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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 prothrombin time, Prolonged bleeding time OMIM:227400
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... 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
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Lethargy ORPHA:79283
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Breath-Holding Spells
Pallor, Loss of consciousness OMIM:607578
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Retinitis Pigmentosa 60
Pallor OMIM:613983
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Splenomegaly, Anomalous splenoportal venous system OMIM:271500
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Portal fibrosis, Elev... OMIM:616278
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Benign Paroxysmal Torticollis Of Infancy
Pallor, Drowsiness ORPHA:71518
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616719
Hemochromatosis, Neonatal
Hepatic failure, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Cirrhosis, He... OMIM:231100
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
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
Hepatic bridging fibrosis, Elevated circulating alanine aminotransferase concentration, Portal in... OMIM:613759
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Optic Atrophy 9
Pallor OMIM:616289
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase,... ORPHA:369
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Drowsiness, Coma, Lethargy ORPHA:276608
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Glut1 Deficiency Syndrome 1
Lethargy, Confusion, Paroxysmal lethargy OMIM:606777
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time OMIM:608404
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis OMIM:614158
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Elevated hepatic transaminase, Hepatic fibrosis OMIM:619111
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Thyroid Dyshormonogenesis 1
Dry skin, Lethargy OMIM:274400
Retinitis Pigmentosa 70
Pallor OMIM:615922
Pediatric Hepatocellular Carcinoma
Hepatic necrosis, Hepatomegaly, Hepatic fibrosis ORPHA:33402
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276556
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Ecchymosis OMIM:614201
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
N-Acetylglutamate Synthase Deficiency
Coma, Confusion, Lethargy OMIM:237310
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276575
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276580
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time,... OMIM:273800
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Lethargy OMIM:610498
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis, Stillbirth OMIM:615415
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Retinitis Pigmentosa 73
Pallor OMIM:616544
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Hypersplenism, Portal hypertension, Periportal fibrosis, Sple... ORPHA:64743
Evans Syndrome
Pallor, Petechiae, Lethargy ORPHA:1959
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic failure, Hepatomegaly, Hepatic fibrosis OMIM:602579
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Cyclic Vomiting Syndrome
Pallor, Lethargy OMIM:500007
Nephronophthisis 16
Hepatic fibrosis, Cholestasis OMIM:615382
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Myxedema
Dry skin, Lethargy OMIM:255900
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Glycine Encephalopathy
Lethargy OMIM:605899
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Lethargy OMIM:616483
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Lethargy ORPHA:49827
Retinitis Pigmentosa 27
Pallor OMIM:613750
Optic Atrophy 1
Pallor OMIM:165500
Aplasia Cutis Congenita
Skin ulcer, Prolonged bleeding time ORPHA:1114
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy ORPHA:28
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy OMIM:605711
Spontaneous Periodic Hypothermia
Pallor, Reduced consciousness/confusion ORPHA:29822
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy ORPHA:71277
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Hemochromatosis Type 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Abnormality of endocrine pancreas phy... ORPHA:79230
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Mpi-Cdg
Hepatic fibrosis, Portal hypertension, Hepatomegaly, Decreased liver function ORPHA:79319
Cirrhosis, Familial
Lethargy OMIM:215600
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Severe Canavan Disease
Lethargy ORPHA:314911
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Atretic gallbladder, Decreased liver f... ORPHA:30391
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:615630
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepatomegaly, Asplenia... OMIM:208540
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis OMIM:616629
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Riboflavin Deficiency
Lethargy OMIM:615026
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:266920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Lethargy OMIM:611590
Transaldolase Deficiency
Hepatosplenomegaly, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhosis, Micronodular... OMIM:606003
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated hepatic transaminase, Periportal fibrosis OMIM:619484
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Glycerol Kinase Deficiency
Coma, Loss of consciousness, Lethargy OMIM:307030
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension OMIM:616589
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Coma, Loss of consciousness, Confusion, Lethargy, Delirium ORPHA:927
Sebastian syndrome
Prolonged bleeding time OMIM:605249
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Glanzmann Thrombasthenia
Purpura, Prolonged bleeding time, Ecchymosis, Impaired ristocetin-induced platelet aggregation ORPHA:849
Hemoglobin D Disease
Pallor ORPHA:90039
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepatomegaly, Neonatal ... OMIM:263200
Carnitine Deficiency, Systemic Primary
Excessive daytime somnolence, Coma, Confusion, Lethargy OMIM:212140
Central Neurocytoma
Coma, Lethargy ORPHA:73256
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Portal fibrosis, Elevated hepatic tra... ORPHA:370
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time OMIM:600208
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Coach Syndrome 1
Portal hypertension, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Intrahepatic bile... OMIM:216360
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cirrhosis, Cholangiocarcino... ORPHA:171
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy OMIM:614299
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Central Diabetes Insipidus
Excessive daytime somnolence, Lethargy ORPHA:178029
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Citrullinemia Type I
Coma, Loss of consciousness, Lethargy ORPHA:247525
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy OMIM:618226
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Loss of consciousness, Lethargy ORPHA:156
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Cystic liver disease, Hepatic fibrosis, Hepatic cysts OMIM:612284
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Myelofibrosis
Pallor, Purpura OMIM:254450
Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Drowsiness, Coma, Lethargy ORPHA:263455
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Portal fibrosis, Elevated hepatic tra... ORPHA:264580
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis ORPHA:79322
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Prolonged bleeding time ORPHA:3226
Meningococcal Meningitis
Petechiae, Reduced consciousness/confusion, Drowsiness, Lethargy, Purpura ORPHA:33475
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Jaundice, Hepatitis, Abnormality of the ... ORPHA:186
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:84081
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Bernard-Soulier Syndrome
Purpura, Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation OMIM:231200
Storage Pool Platelet Disease
Prolonged bleeding time OMIM:185050
Combined Oxidative Phosphorylation Deficiency 52
Lethargy OMIM:619386
Leukoencephalopathy With Vanishing White Matter
Lethargy OMIM:603896
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminas... ORPHA:541423
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Lethargy ORPHA:289916
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time OMIM:188025
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Susac Syndrome
Confusion, Lethargy ORPHA:838
Multiple Carboxylase Deficiency
Coma, Lethargy ORPHA:148
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomegaly, Hepatome... OMIM:610199
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, H... ORPHA:79240
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Drowsiness, Bradykinesia ORPHA:13
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Excessive daytime somnolence, Coma OMIM:246450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Lethargy ORPHA:79312
Insulinoma
Reduced consciousness/confusion, Fluctuations in consciousness, Coma, Lethargy ORPHA:97279
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Prolonged prothrombin time, Hepat... OMIM:212065
Encephalopathy, Recurrent, Of Childhood
Lethargy OMIM:130950
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Prolonged bleeding time OMIM:314050
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Chronic hepatitis, Portal inflammation, ... ORPHA:101330
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Pancreatitis, Hepatocellular carc... ORPHA:247585
Irida Syndrome
Pallor ORPHA:209981
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hepatocellular necrosis, Periportal fibrosis OMIM:201475
Donohue Syndrome
Pancreatic islet-cell hyperplasia, Cholestasis, Hepatic fibrosis OMIM:246200
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Portal fibrosis, Hepa... OMIM:619377
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Perianal erythema, Dry skin, Lethargy OMIM:201100
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Confusion, Lethargy OMIM:238970
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy ORPHA:27
Acquired Purpura Fulminans
Macular purpura, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Shock, Internal ... ORPHA:49566
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Ele... OMIM:619487
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Loss of consciousness, Lethargy ORPHA:42
Retinitis Pigmentosa 51
Pallor OMIM:613464
Retinitis Pigmentosa 75
Pallor OMIM:617023
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time, Ecchymosis OMIM:613679
Typhoid
Coma, Lethargy ORPHA:99745
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatic fibrosis, Hepatomegaly OMIM:601539
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy OMIM:255120
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Lethargy OMIM:237300
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Dopa-Responsive Dystonia
Lethargy ORPHA:255
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Gingival ble... ORPHA:335
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy OMIM:615838
Dominant Beta-Thalassemia
Hepatosplenomegaly, Chronic hepatitis, Splenomegaly, Jaundice, Cirrhosis, Hepatocellular carcinom... ORPHA:231226
Fructose-1,6-Bisphosphatase Deficiency
Reduced consciousness/confusion, Drowsiness, Excessive daytime somnolence, Coma, Pallor ORPHA:348
Resistance To Thyrotropin-Releasing Hormone Syndrome
Dry skin, Lethargy ORPHA:99832
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Lethargy OMIM:201450
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Lethargy OMIM:311250
Ogden Syndrome
Excessive daytime somnolence, Cutis laxa, Lethargy ORPHA:276432
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Methylcobalamin Deficiency Type Cble
Drowsiness, Excessive daytime somnolence, Loss of consciousness, Lethargy ORPHA:2169
Elliptocytosis 1
Pallor OMIM:611804
Holocarboxylase Synthetase Deficiency
Coma, Lethargy ORPHA:79242
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Portal hypertension, Hepatosplenomegaly, Periportal fibrosis, Cholestasis, Cholan... ORPHA:731
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary insufficiency OMIM:245650
Maple Syrup Urine Disease
Coma, Lethargy OMIM:248600
Dravet Syndrome
Pallor, Bradykinesia ORPHA:33069
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy OMIM:210200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Dengue Fever
Petechiae, Lethargy ORPHA:99828
Beta-Thalassemia Major
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Hepatocellular carcinoma, Hy... ORPHA:231214
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Lethargy, Hypoglycemic coma, Pallor, Prolonged prothrombin time ORPHA:20
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Joubert Syndrome With Hepatic Defect
Intrahepatic biliary atresia, Portal hypertension, Cirrhosis, Splenomegaly, Hepatomegaly, Neoplas... ORPHA:1454
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy OMIM:251000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time OMIM:155100
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Hardikar Syndrome
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangitis, Bile duct pro... OMIM:301068
Galactosemia
Lethargy ORPHA:352
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Bardet-Biedl Syndrome
Hepatic fibrosis ORPHA:110
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Classic Galactosemia
Lethargy ORPHA:79239
Primary Myelofibrosis
Pallor, Petechiae, Purpura, Ecchymosis ORPHA:824
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Confusion, Lethargy ORPHA:71212
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Prolonged bleeding tim... ORPHA:90308
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Senior-Loken Syndrome 8
Pallor OMIM:616307
Farber Disease
Hepatic failure, Hepatosplenomegaly, Intrahepatic cholestasis with episodic jaundice, Elevated he... ORPHA:333
Fructose-1,6-Bisphosphatase Deficiency
Coma, Lethargy OMIM:229700
Cold Agglutinin Disease
Pallor ORPHA:56425
Acrocephalopolydactylous Dysplasia
Polysplenia, Hepatic fibrosis, Hepatomegaly, Pancreatic fibrosis OMIM:200995
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... OMIM:139090
Trichohepatoenteric Syndrome 1
Hepatic failure, Abnormality of the pancreas, Cholestasis, Hepatomegaly, Jaundice, Cirrhosis, Hep... OMIM:222470
Scrub Typhus
Reduced consciousness/confusion, Lethargy ORPHA:83317
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Blue Rubber Bleb Nevus
Prolonged bleeding time ORPHA:1059
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Abetalipoproteinemia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Prolonged prothrombin ... ORPHA:14
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Propionic Acidemia
Coma, Lethargy OMIM:606054
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Pancreatic fibrosis OMIM:616263
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Coma, Confusion, Lethargy OMIM:607483
Beta-Ketothiolase Deficiency
Pallor, Reduced consciousness/confusion, Excessive daytime somnolence, Coma ORPHA:134
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Pancreatic fibrosi... OMIM:208500
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Holocarboxylase Synthetase Deficiency
Coma, Lethargy OMIM:253270
Bleeding Disorder, Platelet-Type, 17
Petechiae, Prolonged bleeding time, Ecchymosis OMIM:187900
Spinocerebellar Ataxia, X-Linked 3
Lethargy OMIM:301790
Adams-Oliver Syndrome
Cirrhosis, Congenital hepatic fibrosis, Portal hypertension ORPHA:974
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Fatal liver failure in inf... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Pseudo-Torch Syndrome 2
Petechiae, Lethargy OMIM:617397
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Impaired platelet aggregation OMIM:601399
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Splenomegaly, Hepatomegaly, Cirrhosis, Hepatic fibrosis ORPHA:84064
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Staphylococcal Necrotizing Pneumonia
Confusion, Lethargy ORPHA:36238
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Pituitary Apoplexy
Pallor, Excessive daytime somnolence, Coma, Confusion ORPHA:95613
Argininosuccinic Aciduria
Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis, Hepatomegaly OMIM:207900
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy OMIM:212138
Fechtner syndrome
Prolonged bleeding time OMIM:153640
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Biliary tract abnormality OMIM:209900
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Methylmalonic Aciduria, Cblb Type
Coma, Lethargy OMIM:251110
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Short Rib-Polydactyly Syndrome
Abnormality of the liver, Hepatic cysts, Hepatic fibrosis ORPHA:1505
Tay-Sachs Disease
Pallor OMIM:272800
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy OMIM:618321
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Lethargy OMIM:210210
American Trypanosomiasis
Pallor ORPHA:3386
Methylmalonic Aciduria, Cbla Type
Coma, Lethargy OMIM:251100
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy ORPHA:159
Joubert Syndrome 1
Hepatic fibrosis OMIM:213300
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Cranioectodermal Dysplasia 1
Hepatic failure, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepati... OMIM:218330
Slc35A1-Cdg
Prolonged bleeding time ORPHA:238459
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Ecchymosis OMIM:614075
Cholera
Palmoplantar cutis laxa, Loss of consciousness, Lethargy ORPHA:173
Mitochondrial Trifunctional Protein Deficiency
Coma, Lethargy ORPHA:746
Encephalitis Lethargica
Coma, Lethargy ORPHA:83600
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Waldenström Macroglobulinemia
Pallor, Reduced consciousness/confusion, Purpura ORPHA:33226
Symptomatic Form Of Hemochromatosis Type 1
Lethargy ORPHA:465508
Letterer-Siwe Disease
Pallor OMIM:246400
Mitochondrial Trifunctional Protein Deficiency
Lethargy OMIM:609015
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... ORPHA:99827
Necrotizing Enterocolitis
Lethargy ORPHA:391673
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Delirium, Confusion, Lethargy OMIM:277400
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Amoebiasis Due To Free-Living Amoebae
Coma, Loss of consciousness, Confusion, Lethargy, Skin ulcer ORPHA:68
Trichinellosis
Reduced consciousness/confusion, Excessive daytime somnolence, Confusion, Lethargy ORPHA:863
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Late-Onset Isolated Acth Deficiency
Dry skin, Lethargy ORPHA:199299
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time OMIM:614074
Orofaciodigital Syndrome I
Hepatic fibrosis, Hepatic cysts, Pancreatic cysts OMIM:311200
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Histiocytoid Cardiomyopathy
Pallor, Drowsiness, Loss of consciousness, Lethargy ORPHA:137675
Childhood Absence Epilepsy
Pallor ORPHA:64280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy OMIM:608836
Isolated Thyroid-Stimulating Hormone Deficiency
Dry skin, Lethargy ORPHA:90674
Short-Rib Thoracic Dysplasia 12
Neonatal death, Splenomegaly, Hepatomegaly, Periportal fibrosis OMIM:269860
Citrullinemia, Classic
Coma, Lethargy OMIM:215700
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema, Lethargy OMIM:557000
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Wiskott-Aldrich Syndrome
Hematochezia, Bruising susceptibility, Petechiae, Recurrent intrapulmonary hemorrhage, Arrhythmia... ORPHA:906
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Fumarase Deficiency
Pallor OMIM:606812
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic fibrosis OMIM:263520
Sheehan Syndrome
Pallor, Coma, Dry skin ORPHA:91355
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Hemophilia B
Prolonged bleeding time ORPHA:98879
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, Portal hypertensi... OMIM:619534
Familial Hypoaldosteronism
Lethargy ORPHA:427
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Ebola Hemorrhagic Fever
Lethargy ORPHA:319218
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Sim1-Related Prader-Willi-Like Syndrome
Lethargy ORPHA:398079
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Hereditary Fructose Intolerance
Coma, Lethargy ORPHA:469
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy OMIM:608643
Rare Circulatory System Disease
Pallor ORPHA:98028
Biotinidase Deficiency
Lethargy OMIM:253260
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Alg9-Cdg
Hepatomegaly, Hepatic cysts, Periportal fibrosis ORPHA:79328
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Magel2-Related Prader-Willi-Like Syndrome
Lethargy ORPHA:398069
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Abnormality of the spleen, Hepatic fibrosis ORPHA:2072
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Marburg Hemorrhagic Fever
Petechiae, Drowsiness, Coma, Confusion, Lethargy, Prolonged prothrombin time ORPHA:99826
Essential Thrombocythemia
Prolonged bleeding time ORPHA:3318
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin, Lethargy OMIM:218700
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Capillary leak, Hypertensi... ORPHA:340
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Medulloblastoma
Lethargy ORPHA:616
Posterior Urethral Valve
Lethargy ORPHA:93110
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Lethargy ORPHA:254892
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Congenital hepatic fibrosis, Cystic liver disease, Asplenia, ... ORPHA:564
Adenohypophysitis
Pallor ORPHA:95512
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Confusion, Lethargy ORPHA:415
Glycine Encephalopathy
Lethargy ORPHA:407
Exercise-Induced Malignant Hyperthermia
Confusion, Dry skin, Delirium, Lethargy ORPHA:466650
Visceral Steatosis, Congenital
Coma, Lethargy OMIM:228100
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Elevated hepatic transaminase, Cholestatic liver disease, C... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Elevated hepatic transaminase, Cholestatic liver disease, C... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Elevated hepatic transaminase, Cholestatic liver disease, C... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Elevated hepatic transaminase, Cholestatic liver disease, C... ORPHA:99226
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Delirium, Lethargy ORPHA:79282
Panhypophysitis
Pallor ORPHA:95513
Biotinidase Deficiency
Lethargy ORPHA:79241
Isolated Complex I Deficiency
Lethargy ORPHA:2609
Pineoblastoma
Reduced consciousness/confusion, Lethargy ORPHA:251909
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Prolactinoma
Pallor ORPHA:2965
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Coma, Lethargy OMIM:252010
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Infection-Related Hemolytic Uremic Syndrome
Pallor, Reduced consciousness/confusion, Coma ORPHA:544482
Blackfan-Diamond Anemia
Pallor, Lethargy ORPHA:124
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Internal hemorrhage ORPHA:244242
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Idiopathic Hypereosinophilic Syndrome
Pallor, Confusion ORPHA:3260
Kufor-Rakeb Syndrome
Bradykinesia, Confusion, Lethargy ORPHA:306674
Yellow Fever
Reduced ejection fraction, Skin rash, Shock, Capillary leak, Excessive bleeding after a venipunct... ORPHA:99829
Hydranencephaly
Lethargy ORPHA:2177
Fructose Intolerance, Hereditary
Coma, Lethargy OMIM:229600
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Multiple Endocrine Neoplasia Type 1
Decreased vigilance, Coma, Confusion, Lethargy ORPHA:652
Superficial Siderosis
Persistent bleeding after trauma, Subarachnoid hemorrhage, Abnormal bleeding, Internal hemorrhage ORPHA:247245
Esophageal Atresia
Pallor ORPHA:1199
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy ORPHA:226307
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Lysinuric Protein Intolerance
Coma, Lethargy ORPHA:470
Degcags Syndrome
Pallor OMIM:619488
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Semilobar Holoprosencephaly
Lethargy ORPHA:220386
Alobar Holoprosencephaly
Lethargy ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Lethargy ORPHA:93926
Lobar Holoprosencephaly
Lethargy ORPHA:93924
Von Hippel-Lindau Disease
Pallor ORPHA:892
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Hepatocellular Carcinoma
Portal hypertension, Hypotension, Budd-Chiari syndrome, Internal hemorrhage ORPHA:88673
Alström Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Hepato... ORPHA:64
Eisenmenger Syndrome
Lethargy ORPHA:97214
Paroxysmal Nocturnal Hemoglobinuria
Lethargy ORPHA:447
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Pmm2-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Abnormal liver parenchyma morphology ORPHA:79318
Goodpasture Syndrome
Pallor OMIM:233450
Vascular Ehlers-Danlos Syndrome
Bruising susceptibility, Telangiectasia of the skin, Transient ischemic attack, Renovascular hype... ORPHA:286
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125
Stroke, Ischemic
OMIM:601367
Pregnancy Loss, Recurrent, Susceptibility To, 1
OMIM:614389
Thrombophilia Due To Activated Protein C Resistance
OMIM:188055

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.

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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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