Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myosin, heavy polypeptide 11, smooth muscle
Synonyms:
SM1,  SM2,  smMHC

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Myh11 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 predicted to be associated to Myh11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Hyperkalemia, Growth delay, In... OMIM:203400
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556037
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu... ORPHA:556030
Megabladder, Congenital
Multiple glomerular cysts, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Mungan Syndrome
Tricuspid regurgitation, Gastroparesis, Intestinal pseudo-obstruction, Barrett esophagus, Hypoper... OMIM:611376
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... OMIM:610600
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Short stature, Polyuria, Nephrogenic diabetes insipidus, Feeding difficulties ... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting... OMIM:304800
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Adrenomyodystrophy
Megacystis, Myopathy, Abnormality of the urinary system, Abnormal intestine morphology, Failure t... ORPHA:977
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Decreased urinary potassium, Renal sa... ORPHA:427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... OMIM:302045
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... OMIM:619365
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Hyperactive renin-angiotensin system,... OMIM:177735
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ... ORPHA:79159
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611615
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Abnormality of ... ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Abdominal distention, Patent ductus arteriosus, Peritonitis, Megacystis, P... OMIM:619351
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 2C
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... OMIM:618189
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Short stature, Dilated cardiomyopathy, Gastroesophageal reflux, Decreased body weight, Intrauteri... OMIM:618097
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... OMIM:235400
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ... OMIM:601198
Gitelman Syndrome
Prolonged QT interval, Polyuria, Abdominal pain, Renal magnesium wasting, Hypomagnesemia, Ventric... OMIM:263800
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Feeding difficulties, Arrhythmia, Intrauterine ... OMIM:616198
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Myocardial infarction, Decreased urinary potassium, Renal s... ORPHA:95409
Infection-Related Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions... ORPHA:544482
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Apparent Mineralocorticoid Excess
Renal insufficiency, Failure to thrive, Short stature, Abnormal urine sodium concentration, Nephr... ORPHA:320
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... ORPHA:171876
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Visceral Myopathy 1
Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... OMIM:155310
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Rectal prola... ORPHA:90038
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Myopathy, Myofibrillar, 1
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... OMIM:601419
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... ORPHA:90791
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditis, Congesti... ORPHA:3386
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Short stature, Small for gestational age, Chronic k... ORPHA:97362
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Hypospadias, Dilated cardiomyopathy, Micropenis, Bradycardia, Hypertrophic card... OMIM:618815
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurre... OMIM:620300
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Oliguria, Weight loss, ... ORPHA:188
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... OMIM:610198
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Urolithiasis, Nephrolithi... OMIM:614723
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Short stature, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hyperaldosteronism, Hypocalc... OMIM:612780
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... OMIM:601678
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Malonyl-Coa Decarboxylase Deficiency
Short stature, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated c... OMIM:248360
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Hyperinsulinemia, Feeding difficulties, Decreased circula... ORPHA:276575
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:181350
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney... ORPHA:1018
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Short stature, Poor suck, Decreased body weight OMIM:300580
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... ORPHA:85138
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Atrial septal defect, Hypospadias, ... ORPHA:209905
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature ORPHA:2515
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia OMIM:615750
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Urinary retention, Urinary incontinence, Foot dorsiflexor weakness OMIM:616586
Bartter Syndrome Type 4
Renal salt wasting, Nephrocalcinosis, Increased circulating renin level, Vomiting, Hyponatremia, ... ORPHA:89938
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... ORPHA:94080
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon OMIM:619431
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Feeding difficulties... ORPHA:276580
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Short stature, ... OMIM:255160
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Feeding difficulties, Decreased circulating free fatty ac... ORPHA:276556
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Short stature, Anorexia, Paroxysmal... ORPHA:49827
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... OMIM:615981
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ab... ORPHA:90051
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Death in infancy, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine ki... OMIM:619424
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:154
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating creatine k... OMIM:608099
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... OMIM:617053
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Renal insufficiency, Telangiectasia of the skin, Malabsorption, Congestive h... ORPHA:220393
Cleft Larynx, Posterior
Aspiration OMIM:215800
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Nausea and vomiti... ORPHA:727
Cyclic Vomiting Syndrome
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Growth delay, Cardiomyopathy, Vomiting, P... OMIM:500007
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hypera... OMIM:618120
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Functional abnormality of... ORPHA:79093
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604286
Scleromyxedema
Abnormality of the gastrointestinal tract, Transient ischemic attack, Abnormality of the kidney, ... ORPHA:167635
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Myopathy, Distal, 1
Left atrial enlargement, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati... OMIM:160500
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Elevated circulat... ORPHA:206546
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... ORPHA:324
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... OMIM:300539
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Congestive heart failure, Increased circulating ferritin concentra... OMIM:602390
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... OMIM:241200
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Diarrhea, Hypovolemia, ... ORPHA:31824
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:300718
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... ORPHA:71212
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... OMIM:103900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:612937
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Poor appetite... ORPHA:352447
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... ORPHA:168558
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Paralytic ileus, Urinary retention, Elevated urinary delta-aminole... OMIM:176000
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function, Elevated circulating creatine kinase concentra... OMIM:616827
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Failure to thrive in infancy, Ankle flexion contracture, Elbow flexion contractu... ORPHA:85285
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Feeding difficulties, Cardiomyopathy, Organic... OMIM:255100
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Apparent Mineralocorticoid Excess
Small for gestational age, Short stature, Growth delay, Hypertension, Hypokalemia, Failure to thr... OMIM:218030
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Dilated cardio... OMIM:231530
Congenital Myopathy 2A, Typical, Autosomal Dominant
Feeding difficulties in infancy, Dilated cardiomyopathy, Dysphagia, Slender build, Mildly elevate... OMIM:161800
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Severe short stature ORPHA:3239
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor, Anorexia ORPHA:79283
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Miscarriage, Achlorhydria, Abdominal p... ORPHA:173
Familial Visceral Myopathy
Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal ... ORPHA:2604
Liddle Syndrome 1
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... OMIM:177200
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, ... ORPHA:324575
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate... ORPHA:206559
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Peptic ulcer, Ov... ORPHA:90041
Dpm3-Cdg
Elevated creatine kinase after exercise, Dilated cardiomyopathy ORPHA:263494
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... OMIM:613677
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Poor appetite, Nausea, Heart block, Diarrhea, Elevated circulating creatinine concen... ORPHA:542323
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor, Dysphagia, Hypertrophic cardiomyopathy, Failure to thrive OMIM:613561
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Acute Intermittent Porphyria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Dysuria, Urinary incont... ORPHA:79276
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Iatrogenic Botulism
Xerostomia, Urinary retention ORPHA:254509
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Short stature, Minimal chang... OMIM:618348
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:34515
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting OMIM:620126
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Failure to thrive in infancy, Chronic diarrhea, Dilated cardiomyopathy... OMIM:618805
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Feeding difficulties,... OMIM:619167
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Achalasia-Microcephaly Syndrome
Growth delay, Achalasia ORPHA:929
Rheumatic Fever
Nausea and vomiting, Pericarditis, Abnormal heart valve morphology, Epistaxis, Anorexia, Abdomina... ORPHA:3099
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Nephro... ORPHA:85447
Inhalational Botulism
Xerostomia, Urinary retention ORPHA:254504
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Patent ductus arteriosus, Hypertension, Atrial septal de... OMIM:613834
Yellow Fever
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... ORPHA:99829
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Growth delay, Hypokalemia,... OMIM:214700
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Overweight, Dilated cardiomyopathy, R... ORPHA:401923
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Abdominal pain, Malabsorption, Chronic kidney disease, Ch... ORPHA:85445
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperalaninemia, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria, Hyp... OMIM:619003
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Pallor, Positive regitine blocking test, Nausea, Extraadrenal pheochrom... ORPHA:276621
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Short stature, Secundum atrial septal defect, Feeding difficulties, Pe... OMIM:600987
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Amyloidosis, Finnish Type
Renal insufficiency, Cutis laxa, Nephrotic syndrome, Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyopathy, Ventric... OMIM:600649
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Neuromuscular dysphagia, Mildly elevated creatine kinase, Feeding difficu... ORPHA:171442
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, F... ORPHA:319213
Tetrasomy 18P
Achalasia, Syncope ORPHA:3307
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Botulism
Xerostomia, Urinary retention ORPHA:1267
Isolated Atp Synthase Deficiency
Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic acidu... ORPHA:254913
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Wound Botulism
Urinary retention ORPHA:178475
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Triple A Syndrome
Achalasia, Anterior hypopituitarism, Short stature, Adrenal insufficiency ORPHA:869
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Sudden car... ORPHA:99901
Autosomal Recessive Spastic Paraplegia Type 9B
Pollakisuria, Urinary retention, Skeletal muscle atrophy ORPHA:447760
Lassa Fever
Shock, Nausea and vomiting, Miscarriage, Abdominal pain, Diarrhea, Oliguria, Dysphagia ORPHA:99824
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph... OMIM:143880
Foodborne Botulism
Xerostomia, Urinary retention ORPHA:228371
Cardiomyopathy, Dilated, 2E
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... OMIM:619492
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Short stature, Anorexia, Nephrocalcinosis, Hypokalemia, Pallor, Distal renal tubular... OMIM:611590
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Death ... OMIM:611126
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Dilated cardi... OMIM:615084
Immunoneurologic Disorder, X-Linked
Neonatal death, Functional abnormality of the bladder, Small for gestational age OMIM:300076
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Elevated circ... ORPHA:767
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Ren... ORPHA:90795
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... ORPHA:231632
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Carnosinuria OMIM:309930
Leprechaunism
Postnatal growth retardation, Abdominal distention, Rectal prolapse, Long penis, Hyperinsulinemia... ORPHA:508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Short stature, Decreased response to growth hormone stimulation test ORPHA:436174
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Solitary Fibrous Tumor
Urinary retention, Weight loss ORPHA:2126
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Dk1-Cdg
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... ORPHA:91131
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Adrenomyeloneuropathy
Urinary incontinence, Urinary urgency, Urinary retention, Leg muscle stiffness, Urinary bladder s... ORPHA:139399
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Short stature OMIM:221350
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis, Achalasia, Abnormality of the adrenal glands, Dysphagia ORPHA:289483
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Achalasia, Urinary incontinence OMIM:609033
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left vent... OMIM:614096
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction, Short stature OMIM:252011
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... OMIM:605676
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Short stature, Elevated circulating creatine kinase concentration, Feeding difficulties in infanc... ORPHA:324525
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Pallor, Positive regitine blocking test, Nausea, Extraadrenal pheochrom... ORPHA:29072
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Dilated cardiomyopathy, Feeding difficulties, Dysphagia OMIM:255310
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Achalasia, Short stature, Dysphagia ORPHA:79107
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Decreased urinary potassium, Rhabdomyolysis, Obesity, Weight lo... ORPHA:79102
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Myopathy, Centronuclear, 5
Mitral regurgitation, Dilated cardiomyopathy, Abnormal circulating creatine kinase concentration OMIM:615959
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Increased circulating free fatty acid level, Diarrhea, Dilated cardiomyopathy, ... OMIM:610768
Dystonia-Deafness Syndrome 1
Achalasia, Small for gestational age, Pseudobulbar paralysis, Dysphagia OMIM:607371
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Renal agenesis, Hypogonadotropic hypogonadism, Short stature, Congestive he... ORPHA:2326
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:609053
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... OMIM:203800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Pallor, ... ORPHA:276608
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi... ORPHA:550
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Abdominal pain, Congestive heart failure, Dil... OMIM:615895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding d... OMIM:608836
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Urinary incontinence, Sinus bradycardia, Feeding difficulties, Chro... OMIM:619482
Fanconi Anemia, Complementation Group O
Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Small thenar eminence, Neonatal death... OMIM:613390
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentratio... ORPHA:263455
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Methylglutaric ac... OMIM:246450
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Renal agenesis, Absenc... OMIM:604292
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, N... ORPHA:31826
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Celiac disease, Abnormal intestine morphology, Delayed puberty, Type I diabetes me... OMIM:615952
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Congestive heart failure, Pallor, Increased total bilirubin ORPHA:90037
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hypera... OMIM:264350
Andersen-Tawil Syndrome
Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t... ORPHA:37553
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated ci... OMIM:614921
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Renal atrophy, Congenital contracture, High palate, Hy... OMIM:618578
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Patent ductus arteriosus, Ure... OMIM:618845
Propionic Acidemia
Hyperammonemia, Cardiomyopathy, Organic aciduria, Constipation, Arrhythmia ORPHA:35
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Short stature, Adrenocorticotropin... OMIM:231550
Cat-Eye Syndrome
Anal atresia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Dilated cardiomyopathy, Elevated circulating creatine kinase ... OMIM:607155
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Urinary retention, Failure to thrive in infancy ORPHA:79124
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Nau... ORPHA:466650
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Erythema, Pyoderma... OMIM:608068
Peripheral Cone Dystrophy
Pallor OMIM:609021
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Benign Paroxysmal Torticollis Of Infancy
Vomiting, Pallor ORPHA:71518
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... OMIM:208000
Acute Monoblastic/Monocytic Leukemia
Weight loss, Oliguria, Anorexia, Central hypothyroidism ORPHA:514
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Bohring-Opitz Syndrome
Facial hypotonia, Bilateral wrist flexion contracture, Cleft palate, Congenital contracture, Lowe... ORPHA:97297
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Esophageal varix, Abnormal... ORPHA:367
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Dilated cardiomyopathy, Vomiting, Hyperglycinemia, Hypertrophic cardiomyopathy OMIM:614299
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis ORPHA:1054
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal a... ORPHA:90324
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Gm1-Gangliosidosis, Type I
Death in infancy, Severe short stature, Abnormal heart valve morphology, Congestive heart failure... OMIM:230500
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Bowel incontinence, Conges... ORPHA:330001
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy ORPHA:254857
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyo... ORPHA:66634
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated cardiomyopath... ORPHA:20
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... ORPHA:79327
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Esophageal stenosis, Decreased serum iron, Esophageal stricture, Dilated cardi... ORPHA:89842
Spontaneous Periodic Hypothermia
Nausea and vomiting, Arrhythmia, Pallor, Diarrhea ORPHA:29822
Prune Belly Syndrome
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract ... ORPHA:2970
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Erythema, Neuromuscular dy... ORPHA:449285
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Dilated cardiomyopathy ORPHA:272
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98853
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Cleft palate, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita, H... OMIM:618265
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Short stature, Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone leve... OMIM:202010
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellu... ORPHA:231226
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Mildly elevated creatine kinase ORPHA:59135
Beta-Thalassemia
Hypogonadotropic hypogonadism, Skin ulcer, Pallor, Abnormality of iron homeostasis, Hypertrophic ... ORPHA:848
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Pallor, Failure to t... ORPHA:99931
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98855
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary urgency, Recurrent urinary tract infections, Flexion contracture, Urinary retention ORPHA:99027
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... OMIM:310200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis OMIM:278300
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Urinary retention OMIM:617799
Optic Atrophy 1
Pallor OMIM:165500
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Pallor, Dysphagia OMIM:606353
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia ORPHA:3222
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100080
Prune Belly Syndrome
Hydroureter, Xerostomia, Aplasia of the abdominal wall musculature, Congenital posterior urethral... OMIM:100100
Adenohypophysitis
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... ORPHA:95512
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Retinitis Pigmentosa 51
Pallor, Abnormality of the kidney, Obesity OMIM:613464
Neuroendocrine Tumor Of The Rectum
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... ORPHA:100082
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... ORPHA:73224
Aapoaiv Amyloidosis
Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine concentration, Cardi... ORPHA:439232
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Hyperthyroidism, Elevated circulating creatine kinase concentration, Diabete... ORPHA:254892
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Abnormal cardiac ventricular function, Elevate... ORPHA:2394
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:95513
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Pallor, Increased total bilirubin ORPHA:90036
Acute Transverse Myelitis
Urinary incontinence, Upper limb muscle weakness, Paralytic ileus, Urinary retention, Urinary bla... ORPHA:139417
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Diarrhea, Death in adolescence, Proximal tubulopathy, Vomiting, Death in childhood, Typ... OMIM:560000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopat... OMIM:249270
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... OMIM:212112
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Death in infancy, Elevated circulating creatine kinase concentration, Feeding diffi... OMIM:610505
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:602541
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Short stature, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy... OMIM:613989
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:91355
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Diarrhea, Hyperammonemia, Weight loss, Hypertension, Vomiting, Hyperuricemia... ORPHA:134
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Beta-Thalassemia Major
Hypoparathyroidism, Hypopituitarism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellu... ORPHA:231214
Parkes Weber Syndrome
Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Lower limb muscle weakn... ORPHA:90307
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Anorexia, Renal salt wasting, Vomiting, Hyponatremia, Impai... ORPHA:361
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopat... OMIM:616541
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiomegaly, Congesti... OMIM:212140
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis OMIM:617127
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse OMIM:145350
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, High-output congestive heart fai... ORPHA:231222
Al Amyloidosis
Increased circulating NT-proBNP concentration, Xerostomia, Hypoalbuminemia, Abnormal EKG, Abnorma... ORPHA:85443
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... OMIM:617661
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Adrenal insufficiency, Dyspha... OMIM:615510
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Patent ductus arteriosu... ORPHA:589821
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hyponatremia, Recurrent urinary tract infections, Renal insufficienc... ORPHA:731
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:201475
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Abdom... ORPHA:892
Hemoglobin D Disease
Pallor, Abdominal pain ORPHA:90039
Mcleod Syndrome
Atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, ... OMIM:300842
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Pulmon... ORPHA:79282
Analbuminemia
Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester... OMIM:616000
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kin... OMIM:212138
Esophageal Atresia
Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anoma... ORPHA:1199
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Cold Agglutinin Disease
Nausea and vomiting, Abnormal urinary color, Diarrhea, Pallor ORPHA:56425
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d... ORPHA:100075
X-Linked Sideroblastic Anemia
Pallor, Abnormality of iron homeostasis ORPHA:75563
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Heart murmur, Multiple bladder diverticula, Atrial sep... ORPHA:2728
Leishmaniasis
Anorexia, Skin ulcer, Weight loss, Hypoalbuminemia, Pallor ORPHA:507
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Diarrhea, Dilated cardiomyopathy, Erythema, Vomiting, Death in childhood, Left ventr... OMIM:618321
X-Linked Immunoneurologic Disorder
Myopathy, Functional abnormality of the bladder ORPHA:2571
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Cachexia, Urinary retention, Slender build ORPHA:1328
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent urinary tract infections, Anorexia, Diarrhea, Gastroesophageal ref... ORPHA:90045
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Short stature,... OMIM:616007
Sacral Defect With Anterior Meningocele
Rectal abscess, Neurogenic bladder, Urinary retention OMIM:600145
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Ganglioneuromatosis, El... ORPHA:653
Ileal Neuroendocrine Tumor
Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intestinal obstruction, Episod... ORPHA:100078
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Abnormal cardiac ventricular function, Severe short stature, ... ORPHA:90349
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Erythema, C... OMIM:557000
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Cleft ... ORPHA:107
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Pallor ORPHA:163596
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Unilateral renal agenesis, High palate, Failure to thrive, Hydronephrosis OMIM:609757
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Dilated cardiomyopathy, Hypospadias, Feeding difficulties OMIM:603736
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Renal insufficiency, Anorexia, Abdominal pain, Hyperammonemia, Feeding diffi... ORPHA:79312
Imerslund-Gräsbeck Syndrome
Tachycardia, Proteinuria, Poor appetite, Weight loss, Vomiting, Pallor, Constipation, Failure to ... ORPHA:35858
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Pericardial effusion, Elevated ci... OMIM:618183
Breath-Holding Spells
Pallor OMIM:607578
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Increased urinary glycerol, Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperur... ORPHA:348
Bardet-Biedl Syndrome 17
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Obesi... OMIM:615994
Mitochondrial Dna-Associated Leigh Syndrome
Multiple glomerular cysts, Cardiac conduction abnormality, Hepatic failure, Dilated cardiomyopath... ORPHA:255210
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Congestive heart failure, Pallor ORPHA:90033
Desmoid Tumor
Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti... ORPHA:873
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Hiatus hernia,... ORPHA:3342
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Short stature, Elevated circulating creatine kinase concentration, Feeding difficulties, Esophagi... OMIM:615356
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Feeding difficulties, Hypotension, Postural hypotension... ORPHA:369873
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Evans Syndrome
Pallor, Syncope, Epistaxis, Petechiae ORPHA:1959
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Small for gestational age, Patent ductus arteriosus,... OMIM:617021
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hereditary Spherocytosis
Abdominal pain, Abdominal distention, Skin ulcer, Growth delay, Pallor, Hyperbilirubinemia, Restr... ORPHA:822
Myopathic Ehlers-Danlos Syndrome
Pallor, Failure to thrive, Mildly elevated creatine kinase ORPHA:536516
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... ORPHA:66529
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circulating growth ho... ORPHA:97287
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Pallor, Male hypogonadi... ORPHA:91347