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Gene: Fga MGI:1316726

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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:
fibrinogen alpha chain
Synonyms:
ENSMUSG00000059807,  Fib

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 Fga 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 Fga by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Afibrinogenemia
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Spontaneous abortion, Menometrorrhagia, Abnorm... ORPHA:98880
Afibrinogenemia, Congenital
Abnormal bleeding, Splenic rupture OMIM:202400
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Splenomegaly, Cholestasis, Skin rash OMIM:105200

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Von Willebrand Disease, Type 3
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... OMIM:277480
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... OMIM:605735
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... OMIM:173470
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Menometrorrhagia, Ce... ORPHA:98879
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Bleeding Disorder In Hemophilia A Carriers
Menorrhagia, Prolonged bleeding following procedure, Post-partum hemorrhage, Joint hemorrhage, Ep... ORPHA:177926
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... OMIM:619271
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... OMIM:193400
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Hyperlipidemia, Prolonged prothrombin ti... ORPHA:35909
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Congenital Factor Xi Deficiency
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding after d... ORPHA:329
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding OMIM:227500
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... OMIM:609821
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... ORPHA:849
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... OMIM:231200
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Synovitis, Limb joint contracture, Sub... ORPHA:169802
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Congenital Factor Xiii Deficiency
Recurrent spontaneous abortion, Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, ... ORPHA:331
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts OMIM:618462
Hemophilia B
Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Persistent blee... OMIM:306900
Hemophilia A
Splenic rupture, Intracranial hemorrhage, Abnormality of the elbow, Joint hemorrhage, Bleeding wi... ORPHA:98878
Hemophilia A With Vascular Abnormality
Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrhage, Osteoarthritis, Persistent bl... OMIM:306800
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... OMIM:614009
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Factors Viii, Ix And Xi, Combined Deficiency Of
Ecchymosis, Joint hemorrhage, Joint dislocation, Bruising susceptibility OMIM:134520
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Hip contracture, Subdural hemorr... ORPHA:169805
Hemophilia A
Joint hemorrhage, Osteoarthritis, Persistent bleeding after trauma, Bruising susceptibility OMIM:306700
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... ORPHA:99147
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Menorrhagia, Eczema, Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Ecchymosis, Epiphyseal stippling, Joint hemorrhage, Epistaxis, Abnormal bleeding, Bruising suscep... OMIM:277450
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Isolated Polycystic Liver Disease
Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Increased total bilirubin, P... ORPHA:2924
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Vom... ORPHA:324636
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, Platelet ... OMIM:187800
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Diffuse al... ORPHA:99827
Thrombocytopenia 1
Eczema, Petechiae, Increased circulating IgA level, Decreased mean platelet volume, Joint hemorrh... OMIM:313900
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Nausea and vomiting, Dysphagia, Abnormal large intestine morphology, Abnormal esoph... ORPHA:2198
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Malabsorption, Splenomegaly, Cirrhosis, Abnormal bleeding, Gastrointe... ORPHA:79301
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... OMIM:601399
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Hypertension, Abnormal platelet aggregation, Raynaud phenomenon ORPHA:401945
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility OMIM:614076
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Pancreatic cysts, Subconjunctival hemorrhage, Fractures of the l... ORPHA:464329
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function, Splenomegaly ORPHA:231393
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, ... ORPHA:274
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Nausea and vomiting, Abnormality of the panc... ORPHA:543
Immunodeficiency 81
Petechiae, Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Impaired ... OMIM:619374
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... OMIM:619172
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... OMIM:137560
Hermansky-Pudlak Syndrome 6
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... OMIM:614075
Hermansky-Pudlak Syndrome 8
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... OMIM:614077
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Prolonged prothrombin time, Hyperbilirubinemia, Nodul... ORPHA:64743
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormality of the menstrual cycle, Patent ductus arteriosus, Gastrointestinal hemo... ORPHA:90308
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hypertension, Pancreatic cysts, Esophageal varix, Hepatic cysts, Renal cyst, Spleno... OMIM:263200
Carcinoid Syndrome
Right ventricular failure, Facial telangiectasia, Nausea and vomiting, Small intestine carcinoid,... ORPHA:100093
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Sitosterolemia 1
Elevated circulating sitosterol concentration, Arthritis, Splenomegaly, Abnormality of the liver,... OMIM:210250
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... OMIM:187900
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Nausea and vomiting, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Spl... ORPHA:1414
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Prolonged Q... ORPHA:71212
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Epistaxis, Myocardial infarction, Prolonged bleeding time, Giant platelets, Abnormal... OMIM:155100
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... ORPHA:731
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Decreased serum thromboxane B2, Epistaxis, Prolonged bleeding time, Bruising suscepti... OMIM:614158
Dengue Fever
Cerebral hemorrhage, Hepatomegaly, Nausea and vomiting, Hypoproteinemia, Gingival bleeding, Petec... ORPHA:99828
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... ORPHA:79319
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Budd-Chiari syndrome, Vomitin... ORPHA:284
Wolfram Syndrome 2
Oligomenorrhea, Decreased circulating antibody level, Impaired collagen-induced platelet aggregat... OMIM:604928
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Hepatocellular necrosis, Vomiting, Depletion of mi... OMIM:251880
Meckel Syndrome, Type 7
Pancreatic cysts, Bile duct proliferation, Patent ductus arteriosus, Multicystic kidney dysplasia... OMIM:267010
Wild Type Abeta2M Amyloidosis
Abnormal intestine morphology, Dysphagia, Intestinal pseudo-obstruction, Arthritis, Gastrointesti... ORPHA:85446
Ménétrier Disease
Hypoproteinemia, Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicoba... ORPHA:2494
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... ORPHA:131
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, He... ORPHA:730
Campomelia, Cumming Type
Hepatomegaly, Abnormal intestine morphology, Pancreatic cysts, Abnormality of the pancreas, Multi... ORPHA:1318
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Prolonged prothrombin time, Decreased circulating antibody level, Hyperammonem... ORPHA:247598
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, Ep... OMIM:201475
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Petechiae, Hepatosplenomegaly, Gastrointestinal hemorrhage, Male infertility, Diarr... ORPHA:85450
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Arthritis, Intestinal obstruction, Ga... ORPHA:343
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcin... ORPHA:2137
Typhoid
Hepatomegaly, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Cardiac arrest, Abdominal pai... ORPHA:99745
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Gastrointestinal infarctions OMIM:602248
Hepatocellular Carcinoma
Esophageal varix, Hemobilia, Abdominal distention, Abnormality of the hepatic vasculature, Diarrh... ORPHA:88673
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Hepatic fibrosis, Pancreatic cysts, Early ossification of capital femora... OMIM:208500
Ganglioneuroma
Colorectal polyposis, Hypertension, Functional intestinal obstruction, Episodic abdominal pain, G... ORPHA:251992
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Esophageal varix, Osteopenia, Retinal telangiectasia, Gastrointestinal hemorrhage, Portal hyperte... OMIM:617341
Polymyositis
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Anorexia, Pericarditis, Chondr... ORPHA:732
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Budd-Chiari syndrome, Cerebral ischemia, Splenomegaly, Gastr... OMIM:263300
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Feeding difficult... OMIM:231530
Ebola Hemorrhagic Fever
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Increased circulating antibody level, Gastrointes... ORPHA:319218
Aggressive Systemic Mastocytosis
Anorexia, Thrombocytopenia, Abdominal cramps, Elevated total serum tryptase, Osteoporosis, Malabs... ORPHA:98850
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Vomiting, Gastrointestinal infar... ORPHA:2869
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic fibrosis, Vomiting, Hepatic necrosis, Elevated alpha-fetoprotein, Abdominal... ORPHA:33402
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Morphological abnormality of the gastrointestinal tract, Melena, Muscle hemorrha... ORPHA:464321
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Desmoid Tumor
Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal po... ORPHA:873
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... OMIM:600208
Blue Rubber Bleb Nevus
Volvulus, Prolonged bleeding time, Gastrointestinal infarctions, Intestinal bleeding ORPHA:1059
Mgat2-Cdg
Hypoplastic nipples, Feeding difficulties, Decreased circulating IgG level, Decreased circulating... ORPHA:79329
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dysphagia, Vomiting, Elevated circulating creatine kinase concentration, Feeding di... ORPHA:26791
Cryoglobulinemic Vasculitis
Hepatomegaly, Gastrointestinal infarctions, Petechiae, Arthritis, Splenomegaly, Abnormality of th... ORPHA:91138
Acute Liver Failure
Shock, Intracranial hemorrhage, Hepatocellular necrosis, Vomiting, Nausea, Prolonged prothrombin ... ORPHA:90062
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Polyarticular arthritis, Vomiting, Oligoarthritis, Hepatic amyloidosis, Chronic dia... OMIM:142680
Von Hippel-Lindau Syndrome
Hypertension, Pancreatic cysts, Neoplasm of the pancreas, Abnormality of the liver, Multiple rena... OMIM:193300
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Myocarditis, Hypertension, Pancreatic cy... ORPHA:892
Myh9-Related Disease
Menorrhagia, Increased mean platelet volume, Spontaneous, recurrent epistaxis, Myocardial infarct... ORPHA:182050
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Patellar aplasia, Pancreatic cysts, Meckel diverticulum, Decreased circulating antibo... OMIM:274000
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plat... OMIM:608233
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Pericarditis, Xerostomia, Pulmonary arterial hypertension, Arthritis, ... ORPHA:809
Orofaciodigital Syndrome I
Hypertension, Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Hepatic cysts, Polycystic kid... OMIM:311200
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hypermobility, Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia, Joint hype... ORPHA:230839
Nephronophthisis-Like Nephropathy 1
Hypertension, Chronic pancreatitis, Renal corticomedullary cysts, Pancreatic cysts OMIM:613159
Al Amyloidosis
Abdominal distention, Gastroparesis, Gastrointestinal hemorrhage, Autonomic erectile dysfunction,... ORPHA:85443
Ppoma
Neoplasm of the small intestine, Intestinal carcinoid, Primary hyperparathyroidism, Gastrointesti... ORPHA:97278
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Vomiting, Elevated total serum tryptase, Abnormality of ... ORPHA:79456
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Polycythemia Vera
Hepatomegaly, Hypertension, Gingival bleeding, Budd-Chiari syndrome, Epistaxis, Intermittent clau... ORPHA:729
Sebastian syndrome
Thrombocytopenia, Epistaxis, Prolonged bleeding time, Giant platelets OMIM:605249
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged bleeding tim... ORPHA:238459
Mastocytosis
Hepatomegaly, Nausea and vomiting, Anorexia, Hypercalcemia, Osteoporosis, Telangiectasia of the s... ORPHA:98292
Fechtner syndrome
Menorrhagia, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Bruis... OMIM:153640
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... OMIM:614074
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Thrombocytopenia, Bruising susceptib... OMIM:314050
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Subcutaneous hemo... OMIM:603585
Grfoma
Neoplasm of the small intestine, Intestinal carcinoid, Primary hyperparathyroidism, Gastrointesti... ORPHA:97261
Hereditary Hemorrhagic Telangiectasia
Esophageal varix, Gastrointestinal hemorrhage, Transient ischemic attack, Pulmonary embolism, Por... ORPHA:774
Whipple Disease
Myocarditis, Hepatomegaly, Hyponatremia, Anorexia, Pericarditis, Erectile dysfunction, Arthritis,... ORPHA:3452
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Petechiae, Increased circulating IgA level, Increased circulating IgG level, Spleno... OMIM:603909
Gastrointestinal Stromal Tumor
Nausea and vomiting, Dysphagia, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neoplasm ... ORPHA:44890
Microscopic Polyangiitis
Nausea and vomiting, Pericarditis, Gastrointestinal infarctions, Peritonitis, Epistaxis, Pancreat... ORPHA:727
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormal platelet function, Petechiae, Hypoplasia of the thy... ORPHA:906
Leigh Syndrome
Hepatocellular necrosis, CNS demyelination OMIM:256000
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Hypertension, Pancreatic cysts, Abnormality of the pancreas, Reduced bone mine... ORPHA:2750
Somatostatinoma
Neoplasm of the small intestine, Primary hyperparathyroidism, Gastrointestinal hemorrhage, Steato... ORPHA:97283
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin, Decreased liver function... OMIM:616299
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular carcinoma, Hypertyrosinemia, Splenomega... OMIM:276700
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Pyloric stenosis OMIM:188025
Simple Cryoglobulinemia
Hypertension, Monoclonal elevation of circulating IgA, Pericarditis, Monoclonal immunoglobulin M ... ORPHA:91139
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function, Splenomegaly ORPHA:2585
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Raynaud phenomenon, Splenomegaly, Gastrointestinal ... OMIM:613471
Familial Colorectal Cancer Type X
Nausea and vomiting, Abnormal circulating creatine concentration, Neoplasm of the rectum, Stomach... ORPHA:440437
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Vomiting, Nausea, Hepatic steatosis, Polycystic kidney dyspla... OMIM:231680
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Elevated circulating C-reactive protein concentration, Macular pu... ORPHA:49566
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... ORPHA:480520
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Elevated circulating creatinine concentration, Cardiomyopathy, Rayn... ORPHA:247691
Aplasia Cutis Congenita
Abnormality of bone mineral density, Prolonged bleeding time ORPHA:1114
Waldenström Macroglobulinemia
Hepatomegaly, Anorexia, Gingival bleeding, Monoclonal immunoglobulin M proteinemia, Epistaxis, Ma... ORPHA:33226
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Dysphagia, Pulmonic stenosis, Prolonged bleeding time, Cryptorchidism ORPHA:638
Stevens-Johnson Syndrome
Nausea and vomiting, Dysphagia, Pancreatitis, Dyspareunia, Myocardial infarction, Acute hepatic f... ORPHA:36426
Lynch Syndrome
Ovarian neoplasm, Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carcinoma, Pancreat... ORPHA:144
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Intestinal perforation, Telangiec... ORPHA:679
Neuroendocrine Tumor Of The Rectum
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Bloody diarrhea, Tenesmus, Consti... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Bloody diarrhea, Tenesmus, Consti... ORPHA:100082
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Gingival bleeding, Prolonged prothrombin time, Abnorma... ORPHA:335
Glucagonoma
Stomatitis, Primary hyperparathyroidism, Gastrointestinal hemorrhage, Steatorrhea, Intrahepatic c... ORPHA:97280
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Jaun... ORPHA:913
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Yellow Fever
Prolonged prothrombin time, Excessive bleeding after a venipuncture, Acute pancreatitis, Pancreat... ORPHA:99829
Juvenile Dermatomyositis
Dysphagia, Calcinosis, Pericarditis, Elevated circulating creatine kinase concentration, Telangie... ORPHA:93672
Juvenile Polyposis Of Infancy
Rectal prolapse, Adenomatous colonic polyposis, Patent ductus arteriosus, Melena, Intussusception... ORPHA:79076
Meckel Syndrome
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Multicystic kidney dys... ORPHA:564
Pachydermoperiostosis
Hepatomegaly, Genu varum, Osteoporosis, Arthritis, Malabsorption, Splenomegaly, Osteomyelitis, Ga... ORPHA:2796
Neuroendocrine Tumor Of The Colon
Right ventricular failure, Hepatomegaly, Facial telangiectasia, Bloody diarrhea, Anorexia, Bowel ... ORPHA:100080
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Mitral regurgitation, Gastrointestinal dysmotility, Pulmonary arterial hyperten... ORPHA:363705
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Decreased serum thromboxane B2, Abnormal circulating eicosanoid co... OMIM:618372
Adams-Oliver Syndrome
Esophageal varix, Congenital hepatic fibrosis, Pulmonary arterial hypertension, Cirrhosis, Gastro... ORPHA:974
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abdominal distention, Abnormal circulating pro... ORPHA:103910
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Feeding difficulties, Gastroesophageal reflux, Abnormal myelination, Flexion contracture OMIM:618324
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Gastrointestinal hemorrhage, Ab... ORPHA:97286
Classic Homocystinuria
Hepatomegaly, Hypertension, Intracranial hemorrhage, Anorexia, Esophageal varix, Osteoporosis, Ce... ORPHA:394
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Elevated circulating creatine kinase concentration, Cholelithiasis, Cholest... ORPHA:79095
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... ORPHA:424019
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... ORPHA:209964
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Melena, Nausea and vomiting, Palpitations, Tric... ORPHA:100075
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Female infertility, Premature ovarian insuffi... OMIM:619518
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Nausea and vomiting, Intracranial hemorrhage, Bone marrow hypocellularity, Splenome... ORPHA:3226
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain, Melena OMIM:619182
Wolfram Syndrome
Feeding difficulties in infancy, Abnormality of mesentery morphology, Gastric ulcer, Cardiomyopat... ORPHA:3463
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Vomiting, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Low-to... OMIM:241200
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Osteoporosis, Delayed epiphyseal ossification, Oste... ORPHA:91
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Gingival bleeding, Colitis, Epistaxis, Cardiomyopathy, Prolo... OMIM:203300
Fructose Intolerance, Hereditary
Hepatomegaly, Vomiting, Nausea, Hypophosphatemia, Bicarbonaturia, Hyperbilirubinemia, Hyperuricos... OMIM:229600
Monosomy 13Q34
Prolonged prothrombin time, Osteochondrosis, Epistaxis, Metrorrhagia, Pulmonic stenosis, Hepatic ... ORPHA:96168
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Abnormal platelet morphology, Impaired platelet aggregation OMIM:300835
Pseudoxanthoma Elasticum
Hypertension, Abnormality of thrombocytes, Angina pectoris, Restrictive cardiomyopathy, Telangiec... ORPHA:758
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Anorexia, Epistaxis, Menometrorrhagia, Cardiomyopathy, Malabsorption... ORPHA:79430
Leukocyte Adhesion Deficiency
Thrombocytosis, Peritonitis, Chronic oral candidiasis, Bone marrow hypocellularity, Vaginitis, Os... ORPHA:2968
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Splenomegaly, Myocardial infarction, P... ORPHA:3318
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Carney Triad
Hypertension, Nausea and vomiting, Anorexia, Gastrointestinal stroma tumor, Abdominal pain, Tachy... ORPHA:139411
Toxic Epidermal Necrolysis
Nausea and vomiting, Dysphagia, Intestinal perforation, Pancreatitis, Malabsorption, Acute hepati... ORPHA:537
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Subarachnoid hemorrhage, Hematochezia OMIM:277175
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Angina pectoris OMIM:177850
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hepatocellular carcinoma, Prolonged prothrombin time, Elevated circulating c... ORPHA:88618
Blue Rubber Bleb Nevus
Rectal prolapse, Volvulus, Pathologic fracture, Abnormality of the liver, Intussusception, Intest... OMIM:112200
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Insulinoma, Melena, Intrahepatic cholestasis with ... ORPHA:100076
Familial Afibrinogenemia
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Spontaneous abortion, Menometrorrhagia, Abnorm... ORPHA:98880
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Chédiak-Higashi Syndrome
Hyponatremia, Hypoproteinemia, Abnormal platelet function, Thrombocytopenia, Gingival bleeding, E... ORPHA:167
Juvenile Polyposis Syndrome
Spontaneous, recurrent epistaxis, Neoplasm of the small intestine, Intussusception, Gastrointesti... ORPHA:2929
Eosinophilic Gastroenteritis
Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration, Vomiting, Mala... ORPHA:2070
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Zygomycosis
Myocarditis, Colon perforation, Hepatitis, Melena, Osteolysis, Gastritis, Gastrointestinal hemorr... ORPHA:73263
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Cap Polyposis
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal... ORPHA:160148
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Abnormal myelination ORPHA:85179
Immunoglobulin A Vasculitis
Nausea and vomiting, Anorexia, Gastrointestinal infarctions, Arthritis, Gastrointestinal hemorrha... ORPHA:761
Granulomatosis With Polyangiitis
Hypertension, Nausea and vomiting, Pericarditis, Prostatitis, Epistaxis, Pancreatitis, Recurrent ... ORPHA:900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased circulating ferritin concentration, Abnormal... ORPHA:309854
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... ORPHA:90363
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Gingival bleeding, Post-partum hemorrhage, Hyperbilirubinemia, Melena, Elev... ORPHA:98870
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Rift Valley Fever
Anorexia, Gingival bleeding, Retinal hemorrhage, Hepatitis, Spontaneous abortion, Increased circu... ORPHA:319251
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Pseudohypoparathyroidism Type 1A
Hypertension, Hypocalcemic tetany, Oligomenorrhea, Abnormal platelet function, Prolonged QT inter... ORPHA:79443
Menkes Disease
Tarsal synostosis, Nausea and vomiting, Feeding difficulties in infancy, Intracranial hemorrhage,... ORPHA:565
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Prolonged bleeding time, Knee joint hypermobilit... ORPHA:49042
Behçet Disease
Nausea and vomiting, Anorexia, Pericarditis, Mitral regurgitation, Aortic regurgitation, Pancreat... ORPHA:117
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding OMIM:185050
Noonan Syndrome
Abnormality of the spleen, Hepatomegaly, Feeding difficulties in infancy, Abnormal platelet funct... ORPHA:648
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Gingival bleeding, Petechiae, Increased circulating IgA leve... OMIM:301000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Vomiting, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hypomagne... OMIM:175500
Afibrinogenemia, Congenital
Abnormal bleeding, Splenic rupture OMIM:202400
Hemorrhagic Fever-Renal Syndrome
Petechiae, Melena, Diarrhea, Abdominal pain, Hyperphosphatemia, Capillary leak, Ecchymosis, Hyper... ORPHA:340
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal carcinoma, Neoplasm of the pancreas, Ovarian cyst, Intussuscept... OMIM:175200
Macs Syndrome
Osteoporosis, Joint hypermobility, Prolonged bleeding time, Hypergonadotropic hypogonadism, Crypt... OMIM:613075
Systemic Sclerosis
Right ventricular failure, Syncope, Myocarditis, Gastroparesis, Raynaud phenomenon, Abnormal stom... ORPHA:90291
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Arterial rupture, Congenital hip dislocation, Joint dislocation, Osteopenia, Gastro... OMIM:225400
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Intestinal malrotation, Female infertility, Male infertility, ... ORPHA:244
Dermatosparaxis Ehlers-Danlos Syndrome
Abnormal joint morphology, Rickets, Osteoporosis, Joint dislocation, Esophagitis, Osteopenia, Hip... ORPHA:1901
Angioosteohypertrophic Syndrome
Abnormality of the menstrual cycle, Telangiectasia of the skin, Gastrointestinal hemorrhage, Cong... ORPHA:2346
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Feeding difficulties, Hepatomegaly, Diarrhea, Hepatocellular necrosis OMIM:618278
Sandifer Syndrome
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Hypoplasia of the thymus, Patent ductus arteriosus, Splenomegaly... ORPHA:567
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, Intestinal atresia, Hemato... OMIM:243150
Scleroderma
Right ventricular failure, Syncope, Myocarditis, Raynaud phenomenon, Abnormal stomach morphology,... ORPHA:801
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Lissencephaly 8
Elevated circulating creatine kinase concentration, Abnormal myelination OMIM:617255
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Gingival bleeding, Increased circulating IgA level, Decrease... OMIM:600903
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Duodenal ulcer, Goiter, Insulinoma, Melena, Reduced bone mineral density, ... ORPHA:652
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Multiple gastric polyps, Intussusception, ... OMIM:174900
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomega... OMIM:301068
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Sclerosis of finger phalanx, Prolonged prothrombin time, Impair... ORPHA:404454
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:187300
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Decreased circulating antibody level, Hypocalcemia, Hypomagnesemia, Hypertriglyceri... OMIM:618183
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Increased susceptibility to fractures, Osteoporosis, Bone marrow hypocellularity, Leukodystrophy,... OMIM:612199
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... ORPHA:99413
Turner Syndrome
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... ORPHA:99228
Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Cubitus valgus, Reduce... ORPHA:99226
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Feeding difficulties, Abnormal myelination, Camptodactyly OMIM:617333
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Duodenal polyposis, Abn... ORPHA:329971
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... OMIM:600376
Radiation Proctitis
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... ORPHA:70475
Lymphangioleiomyomatosis
Abdominal pain, Gastrointestinal hemorrhage, Multiple renal cysts ORPHA:538
Aceruloplasminemia
Aceruloplasminemia, Elevated hepatic iron concentration, Decreased serum iron, Decreased circulat... ORPHA:48818
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Ne... ORPHA:157794
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal stenosi... ORPHA:424016
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
20Q13.33 Microdeletion Syndrome
Hip dislocation, Delayed CNS myelination, Hematochezia ORPHA:261311
Monosomy 18Q
Left-to-right shunt, Abnormal myelination, Mitral regurgitation, Decreased circulating IgA level,... ORPHA:1600
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Abnormal pancreas morphology, Xeros... ORPHA:449432
Neurofibroma
Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology, Multiple in... ORPHA:252183
Turcot Syndrome With Polyposis
Constipation, Adenomatous colonic polyposis, Vomiting, Nausea, Desmoid tumors, Hepatoblastoma, Me... ORPHA:99818
Mucoepithelial Dysplasia, Hereditary
Chronic diarrhea, Corneal neovascularization, Melena OMIM:158310
Cockayne Syndrome Type 3
Hepatomegaly, Abnormal myelination, Subdural hemorrhage, Feeding difficulties, Demyelinating peri... ORPHA:90324
Plague
Hepatomegaly, Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Abno... ORPHA:707
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination ORPHA:289266
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Adenomatous colonic polyposis, Desmoid tumors, Hepatoblastoma, Duodenal polyposis, Intestinal ble... ORPHA:261584
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Juvenile gastrointestinal polyposis, Mitral regurgitation, Gastrointestinal carci... OMIM:175050
Non-Specific Early-Onset Epileptic Encephalopathy
Feeding difficulties, Gastroesophageal reflux, Abnormal myelination ORPHA:442835
Classical Ehlers-Danlos Syndrome
Rectal prolapse, Arterial rupture, Bruising susceptibility, Ecchymosis, Mitral regurgitation, Vom... ORPHA:287
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Feeding difficulties, Leukodystrophy, Joint hypermobility, Hematochezia, Chronic constipation OMIM:619575
Degcags Syndrome
Pyloric stenosis, Patent ductus arteriosus, Hepatosplenomegaly, Oral-pharyngeal dysphagia, Intest... OMIM:619488
8Q24.3 Microdeletion Syndrome
Dysphagia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Congenital hip d... ORPHA:508488
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Abnormal myelination ORPHA:34527
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atopic dermatitis, Abnormal peripheral myelination, Abnormal myelination, Congenital finger flexi... ORPHA:466768
Bannayan-Riley-Ruvalcaba syndrome
Joint hypermobility, Intussusception, Hamartomatous polyposis, Hematochezia, Supernumerary nipple OMIM:153480
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination, Nasogastric tube feeding ORPHA:280210
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Anterior pituitary hypoplasia, Decreased response to growth hormone stimula... ORPHA:67045
Orofaciodigital Syndrome Type 14
Abnormal myelination, Gastrostomy tube feeding in infancy, Patent ductus arteriosus, Aplasia of t... ORPHA:434179
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Splenomegaly, Cholestasis, Skin rash OMIM:105200

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 Fga

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 Fga.

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

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MGI Allele Allele Type Produced
Fgatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Fgatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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