Not currently registered for phenotyping at IMPC

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

Gene Summary

prospero homeobox 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Prox1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Prox1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal cardiovascular sy... ORPHA:50251
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Acute ... ORPHA:36238
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Gastroesophageal r... ORPHA:2414
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Excessive insulin response to glucagon test, Large for gestationa... ORPHA:324575
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Gastroesophageal reflux, Cellulitis, Noni... OMIM:616843
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Abnormal pleura morphology, Thrombocytope... ORPHA:797
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Elevated ... OMIM:619644
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Reticulonodular pattern on pulmonary HRCT,... ORPHA:79126
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Hepatomegaly,... ORPHA:363400
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Anemia, Leukocytosis, Cervical lym... ORPHA:3392
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... OMIM:235200
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... OMIM:604367
Retinal hamartoma, Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Cough, Pne... ORPHA:538
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... OMIM:612387
Lymphatic Malformation 9
Predominantly lower limb lymphedema, Tortuous lymphatic vessels OMIM:619319
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Perching Syndrome
High palate, Respiratory distress, Flexion contracture, Rod-cone dystrophy, Camptodactyly, Dysphagia OMIM:617055
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Vitritis, Osteomyeli... ORPHA:1163
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... ORPHA:454836
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... ORPHA:276556
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating acylcarnitine concentration, Failure to thrive, Ketoti... ORPHA:26792
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Congenital Enterovirus Infection
Respiratory distress, Hepatic failure, Cholestasis, Myocarditis, Hydrops fetalis, Hepatitis, Feta... ORPHA:292
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Ataxia, Hepatomegaly, Emphysema, Skin rash, Splenomegaly, Arthritis, Cough, A... ORPHA:36412
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Abnormality of the endocrine system, Diabetes m... ORPHA:2905
Hennekam Syndrome
Malabsorption, Lymphangioma, Lymphopenia, Chylothorax, Hypocalcemia, Splenomegaly, Pulmonary lymp... ORPHA:2136
Bardet-Biedl Syndrome 16
Respiratory distress, Retinal degeneration, Rod-cone dystrophy, Bronchiolitis, Recurrent otitis m... OMIM:615993
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chylothorax, Cellulitis, Retinopathy, Retinal detachment, Ch... ORPHA:2526
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphedema, Pleural eff... ORPHA:545
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... ORPHA:913
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Cough, Intestinal obstru... ORPHA:67
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistance, Decreased... OMIM:615703
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Waldenström Macroglobulinemia
Ataxia, Urticaria, Hepatomegaly, Cutis marmorata, Pedal edema, Periorbital edema, Gastrointestina... ORPHA:33226
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Dysphagia, Abnormal... ORPHA:77260
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, C... ORPHA:528
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Mahvash Disease
Type II diabetes mellitus, Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatiti... OMIM:619290
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Hepatomegaly, Elevated circulating C-reactive protein concentration, Skin rash, S... ORPHA:85414
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Anemia, Decrease... ORPHA:90362
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... OMIM:615710
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Respiratory distress, Urticaria, Pancreatitis, Neutrophilia, Vasculi... ORPHA:3260
Pontocerebellar Hypoplasia, Type 13
High palate, Decreased liver function, Asthma, Sleep apnea, Inability to walk, Failure to thrive,... OMIM:618606
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia... ORPHA:79312
Keratitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Cellulitis, Peritonitis, Arthritis,... ORPHA:228119
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Malabsorption, Intussusception, Cirrhosis, Right ventricular failure,... ORPHA:90363
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Chylothorax, Polyhydramnios, Thymus hyperplasia, Neonatal respiratory distress, Congenital contra... OMIM:619036
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Bronchial breath sound, Sinusitis, Osteomyelitis, Abnormal jejunum morphology, Pleural empyema, E... ORPHA:449280
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... ORPHA:2302
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Eczema, Ly... OMIM:618935
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial ... ORPHA:723
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevat... OMIM:617049
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Celluliti... ORPHA:90186
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Myocarditis, Hematochezia, A... ORPHA:73263
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... ORPHA:167
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Orthostatic hypotension, Cutis ... OMIM:606721
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Cleft palate, Aspiration pneumonia, Weight loss, Upper airway obstruction, ... ORPHA:141152
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Fryns Syndrome
Anal atresia, Duodenal atresia, Stillbirth, Chylothorax, Cleft palate, Joint contracture of the h... OMIM:229850
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Arrhythmia, Abnormality of the gastrointest... ORPHA:1041
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Vascular skin abnormality, Chylothorax, Nonimmune hydrops f... ORPHA:137667
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Insu... OMIM:613327
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Weight loss, Respiratory... ORPHA:31204
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis, Cyanosis OMIM:219400
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... OMIM:606069
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis, Progeroid facial appearance, Insulin resistance, Hepatic steatosis ORPHA:79087
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Loss of subcu... OMIM:151660
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentra... OMIM:619048
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis... ORPHA:781
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hyperbilirubinemia, Skin rash, Tachycardia, Arrhythmia, Hypotension, Tachypnea, ... ORPHA:542323
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal in... ORPHA:436182
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Leukocytosis, Arrhythmia, Myocarditis, Hypotension, Cough, Pedal e... ORPHA:188
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... OMIM:615238
Cryptogenic Organizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Hypoxe... ORPHA:1302
Pulmonary Arteriovenous Malformation
Telangiectasia, Bacterial endocarditis, Hypoxemia, Hemothorax, Pleural empyema, Pulmonary hemorrh... ORPHA:2038
Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, P... ORPHA:1304
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... ORPHA:791
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Abnormal intestine morphology, Hyperinsulinemia OMIM:606528
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... ORPHA:66628
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Otitis media, Hypergonadotropic hypogon... OMIM:203800
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Decreased liver function, Failure to thrive, Hepatomegaly, Flexion contract... ORPHA:367
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Buphthalmos, Cholestasis, Pancreatic hypoplasia, Hepat... OMIM:610199
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Lymphatic Malformation 2
Lymphedema OMIM:611944
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Chylothorax, Pleural effusion, Dyspnea, Respiratory fa... ORPHA:3015
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Ankle flexion contracture, Ataxia, Hepatomegaly, High, n... OMIM:608799
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Cleft palate, Hepatic failur... OMIM:619573
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Failure to thrive, Gastroesophageal reflux, Cleft palate, Resp... OMIM:614399
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Microangiopathic hemolytic anemia, Lymphopenia, Nephritis, Skin rash, Raynaud... ORPHA:93552
Respiratory distress, Gait imbalance, Elevated circulating C-reactive protein concentration, Hype... ORPHA:673
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Neonatal death, Camptodactyly, Thrombocytopenia, Dysphagia, Pulmona... OMIM:619751
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistan... ORPHA:79083
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, ... ORPHA:330001
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Progeroid facial appearance, Abnormal circulating lipid concentra... ORPHA:79086
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... ORPHA:435651
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Oligohydramnios OMIM:260370
Malignant Atrophic Papulosis
Telangiectasia of the skin, Peritonitis, Myocardial infarction, Gastrointestinal infarctions, Int... ORPHA:679
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Pneumonia, Increased circulating free fatty acid level, Anter... ORPHA:26793
Kikuchi-Fujimoto Disease
Ataxia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Vasculitis in the sk... ORPHA:50918
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Hepatomegaly, R... OMIM:232300
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas, Glucagonoma, Increas... ORPHA:438274
Sepsis In Premature Infants
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormal mucociliary clearan... ORPHA:90051
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... OMIM:306400
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Prolonged QT interval, Increased C-peptide level, El... ORPHA:71212
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Respiratory distress, Urticaria, Gastritis, Eczema, Decreased prealbum... ORPHA:37042
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Decreased serum leptin, Abnormal eating behavior, P... OMIM:614962
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Optic atrophy, Hypoglycemi... OMIM:261680
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Hepatomegaly, Uveitis, Pancytopenia, Weight loss, Splenomegaly, Inflammation of th... OMIM:181000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyper... OMIM:251000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Ataxia, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating cr... ORPHA:42
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypothyroidism, Elevated h... OMIM:619013
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Pro... ORPHA:280365
Behçet Disease
Ataxia, Pancreatitis, Myocardial infarction, Increased inflammatory response, Acne, Gastrointesti... ORPHA:117
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Respiratory ... OMIM:201475
Kaposiform Lymphangiomatosis
Lymphangioma, Bruising susceptibility, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morpholo... ORPHA:464329
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Abno... OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Ataxia, Inability to walk, Gastroesophageal reflux, Failure to thrive, ... ORPHA:70472
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Petechiae, Hepatomegaly, Cerebral hemorrhage, Respiratory in... OMIM:617397
Esophageal Atresia
Respiratory distress, Oral aversion, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, P... ORPHA:1199
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Mandibuloacral Dysplasia
High palate, Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lip... ORPHA:2457
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Apnea, Hyposerinemia, Cyanotic episode OMIM:610992
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... OMIM:264470
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Lymphadenopathy, Abnormalit... ORPHA:228123
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotrop... ORPHA:3085
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Increased fecal porphyrin, Decreased hepcidin level... ORPHA:101330
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Polyphagia, Postural hypotension with compens... ORPHA:369873
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Pleural eff... OMIM:602248
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive, Hepatic steatosis OMIM:615595
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... OMIM:212140
Acute Lung Injury
Respiratory distress, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:178320
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Retinopathy, Macrovesicular hepatic steatosis, Hypertrophic card... OMIM:618234
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodystrophy, Hypertriglyceri... ORPHA:2348
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Right vent... ORPHA:70589
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomega... ORPHA:90970
Wilson Disease
Joint swelling, Failure to thrive, Hepatomegaly, Bruising susceptibility, Splenomegaly, Acute hep... ORPHA:905
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Cyanosis, Central apnea, Choreoathetosis, Lethargy, Abnormal erythrocyte morphology ORPHA:71277
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Immunodeficiency 95
Respiratory distress, Lymphopenia, Recurrent viral upper respiratory tract infections, Recurrent ... OMIM:619773
Respiratory distress, Hepatomegaly, Pulmonary hemorrhage, Thrombocytopenia, Uveitis, Macular cott... ORPHA:509
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Elevated circulating creatinine concentration, Pneumonia, Respirato... ORPHA:340
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels OMIM:153300
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... ORPHA:36234
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... OMIM:254210
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Inguinal hernia, Hyperinsulinemi... ORPHA:2849
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increase... ORPHA:79644
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Skin rash, Splenomega... OMIM:603552
Chilblain Lupus 2
Edema OMIM:614415
Ovarian Fibrothecoma
Increased serum testosterone level, Peritonitis, Abnormal circulating hormone concentration, Pleu... ORPHA:314478
Myopathy And Diabetes Mellitus
Respiratory distress, Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Type I diab... ORPHA:2596
Respiratory distress, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Cirrhosis, P... ORPHA:1546
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:269700
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Cutis marmorata, Palpebral edema, Hyd... ORPHA:69735
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency, Increased connective t... ORPHA:238329
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis, Low-output congestive heart failure, Hypertrop... ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Erdheim-Chester Disease
Joint swelling, Ataxia, Osteomyelitis, Polydipsia, Diabetes insipidus, Skin rash, Hypogonadotropi... ORPHA:35687
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Elevated carcinoembryonic anti... ORPHA:264675
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Mitral regurgitation, Juvenile myelomonocytic leukemia, Polyh... OMIM:613563
Noonan Syndrome 8
Failure to thrive, Pulmonic stenosis, Mitral regurgitation, Eczema, Palmoplantar cutis laxa, Larg... OMIM:615355
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory distress, Hepatomegaly, Macroglossia, Respiratory failure requiring assi... ORPHA:254864
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis,... ORPHA:289916
Eosinophilic Fasciitis
Muscular edema, Abnormal eosinophil morphology, Cellulitis, Eosinophilia, Myositis, Arthritis, Fa... ORPHA:3165
Eosinophilic Granulomatosis With Polyangiitis
Urticaria, Cutis marmorata, Myocarditis, Abnormal pleura morphology, Myocardial infarction, Incre... ORPHA:183
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... ORPHA:159
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Umbilical hernia OMIM:254120
Congenital Disorder Of Glycosylation, Type Iu
High palate, Respiratory distress, Elevated circulating creatine kinase concentration, Optic atro... OMIM:615042
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Pulmonary... ORPHA:444490
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Nonimmune hydrops fetalis, Per... OMIM:212065
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanin... OMIM:618805
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... OMIM:615381
Familial Mediterranean Fever
Crohn's disease, Hepatomegaly, Orchitis, Neutrophilia, Splenomegaly, Leukocytosis, Elevated circu... OMIM:249100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Joint contracture of the hand, Thyroid lymphangiectasia, Pleural lymphangiectasia,... OMIM:235510
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... OMIM:263000
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, R... ORPHA:70587
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Supraventricular arrhythmia, Multiple joint contractures, Broad-based g... ORPHA:2959
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circula... OMIM:212138
Coach Syndrome 2
Coloboma, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibrosis, Portal fi... OMIM:619111
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Glucose intolerance, Hyperlipidemia, Progeroid facial appearance, Hyperinsulinemia, ... OMIM:608612
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Respiratory arrest, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating ... OMIM:600649
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Noonan Syndrome 1
High palate, Chylothorax, Cleft palate, High, narrow palate, Pulmonic stenosis, Amegakaryocytic t... OMIM:163950
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypothyroidism, Polyhydramnios, Hypertriglyceridemia,... OMIM:618183
Anaplastic Thyroid Carcinoma
Respiratory distress, Anaplastic thyroid carcinoma, Nodular goiter, Tracheoesophageal fistula, Go... ORPHA:142
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Myocarditis, Pneumonia, Generalized edema, Hypertension, Septic arthritis, Intussus... ORPHA:544482
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, An... ORPHA:100057
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Optic atrophy, Weight loss, Pericarditis, Chilblains, Hypothyroidism, Elevated hepa... OMIM:619487
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, ... ORPHA:567546
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Hypertrophic cardiomyopathy, Flexion contracture, Small for gestational age, Hydrop... OMIM:616897
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... ORPHA:189427
Hsd10 Disease, Infantile Type
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Hyperammonemia, Cyanosis, Optic atr... ORPHA:391428
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Polyhydramnios, Dilated cardiomyopathy, Respiratory ... OMIM:300580
Respiratory distress, Neutropenia, Cellulitis, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pne... ORPHA:238459
Primary Pigmented Nodular Adrenocortical Disease
Acne, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution... ORPHA:189439
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Congenital Myasthenic Syndrome
High palate, Ataxia, Episodic respiratory distress, Gastroesophageal reflux, Respiratory arrest, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
High palate, Ataxia, Episodic respiratory distress, Gastroesophageal reflux, Respiratory arrest, ... ORPHA:98914
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Difficulty walking, Recurrent pneumonia, Dysphag... ORPHA:254875
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... OMIM:619858
Gorham-Stout Disease
Osteomyelitis, Lymphangioma, Rhinorrhea, Pleural effusion, Edema ORPHA:73
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Sudden cardiac death, Elevated circulating aspartate aminotransferase... OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Decreased liver function, Respiratory distress, Ataxia, Hepatomegaly, Failure to thr... OMIM:220110
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Flexion contracture, Wrist flexion contracture, Elbow flex... ORPHA:1143
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Increased circulating surfactant protein level, Pneumothorax, Weight loss, Respirat... ORPHA:60025
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Pearson Syndrome
Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Hepatic failure, Corneal stromal edema, ... ORPHA:699
Lymphatic Malformation 5
Predominantly lower limb lymphedema, Facial edema, Hypoplasia of lymphatic vessels OMIM:153200
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Ataxia, Cystic pattern on pulmonary HRCT, Difficulty walking, Oxygen desatu... OMIM:610978
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Respiratory insuffic... OMIM:615486
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory distress, Failure to thrive, Splenomegaly, Respiratory insufficiency,... OMIM:615512
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effus... ORPHA:64739
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Ataxia, Hepatomegaly, Steatorrhea, Fat malabsorption, Reticulocytosis, Respiratory failure, Hypop... ORPHA:14
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, ... OMIM:608836
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Subdural hemorrhage, Retinal degeneration, Optic atrophy, Glossitis... ORPHA:79282
Failure to thrive, Gastroesophageal reflux, Elevated hepatic transaminase, Lipodystrophy, Primary... ORPHA:300536
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk, Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Rec... OMIM:617303
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, C... OMIM:603471
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Increased serum pyruvate, Hypoglycemia, Hepatomegaly OMIM:614741
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steat... ORPHA:2070
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Decreased circulating T4 concentration, Macroglossia, Congenital hypothyroi... ORPHA:226313
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Intracranial hemorr... ORPHA:284227
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circ... ORPHA:370
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cyanosis, Mediastinal lymphadenopathy, Reduced forced vi... ORPHA:91359
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Failure to thrive, Anomalous pulmonary venous return, Hepatomegaly, Left ventricul... ORPHA:860
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Truncal ataxia, Abnormal circulating creatine kinase concentration, Elevated hepati... ORPHA:369840
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age, Elevated circulating creati... OMIM:616733
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Hypothyroidism, Upper airway obstruction, Hashimoto thyroi... ORPHA:97285
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Ataxia, Mic... OMIM:256810
Chronic Graft Versus Host Disease
Airway obstruction, Pancytopenia, Weight loss, Flexion contracture, Erythema, Arthritis, Wheezing... ORPHA:99921
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Hepatomegaly, Elevated circul... ORPHA:97214
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Sleep apnea, Ataxia, Decreased ... ORPHA:300373
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Increased body weight, Porta... ORPHA:264580
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Hepatomegaly, Hepatic failure, Facial telangiectasia, Dermatological m... ORPHA:97287
Cholesterol Pneumonia
Cyanosis, Cough, Pneumonia, Tachypnea OMIM:215030
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Failure to thrive, Desquamative interstitial pneumonitis, ... OMIM:265120
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, ... OMIM:614300
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... OMIM:614582
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased sensory nerve conduction velocity, Apl... ORPHA:456312
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Acute... ORPHA:99901
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Dehydration, Syncope, O... ORPHA:230
Hyperinsulinemia, Hyperglycemia OMIM:616214
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis, Cleft palate ORPHA:2901
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Hepatomegaly, Hyperuricemia, Weight loss, Cardiac arrest, Jaundice, Dehydration, T... ORPHA:20
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Tachycardia, Apneic episodes in infancy, ... ORPHA:348
Ovarian Fibroma
Mesenteric cyst, Ascites, Peritonitis, Pleural effusion ORPHA:314473
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Tip-toe gait, Mitral regurgitation, Re... ORPHA:746
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestatio... OMIM:262190
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Flexion contracture, Dehydration, Leukopenia, Polyhydramnios, Chore... OMIM:616271
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Decreased body weight, Hepatomegaly, Petechiae, Splenomega... OMIM:608013
White Sponge Nevus 2
Edema OMIM:615785
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Increased body weight, Poor wound healing, Hypotension, Hem... ORPHA:244242
Lujo Hemorrhagic Fever
Respiratory distress, Odynophagia, Facial edema, Elevated circulating C-reactive protein concentr... ORPHA:319213
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Maternal diabetes... ORPHA:70588
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat... ORPHA:79303
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyper... OMIM:248370
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age, Cyanosis, Athetosis, Exertional dyspnea ORPHA:621
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Failure to thrive, Ataxia, Hepatomegaly, High, narrow palate, Retinopathy, Hepatosplenomegaly, El... ORPHA:79322
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Urticaria, Hepatomegaly, Hematochezia, Thrombocytop... OMIM:615846
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, High palate, Failure to thrive, Hepatomegaly, Elevated circulating creatine... ORPHA:329178
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ret... OMIM:617253
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Tracheoesophageal fistula, Nonimmune hydrops fetalis, Alveolar capillary dysplasia,... OMIM:265380
Myasthenia Gravis
Hyperthyroidism, Raynaud phenomenon, Rheumatoid arthritis, Glycosuria, Myositis, Hemolytic anemia... ORPHA:589
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Bradykinesia, Falls ORPHA:240085
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Microcornea, Coloboma OMIM:602499
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Ring Chromosome 22 Syndrome
Lymphedema, Protruding tongue, Gait ataxia, Pleural effusion, Edema ORPHA:1446
Myotonic Dystrophy 1
Cholelithiasis, Respiratory distress, Testicular atrophy, Polyhydramnios, Atrial flutter, Dysphag... OMIM:160900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Multiple pulmonary cysts, Prolonged... OMIM:619418
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Cervical lymph... OMIM:602782
Intestinal malrotation, Abnormality of the spleen, Pancreatic hypoplasia, Abnormality of abdomina... ORPHA:1666
Primary Pulmonary Hypoplasia
Apnea, Asthma, Failure to thrive, Cleft palate, Cyanosis, Tachypnea, Pneumothorax, Pulmonary hypo... ORPHA:2257
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... ORPHA:99103
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Median cleft lip and palate, Respiratory failure ORPHA:1832
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... ORPHA:298
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Brain abscess, Decreased DLCO, Cough, Restrict... OMIM:610910
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Patent Ductus Venosus
Decreased liver function, Persistent patent ductus venosus, Hyperammonemia, Hypergalactosemia, Co... OMIM:601466
Farber Disease
Respiratory distress, Joint swelling, Failure to thrive, Flexion contracture, Hepatic failure, No... ORPHA:333
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Osteomyelitis, Hepatomegaly, Pustule, Skin rash, Splenomega... OMIM:612852
Rabson-Mendenhall Syndrome
High palate, Reduced subcutaneous adipose tissue, Polydipsia, Furrowed tongue, Precocious puberty... ORPHA:769
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Hypocalcemia, Cleft palate, Pulmonic stenosis, Intestinal ... ORPHA:3426
X-Linked Centronuclear Myopathy
High palate, Respiratory distress, Inability to walk, Respiratory failure requiring assisted vent... ORPHA:596
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Hemochromatosis Type 4
Increased circulating ferritin concentration, Joint swelling, Cirrhosis, Congenital hepatic fibro... ORPHA:139491
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Cholestasis, Esophageal varix, Pancytopenia, Bile duct proliferation, Respiratory fa... OMIM:613658
Rett Syndrome
Failure to thrive, Inability to walk, Bradykinesia, Hyperammonemia, Increased serum pyruvate, Inc... ORPHA:778
Multiple Carboxylase Deficiency
Respiratory distress, Ataxia, Skin rash, Hyperammonemia, Tachypnea, Optic atrophy, Lethargy ORPHA:148
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... ORPHA:563
Acquired Methemoglobinemia
Respiratory distress, Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope... ORPHA:464453
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Progeroid facial appearance, Retinal degeneration, ... ORPHA:79474
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft palate, Coloboma OMIM:120433
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Optic nerve hypoplasia OMIM:609069
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Hypoadrenocorticism, Familial
Adrenal insufficiency, Apnea, Cyanosis, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia OMIM:240200
Decreased response to growth hormone stimulation test, Rod-cone dystrophy, Coloboma, Optic atroph... ORPHA:324737
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Hepatomegaly, Tricuspid regurgitation, Palpitations, Mids... ORPHA:1677
Microphthalmia, Isolated 4
Absent testis, Coloboma OMIM:613094
Lysosomal Acid Lipase Deficiency
Hepatic failure, Steatorrhea, Esophageal varix, Weight loss, Jaundice, Dehydration, Elevated hepa... ORPHA:275761
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Ataxia, Failure to thrive, Hepatomegaly, Glycosuria, Pigmentary retinop... ORPHA:436271
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pleural effu... OMIM:167800
Histiocytoid Cardiomyopathy
Hepatomegaly, Cleft palate, Optic atrophy, Right bundle branch block, Atrioventricular block, Tac... ORPHA:137675
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Developmental cataract, Ocular anterior segment dysgenesis, Coloboma ORPHA:324416
Craniofaciofrontodigital Syndrome
Respiratory distress, Pyloric stenosis, Large for gestational age, Gastrointestinal hemorrhage, G... ORPHA:363705
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Oligohydramnios, Lipoatrophy ORPHA:261304
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... ORPHA:210136
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Hyperammonemia, Eczema, Keratoconjunctivitis, Tachypnea, Perioral e... ORPHA:79242
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Urticaria, Hepatomegaly, Peritonitis, Erythema, Vasculitis, Arthritis, Intestinal obstruc... ORPHA:343
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Acne OMIM:615363
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Ataxia, Acute hyperammonemia, Hepatomegaly, Hyperammonem... ORPHA:927
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carnitine, Hepatic st... OMIM:201450
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Lymphangiectasia, Intestinal
Pedal edema, Edema, Intestinal lymphangiectasia OMIM:152800
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress, Abnormal retinal morphology, Hypoplastic spleen ORPHA:89844
Toxic Epidermal Necrolysis
Respiratory distress, Polydipsia, Pancreatitis, Tracheoesophageal fistula, Sudden cardiac death, ... ORPHA:537
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Retinopathy, Acanthocytosis, Elevated hepatic transaminase, Hypoc... ORPHA:71
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Macroglossia, Edema ORPHA:1423
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Papilledema, Iritis, Rheumatoid arthritis, Pleural effusion, Hy... OMIM:108050
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Hereditary Angioedema Type 1
Intestinal edema, Pharyngeal edema, Respiratory distress, Urticaria, Facial edema, Dermatographic... ORPHA:100050
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Reduced dihydropyrimidine dehydrogenase level, Coloboma OMIM:274270
Osteootohepatoenteric Syndrome
Asthma, Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Dehydration, Ileoileal ... OMIM:619377
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Hyperammonemia, Lethargy, Increased level of L-glutamic ... OMIM:237310
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Tachypnea, Hypoglycemia, Increased h... OMIM:220111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Hyperuri... ORPHA:79259
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Esophageal varix... OMIM:232500
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Dehydration, ... OMIM:251110
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... ORPHA:77297
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Nonprogressive cerebellar ataxia, Optic a... OMIM:610198
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Elevated circulating creatine kinase concentration, Cough, Difficulty walki... ORPHA:86812
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Hip contracture, Respiratory distress, Mildly elevated creatine kinase, Respiratory ... ORPHA:1145
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Decreased liver function, Apnea, Ataxia, Failure to thrive, Pulmonic stenos... ORPHA:70474
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Broad-based gait, Optic atrophy, Difficulty walking ORPHA:79097
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma OMIM:610023
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, C... ORPHA:439
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Hepatomegaly, Bradykinesia, Cleft palate, Macrovesicular hepatic steatosis, Ch... OMIM:614924
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Glycosuria, Neonatal death, Elevated circulating gl... OMIM:231680
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hypothyroidism, Elevated hepatic transaminase, Infection associated neutro... ORPHA:445038
Postsynaptic Congenital Myasthenic Syndromes
High palate, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertio... ORPHA:98913
Aicardi-Goutieres Syndrome 1
Inability to walk, Hepatomegaly, Multiple gastric polyps, Petechiae, Splenomegaly, Erythema, Chil... OMIM:225750
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Dehydration, ... OMIM:251100
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Premature graying of hair, Gastroesophageal reflux, Cirrhosis, Crackles, Aplastic anemia, Reticul... OMIM:614742
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Ataxia, Optic neuropathy, Hepatomegaly, Failure to thrive, Splenomegaly, Concentric hypert... OMIM:252010
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... ORPHA:79128
Ethylene Glycol Poisoning
Ataxia, Episodic respiratory distress, Pulmonary edema, Gastritis, Hypocalcemia, Cyanosis, Tachyc... ORPHA:31826
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Interstitial pneumonitis, Eosinophilia,... ORPHA:139402
Bangstad Syndrome
Ataxia, Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Gait ataxia, Weight loss OMIM:612075
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Glucose intolerance, Truncal ataxia, Joint contracture of the 5th finger, Impa... OMIM:614407
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth hormone stimulation... ORPHA:811
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Failure to thrive, Gastroesophageal reflux, Cleft palate, Macroglossia, Abnormality ... ORPHA:453499
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
High palate, Respiratory distress, Arthrogryposis-like hand anomaly, Paradoxical respiration, Rec... OMIM:620011
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Bradykinesia, Respiratory distress ORPHA:240103
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... OMIM:208540
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Cough, Inf... ORPHA:3386
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Intestinal malrotation, Pulmonary hypoplas... ORPHA:2140
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Failure to thrive, Paroxysmal dyspnea, Cyanosis, Stridor, Severel... ORPHA:444013
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Elevated circulating creatine kinase concentration, Waddling ... ORPHA:52430
High palate, Respiratory distress, Apnea, Pulmonary edema, Hepatomegaly, Inappropriate antidiuret... ORPHA:79330
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Dehydration, Retinopathy ORPHA:99885
Gitelman Syndrome
Respiratory distress, Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Primary hyperal... ORPHA:358
Abruzzo-Erickson Syndrome
Cleft palate, Microcornea, Coloboma, Iris coloboma, Cryptorchidism, Chorioretinal coloboma ORPHA:921
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Weight loss, Pleur... ORPHA:29073
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Retinopathy, Mediasti... ORPHA:158029
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Respiratory distress, Airway obstruction, Inability to walk, Thrombocy... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Oligohydramnios, Elevated hepatic transaminase ORPHA:261265
Brain-Lung-Thyroid Syndrome
Respiratory distress, Ataxia, Falls, Abnormal eating behavior, Respiratory failure, Hypoparathyro... ORPHA:209905
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with epi... ORPHA:100085
Tetrasomy 5P
High palate, Respiratory distress, Failure to thrive, Cyanosis, Heart murmur, Pulmonary hypoplasi... ORPHA:3309
Congenital Tracheal Stenosis
Respiratory distress, Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological ... ORPHA:141127
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Failure to thrive, Pancreatitis, Inguinal hernia, Cutis marmorata, Hyperhomocystinem... OMIM:236200
Angina pectoris, Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol... ORPHA:412
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Hepatomegaly, Macroglossia, Left ventricular outflow tra... ORPHA:308552
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Respiratory distress, Inability to walk, Hepatomegaly, Flexion contracture, Optic at... OMIM:619383
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Thymic Tumor
Neuroendocrine neoplasm, Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Co... ORPHA:100100
Infantile Liver Failure Syndrome 1
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... OMIM:615438
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Chorioretinal hyperpigmentation, Respiratory insuffi... OMIM:618329
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis, Tachycardia, Internal hemorrhage, Vol... ORPHA:335
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive, Ataxia, Gastroesophageal reflux, Hyponatremia OMIM:618426
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Pancytopeni... OMIM:603553
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Pylor... ORPHA:93111
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Pulmonary edema, Hepatomegaly, Congestive heart f... OMIM:115197
Moebius Syndrome
High palate, Respiratory distress, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Bifid uvula... OMIM:157900
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... ORPHA:90068
Duodenal Atresia
Annular pancreas, Polyhydramnios, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Increased circulating prolactin concentration, Central diabetes insipidus, Gastrointe... ORPHA:293987
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron defi... OMIM:226300
Prader-Willi Syndrome
Abdominal obesity, Sleep apnea, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemi... OMIM:176270
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala... ORPHA:228308
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Inability to walk, Hyperinsulinemia, Hypergonadotropic hypogo... ORPHA:273
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t... OMIM:245590
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis, Neonatal death OMIM:615918
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... OMIM:618641
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Dermatological manifestations ... ORPHA:100076
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts, Lymphedema OMIM:211890
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377