Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pla2g4a MGI:1195256

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

phospholipase A2, group IVA (cytosolic, calcium-dependent)

Synonyms:

cPLA2, cPLA2alpha, cytosolic phospholipase A2, Type IV PLA2, Pla2g4, cytosolic PLA2

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 Pla2g4a 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.

Human diseases associated with Pla2g4a (1 diseases)
Human diseases predicted to be associated with Pla2g4a (496 diseases)

The table below shows human diseases associated to Pla2g4a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets		Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372

The table below shows human diseases predicted to be associated to Pla2g4a by phenotypic similarity.

Disease	Matching phenotypes	Source
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis	OMIM:246650
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Ethanolaminosis	Cardiomegaly	OMIM:227150
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Poems Syndrome	Diabetes mellitus, Pericardial effusion, Hypothyroidism, Abnormality of the endocrine system, Pri...	ORPHA:2905
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Immunoglobulin A Deficiency 2	Autoimmunity, Decreased circulating IgA level	OMIM:609529
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ...	ORPHA:353
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad...	ORPHA:892
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P...	ORPHA:284227
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Hereditary Chronic Pancreatitis	Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Paraproteinemia, Upp...	ORPHA:171442
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Chylous Ascites	Pancreatitis	ORPHA:1160
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis	OMIM:620137
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Autoimmunity, Elevated circulating C-reactive ...	ORPHA:158061
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Gallbladder Disease 1	Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du...	OMIM:600803
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula...	OMIM:300855
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl...	ORPHA:69663
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Hypertension, Ischemic...	ORPHA:542643
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor...	ORPHA:2041
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus, Gout	OMIM:610947
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm...	ORPHA:860
Hypermanganesemia With Dystonia 1	Hepatomegaly, Polycythemia	OMIM:613280
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency	OMIM:619386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Fumarase Deficiency	Perimembranous ventricular septal defect, Polycythemia, Polymicrogyria, Lissencephaly	OMIM:606812
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Impotence, Arrhythmia	ORPHA:85447
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Hypom...	ORPHA:309854
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli...	ORPHA:65682
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge...	OMIM:235200
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, ...	ORPHA:79083
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardio...	ORPHA:116
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism	OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Abcd Syndrome	Polycythemia	OMIM:600501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Childhood-Onset Nemaline Myopathy	Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at...	ORPHA:171439
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes	OMIM:269920
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Acute Lung Injury	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:178320
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly	ORPHA:858
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast...	ORPHA:98848
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Abnormality of skeletal muscle fiber...	ORPHA:2348
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten...	OMIM:618652
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis	ORPHA:435651
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated j...	ORPHA:465508
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Cardiomegaly	ORPHA:88643
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino...	OMIM:603471
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent duct...	OMIM:601005
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Patent ductus arter...	OMIM:616867
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Decreased specific pneumococcal antibody level	OMIM:617006
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Hepatic steatosis, Pancreatitis	OMIM:618805
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol...	OMIM:256550
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ...	ORPHA:401768
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Diabetic ketoacidosis, Pneumonia	ORPHA:70578
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, U...	OMIM:618935
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Increased variability in muscle fiber diameter	OMIM:613752
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat...	OMIM:212140
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia	OMIM:618886
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ...	OMIM:620265
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Maple Syrup Urine Disease	Hypoglycemia, Pancreatitis	OMIM:248600
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi...	OMIM:617253
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab...	OMIM:600376
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Mastocytosis	ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis	ORPHA:79312
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab...	OMIM:187300
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis	ORPHA:412057
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri...	OMIM:603903
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Eczema, Pancreatitis	OMIM:606054
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased c...	OMIM:601859
Von Hippel-Lindau Syndrome	Hypertension, Polycythemia, Pheochromocytoma, Paraganglioma	OMIM:193300
Cap Myopathy	Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,...	ORPHA:171881
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Hyperparathyroidism 2 With Jaw Tumors	Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma	OMIM:145001
Cach Syndrome	Optic neuritis, Pancreatitis, Hepatosplenomegaly	ORPHA:135
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis, Hepatomegaly	OMIM:251000
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness	OMIM:266500
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellu...	ORPHA:549
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis	ORPHA:27
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Anem...	OMIM:226670
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular...	OMIM:201475
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi...	ORPHA:79086
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot...	ORPHA:52430
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Vaginitis, Bone marrow hypocellularity, A...	ORPHA:2968
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ...	ORPHA:540
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Decre...	ORPHA:353298
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertroph...	OMIM:617713
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi...	OMIM:614302
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Mogs-Cdg	Decreased circulating IgG level, Hepatomegaly, Inappropriate antidiuretic hormone secretion, Card...	ORPHA:79330
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab...	OMIM:618484
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati...	ORPHA:85410
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ...	OMIM:603909
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ...	ORPHA:444490
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent duc...	ORPHA:3427
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus...	ORPHA:486815
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Eosinophilic Fasciitis	Muscular edema, Myositis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Abnormal eosinophil morphology	ORPHA:1164
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Dysbetalipoproteinemia	Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Diabetes mellitus, Gout, Hypothyroidism	ORPHA:412
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Familial Aortic Dissection	Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, Joint contracture of the 5th finger	OMIM:248910
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,...	ORPHA:2552
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja...	ORPHA:171
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Congenital Myopathy 15	Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi...	OMIM:620161
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Gout, Inflammation of the large in...	OMIM:232220
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ...	OMIM:604377
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,...	OMIM:253600
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec...	OMIM:614921
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Pancreatitis	ORPHA:188
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Decreased circulating I...	OMIM:618278
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis	OMIM:610475
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Cleft Larynx, Posterior	Aspiration	OMIM:215800
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ...	OMIM:617022
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bacterial endocarditis, S...	ORPHA:97214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis	OMIM:232200
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Hypocalciuric Hypercalcemia, Familial, Type Ii	Primary hyperparathyroidism, Pancreatitis	OMIM:145981
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Syncope, Impotence, Orthostatic hypotension	ORPHA:441
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Impaired T cell function, Minimal change glomerulonephritis, B...	ORPHA:1830
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet...	OMIM:613327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Rhabdomyolysis, Leukopenia, Myopathy, Palpitations...	OMIM:255125
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis	OMIM:236200
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Pericardial effusion, Splenomegaly, Throm...	ORPHA:167
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets	OMIM:619065
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Increased circulating antibody level	ORPHA:319218
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ...	OMIM:151660
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis	ORPHA:280365
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Sterile abscess, Decreased circulating IgA level, ...	OMIM:618282
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r...	OMIM:619802
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Mccune-Albright Syndrome	Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat...	ORPHA:562
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Gastritis, Diabetes mellitus, Pustule, Myocarditis, Peritonit...	ORPHA:73263
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Juvenile Temporal Arteritis	Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia	ORPHA:26137
Mirizzi Syndrome	Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph...	ORPHA:521219
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P...	ORPHA:228123
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Increased circulating IgG4 level, Retroperito...	ORPHA:449395
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Increased...	OMIM:608836
Citrullinemia Type Ii	Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis	ORPHA:247585
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Hypoglycemia, Enterocolitis, Gout, Hepatocellular adenoma, Ulcer...	ORPHA:79259
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis	ORPHA:26791
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Abnormality of neuronal migration, Renal tubular epithel...	ORPHA:228308
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Increased variability in muscle fiber diameter, My...	OMIM:611881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ...	OMIM:157640
Aicardi-Goutieres Syndrome 9	Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertensio...	OMIM:619487
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly...	ORPHA:158687
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Incr...	OMIM:232800
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Igg4-Related Pachymeningitis	Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Fucosidosis	Hepatomegaly, Decreased muscle mass, Hypothyroidism, Cardiomegaly	ORPHA:349
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis	ORPHA:565612
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Jaundice, Pancreatitis	ORPHA:370348
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Optic Atrophy 11	Splenomegaly, Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping	OMIM:617302
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Increase...	OMIM:620278
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel...	ORPHA:342
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Arthrogryposis mu...	OMIM:608013
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Microcytic anemia, Cardiomegaly, ...	OMIM:256040
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Psoriasis-Related Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion	ORPHA:85436
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Sweet Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:3243
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in hepato...	ORPHA:20
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Ab...	ORPHA:2463
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Retroperitoneal fibrosis, Or...	ORPHA:449563
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Mastocytosis, Arrhythmia	ORPHA:2135
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
Melas	Hypoparathyroidism, Diabetes mellitus, Recurrent pancreatitis, Type II diabetes mellitus, Type I ...	ORPHA:550
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Spinocerebellar Ataxia Type 8	Aspiration, Impotence, Urinary incontinence	ORPHA:98760
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi...	OMIM:608594
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ...	ORPHA:365
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Congestive heart failure, Myopathy, ...	ORPHA:14
Cystic Echinococcosis	Hepatomegaly, Eosinophilia, Abscess, Abnormality of the testis size, Abnormal heart morphology, I...	ORPHA:400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Pancreatitis	OMIM:600740
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat...	ORPHA:3260
Hyperekplexia 1	Aspiration, Apnea	OMIM:149400
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Hypoglycemia, Chronic pancreatitis, Gout, Inflammation of the large int...	OMIM:232240
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal pericardium morphology, Portal hypertension, Abnormal skele...	ORPHA:284
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp...	OMIM:618143
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, Insulin-resistant diabetes mell...	OMIM:269700
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot...	OMIM:618268
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Macroglossia	OMIM:230000
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ...	ORPHA:900
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m...	OMIM:164310
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, O...	ORPHA:199299
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperthyroidism, Increased variability in muscle fiber diameter, Primary amenorrhea, Increased mu...	ORPHA:502423
Infection-Related Hemolytic Uremic Syndrome	Diabetes mellitus, Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis	ORPHA:544482
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Congestive heart...	OMIM:252500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Lysinuric Protein Intolerance	Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Hepatosp...	ORPHA:470
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter...	ORPHA:93126
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Hypoglycemia, Orchitis, Jaundice, Uveitis, Arth...	ORPHA:99826
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis...	OMIM:185000
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Adrenocortical carcinoma,...	OMIM:130650
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Cardiac arrest, Myocarditis, Thyroiditis, Lymphocytosis	ORPHA:139402
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ...	OMIM:603554
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Erythema nodosum, Splenomegaly, Jaundice, Epididymitis, Myocard...	ORPHA:99827
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, C...	ORPHA:51
Opitz Gbbb Syndrome	Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethral valve, Vesicour...	OMIM:300000
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red ...	ORPHA:17
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level,...	OMIM:602450
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Pancreatitis, Acute colitis	ORPHA:90038
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Primary amenorrhea, Distal amyotrophy, Increased variability in muscle fiber dia...	OMIM:617675
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl...	ORPHA:733
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Increased variability in muscle fiber diameter	OMIM:615595
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Respiratory insufficiency, Pulmonary arterial hypertension, Respirator...	ORPHA:258
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Reduced renal corticomedullary differentiation, Multiple renal ...	OMIM:618733
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss...	ORPHA:581
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Stevens-Johnson Syndrome	Conjunctivitis, Pancreatitis	ORPHA:36426
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Toxic Epidermal Necrolysis	Conjunctivitis, Pancreatitis	ORPHA:537
Tay-Sachs Disease	Aspiration	OMIM:272800
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Neutral Lipid Storage Myopathy	Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis	ORPHA:98908
Bardet-Biedl Syndrome 20	Pancreatitis	OMIM:619471
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Inflammatory abnormality of the skin	OMIM:610768
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Lysinuric Protein Intolerance	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:222700
Visceral Myopathy 1	Pancreatitis	OMIM:155310
Developmental And Epileptic Encephalopathy 38	Aspiration	OMIM:617020
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis	ORPHA:99880
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis	ORPHA:143
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration	ORPHA:600
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Glycerol Kinase Deficiency	Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis	OMIM:307030
Lipodystrophy, Familial Partial, Type 7	Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type...	OMIM:606721
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Cryptorchidism, Horseshoe kidney, Esophagitis, Aspiration	ORPHA:96182
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Abs...	OMIM:301000
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Scorpion Envenomation	Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia	ORPHA:466677
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Stridor, Aspiration, Neonatal respiratory distress, Apnea	OMIM:614653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ...	OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Polymicrogyria, Muscular dystrophy, Agyria	OMIM:616538
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration, Neonatal respiratory distress	OMIM:618922
Native American Myopathy	Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co...	ORPHA:168572
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular...	ORPHA:60025
Familial Hypocalciuric Hypercalcemia	Pancreatitis	ORPHA:405
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Hypothyroidism,...	ORPHA:904
Pontine Tegmental Cap Dysplasia	Aspiration	OMIM:614688
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration	ORPHA:2148
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Pachygyria, Cryptorchidism, Renovascular hypertension, C...	ORPHA:3472
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Yellow Fever	Acute pancreatitis, Skin rash, Pancreatic hyperplasia, Jaundice, Increased circulating IgM level	ORPHA:99829
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Adnp Syndrome	Respiratory distress, Cryptorchidism, Urinary incontinence, Aspiration	ORPHA:404448
Halperin-Birk Syndrome	Aspiration	OMIM:618651
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Rett Syndrome, Congenital Variant	Aspiration	OMIM:613454
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard...	ORPHA:51608
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte...	OMIM:615343
Developmental And Epileptic Encephalopathy 100	Aspiration	OMIM:619777
Alström Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h...	ORPHA:64
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Neonatal respiratory distress, Apnea, Unilateral renal agenesis, Cryptorchidism, Asthma, Atopic d...	OMIM:619503
Bilateral Perisylvian Polymicrogyria	Aspiration, Apnea	ORPHA:98889
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hypospadias, Pneumonia, Cryptorchidism, Asthma, Nephrolithiasis, Hydrocele testis, Otitis media, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hypospadias, Pneumonia, Cryptorchidism, Asthma, Nephrolithiasis, Hydrocele testis, Otitis media, ...	ORPHA:353277
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372

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 Pla2g4a

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 Pla2g4a.

No publications found that use IMPC mice or data for Pla2g4a.

Order Mouse and ES Cells

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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us