Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prospero homeobox 1
Synonyms:
A230003G05Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 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
phenotypes
Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,... ORPHA:36238
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive h... ORPHA:2414
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large for gestational age, Hypogl... ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Dysphagia, Joint contracture, Rod-cone dystrophy, Ca... OMIM:617055
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyph... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De... ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentration, Crackle... ORPHA:79126
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... ORPHA:797
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombo... ORPHA:3392
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Retinal hamartoma, Ate... ORPHA:538
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy,... OMIM:612387
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... OMIM:235200
Aspergillosis
Sinusitis, Vitritis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chroni... ORPHA:1163
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... ORPHA:276556
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Opt... ORPHA:26792
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... OMIM:265300
Hennekam Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Malabsorption, Lymphedema, Splenomegal... ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:619386
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Hype... ORPHA:79312
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Congenital Enterovirus Infection
Respiratory distress, Polyhydramnios, Fetal ascites, Hydrops fetalis, Leukopenia, Hypoalbuminemia... ORPHA:292
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Ataxia, Pericardial effusion, Splenomegaly, Angioedema, Dy... ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age, Pericardial effusion, Optic atrophy, ... OMIM:614702
Poems Syndrome
Papilledema, Diabetes mellitus, Lipodystrophy, Edema, Pericardial effusion, Respiratory insuffici... ORPHA:2905
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Gastroesophageal reflux, Cough, Lethargy, Hilar lymph node enlargement, Hepatomegaly, T... OMIM:620233
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Anorexia, Periorbital edema, Pedal edema, Hepatome... ORPHA:33226
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Congenital Heart Block
Cyanosis, Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Con... ORPHA:60041
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, High palate,... OMIM:620278
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... ORPHA:276608
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Elevated circulating C-reac... ORPHA:1302
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis, Hypogonadism, Rec... OMIM:615993
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations, Type II diabetes mellitu... OMIM:619290
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple... ORPHA:77260
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Edema, Pe... ORPHA:90362
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Dyspnea, Leuk... ORPHA:67
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Precocious pubert... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Focal Segmental Glomerulosclerosis 1
Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites, Anemia OMIM:603278
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Polyhydramnios, Congenital contracture, Chylot... OMIM:619036
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Diabetes mellitus, Progressive loss of facial adipose t... OMIM:608709
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Hypocholesterolemia, Constrictive perica... ORPHA:90363
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis... ORPHA:31204
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Necrolytic migratory erythema, Zollinger-Ellison syn... ORPHA:438274
Fusariosis
Myositis, Sinusitis, Fasciitis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Hydrops Fetalis
Abnormality of the gastrointestinal tract, Small for gestational age, Nonimmune hydrops fetalis, ... ORPHA:1041
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... ORPHA:449280
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... ORPHA:73263
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... ORPHA:141152
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Lipodys... OMIM:613327
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni... OMIM:618935
Fryns Syndrome
Omphalocele, Meckel diverticulum, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal ma... OMIM:229850
Q Fever
Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho... ORPHA:781
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Chédiak-Higashi Syndrome
Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog... ORPHA:167
Pontocerebellar Hypoplasia, Type 13
Recurrent respiratory infections, Edema, Inability to walk, Asthma, Gait ataxia, Pleural effusion... OMIM:618606
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... ORPHA:276152
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... ORPHA:199241
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t... OMIM:606721
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft palate, Conjunc... OMIM:153400
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Acquired Partial Lipodystrophy
Lipoatrophy, Progeroid facial appearance, Insulin resistance, Lymphocytosis, Hepatic steatosis ORPHA:79087
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Anorexia, Knee ... ORPHA:1304
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentrati... OMIM:619048
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Nonimmune h... ORPHA:367
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Polyphagia, Obesity OMIM:620195
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal in... ORPHA:436182
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... ORPHA:137667
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance OMIM:618400
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Abnormal intestine morphology, Hypoglycemia OMIM:606528
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Weigh... ORPHA:188
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Skin rash, Heart blo... ORPHA:542323
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hypoalbuminemia, Hepatic f... ORPHA:79319
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Elevated circulating creatine kinase concentration... OMIM:614399
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Pulmonary Arteriovenous Malformation
Brain abscess, Liver abscess, Cyanosis, Epistaxis, Myocardial infarction, Transient ischemic atta... ORPHA:2038
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Oligohydramnios, Exocrine pancreatic insufficiency OMIM:260370
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hyperin... ORPHA:791
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia... ORPHA:330012
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Hepat... OMIM:619573
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Lymphatic Malformation 2
Lymphedema OMIM:611944
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff... ORPHA:3015
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... ORPHA:45452
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu... ORPHA:50918
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Recurrent upper respira... OMIM:618183
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Elevated circulating c... OMIM:608799
Malaria
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Ga... ORPHA:673
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... ORPHA:263455
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Edema, Steatorrhea, Hepatic fibrosis, Hypoalbum... OMIM:602579
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Congestive heart failure, Camptodactyly, Stillbirth, Dysphagia, Neo... OMIM:619751
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... OMIM:181000
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aggressive... ORPHA:905
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Increased circula... OMIM:232300
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Edema, Discoid lupus... ORPHA:93552
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... ORPHA:79083
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev... OMIM:617872
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive prote... ORPHA:178320
Sepsis In Premature Infants
Abnormal mucociliary clearance, Elevated circulating C-reactive protein concentration, Edema, Gas... ORPHA:90051
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Behçet Disease
Myositis, Anorexia, Pulmonary embolism, Myocardial infarction, Infectious encephalitis, Acne, Ata... ORPHA:117
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop... OMIM:264470
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Apnea, Hypoglycemia, Elevated circulating alanine aminotransferase concen... OMIM:261680
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Gastrointestinal dys... ORPHA:330001
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, M... OMIM:613563
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Letharg... ORPHA:71212
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I... ORPHA:37042
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Progeroid facial appearance, Insulin resi... ORPHA:79086
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k... OMIM:201475
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... ORPHA:2298
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Respiratory distress, Respirat... OMIM:613561
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Developmental g... OMIM:610199
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio... ORPHA:679
Esophageal Atresia
Respiratory distress, Polyhydramnios, Bronchitis, Maternal diabetes, Gastrointestinal dysmotility... ORPHA:1199
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Abnormal ... OMIM:619013
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Leptospirosis
Respiratory distress, Anorexia, First degree atrioventricular block, Uveitis, Cough, Papilledema,... ORPHA:509
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Nonproductive cough, Abnormal lung morphology, Recurrent... ORPHA:60032
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cere... OMIM:617397
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hypoglycemia, Cerebellar hemorrhage, ... OMIM:251000
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Neonatal a... ORPHA:79237
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... ORPHA:280365
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Increased... ORPHA:254864
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator... OMIM:607616
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Attention deficit hyperactivity diso... ORPHA:369873
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Pericardial effusion, Shortened PR interval, ... OMIM:261740
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormal lung m... ORPHA:464329
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,... ORPHA:247585
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Respiratory distress, Respiratory insufficiency, Increased connective t... ORPHA:238329
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia OMIM:615935
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, T... ORPHA:3085
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... ORPHA:340
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Abnormal erythrocyte morphology, Choreoathetosis, Lethargy ORPHA:71277
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... ORPHA:2348
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital e... OMIM:235510
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra... ORPHA:228123
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,... OMIM:610978
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... OMIM:301045
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Low-output congestive heart failure, Hypertrophic cardiomyopathy,... ORPHA:91130
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... OMIM:608594
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attentio... ORPHA:210548
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Recurrent upper respiratory tract infections, Obesit... OMIM:614962
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Pleural eff... OMIM:602248
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Hypoglycemia, Gastrointestinal dysmotility, Optic atrophy, Hyperammonemia... ORPHA:391428
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Cutis marmorata, Ab... ORPHA:69735
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Fasciitis, Sinusitis, Elevated circulating creatine kinase concen... ORPHA:36234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoatheto... ORPHA:289916
Myopathy And Diabetes Mellitus
Respiratory distress, Inability to walk, Achilles tendon contracture, Progressive cerebellar atax... ORPHA:2596
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Edema, Splenomegaly, Jaundice, Thrombocytopenia, I... OMIM:603552
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... ORPHA:35878
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Congestive heart failure, Respiratory failure, Gastroesophageal reflux... ORPHA:70472
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... ORPHA:70587
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Abnormal pancreas morphology,... ORPHA:2849
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... ORPHA:264675
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Abnormal retinal morphology, N... ORPHA:1546
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... OMIM:269700
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Ovarian Fibrothecoma
Peritonitis, Abnormal circulating hormone concentration, Increased serum testosterone level, Pleu... ORPHA:314478
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Elevated circulatin... ORPHA:159
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Arthritis,... ORPHA:3165
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Dyspnea, Chronic pulmonar... OMIM:613490
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Erdheim-Chester Disease
Polydipsia, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Ataxia, Retroperitoneal fibr... ORPHA:35687
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Noonan Syndrome 8
Eczema, Polyhydramnios, Large for gestational age, Hypertrophic cardiomyopathy, Mitral regurgitat... OMIM:615355
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, Elevated circ... OMIM:615042
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Edema, Flexion contracture, Dysmetria, Hepatic fibrosis, Hypoalbuminemia, Hypoch... OMIM:212065
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Reduced systolic function, Failure to thrive in infancy, Microcyt... OMIM:618805
Aicardi-Goutieres Syndrome 9
Edema, Hepatic fibrosis, Hypoalbuminemia, Hypothyroidism, Hepatic steatosis, Self-mutilation, Hep... OMIM:619487
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Coloboma, Portal fibrosis, Hepatic fi... OMIM:619111
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestat... ORPHA:79644
Rett Syndrome
Increased serum pyruvate, Inability to walk, Hyperammonemia, Bradykinesia, Gait disturbance, Chol... ORPHA:778
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Edema, Anorexia, Tachypnea, Dehydration, Leukopenia, Recurrent hypoglycemia, Lethargy, Hep... ORPHA:20
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... ORPHA:142
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... OMIM:240900
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... ORPHA:568051
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Minimal change glomerulonephritis, Facial edema, Hype... ORPHA:567546
Bronchial Neuroendocrine Tumor
Anorexia, Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:97287
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... OMIM:608612
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Polyhydramnios, Flexion contracture, Hydrops fetalis, Cleft palate, Hy... OMIM:616897
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Perianal abscess... ORPHA:444490
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Hepatic steatosis, Bifid uvula, Hepatomegaly,... OMIM:614921
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee f... OMIM:608836
Infection-Related Hemolytic Uremic Syndrome
Edema, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia, Acute colitis, Hyponat... ORPHA:544482
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Opt... OMIM:220110
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... ORPHA:238459
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated c... OMIM:300580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... OMIM:256810
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... ORPHA:2257
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Elevated circulating thyroid-stimulating hormone... ORPHA:226313
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Lethargy, Hepatomegaly, Abnormal EKG, Intercostal re... ORPHA:1329
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia... ORPHA:254913
Gorham-Stout Disease
Osteomyelitis, Edema, Lymphangioma, Pleural effusion, Rhinorrhea ORPHA:73
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... ORPHA:1143
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Acne, Paradoxical increased co... ORPHA:189427
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Hypoglycinemia, Apnea, Hyposerinemia OMIM:610992
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Lethargy, Failure t... OMIM:237310
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Poor wound ... ORPHA:99921
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... ORPHA:91359
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Elevated circulating ... ORPHA:2070
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Gastroesophageal reflux, Primary hypothyroidism, Fa... ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, C... OMIM:619858
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... ORPHA:2959
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M... OMIM:618234
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, ... ORPHA:70588
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ... ORPHA:699
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonem... ORPHA:927
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Respiratory distress, Failure to thrive, Hypogly... OMIM:617156
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis,... ORPHA:14
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Maternal diabetes,... ORPHA:860
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... ORPHA:264580
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hydrops fetali... ORPHA:79282
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Ring Chromosome 22 Syndrome
Edema, Lymphedema, Protruding tongue, Gait ataxia, Inappropriate behavior, Pleural effusion ORPHA:1446
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Respiratory distress OMIM:614741
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Hypertrophic cardiomyopathy, Retinopathy, Cardiomyopathy OMIM:615119
Lujo Hemorrhagic Fever
Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Facial ede... ORPHA:319213
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Increased circulating gonadotropin level, Hypovolemia, Capillary leak, Periphera... ORPHA:64739
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... ORPHA:97285
Congenital Myasthenic Syndrome
Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Polyhyd... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Polyhyd... ORPHA:98914
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... OMIM:615486
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Respiratory distress, ... OMIM:615512
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytope... OMIM:617303
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the ... ORPHA:456312
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... ORPHA:746
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Cleft palate ORPHA:2901
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Elevated circul... ORPHA:230
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstitial pneumonitis, T... OMIM:265120
Seckel Syndrome 10
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circula... OMIM:617253
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Eczema, Anorexia, Tachypnea, Hyperammonemia, Keratoconjunctivitis, ... ORPHA:79242
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Flexion contracture, Elevated circulating creati... OMIM:616733
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... ORPHA:99901
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Hypoxemia, Telangiectasia, Intracranial hemorrhag... ORPHA:284227
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Polyhydramnios, Neonatal hypoglycemia, Congestive heart failure, Fl... OMIM:616271
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, ... OMIM:277900
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Obesity, Hypogonadism, Rod-cone dystrophy, Hepatic steatosis OMIM:615996
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Hepatomegaly, Waddling gait, Limb joint contracture, Shoul... OMIM:620369
White Sponge Nevus 2
Edema OMIM:615785
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... OMIM:610198
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk, Joint contracture OMIM:617977
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Optic atrophy, Dilated cardiomyopathy, Res... OMIM:614299
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Abnormal repetitive mannerisms OMIM:616341
Dpm1-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Elevated circulating crea... ORPHA:79322
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Patent Ductus Venosus
Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decreased liver functio... OMIM:601466
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Athetosis, Methemoglobinemia, Exertional dyspnea ORPHA:621
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Decreased body weight, Apnea, Nonimmune hydrops fetalis, Poly... OMIM:608013
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... ORPHA:333
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... OMIM:160900
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Tachycardia, Intermittent hype... ORPHA:348
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr... OMIM:610910
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Falls, Bradykinesia ORPHA:240085
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Hypoalbuminemia, Hypocalcemia, High palate, Cough, Gastroesophageal reflux, Emphysema,... OMIM:613658
Ovarian Fibroma
Mesenteric cyst, Peritonitis, Ascites, Pleural effusion ORPHA:314473
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Hypoadrenocorticism, Familial
Hyponatremia, Cyanosis, Apnea, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... ORPHA:589
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... OMIM:602782
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hypothyroidism, Hepato... OMIM:615846
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Dyspnea, Elevated circulating thyroid-stimulating hormon... OMIM:620185
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai... OMIM:620166
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... ORPHA:1666
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot... ORPHA:298
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Chilblains, Petechiae, Splenomeg... OMIM:225750
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Cyanosis, Intestinal malrotation, Submucous cleft hard palate, T... ORPHA:3426
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate ORPHA:1832
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,... OMIM:619418
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmi... ORPHA:464453
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Edema, Unsteady gait, Gait ataxia, Normochromic anemia, Anasarca, Hypoalbuminemia, Dysphagia, Ple... OMIM:254900
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... ORPHA:100085
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio... ORPHA:329178
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Premature graying of hair, High palate, Fasting hypoglycemia, Hypothyro... ORPHA:769
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, ... OMIM:265380
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... OMIM:267450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary... ORPHA:436271
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Elevated cir... OMIM:612852
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate... ORPHA:563
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Fat malabsorpti... ORPHA:71
Atypical Werner Syndrome
Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Abnormality of the pulmonary ... ORPHA:79474
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Tachypnea, Ventricular tachycardia, Atrioventricular block, Cough... ORPHA:137675
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Brain-Lung-Thyroid Syndrome
Respiratory distress, Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract ORPHA:324416
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Coloboma, Lethargy, Failure to thrive OMIM:274270
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... ORPHA:369
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Protein-l... OMIM:619991
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Intestinal perforation, Conjunctivitis, Cough, Neutr... ORPHA:537
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Peritonitis, Erythema,... ORPHA:343
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Lipoatrophy, Oligohydramnios ORPHA:261304
Craniofaciofrontodigital Syndrome
Respiratory distress, Edema, Polyhydramnios, Large for gestational age, Gastrointestinal dysmotil... ORPHA:363705
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp... OMIM:616433
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Gastritis, Ataxia, Atrial fibrillation, Cong... ORPHA:31826
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Generalized edema, Edema, Malabsorption, Pulmonary embolism... OMIM:226300
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Abnormal optic chiasm morphology, Enlarged pituitary... ORPHA:300373
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Waddling gait, Elevated circulating creatine kinase concentration, Dyspnea,... ORPHA:86812
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Isolated Right Ventricular Hypoplasia
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Edema, Pedal edema OMIM:152800
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... OMIM:167800
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Hepatomegaly, Cyanosis, Apnea, Hypoglycemia, Optic neuropathy, Ataxia, Failure... OMIM:252010
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Abnormal retinal morphology, Dysphagia ORPHA:89844
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Increased nuchal translu... ORPHA:453499
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hyp... ORPHA:79259
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep... OMIM:619377
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, ... OMIM:619580
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... ORPHA:100050
Glycogen Storage Disease Iv
Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly... OMIM:232500
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, High palate, Camptodactyly, Arthrogryposis multiplex congenita, Pleu... OMIM:617822
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab... ORPHA:210136
Pontocerebellar Hypoplasia, Type 11
Recurrent respiratory infections, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Colob... OMIM:617695
Srd5A3-Cdg
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... ORPHA:324737
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Iris coloboma, Coloboma, Peters anomaly OMIM:610023
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypopl... ORPHA:77297
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint... OMIM:614407
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Folinic Acid-Responsive Seizures
Respiratory distress, Broad-based gait, Apnea, Ataxia, Optic atrophy, Difficulty walking ORPHA:79097
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Polyhydramnios, Edema ORPHA:1423
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Choreoathetosis, Cardiomyopathy, Res... ORPHA:445038
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Cryptorchidism, Oligohydramnios, Pancreatic aplasia ORPHA:261265
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Retinal detachment, Hypoglycemia, Small for gestational age, Edema, Polyhyd... OMIM:607143
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis, Cerebral ... OMIM:201450
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... ORPHA:541423
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Inability to walk, Flexion ... OMIM:619383
Nipah Virus Disease
Respiratory distress, Anorexia, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis ORPHA:99825
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Restrictive ventilatory defect, Abnor... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Cardiac arrest, Pu... ORPHA:139402
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Decreased liver fu... OMIM:614922
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Resp... OMIM:618329
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity,... ORPHA:254346
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Dehydra... OMIM:251110
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Neo... OMIM:231680
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Lymphoid Interstitial Pneumonia
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona... ORPHA:79128
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia, Dysphagia ORPHA:240103
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Decreased response to growth hormon... ORPHA:811
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrio... OMIM:115197
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Edema, Polyhydramnio... ORPHA:79330
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... OMIM:208540
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Elevated circulating creatine kinase concentration, Congestive heart failure, Card... ORPHA:52430
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, In... ORPHA:747
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Inguinal hernia, Edema of the dorsum of feet, Edema of the do... ORPHA:544503
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Optic nerve hypoplasia, Pancreatic aplasia OMIM:609069
Sea-Blue Histiocytosis
Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastinal lymphadenopathy, Blepharitis, Sea-blue ... ORPHA:158029
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Tubulointerstitial nephritis, Iron deficiency anemia, Gl... ORPHA:358
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia, Pulmona... ORPHA:2140
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Neona... ORPHA:141127
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Cutis marmorata, Myocardial infarction, Hyperhomocystinemia, High palate, Hyperm... OMIM:236200
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... ORPHA:29073
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly, Respiratory distress, Cardiac arrest, High palate, Lethar... OMIM:604377
Tetrasomy 5P
Respiratory distress, Pericallosal lipoma, Recurrent respiratory infections, Cyanosis, Congestive... ORPHA:3309
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... OMIM:614300
Prader-Willi Syndrome
Hypoventilation, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased respo... OMIM:176270
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Retinopathy, Reduced pancreatic beta cells, Dehydration ORPHA:99885
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U... ORPHA:48435
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Splenomega... ORPHA:3386
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Hypoalbuminemia, Hernia, T... ORPHA:505248
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Hemophagocytic Lymphohistiocytosis, Familial, 2
Edema, Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Ataxia, ... OMIM:603553