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Gene: Dennd5b MGI:2444273

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Gene Summary

Name:
DENN domain containing 5B
Synonyms:
9330160C06Rik,  D030011O10Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart rate Dennd5bem1(IMPC)Tcp HOM Early adult 1.44×10-06
increased lean body mass Dennd5bem1(IMPC)Tcp HOM Early adult 3.05×10-05
increased lymphocyte cell number Dennd5bem1(IMPC)Tcp HOM Early adult 5.03×10-08
abnormal spleen morphology Dennd5bem1(IMPC)Tcp HOM Early adult 0.00
increased freezing behavior Dennd5bem1(IMPC)Tcp HOM Early adult 7.61×10-06
abnormal seminal vesicle morphology Dennd5bem1(IMPC)Tcp HOM Early adult 0.00
decreased circulating cholesterol level Dennd5bem1(IMPC)Tcp HOM Early adult 1.35×10-16
prolonged PR interval Dennd5bem1(IMPC)Tcp HOM   Early adult 5.49×10-05
decreased circulating glucose level Dennd5bem1(IMPC)Tcp HOM   Early adult 2.03×10-05
prolonged QT interval Dennd5bem1(IMPC)Tcp HOM Early adult 5.55×10-09
decreased total body fat amount Dennd5bem1(IMPC)Tcp HOM   Early adult 3.53×10-05
abnormal sternum morphology Dennd5bem1(IMPC)Tcp HOM Early adult 0.00
decreased circulating triglyceride level Dennd5bem1(IMPC)Tcp HOM Early adult 7.12×10-07
decreased bone mineral content Dennd5bem1(IMPC)Tcp HOM Early adult 1.01×10-08
decreased bone mineral density Dennd5bem1(IMPC)Tcp HOM Early adult 3.39×10-05
decreased exploration in new environment Dennd5bem1(IMPC)Tcp HOM Early adult 7.72×10-06
decreased circulating HDL cholesterol level Dennd5bem1(IMPC)Tcp HOM Early adult 1.38×10-19
prolonged RR interval Dennd5bem1(IMPC)Tcp HOM Early adult 3.29×10-09
increased grip strength Dennd5bem1(IMPC)Tcp HOM Early adult 1.11×10-06
increased leukocyte cell number Dennd5bem1(IMPC)Tcp HOM Early adult 1.62×10-07
increased circulating alkaline phosphatase level Dennd5bem1(IMPC)Tcp HOM Early adult 3.96×10-23
improved glucose tolerance Dennd5bem1(IMPC)Tcp HOM Early adult 1.25×10-06
decreased circulating total protein level Dennd5bem1(IMPC)Tcp HOM   Early adult 1.48×10-05
abnormal bone structure Dennd5bem1(IMPC)Tcp HOM Early adult 5.21×10-07
decreased red blood cell distribution width Dennd5bem1(IMPC)Tcp HOM Early adult 8.76×10-05

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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.

Gross Pathology and Tissue Collection

Images

14 Images

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Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

108 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Dennd5b 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 Dennd5b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Villous atrop... OMIM:615863
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Failure to thrive, Diarrhea, Hypocholesterolemia,... OMIM:246700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, H... ORPHA:75234
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hyperlipid... OMIM:232700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom... OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:267700
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Splenomegaly, Hypertriglycer... OMIM:613327
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo... ORPHA:26793
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Memory impairment, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic ... ORPHA:90065
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:607765
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Delirium, Hepatomegaly, Restlessness, Mania, Hypopro... ORPHA:247585
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to t... OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... OMIM:603553
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa... OMIM:613217
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Autoimmune hypoparathyroidism, Hyp... ORPHA:36913
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Sandal gap, Elbow flexion contracture, Knee fle... OMIM:619040
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Atherosclerosis, Cholestasis, Villous atrophy, A... ORPHA:95427
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Increased LDL cholesterol concentrati... OMIM:278000
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Decreased response to gro... ORPHA:94089
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ... ORPHA:358
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy... OMIM:610947
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Obesity, Hype... OMIM:615703
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Prominent floating ribs, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyce... OMIM:604091
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Decreased circulating carnit... ORPHA:71212
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
3-Methylglutaconic Aciduria, Type V
Hypospadias, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic mi... OMIM:610198
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Hepatic steato... OMIM:212138
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Hepatomeg... OMIM:226300
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Hypocalcemia, Pulmonary arterial hypertension, Cutaneous sy... OMIM:601005
Diarrhea 9
Diarrhea, Villous atrophy, Failure to thrive OMIM:618168
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Abnormality of the... ORPHA:398124
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Hepat... OMIM:619048
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Prolonged PR ... ORPHA:99106
Cirrhotic Cardiomyopathy
Addictive alcohol use, Abnormal circulating B-type natriuretic peptide concentration, Congestive ... ORPHA:57777
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Elevated circulating hepatic transaminase concentration, H... ORPHA:71
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Ir... OMIM:618235
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Failure to thrive, Cardiom... OMIM:615895
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Premature coronary artery atherosclerosis, Hypocholesterolemia, Decreased ci... OMIM:620058
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive, Increased serum bile acid concentration OMIM:607748
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytopenia, Cerebral hemor... ORPHA:99828
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia ORPHA:1116
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... OMIM:241600
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Type IV atherosclerotic lesion, Hy... OMIM:144300
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Bilateral cryptorchidis... ORPHA:66634
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis, Failure to thrive, Increased circulating chylomicron c... OMIM:615947
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hepatitis, Increased circulating ferritin concentration, Spl... OMIM:300635
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Mildly elevated creatine kinase, Bradycardia OMIM:620265
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Weight loss, Hypochromic microcytic anemia, Anorexi... ORPHA:2494
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Abnormal circulating protein... ORPHA:103910
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal small intestine morphology, Hypocalcemia ORPHA:100025
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Fai... ORPHA:79319
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Joint contracture, Elevated circulating creatine kinase concentration OMIM:615351
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Lymphopenia, H... ORPHA:90362
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Johanson-Blizzard Syndrome
Hypospadias, Failure to thrive, Abnormal vagina morphology, Exocrine pancreatic insufficiency, Ab... ORPHA:2315
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Umbilical hernia, Delayed proximal fe... ORPHA:95717
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Glucose intolerance, Joint contracture of the 5th fing... OMIM:614407
Andersen-Tawil Syndrome
Small hand, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extra... ORPHA:37553
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Diarrhea, Vomiting, Failure to thr... OMIM:602579
Hypobetalipoproteinemia, Familial, 1
Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hypertriglyce... OMIM:615558
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, E... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Aggressive behavior, Jaundice, Clinodactyly of the 5th finger, Flexion contractur... OMIM:608093
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Abnormality of the... ORPHA:2070
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Elbow flexion contracture, Reduced left v... OMIM:181350
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon... ORPHA:90647
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia... ORPHA:90041
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Short foot, Short metacarpal, Depre... OMIM:170390
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia OMIM:617182
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue, Hypertriglyceridemia ORPHA:71529
Jejunal Atresia
Jejunal atresia OMIM:243600
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Jaundice, ... ORPHA:167
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Fle... OMIM:618815
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ... ORPHA:103907
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Atherosclerosis, Hypertriglyceridemia OMIM:603813
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Steinert Myotonic Dystrophy
Mental deterioration, Oral-pharyngeal dysphagia, Hyperinsulinemia, Emotional lability, Obsessive-... ORPHA:273
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... OMIM:601847
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Pseudohypoparathyroidism, Prolonged QT inte... ORPHA:94090
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... OMIM:266510
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hypertriglyceride... OMIM:613101
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Red... OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Vaginal atresia, Hepatosplenomegaly, Hypo... ORPHA:1655
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Decreas... ORPHA:79320
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Inguinal hernia, Pulmonary lymphangiecta... OMIM:235255
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, E... ORPHA:79443
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... ORPHA:92050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Glycogen Storage Disease Iv
Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosple... OMIM:232500
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Protracted diarrhea OMIM:251850
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Abnormal epiphysis morphology, Failure to thrive, Increa... ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Br... OMIM:614702
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... ORPHA:276556
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Foam cells with lamellar inclusion bodies, Hypertriglyce... OMIM:607616
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hypoglycemia, Abnormal EKG, Hyperammonemia, Ele... ORPHA:480864
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr... OMIM:611705
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Small Bowel Atresia
Vomiting, Failure to thrive, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia ORPHA:1201
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss of gluteal subcuta... ORPHA:280356
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Hypoglycemia, Oral-pharyngeal dysphagia, Torsad... OMIM:616878
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hypertrophic card... ORPHA:369
Trimethylaminuria
Depression, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Adrenal hyperplasia, Hypokalemia, Prolonged QT interval, Intracranial hemo... ORPHA:251274
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Umbilical hernia, Goiter, Abnormal ci... ORPHA:95716
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Precocious atherosclerosis, Hypertriglyceridemia OMIM:145750
Squalene Synthase Deficiency
Slender long bone, Bilateral cryptorchidism, Elbow flexion contracture, Hypocholesterolemia, Fail... OMIM:618156
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Hypogonadism, Arrhythmia, Dysphagia, Bradycardia, Dementia, Diabetes ... OMIM:609286
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea ORPHA:3217
Congenital Contractural Arachnodactyly
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... ORPHA:115
Temple Syndrome
Bifid uvula, Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, High palate, O... OMIM:616222
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... OMIM:616299
Proprotein Convertase 1/3 Deficiency
Diarrhea, Decreased circulating cortisol level, Obesity, Villous atrophy OMIM:600955
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Aortic atherosclerotic lesion, Cholestasis, Increased LDL cho... ORPHA:209902
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinem... OMIM:211600
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Diarrhea, Failure to thrive, Bloody diarrhea, Villous a... OMIM:614602
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Bradycardia, Hypon... ORPHA:391673
Lipase Deficiency, Combined
Lipodystrophy, Pancreatitis, Hypertriglyceridemia OMIM:246650
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia OMIM:616276
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Interface ... OMIM:243150
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminas... OMIM:214950
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Villous atrophy, Splenomegaly, Lipodystr... OMIM:608776
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Portal fibrosis, Elevated circulating he... ORPHA:264580
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Chorioretinal scar OMIM:277175
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... OMIM:615631
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Goiter, Large f... ORPHA:226313
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Abnormality of the gastroi... ORPHA:79327
Cerebral Creatine Deficiency Syndrome 1
Failure to thrive, Joint hypermobility, Aggressive behavior, Attention deficit hyperactivity diso... OMIM:300352
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Ventricular escape rhy... ORPHA:98855
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liv... OMIM:608104
Muscular Dystrophy, Becker Type
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:300376
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery ORPHA:1203
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreonin... ORPHA:247598
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Hypomagne... ORPHA:79102
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Depression, Hypocholesterolemia, Abnormal erythrocyte morphology, Acant... ORPHA:96180
Potocki-Lupski Syndrome
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, High ... OMIM:610883
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Polydipsia, Failure to thrive, Hypomagnesemia, Palpitations, Hypo... OMIM:263800
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit... OMIM:175500
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Intestinal atresia, Duodenal atresia ORPHA:3405
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Jaundice, Shock, Eleva... ORPHA:99826
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Glutamine Deficiency, Congenital
Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture OMIM:610015
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Coronary artery atheroscl... OMIM:618620
Diarrhea 12, With Microvillus Atrophy
Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory granules, Micro... OMIM:619445
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... OMIM:618775
Simpson-Golabi-Behmel Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Congenital diaphragmatic he... ORPHA:373
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98863
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Xanthelasma, Increased ... ORPHA:412
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Tongue thrusting, Bradycardia, Micropenis, Elevated circulating ... OMIM:220120
Lysosomal Acid Lipase Deficiency
Diarrhea, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Fatal liver failure in infancy, Cachexi... ORPHA:275761
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Secretory diarrhea, Failure to thrive, Increased circulating ferritin concentrat... OMIM:616050
Alg12-Cdg
Hypoalbuminemia, Hypospadias, Abnormal adipose tissue morphology, Sandal gap, Failure to thrive, ... ORPHA:79324
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Depression, Dementia, Sideroblastic anemia, Pappenheimer bodies, Erythroid h... OMIM:301310
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Congenital Generalized Lipodystrophy
Failure to thrive, Hepatic steatosis, Adipose tissue loss, Cirrhosis, Hypercholesterolemia, Lipod... ORPHA:528
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Arrhythmia, Delirium, Tachycardia, Hyperkalemia, Dysphagia, Hypocalcemia, Brad... ORPHA:94093
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir... OMIM:235200
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Dementia, Reduced left ventricular ejection fra... OMIM:613697
Dpagt1-Cdg
Head-banging, Clinodactyly, Failure to thrive, Stereotypical body rocking, Arachnodactyly, Hepato... ORPHA:86309
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Rett Syndrome
Abnormal T-wave, Bruxism, Stereotypical hand wringing, Cachexia, Motor deterioration, Short foot,... OMIM:312750
Cocaine Intoxication
Mania, Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Elevated... ORPHA:90068
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... ORPHA:2457
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... ORPHA:439232
Sepsis In Premature Infants
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Decreased body weight, Hepatomegaly, Jaundi... ORPHA:90051
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen... OMIM:308240
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia, Congestive heart failure OMIM:260450
Tetanus
Stiff neck, Elevated circulating creatine kinase concentration, Dysphagia, Bradycardia, Tachycard... ORPHA:3299
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Failure to thrive, Bloody diarrhea OMIM:614328
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Emotional lability, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Anorexia, Ep... ORPHA:99827
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Confusion, Hypocalcemia, Euphoria, Prolonged QT int... ORPHA:31826
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Increased body weight, Constipation, Hypercholesterolemia, Hypertri... OMIM:182290
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Lujo Hemorrhagic Fever
Mental deterioration, Hypotension, Shock, Lymphopenia, Leukopenia, Stiff neck, Leukocytosis, Conf... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Failure to thrive, Cardiomyopathy, Hypocholesterol... OMIM:212065
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Atrioventricular block, Carpal osteolysis, Osteolysis invol... ORPHA:371428
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Congenital Myopathy 24
Abnormal circulating creatine kinase concentration, First degree atrioventricular block, Cardiomy... OMIM:617336
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Umbilical hernia, Delayed proximal fe... ORPHA:90673
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Reduced subcutaneous adipose tissue, Loss... OMIM:604367
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Hip contracture, Achilles tendon contracture, Bradycardia, Osteoporosis,... OMIM:620351
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Sp... ORPHA:79240
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hyp... ORPHA:363400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Hypotriglyceridemia, Failure to thrive, Congestive... ORPHA:14
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Cystathioninemia, Failure to thrive, Dementia, Confusion, Bradycardia, Hypomethionin... OMIM:277400
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Hypoketot... OMIM:610768
Sheehan Syndrome
Secondary growth hormone deficiency, Hypoglycemia, Breast hypoplasia, Obesity, Palpitations, Panh... ORPHA:91355
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Third degree atrioventricular block, Aplasia/hypoplasia involving b... ORPHA:40366
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femo... OMIM:209950
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:99413
Mosaic Monosomy X
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:99228
Monosomy X
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:99226
Turner Syndrome
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, Splayed t... ORPHA:881
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Hepatomegaly... ORPHA:289157
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting,... ORPHA:90363
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased circulating iron concentration, Increased mean corpuscular volume, Increased to... ORPHA:98870
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Atherosclerosis, Hepatic steatosis, Splenomegaly, Coronary artery atherosclerosis, Li... ORPHA:2348
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Atherosclerosis, Increased facial adipose tissue, Incre... OMIM:151660
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... OMIM:619377
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Conf... ORPHA:466650
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis, Lipoatrophy, Hepatic steatosis ORPHA:79087
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Attention deficit hyperactivity disorder, Pulmonary arterial hypert... OMIM:620029
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Holt-Oram Syndrome
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Splenomegaly, Wei... ORPHA:29073
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Hypomagnesemia, Hy... OMIM:618183
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia, Hepatomegaly, Micropenis, Hydrocele testis OMIM:618810
Cog8-Cdg
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Failure to t... ORPHA:95428
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Duodenal Atresia
Duodenal atresia OMIM:223400
Pparg-Related Familial Partial Lipodystrophy
Atherosclerosis, Loss of facial adipose tissue, Hepatic steatosis, Hyperuricemia, Coronary artery... ORPHA:79083
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Increased intraabdominal fat, Hepatic steatosis, Elevat... ORPHA:435660
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Immunodeficiency 97 With Autoinflammation
Diarrhea, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Foam ce... OMIM:619802
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Tangier Disease
Atherosclerosis, Hypertriglyceridemia, Splenomegaly, Coronary artery atherosclerosis, Elevated ci... OMIM:205400
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Prominent calcaneus, Bradycardia, Neonatal hypoglycemia, Congenital foot contract... ORPHA:565624
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Diarrhea, Increased circulating cortisol... ORPHA:913
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Hyperlipidemia, Failure to thrive, Elevated circulatin... ORPHA:2089
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increas... ORPHA:37748
Fanconi-Bickel Syndrome
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... ORPHA:2088
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, C... OMIM:620603
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lipodystrophy, Elevat... OMIM:615381
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Hepatomegaly, Camptodactyly of finger, Duodenal stenosis ORPHA:1759
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis, Increased HDL cholesterol concentration, Hypertriglyce... ORPHA:140905
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Smith-Lemli-Opitz Syndrome
Small scrotum, Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Cryptorchidism, Ci... OMIM:270400
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Pathologic fracture, Anorexia, Hepatosplenomegaly, Panc... ORPHA:98850
Pseudo-Torch Syndrome 2
Thin ribs, Bradycardia, Thrombocytopenia, Cerebral hemorrhage, Hepatomegaly OMIM:617397
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... OMIM:238600
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Parathyroid Carcinoma
Chondrocalcinosis, Polydipsia, Lipoma, Shortened QT interval, Parathyroid carcinoma, Pancreatic a... ORPHA:143
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Fanconi Anemia, Complementation Group W
Duodenal atresia, Polysplenia OMIM:617784
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Hypocalcemia, Splenomegaly, Hepatomegaly, ... OMIM:618440
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Pancreatitis, Loss... ORPHA:435651
Propionic Acidemia
Cardiomyopathy, Hypoglycemia, Hyperammonemia, Arrhythmia, Hepatomegaly ORPHA:35
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level OMIM:615238
Smith-Magenis Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Constipation, Hypercholesterolemi... ORPHA:819
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... ORPHA:30391
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Small for gestational age, Secretory diarrhea, Cholestasis, ... OMIM:619573
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Brain abscess, Rectocele, Failure to thrive... ORPHA:2929
Fabry Disease
Mitral regurgitation, Arrhythmia, Cognitive impairment, Anorexia, Depression, Hypertrophic cardio... ORPHA:324
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia, Polysplenia OMIM:619608
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Atherosclerosis, Increased facial adipose tissue, Incre... ORPHA:280365
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Small for gestational age... ORPHA:1199
Sickle Cell Anemia
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi... ORPHA:232
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Palpitations, Elevated circulating creatine kinase concentr... OMIM:616812
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Polydipsia, Lipoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal... ORPHA:99880
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Obesity, Irritability, Aggressive behav... ORPHA:3077
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Omphalocele OMIM:190440
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly ORPHA:79085
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Elevated circulating creatine kinase conc... OMIM:232300
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercho... OMIM:615812
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Hypoparathyroidism, Ar... OMIM:530000
Lcat Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis, Hypertriglyceridemia, Decreased circu... ORPHA:650
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Inguinal hernia, Pulmonary arterial hypertension, Bradycardia, Hypospadias OMIM:619272
17Q24.2 Microdeletion Syndrome
Broad thumb, Upper limb undergrowth, Failure to thrive in infancy, Emotional lability, Aggressive... ORPHA:529962
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... ORPHA:79237
Colonic Atresia
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ... ORPHA:1198
Mhc Class Ii Deficiency 1
Failure to thrive, Protracted diarrhea, Villous atrophy, Biliary tract abnormality, Cholangitis, ... OMIM:209920
Mirage Syndrome
Hypospadias, Hyperkalemia, Hypoglycemia, Microphallus, Radial club hand, Lymphopenia, Overlapping... OMIM:617053
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Restlessness, Abnormal fear-induced behavior, Confusion, A... ORPHA:100924
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Hypogonadism, Obsessive-compulsive trait, First degree atrioventr... OMIM:160900
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Diarrhea, Vomiting, Failure to thrive, Arthrogryposis... OMIM:601110
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Mania, Depression, Memory impairment, Increased circulating cortisol level, Pituitary adenoma, Hy... ORPHA:189427
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Anisocytosis, Hepatomegaly, Camptodactyly, Flexion contracture, Rocker bottom ... OMIM:604273
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lysinuric Protein Intolerance
Diarrhea, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis... ORPHA:470
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:618278
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Fryns Syndrome
Abnormal aortic arch morphology, Gastroesophageal reflux, Intestinal malrotation, Abnormal aortic... ORPHA:2059
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Glossopharyngeal Neuralgia
Depression, Oral-pharyngeal dysphagia, Syncope, Weight loss, Bradycardia, Jaw claudication ORPHA:221098
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Propionic Acidemia
Failure to thrive, Hypoglycemia, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, H... OMIM:606054
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Shortened QT interval, Pituitary prolactin cell adenoma, Pi... ORPHA:652
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... ORPHA:563
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, Jaundice, First degree at... ORPHA:509
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... ORPHA:86839
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... OMIM:155310
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia ORPHA:3004
Lipodystrophy, Familial Partial, Type 6