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Gene: Gatm MGI:1914342

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Gene Summary

Name:
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Synonyms:
1810003P21Rik

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
prolonged QRS complex duration Gatmtm1b(KOMP)Wtsi HOM Early adult 1.58×10-05
male infertility Gatmtm1b(KOMP)Wtsi HOM Early adult 0.00
decreased heart rate Gatmtm1b(KOMP)Wtsi HOM Early adult 3.34×10-07
prolonged ST segment Gatmtm1b(KOMP)Wtsi HOM Early adult 4.35×10-06
prolonged QT interval Gatmtm1b(KOMP)Wtsi HOM Early adult 9.78×10-09
decreased respiratory quotient Gatmtm1b(KOMP)Wtsi HOM   Early adult 6.10×10-06
abnormal QT variability Gatmtm1b(KOMP)Wtsi HOM Early adult 5.46×10-09
increased heart rate variability Gatmtm1b(KOMP)Wtsi HOM Early adult 4.91×10-24
decreased food intake Gatmtm1b(KOMP)Wtsi HOM   Early adult 7.87×10-07
thrombocytopenia Gatmtm1b(KOMP)Wtsi HOM Early adult 2.14×10-08
decreased grip strength Gatmtm1b(KOMP)Wtsi HOM Early adult 1.39×10-23
decreased circulating alkaline phosphatase level Gatmtm1b(KOMP)Wtsi HOM Early adult 5.07×10-32
increased circulating potassium level Gatmtm1b(KOMP)Wtsi HOM Early adult 5.58×10-06
decreased red blood cell distribution width Gatmtm1b(KOMP)Wtsi HOM Early adult 8.25×10-09
increased circulating amylase level Gatmtm1b(KOMP)Wtsi HOM Early adult 2.09×10-07
abnormal sinus arrhythmia Gatmtm1b(KOMP)Wtsi HOM Early adult 1.46×10-25
cardiovascular system phenotype Gatmtm1b(KOMP)Wtsi HOM Early adult 3.26×10-21
decreased locomotor activity Gatmtm1b(KOMP)Wtsi HOM   Early adult 4.44×10-08
increased circulating aspartate transaminase level Gatmtm1b(KOMP)Wtsi HOM   Early adult 4.93×10-06
prolonged RR interval Gatmtm1b(KOMP)Wtsi HOM Early adult 3.52×10-14
decreased circulating cholesterol level Gatmtm1b(KOMP)Wtsi HOM Early adult 5.25×10-05
female infertility Gatmtm1b(KOMP)Wtsi HOM Early adult 0.00
decreased prepulse inhibition Gatmtm1b(KOMP)Wtsi HOM   Early adult 6.38×10-06
increased mean corpuscular hemoglobin Gatmtm1b(KOMP)Wtsi HOM Early adult 1.71×10-07
decreased exploration in new environment Gatmtm1b(KOMP)Wtsi HOM   Early adult 2.45×10-06

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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.

Electrocardiogram (ECG)

Waveform Image

22 Images

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Human diseases caused by Gatm mutations

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

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

The table below shows human diseases associated to Gatm by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... ORPHA:3337
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Vomitin... OMIM:260005
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Cognitive im... ORPHA:94125
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Abnormal intestine morpholo... OMIM:606528
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase, Dysphagia OMIM:620265
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Elevated circulating creatine kinase concentration, Fatigable weakness of skeletal muscles, Inabi... ORPHA:206559
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Cln3 Disease
Ataxia, Aggressive behavior, Vacuolated lymphocytes, Mental deterioration, Depression, Bradykines... ORPHA:228346
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage, Elevated circulating creatine kinase concentration OMIM:619040
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Immunodeficiency 104
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Otitis m... OMIM:608971
Autoimmune Hypoparathyroidism
Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, H... ORPHA:36913
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop... ORPHA:398124
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Elevated circulating creatine kinase concentration OMIM:615351
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Steppage gait, Elevated circulating creatine kinase concentration, Wad... OMIM:300695
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... OMIM:617638
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... ORPHA:60041
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri... OMIM:212138
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Muscle Filaminopathy
Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b... ORPHA:171445
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Neonatal hypotonia, Small for gestational age, Ketotic hypoglycemia, Maturity-onset... ORPHA:324575
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyp... ORPHA:466650
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:181350
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Ataxia, Elevated circulating creatine kinase concentration, Unsteady gait, Dysm... OMIM:616479
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, 3-Methylglutacon... ORPHA:67046
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... ORPHA:251274
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia OMIM:619048
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Premature ovarian insufficiency, Depression, Cardiomyopathy, Dementia, Hypogonadism, Bradycardia,... OMIM:609286
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody... OMIM:614602
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Dilated ... ORPHA:66634
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... ORPHA:71529
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Confusion, Increased cir... ORPHA:71212
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated... OMIM:310300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cardiac arrest, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysph... OMIM:616878
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased s... ORPHA:54057
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94090
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Hypokalemia, Increased circ... OMIM:263800
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... OMIM:613327
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Cyanosis, Cong... ORPHA:31826
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ataxia, Elevated circulating creatine kinase concentration, ... ORPHA:480864
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Restless... ORPHA:466677
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia, Lethargy ORPHA:95717
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Malaria
Elevated circulating C-reactive protein concentration, Anemia, Gait imbalance, Cognitive impairme... ORPHA:673
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Congestive heart failure, Increased circulating ferritin concentra... OMIM:602390
Immunodeficiency 48
Failure to thrive, Diarrhea, Eczematoid dermatitis, Pneumonia OMIM:269840
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an... OMIM:618775
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Hypoglycemia, Vaginal neoplasm, Reduced C-peptide ... ORPHA:2126
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... OMIM:610883
Trimethylaminuria
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Brunner Syndrome
Diarrhea OMIM:300615
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... ORPHA:682
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Aminoaciduria, Galactosuria, Hypergalactosemia, ... OMIM:230350
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... ORPHA:49827
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Delirium, H... ORPHA:94093
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hypotonia, Hyperprolinemia, Generali... OMIM:239500
Congenital Generalized Lipodystrophy
Adipose tissue loss, Low anterior hairline, Hepatic steatosis, Hepatomegaly, Insulin resistance, ... ORPHA:528
Mehmo Syndrome
Axial hypotonia, Small for gestational age, Decreased response to growth hormone stimulation test... OMIM:300148
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... ORPHA:276580
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio... ORPHA:79237
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... OMIM:614962
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Broad-based gait, Aggressive behavior, Elevated circulating creatine conce... OMIM:300352
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Nathalie Syndrome
Abnormal EKG OMIM:255990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Dysph... ORPHA:3299
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... ORPHA:276575
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Rett Syndrome
Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Abnormal T-wave, Motor deterioration, Prolong... OMIM:312750
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Necrotizing Enterocolitis
Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Lethargy, Thrombocytopenia ORPHA:391673
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Bradycardia, Atrioventricular block, Truncal ataxia OMIM:614407
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Stimmler Syndrome
Aminoaciduria, Abnormal dental enamel morphology, Ataxia, Type II diabetes mellitus ORPHA:3199
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Short neck, Low anterior hairline, Primary amenorrhea, ... OMIM:616033
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... ORPHA:2070
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopathy, Cognitive i... ORPHA:1177
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... ORPHA:369
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Hyperammonemia OMIM:614702
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Bradycardia, Lethargy ORPHA:95716
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Loss of ambulation, Elevated circulating creatine kinase concentration... ORPHA:254361
Gitelman Syndrome
Prolonged QT interval, Polydipsia, Salt craving, Raynaud phenomenon, Hypomagnesemia, Hypermagnese... ORPHA:358
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... ORPHA:79102
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv... OMIM:601457
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Enteric Anendocrinosis
Diarrhea, Vomiting, Malabsorption ORPHA:83620
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Confusion, Depression, Irritab... ORPHA:79444
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:608594
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Renal cyst, Dysmetria, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemi... OMIM:212065
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit... ORPHA:3085
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Hypokalemia, Syncope, Palpit... OMIM:170390
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Hypotonia, Cystinuria, Hypogonadism, Hypocalcemia, Long eyelashes,... ORPHA:163693
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia OMIM:616176
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F... OMIM:616050
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... OMIM:269700
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hyp... ORPHA:94089
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... ORPHA:171876
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabe... OMIM:613404
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Neutro... ORPHA:79312
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia OMIM:618969
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Confusion, Depression, Choreoa... ORPHA:79443
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Neonatal hypotonia, Proteinuria, Large for gestation... ORPHA:263455
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Galactosemia I
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... OMIM:230400
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Hypotonia, Abnormal circulating cal... ORPHA:417
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... ORPHA:449285
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Premature ovarian insufficiency, Aminoaciduria ORPHA:2278
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Sengers Syndrome
Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Mental deterioration, Pulm... OMIM:212350
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive ORPHA:33355
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... OMIM:261550
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension ORPHA:70587
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Glutamine Deficiency, Congenital
Hypoglutaminemia, Bradycardia, Hyperammonemia OMIM:610015
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ... ORPHA:276556
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Fatigable weakness of distal limb muscles, Heart block, Abnormal left ventricular function, Cardi... ORPHA:98912
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Neutrophil inclusi... OMIM:155100
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Hyperkalemia, ... OMIM:610600
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Confusion, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556037
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Aminoaciduria, Vomiting, Failure to thrive OMIM:612075
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Weight loss, Aminoaciduria ORPHA:79238
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypotonia-Cystinuria Syndrome
Axial hypotonia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation... OMIM:606407
Refractory Anemia
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... ORPHA:98826
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... OMIM:310200
Sepsis In Premature Infants
Tachycardia, Cyanosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia, L... ORPHA:90051
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... OMIM:301074
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ataxia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Cardiomyo... OMIM:249270
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556030
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Babesiosis
Hemolytic anemia, Confusion, Anorexia, Myocardial infarction, Congestive heart failure, Splenomeg... ORPHA:108
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Gray Platelet Syndrome
Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Thrombo... ORPHA:721
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... ORPHA:2088
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Immunodeficiency 19
Recurrent otitis media, Failure to thrive, Chronic diarrhea OMIM:615617
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Bilatera... OMIM:618156
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Leu... ORPHA:27
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:203400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Premature graying of hair, Increased intra... ORPHA:280365
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Hypertension, Irritability, Internal hemorrhage, Anemia ORPHA:69077
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Prematu... ORPHA:423
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Bradycardia, Attention deficit hyperactivity disorder, Macroorchidism, Hypercholester... ORPHA:90674
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... ORPHA:213
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... ORPHA:99826
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypotonia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Thrombocytopenia OMIM:615750
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hypotonia, Hyperglycinuria, Hyperg... OMIM:605899
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Inability to walk, Right bundle... ORPHA:268
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E... ORPHA:90044
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E... ORPHA:2394
Liddle Syndrome
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia ORPHA:526
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:177735
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Lujo Hemorrhagic Fever
Shock, Confusion, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosi... ORPHA:319213
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia, Bradycardia, Cerebral hemorrhage OMIM:617397
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Hyposp... ORPHA:79324
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol level, P... ORPHA:199299
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Hypotonia, Generalized hy... OMIM:266510
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Preeclampsia
Elevated circulating creatinine concentration, Elevated diastolic blood pressure, Hypertension, E... ORPHA:275555
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Amoebiasis Due To Entamoeba Histolytica