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Gene: Pla2g4a MGI:1195256

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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:
phospholipase A2, group IVA (cytosolic, calcium-dependent)
Synonyms:
N/A

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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Mahvash Disease
Type II diabetes mellitus, Increased glucagon level, Pancreatic alpha-cell hyperplasia, Recurrent... OMIM:619290
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hypothyroidism, H... ORPHA:602
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Ethanolaminosis
Cardiomegaly OMIM:227150
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis, Polycythemia OMIM:260900
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Poems Syndrome
Thrombocytosis, Erectile dysfunction, Pericardial effusion, Polycythemia, Visceromegaly, Increase... ORPHA:2905
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Glucose intolerance, Pancreatitis, Insulin resistance OMIM:606721
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level OMIM:609529
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Von Hippel-Lindau Disease
Palpitations, Pancreatic endocrine tumor, Arrhythmia, Polycythemia, Pancreatic islet cell adenoma... ORPHA:892
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Hypotension, Leukocytosis,... ORPHA:98850
Chylous Ascites
Pancreatitis ORPHA:1160
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... OMIM:263400
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Acute pancreatitis OMIM:608600
Retinitis Pigmentosa 71
Pancreatitis OMIM:616394
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Diabetes mellitus, Recurrent pancreatitis ORPHA:676
Tempi Syndrome
Increased hematocrit, Intracranial hemorrhage, Polycythemia, Increased circulating IgG level, Tel... ORPHA:284227
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Mast Cell Sarcoma
Hepatomegaly, Mastocytosis, Splenomegaly ORPHA:66661
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Hepat... ORPHA:98849
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Gallbladder Disease 1
Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice, Cholangitis, Pancreatitis, Ch... OMIM:600803
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... OMIM:300580
Livedoid Vasculopathy
Graves disease, Ischemic stroke, Leukocytosis, Polycythemia, Hypertension, Telangiectasia of the ... ORPHA:542643
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Oligomenorrhea, Marked muscular hypertrophy, Skeletal muscle hypertrophy, Prim... ORPHA:79083
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia OMIM:613280
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity OMIM:618495
Coronary Artery Disease, Autosomal Dominant 2
Gout, Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Hepatic steatosis, Pancreatitis OMIM:619386
Spermatogenic Failure 15
Non-obstructive azoospermia, Aspiration OMIM:616950
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Hemochromatosis, Type 1
Arrhythmia, Azoospermia, Amenorrhea, Impotence, Hepatomegaly, Testicular atrophy, Congestive hear... OMIM:235200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Attrv30M Amyloidosis
Arrhythmia, Impotence, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cholestatic liver disease, Pancrea... ORPHA:65682
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypomimic face, Polycythemia, Hepatomegaly, Splenomegaly, Portal hypertension, Hypertrophic cardi... ORPHA:309854
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Nemaline Myopathy 2
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Arthrogryposis multiplex cong... OMIM:256030
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Distal Myopathy, Tateyama Type
Palpitations, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic h... ORPHA:488650
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Xerostomia, Jaundice, Keratoconjunctivit... OMIM:260480
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Hepatomegaly, Secondary amenorrhea, Congestive heart failure, Spleno... ORPHA:2348
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Fumarase Deficiency
Polycythemia, Polymicrogyria OMIM:606812
Hepatocellular Carcinoma
Thrombocytosis, Internal hemorrhage, Hypotension, Polycythemia, Budd-Chiari syndrome, Hepatomegal... ORPHA:88673
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cardiomegaly, Prolonged QT i... OMIM:601005
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Pseudohypoparathyroidism, Hypothyroidism, Polycyt... ORPHA:116
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Pancreatitis OMIM:603471
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Increased propor... ORPHA:2442
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Arrhythmia, Decreased muscle mass, Amenorrhea, Erectile dysfunction, Hypothyroidism,... ORPHA:465508
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis OMIM:154800
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Cardiomegaly, Anemia ORPHA:858
Acute Lung Injury
Abnormality of serum cytokine level, Abnormality of tumor necrosis factor secretion, Increased ci... ORPHA:178320
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level OMIM:617006
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Skeletal muscle atrop... OMIM:256550
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffic... OMIM:260370
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Insulin-resistant diabetes mellitus, Pancreatitis ORPHA:435651
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Acne OMIM:615363
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Mastocytosis
Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the ski... ORPHA:98292
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Joint contracture of the 5th finger, Cutaneous mastocytosis OMIM:248910
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity ORPHA:444463
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Pancreatitis OMIM:618805
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Patent ductus a... OMIM:616867
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, Mus... OMIM:258450
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Hypertension, Cerebral hemorrhage, Cardiomegaly, Anemia OMIM:618886
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Anemia, High-output... OMIM:187300
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Splenomegaly, Type II diabetes mellitus, Pancre... ORPHA:90970
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Impaired oxidative burst, Ulcerative colitis, Acute pancreatitis, Perianal abscess... OMIM:618935
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Vacuolate... ORPHA:167
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Pancreatitis ORPHA:70578
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Anemia, Pulmonary a... OMIM:600376
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly, Anemia OMIM:618838
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Myofibrillar myopath... ORPHA:34516
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Neonatal respiratory distress, Stridor, Aspiration ORPHA:2004
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Cap Myopathy
Abnormal muscle fiber morphology, Sinus tachycardia, Lower limb muscle weakness, Reduced systolic... ORPHA:171881
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hypertension, Hepatomegaly, Priapism, Increased red cell sickling... OMIM:603903
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypothyroidism, Type I diabetes mellitus, Pancreatitis, Type II diabetes mellitus ORPHA:412057
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Patent ductus arteriosus, Histiocytosis, Cardiomegaly, Pulmonary arterial hyperten... OMIM:602782
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Congestive heart failure, Generalized amyotrophy, Rimmed vacuoles, ... ORPHA:52430
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Eosinophilia... ORPHA:75565
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Von Hippel-Lindau Syndrome
Pheochromocytoma, Polycythemia, Paraganglioma, Hypertension OMIM:193300
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericardial constriction OMIM:253250
Legionnaires Disease
Endocarditis, Pericarditis, Jaundice, Hepatitis, Splenomegaly, Encephalitis, Pancreatitis, Myocar... ORPHA:549
Marburg Hemorrhagic Fever
Skin rash, Jaundice, Pancreatitis ORPHA:99826
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Thrombocytosis, Hyperinsulinemic hypoglycemia, Leukocytosis, Polyc... ORPHA:2968
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Secundum atrial septal defect, Flexi... OMIM:616866
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Eosinophilopenia
Autoimmunity OMIM:131430
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Impotence, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Propionic Acidemia
Hepatomegaly, Eczema, Hypoglycemia, Pancreatitis OMIM:606054
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Sudden cardi... OMIM:201475
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Internally nucleated skeletal muscle fibers, Muscu... ORPHA:98905
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Perianal abscess, Diabet... ORPHA:444490
Hennekam-Beemer Syndrome
Camptodactyly of finger, Arrhythmia, Hypotension, Telangiectasia of the skin, Mastocytosis ORPHA:2135
Maculopapular Cutaneous Mastocytosis
Cutaneous mastocytosis, Cardiac arrest, Telangiectasia of the skin ORPHA:79457
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Microscopic Polyangiitis
Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Uveitis, Episcleritis, Pan... ORPHA:727
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Cach Syndrome
Pancreatitis, Hepatosplenomegaly, Optic neuritis ORPHA:135
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi... ORPHA:85410
Roifman Syndrome
Noncompaction cardiomyopathy, Decreased circulating antibody level, Hypogonadotropic hypogonadism... ORPHA:353298
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis OMIM:251000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Primary Sclerosing Cholangitis
Cirrhosis, Polyclonal elevation of IgM, Thyroiditis, Hepatocellular carcinoma, Uveitis, Ulcerativ... ORPHA:171
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Impotence, Hepatomegaly, Cardiomegaly, Skeletal muscle atr... OMIM:268800
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Increased serum interferon-gamma level, Decreased c... ORPHA:540
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Microsporidiosis
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Biliary... ORPHA:2552
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Muscular edema, Eosinophilia, Myositis ORPHA:3165
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Centrally nucleated skeletal... OMIM:255320
Familial Aortic Dissection
Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Increased pulmonary vascular resistance, Hypertension, Right ventricul... OMIM:178600
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Enlarged kidney, Increased muscle lipid content, ... OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Anemia of inadequate producti... OMIM:615631
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology ORPHA:1164
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Pancytopenia, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Diabetes mellitus ORPHA:412
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Splenomegaly, Hip contract... OMIM:616651
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Hypergonadotropic hypogonadism, Rhabdomyolysis, Primary amenorrhea,... OMIM:157640
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Delayed puberty, Multip... ORPHA:486815
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Impotence, Orthostatic hypotension, Syncope ORPHA:441
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Cleft Larynx, Posterior
Aspiration OMIM:215800
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Igg4-Related Kidney Disease
Prostatitis, Abnormality of mesentery morphology, Increased circulating IgG1 level, Arteritis, Pe... ORPHA:449395
Systemic Capillary Leak Syndrome
Pericarditis, Pancreatitis, Myocarditis ORPHA:188
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of the thyroid gland, Abnormality of neutrophi... ORPHA:542592
Igg4-Related Aortitis
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449400
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Pancreatitis, Abnormality of thyroid physiology, Bone marrow hypocellul... ORPHA:1830
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Anemia... OMIM:224120
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, P... OMIM:306955
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Eisenmenger Syndrome
Ventricular arrhythmia, Patent ductus arteriosus, Tricuspid regurgitation, Pulmonary arterial hyp... ORPHA:97214
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly, Diabetes mellitus ORPHA:280365
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hepatoce... ORPHA:562
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Flexion contracture, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Increased vari... ORPHA:401768
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Gout, Pancreatitis OMIM:232200
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Epistaxis, Sudden... ORPHA:906
Fucosidosis
Macroglossia, Vacuolated lymphocytes, Flexion contracture, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Type 1 muscle fib... OMIM:254090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Myo... OMIM:253600
Coccidioidomycosis
Peritonitis, Skin rash, Folliculitis, Increased circulating IgM level, Pericarditis, Panniculitis... ORPHA:228123
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangitis, Congenital hepatic fibr... ORPHA:480520
Mirizzi Syndrome
Gallbladder perforation, Cholesterol gallstones, Cholelithiasis, Jaundice, Abnormality of the duc... ORPHA:521219
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Gout, Pancreatitis OMIM:232220
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Spontaneous, recurrent epistaxis, Impaired neutrophil ... OMIM:214500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Pachygyria, Renal tubular epithelial necrosis, Abnormality of neuronal migration, Hep... ORPHA:228308
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... OMIM:607459
Cryptosporidiosis
Cholangitis, Biliary tract abnormality, Pancreatitis ORPHA:1549
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Sinusitis, Nephritis, Parotitis ORPHA:449427
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hep... OMIM:151660
Citrullinemia Type Ii
Hepatic steatosis, Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegaly, Pancreatitis ORPHA:247585
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Fucosidosis
Hepatomegaly, Hypothyroidism, Decreased muscle mass, Cardiomegaly ORPHA:349
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmunity, Decrease... OMIM:613011
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolemic shock, Cardiom... ORPHA:158687
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis ORPHA:26791
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Hepatomegaly, Thrombocytopenia, Cardiomegaly, Anemia, Splenom... OMIM:608013
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemic seizures, Thyroiditis, Hepatocellular carcinoma... ORPHA:79259
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid arthritis, Decreased circulating IgA lev... ORPHA:275
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Truncus Arteriosus
Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor... ORPHA:3384
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Splenomegaly, Diabetes mellitus, Inflammatory abnormality of the skin ORPHA:565612
Zygomycosis
Peritonitis, Pustule, Nephritis, Endocarditis, Pericarditis, Splenic abscess, Acute infectious pn... ORPHA:73263
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Psoriasis-Related Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Abnormality of tumor necrosis factor secretion ORPHA:85436
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Omenn Syndrome
Severe B lymphocytopenia, Hepatomegaly, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytop... OMIM:603554
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Hypertension,... ORPHA:183
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Mucosal telangie... ORPHA:2463
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Aortic regurgitation, Hepatomegaly, Heart murmur, Congestive heart... OMIM:252500
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, EMG: myopathic abnormalities, Increased intramyocellular lipid... ORPHA:502423
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Increased variability in muscle fiber diameter OMIM:619026
Spinocerebellar Ataxia Type 8
Urinary incontinence, Impotence, Aspiration ORPHA:98760
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Orchitis, Erysipelas, Pancreatitis, Splenomegaly, Osteoarth... ORPHA:342
Immunodeficiency 36
Autoimmunity, Decreased circulating antibody level OMIM:616005
Sweet Syndrome
Increased circulating interleukin 6, Abnormal serum interleukin level, Elevated circulating C-rea... ORPHA:3243
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Macroglossia, Arrhythmia, Flexion contracture of finger, Microcytic anem... OMIM:256040
Igg4-Related Ophthalmic Disease
Prostatitis, Increased circulating IgE level, Thyroiditis, Orchitis, Increased circulating IgG4 l... ORPHA:449563
Melas
Hypothyroidism, Recurrent pancreatitis, Type I diabetes mellitus, Type II diabetes mellitus, Diab... ORPHA:550
Abetalipoproteinemia
Reticulocytosis, Hypothyroidism, Hepatomegaly, Congestive heart failure, Distal lower limb muscle... ORPHA:14
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Paroxysmal atrial fibrillation, Autophagic vacuoles, Distal amyotro... OMIM:164310
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Acute pancreatitis, Hepatomegaly, Jaundice, Recurrent hypoglycemia, Lipi... ORPHA:20
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Peripheral Primitive Neuroectodermal Tumor
Jaundice, Neoplasm of the pancreas, Pancreatitis ORPHA:370348
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Cystic Fibrosis
Chronic sinusitis, Cirrhosis, Exocrine pancreatic insufficiency, Bronchiectasis, Biliary cirrhosi... OMIM:219700
Dermatomyositis
Arrhythmia, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial infarction, I... ORPHA:221
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Erythroderma, Colitis, Portal fibrosis, Chronic hepatitis, ... ORPHA:3260
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Budd-Chiari syndrome, Abnormal spleen mo... ORPHA:284
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Myopathy, Fatty replacement of skeletal... ORPHA:397744
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter OMIM:619334
Pauci-Immune Glomerulonephritis
Scleritis, Arteritis, Glomerulonephritis, Tubulointerstitial nephritis, Pancreatitis, Crescentic ... ORPHA:93126
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Hepatomegaly, Anemia, ... ORPHA:39041
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly, I... OMIM:608594
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Pericarditis, Increased inflammatory response, Chronic otitis media, Infl... ORPHA:900
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Hypoproteinemia ORPHA:90363
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... OMIM:613470
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Neonatal insulin... ORPHA:96191
Myopathy, Mitochondrial, And Ataxia
Primary amenorrhea, Distal amyotrophy, Increased circulating prolactin concentration, Hyperthyroi... OMIM:617675
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Gout, Hepatoblastoma OMIM:232240
Cystic Echinococcosis
Peritoneal abscess, Abnormal heart morphology, Increased circulating antibody level, Hepatomegaly... ORPHA:400
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly, I... OMIM:269700
Developmental And Epileptic Encephalopathy 95
Macroglossia, Arthrogryposis multiplex congenita, Hepatomegaly, Multiple joint contractures, Card... OMIM:618143
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pneumonia, Septic arthritis, Pancreatitis, Myocarditis, Diabetes mellitus ORPHA:544482
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Flexion contracture, Rhabdomyolysis, Patent ductus art... ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Delayed puberty, Right... OMIM:300967
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Congenital diaphragmatic hernia, Cardiomegaly, Left ventricular hypertrophy... OMIM:245600
Lysinuric Protein Intolerance
Cirrhosis, Decreased circulating antibody level, Increased circulating antibody level, Membranous... ORPHA:470
Aicardi-Goutières Syndrome
Hypothyroidism, Chronic lymphatic leukemia, Multiple joint contractures, Cardiomegaly, Diabetes m... ORPHA:51
Primary Parathyroid Hyperplasia
Primary hyperparathyroidism, Pancreatitis ORPHA:99878
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Atelectasis, Intercostal muscle weakness, Respiratory... ORPHA:258
O'Sullivan-Mcleod Syndrome
Hand muscle weakness, Intrinsic hand muscle atrophy, Increased circulating antibody level, Eosino... ORPHA:99965
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Amyotrophic Lateral Sclerosis 21
Aspiration, Respiratory insufficiency due to muscle weakness OMIM:606070
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Macroglossia, Abnormal mitral valve morphology, Flexion contracture, A... ORPHA:581
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Thyroiditis, Cardiac arrest, Myocarditis, Eosinophilia ORPHA:139402
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Reduced renal corticomedullary differentiation, Respiratory distress, Aspir... OMIM:618733
Familial Adenomatous Polyposis
Thyroiditis, Hypothyroidism, Biliary tract obstruction, Pancreatitis, Neoplasm of the gallbladder... ORPHA:733
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Pancreatitis ORPHA:90038
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Hepatosplenomegaly, Eosinophilia OMIM:618999
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia, Telangiectasia of the oral mucosa ORPHA:79280
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Lower limb hypertonia, Congenital contract... ORPHA:97297
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegal... OMIM:130650
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ... OMIM:109270
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatic steatosis, Hepatomegaly, Cholecystitis, Diabetes mellitus ORPHA:98908
Tay-Sachs Disease
Aspiration OMIM:272800
Greenberg Dysplasia
Extramedullary hematopoiesis, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Bone marrow hypocel... OMIM:215140
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis ORPHA:36426
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Toxic Epidermal Necrolysis
Conjunctivitis, Pancreatitis ORPHA:537
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Eosinophilia, Corneal neovascularization, Melena OMIM:158310
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Primary hyperparathyroidism, Pancreatic adenocarcinoma ORPHA:99880
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Respiratory insufficiency due to muscle weakness ORPHA:600
Parathyroid Carcinoma
Pancreatitis, Primary hyperparathyroidism, Pancreatic adenocarcinoma ORPHA:143
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:222700
Opitz Gbbb Syndrome, Type I
Hypospadias, Aspiration OMIM:300000
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Pachygyria, Type II lissencephaly, Skeletal muscle hypertrophy, Muscular dystrophy,... OMIM:613150
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Skele... ORPHA:90045
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Card... OMIM:182250
Visceral Myopathy 1
Pancreatitis OMIM:155310
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Increased circul... OMIM:301000
Scorpion Envenomation
Acute pancreatitis, Glycosuria, Hyperhidrosis, Myocarditis, Hyperglycemia ORPHA:466677
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Esophagitis, Horseshoe kidney, Hypospadias, Obstructive sleep apnea, Aspiration ORPHA:96182
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Aspiration OMIM:618922
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Adrenal calcification, Pericardia... ORPHA:51608
Williams Syndrome
Abnormal endocardium morphology, Mitral regurgitation, Patent ductus arteriosus, Cerebral ischemi... ORPHA:904
Familial Hypocalciuric Hypercalcemia
Pancreatitis ORPHA:405
Native American Myopathy
Arthrogryposis multiplex congenita, Camptodactyly, Congenital contracture, Abnormality of skeleta... ORPHA:168572
Esophageal Atresia
Esophagitis, Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Yunis-Varon Syndrome
Atrial septal defect, Pachygyria, Ventricular septal defect, Renovascular hypertension, Hypertens... ORPHA:3472
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:233710
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis OMIM:233690
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Aspiration OMIM:618651
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Aspiration ORPHA:2131
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Elevated pulmonary arte... OMIM:615343
Opitz Gbbb Syndrome, Type Ii
Pulmonary arterial hypertension, Hypospadias, Aspiration, Abnormality of the ureter OMIM:145410
Adnp Syndrome
Urinary incontinence, Respiratory distress, Aspiration ORPHA:404448
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Alström Syndrome
Cirrhosis, Hyperinsulinemia, Insulin resistance, Decreased circulating T4 level, Hepatic steatosi... ORPHA:64
Bilateral Perisylvian Polymicrogyria
Apnea, Aspiration ORPHA:98889
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aspiration, Pneumonia, Nephrolithiasis, Hydronephrosis, Asthma, Vesicoureteral reflux, Hypospadia... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aspiration, Pneumonia, Nephrolithiasis, Hydronephrosis, Asthma, Vesicoureteral reflux, Hypospadia... ORPHA:353284
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.

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