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Gene: Prox1 MGI:97772

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prospero homeobox 1
Synonyms:
A230003G05Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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, Edema of the dorsum of hands, Angioedema OMIM:619363
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiol... ORPHA:50251
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Leukopenia, Leukocytosis, Pleural effusion, ... ORPHA:36238
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin... ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, Reduced... ORPHA:280356
Lymphatic Malformation 6
Facial edema, Generalized edema, Cellulitis, Gastroesophageal reflux, Chylothorax, Intestinal lym... OMIM:616843
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Respiratory distress, Ascites, Tricuspid regur... ORPHA:2414
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Exce... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Exce... ORPHA:276575
Perching Syndrome
Respiratory distress, Cyanosis, Rod-cone dystrophy, Joint contracture, Camptodactyly, High palate... OMIM:617055
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hemop... OMIM:619644
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... ORPHA:79084
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Arrhythmia, Weight loss, Erythema nod... ORPHA:797
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Respiratory distress, Cervical lymphadenopathy, Abno... ORPHA:3392
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Ataxia, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic ste... ORPHA:363400
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess... ORPHA:276556
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Emphys... ORPHA:538
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Hypoxemia, Pleural effusion, Splenomegaly, Hepatomegaly, ... OMIM:612387
Poems Syndrome
Increased circulating prolactin concentration, Weight loss, Hepatomegaly, Polycythemia, Ascites, ... ORPHA:2905
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ... ORPHA:79126
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Cardiomyopathy, Respiratory distress, Anorexia, Splenomegaly, H... ORPHA:79312
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopath... ORPHA:26792
Congenital Enterovirus Infection
Cholestasis, Neutropenia, Pleural effusion, Anemia, Hydrops fetalis, Hypoalbuminemia, Hepatic fai... ORPHA:292
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, He... OMIM:612526
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, He... ORPHA:454836
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Optic atrophy, Chylothorax, Erysipelas, Abnormal optic nerve morphology, Lymphedema, ... ORPHA:2526
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Failure to thrive, Hypoglycemia, Ascites, Hypertrophic cardiomyopathy, Oligohydram... OMIM:614702
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Eosino... ORPHA:1163
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Generalized abnormality of skin, Hypereosinophilia, Leukocytosis,... ORPHA:2902
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Ascites, Ch... OMIM:615710
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Emphysema, Episcleritis, Splenomegaly, Skin rash, Pleural effusion, Inflamma... ORPHA:36412
Hennekam Syndrome
Chylothorax, Erysipelas, Lymphedema, Ascites, Lymphopenia, Camptodactyly of finger, Splenomegaly,... ORPHA:2136
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Chylothorax, Subdural hemorrhage, Respiratory distress, Joint cont... OMIM:620278
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum mor... ORPHA:545
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Increased ... OMIM:615703
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Generalized edema, Peritoneal ... ORPHA:90362
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Recurrent otitis media, Hypogonadism, Obesity, Retinal degen... OMIM:615993
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thri... OMIM:620233
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur... ORPHA:67
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen... OMIM:619386
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest... ORPHA:77260
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog... OMIM:212140
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Ascites, Hyperlipidemia, Pleural effusion, Anemia, Hypertension, Edema OMIM:603278
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Waldenström Macroglobulinemia
Normocytic anemia, Periorbital edema, Gastrointestinal hemorrhage, Vasculitis, Epistaxis, Congest... ORPHA:33226
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Hepatomegaly, Elevated circulating C-r... ORPHA:85414
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ... ORPHA:1041
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Right ventricular failure, Interlobular... ORPHA:199241
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest... ORPHA:90363
Fryns Syndrome
Joint contracture of the hand, Meckel diverticulum, Chylothorax, Polysplenia, Intestinal malrotat... OMIM:229850
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp... OMIM:151660
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Q Fever
Hepatosplenomegaly, Weight loss, Anorexia, Hepatomegaly, Purpura, Endocarditis, Vasculitis, Granu... ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Lipodystrophy, Familial Partial, Type 7
Facial wrinkling, Cutis marmorata, Reduced subcutaneous adipose tissue, Loss of subcutaneous adip... OMIM:606721
Zygomycosis
Cellulitis, Ileitis, Pustule, Retinal detachment, Acute infectious pneumonia, Neutropenia, Perior... ORPHA:73263
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Cutis ma... ORPHA:3260
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Failu... ORPHA:79319
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Acquired Partial Lipodystrophy
Insulin resistance, Progeroid facial appearance, Hepatic steatosis, Lymphocytosis, Lipoatrophy ORPHA:79087
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Cellulitis, Atypical scarring of skin, Absence... ORPHA:90186
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaundice,... ORPHA:167
Nocardiosis
Cellulitis, Lymphadenitis, Scleritis, Weight loss, Anorexia, Endocarditis, Cutaneous abscess, Ost... ORPHA:31204
Fusariosis
Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Granuloma, Osteomyelitis, Abnorm... ORPHA:228119
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Lymphedema-Distichiasis Syndrome
Cellulitis, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:153400
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Weight loss, Lymphadenopathy, Dyspnea, Peri... ORPHA:411703
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion, Abnormal peritoneum morphology ORPHA:48686
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr... OMIM:617049
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Respiratory distress, Weight loss, Dyspnea, Cleft palate ORPHA:141152
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Vascular skin abnormality, Lymphedema, Congestive heart failure, Cerebral... ORPHA:137667
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Oligohydramnios, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Gait disturbance, Mildly elevated creatine kinase, Elevated circulating hepati... OMIM:618400
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Retinal detachment, Hypertriglyceridemia,... ORPHA:436182
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Protein-losing enteropathy, Failure to thrive... OMIM:602579
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Congenital contracture, Chylothorax, Thymus hyperplasia OMIM:619036
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Pontocerebellar Hypoplasia, Type 13
Volvulus, Decreased liver function, Recurrent respiratory infections, Inability to walk, Failure ... OMIM:618606
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin... OMIM:619573
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Brain abscess, Gastrointestinal infarctions, Pulmonary hemorrh... ORPHA:2038
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate aminotr... OMIM:619048
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly... ORPHA:457077
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate... ORPHA:367
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopeni... ORPHA:93552
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Elevated circulating creati... ORPHA:542323
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Hepatosplenomegaly, Hype... OMIM:278000
Kikuchi-Fujimoto Disease
Erythema, Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Ataxia, Anorexia, He... ORPHA:50918
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infe... OMIM:618183
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail... ORPHA:905
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Optic atrophy, Ankle flexion contracture, Elevated circulating hepatic trans... OMIM:608799
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microc... ORPHA:846
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Acute... ORPHA:71212
Zollinger-Ellison Syndrome
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intole... ORPHA:369873
Stuve-Wiedemann Syndrome 2
Eczematoid dermatitis, Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary ... OMIM:619751
Radio-Renal Syndrome
High, narrow palate, Chylothorax, Respiratory distress, Pleural effusion, Dyspnea ORPHA:3015
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Acquired Generalized Lipodystrophy
Insulin resistance, Progeroid facial appearance, Insulin-resistant diabetes mellitus, Abnormal ci... ORPHA:79086
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Tachypnea, Arr... ORPHA:26793
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Porphyria Cutanea Tarda
Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen... ORPHA:101330
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Iridocyclitis, Weight loss, Anorexia, Hepatome... OMIM:181000
Malaria
Respiratory distress, Gait imbalance, Hyperbilirubinemia, Retinopathy, Elevated circulating C-rea... ORPHA:673
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... OMIM:617872
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia, Obesity ORPHA:329249
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Juvenile myelomonocytic leukemia, Failure to thrive, Lymphede... OMIM:613563
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, R... OMIM:264470
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Exertional dyspnea, Acute i... ORPHA:723
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Ventricular fibrillation, ST segment elevation, Neonatal hypoglycemia, Ascites, ... OMIM:261740
High Altitude Pulmonary Edema
Leukocytosis, Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Anorexia, Dyspnea, Tachycardia, Hy... ORPHA:330012
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Mahvash Disease
Palpitations, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasi... OMIM:619290
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Pleuritis, Sinusitis, Arthralg... ORPHA:449280
Necrotizing Enterocolitis
Hypotension, Ascites, Hyperglycemia, Shock, Apnea, Leukocytosis, Abnormal glucose homeostasis, Br... ORPHA:391673
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormality of retinal pigmentatio... ORPHA:3085
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Addictive alcohol... ORPHA:178320
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Apnea, Hepatic stea... OMIM:261680
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Cerebral edema, Restlessness, Hypoprot... ORPHA:247585
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Cryptogenic Organizing Pneumonia
Respiratory distress, Anorexia, Leukocytosis, Cyanosis, Pneumothorax, Weight loss, Elevated circu... ORPHA:1302
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Hepatic steatosis, Reduced s... ORPHA:280365
Leptospirosis
Pulmonary hemorrhage, Macular cotton wool spot, Arrhythmia, Anorexia, Hepatomegaly, Jaundice, Ple... ORPHA:509
Behçet Disease
Mitral regurgitation, Weight loss, Anorexia, Ataxia, Endocarditis, Aortic regurgitation, Vasculit... ORPHA:117
Systemic Capillary Leak Syndrome
Hypotension, Leukocytosis, Pleural effusion, Pulmonary edema, Arrhythmia, Weight loss, Pancreatit... ORPHA:188
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Bruising susceptibility, Hepatospleno... ORPHA:464329
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Glycogen Storage Disease Ii
Sinus tachycardia, Difficulty walking, Pleural effusion, Splenomegaly, Elevated circulating creat... OMIM:232300
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Cellulitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermati... OMIM:306400
Sepsis In Premature Infants
Decreased body weight, Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concent... ORPHA:90051
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Multiple Endocrine Neoplasia Type 4
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Joint contracture of the hand, Pericardial lymphangi... OMIM:235510
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Attention deficit hyperactivity disor... ORPHA:210548
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Failure to thrive, Camptodactyly of finger, Respiratory distress, Elevat... OMIM:614399
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Increased ci... ORPHA:139507
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Inc... OMIM:607616
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema OMIM:153300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa... OMIM:201475
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Vasculi... ORPHA:228123
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,... OMIM:613561
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomega... ORPHA:2348
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbilical hernia, Hyperi... OMIM:608594
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Hepatomegal... ORPHA:2849
Hsd10 Disease, Infantile Type
Optic atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cyanosis, Retinal degen... ORPHA:391428
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Episodic respiratory dist... ORPHA:1199
Microphthalmia/Coloboma 4
Microcornea, Coloboma OMIM:251505
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis, Lethargy, Central apnea, Ataxia, Choreoathetosis ORPHA:71277
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Decreased body weight, Pulmonary edema, Glomerulonephritis, Tubulointerstitial... ORPHA:340
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Cutis marmorata, Pleural eff... ORPHA:69735
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Abnormal optic nerve morphology, Intestinal fistula, Gast... ORPHA:679
Bacterial Toxic-Shock Syndrome
Cellulitis, Abscess, Tachypnea, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock... ORPHA:36234
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hypertri... OMIM:603552
Eosinophilic Fasciitis
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We... ORPHA:3165
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Hypoglycemia, Cardiomyopathy, Respiratory distress, Leukopenia, Hyperglycinemi... OMIM:251000
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo... OMIM:269700
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Umbilical hernia OMIM:254120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Low-output conges... ORPHA:91130
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress, Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Thromb... ORPHA:289916
Erdheim-Chester Disease
Polydipsia, Pulmonary fibrosis, Congestive heart failure, Osteomyelitis, Xanthelasma, Pleural eff... ORPHA:35687
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pleural eff... OMIM:602248
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Cryptococcosis
Pneumonia, Abnormal optic nerve morphology, Respiratory distress, Osteomyelitis, Nodular pattern ... ORPHA:1546
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Rod-cone dystrophy, Ataxia, Hepatomegaly, Villous atrophy, Dysmetria, Nonimmun... OMIM:212065
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Tip-toe gait, Respiratory distress, Inability to walk, Achilles tendon ... ORPHA:2596
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Edema, Anas... ORPHA:567546
Noonan Syndrome 8
Eczematoid dermatitis, Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age,... OMIM:615355
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Card... ORPHA:70587
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Ascites, Cerebral hemorrhage, Pleural ef... OMIM:617397
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... ORPHA:79237
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive i... OMIM:618805
Ovarian Fibrothecoma
Ascites, Pleural effusion, Peritonitis, Increased serum testosterone level, Abnormal circulating ... ORPHA:314478
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chori... OMIM:619111
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Lymphopenia, Recurrent viral upper respiratory t... OMIM:619773
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Ascites, Hypothyroi... OMIM:619487
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Cone/con... OMIM:203800
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased connective tissue, Increased serum pyruvate ORPHA:238329
Mandibuloacral Dysplasia With Type B Lipodystrophy
Progeroid facial appearance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia... OMIM:608612
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... OMIM:610921
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels... ORPHA:568051
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Ataxia, Anorex... ORPHA:20
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Arthro... OMIM:254210
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Pleural empyema, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia... ORPHA:544482
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Polyhydramnios, Flexion contracture, Hydr... OMIM:616897
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Abnormal cir... OMIM:620375
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Respiratory distress, Abnormality of the liver, In... ORPHA:254864
Slc35A1-Cdg
Pneumonia, Cellulitis, Giant platelets, Respiratory distress, Subcutaneous hemorrhage, Pulmonary ... ORPHA:238459
Familial Mediterranean Fever
Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Crohn's disease, Orchitis, Hepatomegaly... OMIM:249100
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... ORPHA:159
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, ... OMIM:256810
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Congestive heart failure, I... ORPHA:70472
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels OMIM:153200
Familial Chylomicronemia Syndrome
Pulmonary embolism, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer... OMIM:147060
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Bruising suscep... ORPHA:189427
Ddost-Cdg
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:300536
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Elevated circulating hepatic transaminase concentration, Congenital contracture, R... OMIM:615042
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Retinopathy, Cardiomyopathy OMIM:615119
Noonan Syndrome 1
High, narrow palate, Chylothorax, Juvenile myelomonocytic leukemia, Bruising susceptibility, Lymp... OMIM:163950
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Intraalveolar phospholipid accumulation, Spo... OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:618234
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Increased serum ... ORPHA:64739
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Isolated Atp Synthase Deficiency
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypogonadism, Hypertrophic cardiomyo... ORPHA:254913
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Congestive heart failure, Abnormal QRS complex, Hea... ORPHA:860
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Erythema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physio... ORPHA:100057
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Broad-based gait, Elevated circulating hepatic transaminase concentrat... ORPHA:2959
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Polyhydramnios, Decreased body weight OMIM:300580
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hypoparathyroidism, Hepat... ORPHA:699
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Nephritis, Recurrent pneumonia, Optic atrophy, Hypoalbuminemia, R... OMIM:617303
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Exocrine pancreatic insufficiency, Hyperechogenic panc... ORPHA:456312
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Esophageal varix,... ORPHA:264580
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Ring Chromosome 22 Syndrome
Inappropriate behavior, Lymphedema, Gait ataxia, Protruding tongue, Pleural effusion, Edema ORPHA:1446
Chronic Graft Versus Host Disease
Erythema, Xerostomia, Poor wound healing, Pancytopenia, Weight loss, Anorexia, Bronchiolitis obli... ORPHA:99921
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Shoulder flexion contracture, Respiratory distress, Ascites, Elbow flexion ... OMIM:620369
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Neutropenia, Ataxia, Jaundice, Stomatitis, Macular coloboma, Methylmalonic aci... ORPHA:79282
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Cyanosis, ... OMIM:263000
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Oligohydramnios, Hip ... ORPHA:1143
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec... ORPHA:226313
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Elevated bronch... OMIM:610978
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Cutis marmorata, Intestinal obstruction, Weight loss, Tubulointerstit... ORPHA:183
Cardiogenic Shock
Mitral regurgitation, Arrhythmia, Elevated jugular venous pressure, Orthopnea, Hepatomegaly, ST s... ORPHA:97292
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Oligohydramnios, Flexion con... OMIM:616733
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Cerebral ischemia, Hyperammonemia, Acute hyperammonemia,... ORPHA:927
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxem... ORPHA:70589
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Ortho... ORPHA:2032
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating... ORPHA:369840
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Congestive heart ... OMIM:617253
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Apnea, Hyposerinemia, Cyanotic episode OMIM:610992
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Respiratory distress, Eleva... OMIM:616974
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Gorham-Stout Disease
Osteomyelitis, Lymphangioma, Pleural effusion, Edema ORPHA:73
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... ORPHA:2470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo... OMIM:600649
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis... ORPHA:60032
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Tachypnea, Elevated jugular venous pressure, Hepatome... ORPHA:1329
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic ... OMIM:610198
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:615996
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Recurrent pneumonia, Congestive heart failure, Respiratory distress, Leukopenia, Hepatic ... OMIM:616271
White Sponge Nevus 2
Edema OMIM:615785
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine ... OMIM:251110
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... ORPHA:284227
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr... ORPHA:99106
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Respiratory distress, Hypogonadism, Polyhydramnios, Obsessive-com... OMIM:160900
Dpm1-Cdg
High, narrow palate, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase c... ORPHA:79322
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Lujo Hemorrhagic Fever
Lymphopenia, Periorbital edema, Elevated circulating C-reactive protein concentration, Cerebral e... ORPHA:319213
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Failure to thrive, R... OMIM:220110
Gaucher Disease, Perinatal Lethal
Hepatic failure, Arthrogryposis multiplex congenita, Respiratory distress, Ascites, Hepatosplenom... OMIM:608013
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Elevated circulating hepatic transaminase concentration, Atrioventricular block, Hyp... OMIM:212138
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Respiratory distress, Anorexia, Hyperammonemia, Keratocon... ORPHA:79242
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Anaplastic Thyroid Carcinoma
Dyspnea, Goiter, Respiratory distress, Tracheoesophageal fistula, Weight loss, Dysphagia, Lymphad... ORPHA:142
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Hepatic failure, Hypotension, Right ventricular failure, In... ORPHA:97287
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Hellp Syndrome
Generalized edema, Hypotension, Elevated circulating hepatic transaminase concentration, Poor wou... ORPHA:244242
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio... ORPHA:1666
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Elevated circulating ca... ORPHA:264675
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Patent Ductus Venosus
Persistent patent ductus venosus, Decreased liver function, Congenital portosystemic venous shunt... OMIM:601466
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:248370
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failure to thrive, Ch... OMIM:615486
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Rod-cone dyst... ORPHA:14
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Inability to walk OMIM:617977
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Hypogonadotropi... ORPHA:298
Aicardi-Goutieres Syndrome 7
Pancytopenia, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Recurrent lower respirato... OMIM:615846
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy OMIM:616341
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Failure to thrive, Intestinal malrotation, Heart murmur, Hypoca... ORPHA:3426
Atelis Syndrome 2
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia, Exertional dyspnea, Athetosis, Small for gestational age ORPHA:621
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... ORPHA:769
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Congenital Myasthenic Syndrome
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Tip-toe gait, Recurrent respiratory ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Tip-toe gait, Recurrent respiratory ... ORPHA:98914
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c... OMIM:614582
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... ORPHA:60025
Farber Disease
Hepatic fibrosis, Hepatic failure, Macular degeneration, Elevated circulating hepatic transaminas... ORPHA:333
Prader-Willi Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Cutaneous photosensitivity, Precocious p... OMIM:176270
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatic steatosis, Cirrhosis, Hepatomegaly, High palate, Neonatal hypoglycemia, Failure to thrive... OMIM:619418
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Respiratory distress, Hypomethioninemia, Lethargy, Gait disturbance, Megalobla... OMIM:250940
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Failure to thrive in infancy, Splenomegaly, Abscess, Skin ra... OMIM:612852
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Polypha... OMIM:614962
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Edema, Anasarca, Gait ataxia, Pleural effusion, Thrombocytopenia, Unsteady gait,... OMIM:254900
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Elevated circulating hepatic transaminase concentration, Contractures of the large... ORPHA:329178
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Pulmonary arterial hyperte... ORPHA:70588
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia, Neuromuscular dysphagia, Falls ORPHA:240085
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi... ORPHA:348
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... OMIM:265120
Ovarian Fibroma
Ascites, Peritonitis, Pleural effusion, Mesenteric cyst ORPHA:314473
Srd5A3-Cdg
Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Optic disc hypo... ORPHA:324737
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf... ORPHA:275761
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, In... OMIM:225750
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Primary adrenal insufficiency, Acrocyanosis, Myositi... ORPHA:589
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Edema, Pedal edema OMIM:152800
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Respiratory distr... OMIM:615512
Glycogen Storage Disease Iv
Hepatic failure, Edema, Cardiomyopathy, Failure to thrive, Ascites, Abnormal circulating creatine... OMIM:232500
Microphthalmia, Isolated 4
Absent testis, Coloboma OMIM:613094
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory distress, Difficulty walking, Failure to thrive in infancy, Dysp... ORPHA:254875
Atypical Werner Syndrome
Aortic valve stenosis, Subcutaneous calcification, Insulin-resistant diabetes mellitus, Premature... ORPHA:79474
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress, Inability to walk, Polyhydramn... ORPHA:596
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Cyanosis, Methemoglobinemia, Arrhythmia, Syncope, Dyspnea, Ta... ORPHA:464453
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Neonatal death, Pulmonary lymphangiectasia, Anal atresia, D... OMIM:265380
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec... OMIM:617093
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Orthopnea, Pedal edema, Systolic heart murmur, Right ventricula... ORPHA:99103
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ... ORPHA:1677
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Hyperventi... ORPHA:91359
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, ... ORPHA:2070
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Lipoatrophy, Failure to thrive ORPHA:261304
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
X-Linked Acrogigantism
Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio... ORPHA:300373
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Hernia, Persistent fetal circulation, Arrhythmia, Lo... ORPHA:363705
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Tachypnea, Cirrhosis, Unconjugated h... OMIM:613658
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Lethargy, Coloboma, Hyperactivity OMIM:274270
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Apnea, Cyanosis, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Diabetes mellitus, Hypoxemia ORPHA:140896
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to... ORPHA:137675
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Hyperinsulinemia, Attenuation of retinal blood vessels, Type II diab... ORPHA:791
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Hypergl... OMIM:614299
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Recurrent respiratory infections, Difficulty walking, ... OMIM:617695
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Median cleft palate ORPHA:1832
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Ethylene Glycol Poisoning
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Hypocalcemia, Cyan... ORPHA:31826
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory distress, Elevated circulating creatine kinase concentratio... OMIM:620166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Gastroesophageal reflux, Failure to thrive, Bruxism, Furrowed tongue, Increased nuch... ORPHA:453499
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenop... ORPHA:97285
17Q12 Microdeletion Syndrome
Oligohydramnios, Cryptorchidism, Elevated circulating hepatic transaminase concentration, Pancrea... ORPHA:261265
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis OMIM:610023
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Failure to thrive, H... ORPHA:436271
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Hypovolemic shock, Recurrent tonsillitis, Abnormal circulating... ORPHA:171876
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Cholestasis, Tric... ORPHA:746
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Recurrent respiratory infections, Respiratory distress, Inability to walk, Hypertr... OMIM:619383
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Dysphagia, Abnormal retinal morphology ORPHA:89844
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Failure to thrive, Apnea, Cyanosis, Tachypnea, Pneumothorax... ORPHA:2257
Alkuraya-Kucinskas Syndrome
Pleural effusion, Camptodactyly, Pericardial effusion, High palate, Arthrogryposis multiplex cong... OMIM:617822
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pulmonary ede... OMIM:619991
Rett Syndrome
Failure to thrive, Abnormal pattern of respiration, Difficulty walking, Inability to walk, Increa... ORPHA:778
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... OMIM:619466
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Polyhydramnios, Edema ORPHA:1423
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Glucose intolerance, Joint contracture of the 5th fing... OMIM:614407
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Hypoglycemi... OMIM:607143
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Apnea, Gait ataxia, Recurrent hand flapping, Protruding tongue, Cyanosis, Aggr... OMIM:619580
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Dyspnea, Congestive heart failure, Respiratory distress, Ascites, Hypertr... OMIM:115197
19P13.12 Microdeletion Syndrome
Precocious puberty, Self-injurious behavior, Aortic regurgitation, Obesity, Hyperlipidemia, Hepat... ORPHA:254346
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,... ORPHA:79259
Hereditary Angioedema Type 1
Facial edema, Hypotension, Dermatographic urticaria, Respiratory distress, Tongue edema, Laryngea... ORPHA:100050
Mogs-Cdg
Optic atrophy, Generalized edema, Respiratory distress, Hepatosplenomegaly, Apnea, Polyhydramnios... ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death OMIM:615918
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Retinopathy, Dehydration ORPHA:99885
Folinic Acid-Responsive Seizures
Optic atrophy, Broad-based gait, Respiratory distress, Difficulty walking, Apnea, Ataxia ORPHA:79097
Brain-Lung-Thyroid Syndrome
Abnormal eating behavior, Ataxia, Hypoparathyroidism, Choreoathetosis, Falls, Hyperactivity, Recu... ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Failure to thrive, Hypoglycemia, Concentric hypertrophic cardiomyopathy, Hypertr... OMIM:252010
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne... OMIM:231680
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress, Inguinal hernia, Edema of the dorsum of hands, Edema of ... ORPHA:544503
Tetrasomy 5P
Failure to thrive, Recurrent respiratory infections, Congestive heart failure, Respiratory distre... ORPHA:3309
Shwachman-Diamond Syndrome
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Pancreatic ... ORPHA:811
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia, Pulmona... ORPHA:2140
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Orthopnea, Left bundle branch block, Tach... ORPHA:563
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... ORPHA:100085
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Hyperammonemia, Hyperglutamatemia, Aggressive behavior, ... OMIM:237310
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, P... ORPHA:537
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Optic nerve hypoplasia OMIM:609069
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti... OMIM:620011
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Bud... OMIM:226300
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Respiratory distress, Difficulty walking, Elevated circulating creatine kinase co... ORPHA:86812
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Retinopathy, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Med... ORPHA:158029
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Villous atrophy, Increased int... OMIM:619377
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h... ORPHA:139402
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol... ORPHA:247598
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Difficulty walking, Chro... OMIM:610717
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Ventricular fibrill... ORPHA:358
Duodenal Atresia
Polyhydramnios, Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Abruzzo-Erickson Syndrome
Microcornea, Chorioretinal coloboma, Cryptorchidism, Coloboma, Iris coloboma, Cleft palate ORPHA:921
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Congenital Fibrinogen Deficiency
Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Splenic rupture, Internal h... ORPHA:335
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Cutis marmorata, Hepatic steatosis, Inguinal hernia, Pancr... OMIM:236200
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia, Dysphagia ORPHA:240103
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Ataxia, Hepatomegaly, Jaundice, Hypoproteinem... OMIM:603553
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Respiratory distress, Gait ataxia, Cachexia, Weight loss OMIM:612075
Nipah Virus Disease
Hypotension, Respiratory distress, Infectious encephalitis, Recurrent pharyngitis, Anorexia ORPHA:99825
Neuralgic Amyotrophy
Bifid uvula, Acrocyanosis, Cleft palate ORPHA:2901
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Xanthelasma, Go... ORPHA:412
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve... OMIM:137920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspne... OMIM:610910
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Elevated circulating hepatic transaminase concentration, Cardio... ORPHA:445038
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, C... ORPHA:293987
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Retinal vasculitis, Abno... ORPHA:48435
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Ankle flexion contracture, Failure to thrive in infancy, Hyperglycinemia, Knee fle... ORPHA:284417
Multiple Myeloma
Elevated circulating creatinine concentration, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Megarectum, Central hypothyroidism, Failure to th... ORPHA:508
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema OMIM:211890
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Elevated circulating hepatic transaminase concentration, Elevated circulating glut... ORPHA:66634
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious ...