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Gene: Anxa7 MGI:88031

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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:
annexin A7
Synonyms:
Anx7,  synexin

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 Anxa7 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Anxa7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Thrombocythemia 2
Thrombocytosis OMIM:601977
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... OMIM:606762
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Thrombocythemia 3
Thrombocytosis OMIM:614521
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... OMIM:614201
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, G... OMIM:155100
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Chylous Ascites
Pancreatitis ORPHA:1160
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Hereditary Chronic Pancreatitis
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Jaundice, Recurrent pan... ORPHA:676
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Adrenal insuff... OMIM:619386
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis, Hyperammonemia OMIM:620137
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Hy... OMIM:603471
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... OMIM:604416
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm, Cryptorchidism OMIM:310465
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extraction, Prolonged bleeding af... ORPHA:331
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... OMIM:601399
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Sple... OMIM:210250
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Failure to thrive, T-cell acute lymphoblastic leukemias, Chromosomal brea... OMIM:605724
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis OMIM:145980
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hypoalbuminemia, Pancreatitis, Hepatic steatosis OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... ORPHA:65682
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Lymphoproliferative disorder, Postnatal growth retardation, Fa... OMIM:609981
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:326
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph... OMIM:187900
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Maple Syrup Urine Disease
Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate... OMIM:248600
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145981
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Prolonged bl... OMIM:202400
Bernard-Soulier Syndrome
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... OMIM:231200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulat... ORPHA:276575
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... OMIM:614034
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:289916
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... ORPHA:325
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:79312
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemi... ORPHA:824
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Decreased cir... ORPHA:276556
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Hyperammonemia ORPHA:27
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... OMIM:618372
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r... ORPHA:79083
Fanconi Anemia, Complementation Group S
Chromosome breakage, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Failure to thrive OMIM:617883
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Decreased fe... OMIM:210900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Tubulointerstitial nephritis,... OMIM:251000
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... ORPHA:99828
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Medulloblastoma, Neuroblastoma, Nephroblastoma, Chromosomal breakag... OMIM:610832
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... ORPHA:431361
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hy... OMIM:226300
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:609054
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... ORPHA:328
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... ORPHA:97339
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after dental extrac... ORPHA:98879
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycyst... ORPHA:2348
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Su... ORPHA:169802
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... ORPHA:35909
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... ORPHA:247585
Adult Acute Respiratory Distress Syndrome
Pneumonia, Diabetic ketoacidosis, Pancreatitis ORPHA:70578
Acute Lung Injury
Acute pancreatitis, Increased circulating surfactant protein level, Pneumonia, Elevated circulati... ORPHA:178320
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity ORPHA:99976
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Eczema, Hyperammonemia, Hyperglycinemia, Pancreatitis OMIM:606054
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight OMIM:619060
Cach Syndrome
Pancreatitis, Optic neuritis, Nonketotic hyperglycinemia, Hepatosplenomegaly ORPHA:135
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Pancreatitis OMIM:600740
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Abnormality of chromosome stability OMIM:600546
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyperlipidemia, Delayed puberty, G... OMIM:232220
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea OMIM:604931
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Red... OMIM:314050
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja... ORPHA:444490
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebr... ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... OMIM:615934
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... ORPHA:79086
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infecti... ORPHA:549
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarch... ORPHA:412057
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal duct... ORPHA:521219
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Abnormal endocrine physiology, Hyperthyroidism, Elevated circula... ORPHA:562
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormality of chromosome stability, Neoplasm, Failure to thrive, ... ORPHA:100
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis, Hypermethioninemia, Hyperhomocystinemia OMIM:236200
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... ORPHA:727
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Gout, Hyperuricemia, Fasting hypogly... OMIM:232200
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Defi... OMIM:227650
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Hypocalcemia, Thrombocytos... OMIM:212750
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis ORPHA:188
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Hyperhidrosis, Gly... ORPHA:263455
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma OMIM:613951
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Infertility, Hepatic steatosis OMIM:615703
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... ORPHA:324636
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of ... OMIM:600901
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Decreased body weight OMIM:618097
Leptin Deficiency Or Dysfunction
Decreased testicular size, Hypogonadism, Obesity, Primary amenorrhea OMIM:614962
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... OMIM:260370
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage OMIM:613603
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:480520
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Petechiae, Bradycardia, Cerebral hemorrhage OMIM:617397
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Hyperammonemia, Leukopenia, Prolonged prothrombin time, Hyperuricemia, Thrombocytos... ORPHA:20
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of e... ORPHA:93111
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Failure to thrive, Cryptorchidism OMIM:617052
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia ORPHA:134
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D... ORPHA:280365
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Fanconi Anemia, Complementation Group C
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of ... OMIM:227645
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia ORPHA:420741
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures ORPHA:405
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Elevated circulating creat... ORPHA:565612
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio... ORPHA:26791
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:99880
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepati... ORPHA:79259
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr... OMIM:301074
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Decreased circu... OMIM:212065
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... ORPHA:143
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ... OMIM:618213
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity ORPHA:2233
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Hypokalemia, Unconjugat... ORPHA:90038
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp... OMIM:608233
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Decreased circulating antibody level, Increased ser... OMIM:222470
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:615688
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Obesity OMIM:615982
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... ORPHA:449427
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis, Hyperammonemia OMIM:615486
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Hypothyroidism, ... OMIM:619487
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia OMIM:615272
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... ORPHA:171
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Koolen-De Vries Syndrome Due To A Point Mutation
Intraventricular hemorrhage, Aortic aneurysm, Pulmonic stenosis, Cardiomyopathy ORPHA:363965
17Q21.31 Microdeletion Syndrome
Intraventricular hemorrhage, Aortic aneurysm, Pulmonic stenosis, Cardiomyopathy ORPHA:363958
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Hypercholesterolemia, Male hypogonadism, Pancreatitis OMIM:619471
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Hyperlipidemia, Pancreatitis, Minimal change glomerulonephritis ORPHA:1830
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... OMIM:246200
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Meningioma
Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Neurofibroma, Obesity, Impoten... ORPHA:2495
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia ORPHA:2905
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation ... OMIM:232240
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Decreased testicular ... OMIM:610628
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Acute leukemia ORPHA:99812
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Decreased body weight OMIM:609053
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... OMIM:219700
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Arthritis, Erysipel... ORPHA:342
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of ... OMIM:227646
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Fetal Gaucher Disease
Neonatal death, Stillbirth, Intracranial hemorrhage ORPHA:85212
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,... ORPHA:93126
Perrault Syndrome 4
Premature ovarian insufficiency, Obesity, Secondary amenorrhea, Primary amenorrhea, Disproportion... OMIM:615300
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Obesity And Hypopigmentation
Hepatic steatosis, Overgrowth, Obesity OMIM:620195
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... ORPHA:84064
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal fi... ORPHA:449563
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... OMIM:222700
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancrea... OMIM:307030
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Abnormality of the thyroid gland, Pituitar... ORPHA:733
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Decreased serum leptin... OMIM:608594
Zygomycosis
Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonit... ORPHA:73263
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Diabetes insipidus, Skin rash, Elevated... ORPHA:900
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity OMIM:615981
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the endocrine system, Abnormali... ORPHA:228123
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... OMIM:269700
Hellp Syndrome
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... ORPHA:117
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Decreased fertility, Obesity, Hypogonadism, Decreased testicular size ORPHA:2234
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Pneumonia, Myocarditis, Hyperkalemia, Hypocalcemia, Septic arthr... ORPHA:544482
Fanconi Anemia, Complementation Group F
Cryptorchidism, Failure to thrive, Chromosomal breakage induced by crosslinking agents OMIM:603467
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Increased serum bile aci... OMIM:618268
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia, Myeloprolifer... ORPHA:3260
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity OMIM:264120
Visceral Myopathy 1
Pancreatitis OMIM:155310
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage OMIM:608836
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Cryptorchidism, Obesity, Gonadoblastoma, Nephroblastoma OMIM:194072
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub... OMIM:615710
Brucellosis
Elevated circulating C-reactive protein concentration, Hypersplenism, Splenomegaly, Leukocytosis,... ORPHA:1304
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Marburg Hemorrhagic Fever
Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, ... ORPHA:99826
Neutral Lipid Storage Myopathy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pancreatitis, Pineal cyst, Abnorma... ORPHA:98908
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... ORPHA:550
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Impa... ORPHA:79329
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Chr... ORPHA:906
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... ORPHA:536545
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis ORPHA:36426
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... OMIM:601346
Toxic Epidermal Necrolysis
Conjunctivitis, Pancreatitis ORPHA:537
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Bardet-Biedl Syndrome 9
Truncal obesity, Irregular menstruation, Obesity OMIM:615986
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio... OMIM:276700
Menkes Disease
Intracranial hemorrhage OMIM:309400
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Postnatal growth retardation, Irregula... ORPHA:79240
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth OMIM:241500
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... ORPHA:2177
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Adrenocortical Carcinoma
Adrenocortical carcinoma, Abnormality of reproductive system physiology, Increased body weight, W... ORPHA:1501
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexia, Lymphom... ORPHA:647
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Myocarditis, Hyperhidrosis, Gl... ORPHA:466677
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Yellow Fever
Acute pancreatitis, Skin rash, Elevated circulating creatine kinase concentration, Jaundice, Panc... ORPHA:99829
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Orchitis, S... ORPHA:99827
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Irregular menstruation, Increased body... ORPHA:264580
Fanconi Anemia, Complementation Group B
Hypogonadism, Abnormality of chromosome stability, Hypergonadotropic hypogonadism OMIM:300514
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... ORPHA:99885
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Obesity OMIM:614963
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Neurocutaneous Melanocytosis
Intracranial hemorrhage ORPHA:2481
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Ent... ORPHA:95427
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Polycythemia, Leukocytosis, Bone marrow hypocellularity, Abnormality of n... ORPHA:2968
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hepatic steatosis, Pituitary adenoma, Irregular menstruation, Increased body weight, Renal cell c... ORPHA:189427
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Decreased t... ORPHA:66628
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage OMIM:618291
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Decreased t... ORPHA:179494
Bdv Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:619326
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Obesity, Primary amenorrhea, Hypoplasia of th... ORPHA:2235
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju... ORPHA:464329
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurr... OMIM:606721
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter... OMIM:232300
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial diss... ORPHA:666
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalcemic tetany, Hyp... ORPHA:79443
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Small for gestational age, Overgrowth, Large for gestational age ORPHA:254534
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... ORPHA:109
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Abdominal obesity, Oligomenorrhea OMIM:219090
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae OMIM:617053
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:267000
Shigellosis
Hyponatremia, Hypoglycemia, Pneumonia, Myocarditis, Peritonitis, Abnormal blood ion concentration... ORPHA:810
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Blue Diaper Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:94086
Microcephalic Primordial Dwarfism, Dauber Type
Severe postnatal growth retardation, Obesity, Primary amenorrhea ORPHA:319675
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Fanconi Anemia
Abnormality of chromosome stability, Myelodysplasia, Cryptorchidism, Weight loss, Azoospermia, Ab... ORPHA:84
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... OMIM:175780
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Doors Syndrome
Thrombocytosis ORPHA:79500
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal obesity, Hypogonadism, Infer... ORPHA:398069
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Failure to thrive ORPHA:175
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... ORPHA:99889
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Sotos Syndrome
Cryptorchidism, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Tall stature OMIM:117550
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Interrupted aortic arch, Heart murmur ORPHA:163979
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... ORPHA:90324
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary arterial hyper... ORPHA:79282
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function ORPHA:648
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspirati... ORPHA:173
Greenberg Dysplasia
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly OMIM:215140
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Acute Liver Failure
Abnormal bleeding, Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothro... ORPHA:90062
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly, Pancreatic islet-... ORPHA:373
Cushing Disease
Pituitary corticotropic cell adenoma, Increased body weight, Secondary amenorrhea, Truncal obesit... ORPHA:96253
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemi... ORPHA:411629
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Lymphoma, Increased body weight, Hodgkin lymphoma, Weight loss, Bilia... ORPHA:2298
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode ORPHA:86309
Arachnoid Cyst
Subarachnoid hemorrhage ORPHA:2356
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L... OMIM:619472
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pancreatic islet-cell hyperplas... OMIM:312870
Witteveen-Kolk Syndrome
Intracranial hemorrhage OMIM:613406
Pmm2-Cdg
Intracranial hemorrhage, Hypertrophic cardiomyopathy, Pericarditis, Angina pectoris ORPHA:79318

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 Anxa7

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 Anxa7.

No publications found that use IMPC mice or data for Anxa7.

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MGI Allele Allele Type Produced
Anxa7tm379027(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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