
Pallor ORPHA:95512
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Hepatic cysts ORPHA:79328
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Peroxisome Biogenesis Disorder 5A (Zellweger)
Lethargy OMIM:614866
Panhypophysitis
Pallor ORPHA:95513
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis ORPHA:2072
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy OMIM:620233
Trichinellosis
Lethargy, Apathy ORPHA:863
Medulloblastoma
Lethargy ORPHA:616
Citrullinemia, Classic
Lethargy OMIM:215700
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Posterior Urethral Valve
Lethargy ORPHA:93110
Pituitary Apoplexy
Pallor ORPHA:95613
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Dry skin OMIM:218700
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Glycine Encephalopathy
Lethargy ORPHA:407
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Amoebiasis Due To Free-Living Amoebae
Lethargy, Skin ulcer ORPHA:68
Isolated Complex I Deficiency
Lethargy ORPHA:2609
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... ORPHA:99226
Prolactinoma
Pallor ORPHA:2965
Biotinidase Deficiency
Lethargy ORPHA:79241
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Fumarase Deficiency
Pallor OMIM:606812
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy ORPHA:79282
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Excessiv... ORPHA:99826
Diamond-Blackfan Anemia
Lethargy, Pallor ORPHA:124
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy OMIM:252010
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy ORPHA:415
Yellow Fever
Abnormal bleeding, Shock, Skin rash, Supraventricular arrhythmia, Excessive bleeding after a veni... ORPHA:99829
Exercise-Induced Malignant Hyperthermia
Lethargy, Dry skin ORPHA:466650
Hydranencephaly
Lethargy ORPHA:2177
Esophageal Atresia
Pallor ORPHA:1199
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Superficial Siderosis
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage ORPHA:247245
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Semilobar Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:220386
Alobar Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:93926
Lobar Holoprosencephaly
Lethargy, Apathy, Depression ORPHA:93924
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Pineoblastoma
Lethargy ORPHA:251909
Johanson-Blizzard Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:243800
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy ORPHA:226307
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Degcags Syndrome
Pallor OMIM:619488
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Lysinuric Protein Intolerance
Lethargy ORPHA:470
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Multiple Endocrine Neoplasia Type 1
Lethargy, Depression ORPHA:652
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Von Hippel-Lindau Disease
Pallor ORPHA:892
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatitis, Hepato... ORPHA:64
Eisenmenger Syndrome
Lethargy ORPHA:97214
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Goodpasture Syndrome
Pallor OMIM:233450
Pmm2-Cdg
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology ORPHA:79318
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... ORPHA:286
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Stroke, Ischemic
OMIM:601367
Thrombophilia Due To Activated Protein C Resistance
OMIM:188055
Pregnancy Loss, Recurrent, Susceptibility To, 1
OMIM:614389

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 F5

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 F5.

No publications found that use IMPC mice or data for F5.

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
F5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
F5tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
F5tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
F5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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