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Gene: Myh11 MGI:102643

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:606685
Late-Onset Familial Hypoaldosteronism
Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyp... ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Vomiting, Failure to thrive, Hyponatremia, Feeding difficulties in infancy, Decrease... OMIM:203400
Early-Onset Familial Hypoaldosteronism
Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyp... ORPHA:556030
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613286
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Mungan Syndrome
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gast... OMIM:611376
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Megacystis, Intestinal pseudo-obstruction, ... OMIM:619350
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... OMIM:611880
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria,... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Failure to thrive, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria,... OMIM:304800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Abdominal distention, Hypoperist... OMIM:619365
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Megacystis, Myopathy, Abnormal intestine mo... ORPHA:977
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Familial Hypoaldosteronism
Hypotension, Diarrhea, Failure to thrive, Adrenal insufficiency, Increased circulating renin leve... ORPHA:427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Cardiomyopathy, Dilated, 3B
Increased circulating creatine kinase MB isoform, Dilated cardiomyopathy, Increased left ventricu... OMIM:302045
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoa... OMIM:177735
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Hyperphosphatemia, Decreased body weight, Hematuria, Acute tubu... ORPHA:340
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Vomiting, Decreased cir... ORPHA:79159
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Renal cortical hyperechogenicity, Microcolon, Anuria, Megacystis, Ileal atre... OMIM:619351
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in childhood, Death in ... OMIM:618189
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611615
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Nausea... ORPHA:2241
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Gastroesophageal reflux, Intrauterine growth retardation, Decreased body ... OMIM:618097
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Gitelman Syndrome
Hypotension, Hypocalciuria, Growth delay, Renal magnesium wasting, Failure to thrive, Enuresis, V... OMIM:263800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Diarrhea, Anuria, Elevated circulating creatinine concentration, Hyperlipide... OMIM:235400
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Renal Tubular Dysgenesis
Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Acute kidney injury, Anuria, Gast... ORPHA:544482
Acute Adrenal Insufficiency
Diarrhea, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Renal salt wastin... ORPHA:95409
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Vomiting, Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium... OMIM:241150
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Vomiting, Failure to thrive in infancy, Abnormal circulating aldosterone, Incr... ORPHA:171876
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Hyperaldosteronism, Increased uri... OMIM:607364
Systemic Capillary Leak Syndrome
Hypotension, Diarrhea, Oliguria, Renal insufficiency, Arrhythmia, Weight loss, Abnormal renal tub... ORPHA:188
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Congestive heart failure, Pallor, Aganglionic megacolon, Arrhythmia, Ac... ORPHA:3386
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased circulating carnitine concentration OMIM:611283
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Unconjugated hyperbilirubinemia, Bloody diarrhea... ORPHA:90038
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal... OMIM:155310
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Diarrhea, Third degree atrioventricular block... OMIM:601419
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia, Micropenis, H... OMIM:618815
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ... ORPHA:97362
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Vom... ORPHA:90791
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria, Cardiomyopathy OMIM:613657
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, P... OMIM:610198
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... OMIM:620152
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Failure to thrive, Nasoga... ORPHA:1018
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypertension, ... OMIM:612780
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention ORPHA:2795
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... OMIM:601678
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... OMIM:615184
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Elevated urine suberic acid level, Methylmalonic aciduria, Vomiting, Dilated cardiomyop... OMIM:248360
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276575
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Dilated cardiomyopathy, Poor suck, Decreased body weight OMIM:300580
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Achalasia, Raynaud phenomenon, Dysphagia OMIM:615750
Brain-Lung-Thyroid Syndrome
Growth delay, Failure to thrive, Megacystis, Elevated circulating thyroid-stimulating hormone con... ORPHA:209905
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Foot dorsiflexor weakness, Skeletal muscle atrophy, Urinary retention OMIM:616586
Microcephaly-Cardiomyopathy Syndrome
Short stature, Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Addison Disease
Diarrhea, Adrenal calcification, Dry skin, Nausea and vomiting, Weight loss, Anorexia, Hypoparath... ORPHA:85138
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H... OMIM:255160
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis OMIM:619431
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... ORPHA:94080
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, Obesity, Bicuspid aortic valve, Atrial septal defect, Diabe... OMIM:615981
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycar... ORPHA:49827
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Mirage Syndrome
Gastroesophageal reflux, Hyperkalemia, Microphallus, Recurrent urinary tract infections, Intraute... OMIM:617053
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concen... ORPHA:206546
Sepsis In Premature Infants
Hypotension, Diarrhea, Oliguria, Vomiting, Decreased liver function, Functional abnormality of th... ORPHA:90051
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Xerostomia, Gastroesophageal reflux, Skin ulcer, Congestive heart ... ORPHA:220393
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomyopathy, Conge... OMIM:608099
Cyclic Vomiting Syndrome
Vomiting, Cardiomyopathy, Pallor, Nausea, Gastrointestinal dysmotility, Anorexia, Abdominal pain,... OMIM:500007
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c... OMIM:616730
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Oliguria, Epistaxis, Erythema, Congestive hear... ORPHA:727
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste... ORPHA:199343
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Hepatic failure, Oliguria, Decreas... ORPHA:159
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Bifid uvula, Abnormality of the urinary system ORPHA:2669
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Urinary retention, Lower limb muscle weakness, Distal lowe... ORPHA:79093
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Dilated cardiomyopathy, Nephrolithiasis, Elevated circulating creatine kinase concentra... ORPHA:352447
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatin... OMIM:618120
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Scleromyxedema
Gastroesophageal reflux, Transient ischemic attack, Elevated circulating creatine kinase concentr... ORPHA:167635
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Myopathy, Distal, 1
Left atrial enlargement, Dilated cardiomyopathy, Mildly elevated creatine kinase, Elevated circul... OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604286
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Fabry Disease
Nephropathy, Nausea and vomiting, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Anorexi... ORPHA:324
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu... ORPHA:732
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... OMIM:241200
Bartter Syndrome Type 4
Chronic kidney disease, Severe failure to thrive, Renal salt wasting, Acute kidney injury, Increa... ORPHA:89938
Colchicine Poisoning
Hypotension, Diarrhea, Vomiting, Oliguria, Cardiogenic shock, Congestive heart failure, Hypomagne... ORPHA:31824
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:300718
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Failure to thrive in infancy, Elbow flexion contracture, Vesicouretera... ORPHA:85285
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Congestive hear... OMIM:602390
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
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:289548
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles... ORPHA:168558
Fatal Familial Insomnia
Weight loss, Urinary retention OMIM:600072
Familial Visceral Myopathy
Hydroureter, Megacystis, Camptodactyly of finger, Vesicoureteral reflux, Aganglionic megacolon, A... ORPHA:2604
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Achalasia ORPHA:3239
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Cardiomyopathy, Supraventricular tachycardia, Elevated circulating creatine kin... OMIM:255100
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function, Elevated circulating creatine kinase concentra... OMIM:616827
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive, Anorexia ORPHA:79283
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Porphyria, Acute Intermittent
Urinary retention, Paralytic ileus, Urinary incontinence, Elevated urinary delta-aminolevulinic a... OMIM:176000
Congenital Myopathy 2A, Typical, Autosomal Dominant
Dilated cardiomyopathy, Slender build, Feeding difficulties in infancy, Dysphagia, Mildly elevate... OMIM:161800
Gaisböck Syndrome
Nephrocalcinosis, Peptic ulcer, Hypernatriuria, Elevated diastolic blood pressure, Obesity, Incre... ORPHA:90041
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Abnorm... ORPHA:320
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Cholera
Hypovolemic shock, Acute kidney injury, Diarrhea, Vomiting, Hypotension, Abnormal blood ion conce... ORPHA:173
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block, Elevate... ORPHA:206559
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Pallor, Hyperinsul... ORPHA:324575
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr... OMIM:611705
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Failure to thrive, Hypertrophic cardiomyopathy, Pallor, Dysphagia OMIM:613561
Dpm3-Cdg
Dilated cardiomyopathy, Elevated creatine kinase after exercise ORPHA:263494
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Diarrhea, Vomiting, Failure to thrive, Dilated cardi... ORPHA:71212
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Tricuspid regurgitation, Left ... OMIM:619167
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti... ORPHA:79276
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Diarrhea, Vomiting, Hypotension, Heart block, Reduced left ventricular eject... ORPHA:542323
Iatrogenic Botulism
Xerostomia, Urinary retention ORPHA:254509
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Achalasia-Microcephaly Syndrome
Growth delay, Achalasia ORPHA:929
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Constipa... ORPHA:85447
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Increased circulating ferritin concentration, Hypogonadism, Abnormality o... ORPHA:79230
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration ORPHA:34515
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Perimembranous... OMIM:600987
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Reduced systolic function,... OMIM:618805
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypertension, Pulmonary arterial hypertension, Atrial septal defect, Hypo... OMIM:613834
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Vomiting, Hypotensio... ORPHA:85445
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Nausea and vomiting, Pallor, Abnormal mitra... ORPHA:3099
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Inhalational Botulism
Xerostomia, Urinary retention ORPHA:254504
Yellow Fever
Acute kidney injury, Diarrhea, Vomiting, Anuria, Shock, Reduced left ventricular ejection fractio... ORPHA:99829
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Abdominal d... OMIM:214700
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Intrauterine growth retardation, Redundant neck skin, Neonatal death, Hyperprolin... OMIM:619003
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Mildly elevated creatine kinase, Feeding difficulties, Dilated cardiomyo... ORPHA:171442
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertensio... ORPHA:401923
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Vomiting, Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentrat... OMIM:600649
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Weight loss, Glomerular sclerosis, Paraganglioma of head and neck, Palpitations, Pallo... ORPHA:276621
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur... OMIM:620609
Lujo Hemorrhagic Fever
Hypotension, Diarrhea, Oliguria, Vomiting, Subconjunctival hemorrhage, Shock, Renal insufficiency... ORPHA:319213
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Fulminant hepatic fai... OMIM:231530
Spinal Cord Injury
Paralytic ileus, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Tetrasomy 18P
Syncope, Achalasia ORPHA:3307
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Lassa Fever
Diarrhea, Oliguria, Shock, Nausea and vomiting, Abdominal pain, Dysphagia, Miscarriage ORPHA:99824
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Failure to thrive, Cong... OMIM:609015
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypogonadism, Hyperammonem... ORPHA:254913
Triple A Syndrome
Short stature, Adrenal insufficiency, Achalasia, Anterior hypopituitarism ORPHA:869
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... ORPHA:99901
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Botulism
Xerostomia, Urinary retention ORPHA:1267
Wound Botulism
Urinary retention ORPHA:178475
Autosomal Recessive Spastic Paraplegia Type 9B
Pollakisuria, Urinary retention, Skeletal muscle atrophy ORPHA:447760
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Ureterocele, Urinary retention, Rec... ORPHA:79404
Cleft Larynx, Posterior
Aspiration OMIM:215800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Pallor, Isothenuria, Hypokale... OMIM:611590
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, D... OMIM:611126
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Vomiting, Failure to thrive, Medullary nephrocalcinosis, Hypercalcemia, Nephrol... OMIM:143880
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Death in childhood, Death in infancy, Reduced systolic function, Ebstein ... OMIM:619492
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Foodborne Botulism
Xerostomia, Urinary retention ORPHA:228371
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age, Neonatal death OMIM:300076
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Arrhythmia, Nausea, C... OMIM:615084
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Achalasia, Decreased response to growth hormone stimulation test ORPHA:436174
Leprechaunism
Megarectum, Nephrocalcinosis, Long penis, Abdominal distention, Failure to thrive, Central hypoth... ORPHA:508
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal... ORPHA:26793
Polyarteritis Nodosa
Erythema, Skin ulcer, Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Ray... ORPHA:767
Solitary Fibrous Tumor
Weight loss, Urinary retention ORPHA:2126
Deafness, Congenital, With Vitiligo And Achalasia
Short stature, Achalasia OMIM:221350
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Increased serum py... ORPHA:1349
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Muscular Dystrophy, Cardiac Type
Carnosinuria, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Dk1-Cdg
Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Congestive heart failure, I... ORPHA:91131
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Posterior Column Ataxia With Retinitis Pigmentosa
Urinary incontinence, Achalasia, Recurrent urinary tract infections OMIM:609033
Thyrotoxic Periodic Paralysis
Urinary retention, Lower limb muscle weakness, Obesity, Rhabdomyolysis, Decreased urinary potassi... ORPHA:79102
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula... OMIM:614096
Adrenomyeloneuropathy
Leg muscle stiffness, Urinary retention, Urinary bladder sphincter dysfunction, Distal lower limb... ORPHA:139399
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy, Dysphagia, Failure to thrive, Feeding difficulties OMIM:255310
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Cardiomyocyte hypertrophy, D... OMIM:605676
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:252011
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Death in early adulthood, Achalasia, Dysphagia ORPHA:79107
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Weight loss, Glomerular sclerosis, Paraganglioma of head and neck, Palpitations, Pallo... ORPHA:29072
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D... ORPHA:280679
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Failure to thrive, Cardiomyopathy, Intrauterine growth retardation, Renal... ORPHA:324525
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Dystonia-Deafness Syndrome 1
Dysphagia, Achalasia, Small for gestational age, Pseudobulbar paralysis OMIM:607371
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Immunodeficiency 70
Celiac disease, Colitis, Achalasia OMIM:618969
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Vomiting, Diarrhea, Failure ... OMIM:610768
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu... OMIM:619482
Myopathy, Centronuclear, 5
Abnormal circulating creatine kinase concentration, Dilated cardiomyopathy, Mitral regurgitation OMIM:615959
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Abnormal circulating aldosterone, Decreased cir... OMIM:300539
Barth Syndrome
Dilated cardiomyopathy, Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio, Conges... OMIM:302060
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Decreased response to growth hormone stimulation test, Intrau... OMIM:609053
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Renal agenesis, Congestive heart failure, Mitral re... ORPHA:2326
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pallor, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsuline... ORPHA:276608
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Neonatal death, Hydronephrosis, Renal cyst, Small thenar eminence... OMIM:613390
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Failure to thrive, Car... OMIM:615895
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Hydroureter, Renal agenesis, Ureterocele, Megacystis, Xerostomia, Anteriorly place... OMIM:604292
Melas
Nephropathy, Erythema, Diarrhea, Intestinal pseudo-obstruction, Type II diabetes mellitus, Hypopa... ORPHA:550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Feeding difficulties in infancy, Arrhythmia, Polycystic kidney dysplasia, Renal dysplas... OMIM:608836
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis, Achalasia, Dysphagia ORPHA:289483
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Glycosuria, Large for gestational age, Hyperinsulinemia, Pallor, Hypophosphat... ORPHA:263455
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... OMIM:300845
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Abnormal urinary color, Pallor, Tachycardia ORPHA:90037
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypertension, Hypokalemia, Decreased circul... OMIM:218030
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ur... OMIM:618845
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Anal atresia OMIM:235760
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Dilated cardiomyopathy, Abnormal left ventricular function, Eleva... OMIM:607155
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Renal atrophy, Hydronephrosis, Facial hypotonia,... OMIM:618578
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Abnormal intestine morphology, Hypot... OMIM:615952
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Liddle Syndrome 1
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost... OMIM:177200
Methylmalonic Aciduria, Cblb Type
Vomiting, Ketonuria, Methylmalonic aciduria, Failure to thrive, Dilated cardiomyopathy, Elevated ... OMIM:251110
Ethylene Glycol Poisoning
Hypotension, Vomiting, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal ... ORPHA:31826
Propionic Acidemia
Organic aciduria, Cardiomyopathy, Hyperammonemia, Arrhythmia, Constipation ORPHA:35
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Anal atresia, Renal hypoplasia/aplasia ORPHA:195
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Achalasia-Addisonianism-Alacrima Syndrome
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... OMIM:231550
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Vomiting, Dilated cardiomyopathy, Ventricular septal defect, Hydron... OMIM:614921
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Urinary retention ORPHA:79124
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyperaldosteronism, Hyponatremia, Feeding dif... OMIM:264350
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Vomiting, Oliguria, Hepatic failure, Decreased liver function, Hypotension, ... ORPHA:466650
Peripheral Cone Dystrophy
Pallor OMIM:609021
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... ORPHA:231625
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Hypercal... OMIM:613677
Benign Paroxysmal Torticollis Of Infancy
Vomiting, Pallor ORPHA:71518
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Heart murmur ORPHA:1054
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Skeletal muscle atro... ORPHA:90324
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism, Oliguria, Anorexia ORPHA:514
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Partial atr... OMIM:615996
Neutrophilic Dermatosis, Acute Febrile
Erythema, Dilated cardiomyopathy, Elevated circulating C-reactive protein concentration, Pyoderma... OMIM:608068
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Hypomethioninemia, Hematuria, Feeding difficulties in infancy, Tachycardia, Methylma... OMIM:277400
Bohring-Opitz Syndrome
Congenital contracture, Urinary retention, Nephroblastoma, Severe failure to thrive, Facial hypot... ORPHA:97297
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypophosphatemic rickets... OMIM:208000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Vomiting, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyperglycinemia, Death in infancy OMIM:614299
Wild Type Attr Amyloidosis
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Failure to thrive, Decreased liver func... ORPHA:367
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Li-Campeau Syndrome
Patent foramen ovale, Ventricular septal defect, Gastrointestinal dysmotility, Hypothyroidism, Mi... OMIM:619189
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Gm1-Gangliosidosis, Type I
Severe short stature, Abnormality of the urinary system, Dilated cardiomyopathy, Congestive heart... OMIM:230500
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Left ve... OMIM:613426
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Volvulus, Recurrent urinary tract i... ORPHA:2970
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Diarrhea, Ketonuria, Dilated cardiomyopathy, Pallor, Hype... ORPHA:20
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... OMIM:620519
Amyloidosis, Finnish Type
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Decreased hear... OMIM:105120
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Muscular ventricular se... ORPHA:66634
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Cardiomyopathy, Abnormal h... ORPHA:79327
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Failure to thrive, Pallor, Cardiomegaly, Glomerulonephritis, Heart m... ORPHA:99931
Spontaneous Periodic Hypothermia
Arrhythmia, Diarrhea, Nausea and vomiting, Pallor ORPHA:29822
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Gastroesophageal reflux, Growth delay,... ORPHA:89842
Snakebite Envenomation
Epistaxis, Acute kidney injury, Neuromuscular dysphagia, Vomiting, Diarrhea, Hypotension, Pseudob... ORPHA:449285
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Mildly elevated creatine kinase ORPHA:59135
Beta-Thalassemia
Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Hypogonadotropic hypogonadism, Abnormality of ir... ORPHA:848
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Arthrogryposis multiplex congenita,... OMIM:618265
Muscular Dystrophy, Becker Type
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:300376
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Dilated cardiomyopathy ORPHA:272
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Dominant Beta-Thalassemia
Diarrhea, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Hypopituitarism, Adre... ORPHA:231226
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Elevated circulat... OMIM:310200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Hydroureter, Abnormal heart morphology, Neonatal death, Hydronephrosis, Abdominal dis... OMIM:619362
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Diarrhea, Ketonuria, Elevated urinary 3-methylcroto... OMIM:246450
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Melena, Lack of bowel sounds... ORPHA:100080
Aapoaiv Amyloidosis
Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm... ORPHA:439232
Intellectual Developmental Disorder, Autosomal Dominant 54
Urinary retention, Small for gestational age OMIM:617799
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Protracted diarrhea, Weight ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Protracted diarrhea, Weight ... ORPHA:100082
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Obesity, Increased LDL... ORPHA:98855
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Urinary urgency, Urinary retention, Recurrent urinary tract infections ORPHA:99027
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Retinitis Pigmentosa 51
Obesity, Pallor, Abnormality of the kidney OMIM:613464
Primary Lateral Sclerosis, Juvenile
Dysphagia, Pallor, Pseudobulbar paralysis OMIM:606353
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating ... ORPHA:231580
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Recurrent urinary t... ORPHA:90349
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Acute Transverse Myelitis
Upper limb muscle weakness, Urinary retention, Urinary bladder sphincter dysfunction, Distal lowe... ORPHA:139417
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Decreased circulating cortisol level, Achalasia, Abnormal circu... OMIM:607398
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Death in c... OMIM:560000
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension ORPHA:3222
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia, Pallor, Abnormal urinary color ORPHA:90036
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Dilated cardiomyopathy, Failure to thrive, Goiter, Gastroparesis, Reduce... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ... OMIM:610505
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septa... OMIM:249270
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Beta-Ketothiolase Deficiency
Hypotension, Diarrhea, Vomiting, Ketonuria, Pallor, Hyperammonemia, Hyperuricemia, Weight loss, A... ORPHA:134
Prune Belly Syndrome
Xerostomia, Hydroureter, Hydronephrosis, Anal atresia, Aplasia of the abdominal wall musculature,... OMIM:100100
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... ORPHA:95513
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai... ORPHA:73224
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Hypergo... OMIM:212112
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Precocious puberty, Long pe... ORPHA:90795
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Failure to thrive, Urethral stricture, Short stature, Chronic diarrhea, E... OMIM:613989
Parkes Weber Syndrome
Abnormality of the urinary system, Urinary retention, Lower limb muscle weakness, Muscle hypertro... ORPHA:90307
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Sheehan Syndrome
Dry skin, Central adrenal insufficiency, Decreased serum estradiol, Obesity, Palpitations, Pallor... ORPHA:91355
Familial Glucocorticoid Deficiency
Diarrhea, Impaired cortisol response to insulin stimulation test, Decreased circulating dehydroep... ORPHA:361
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased circul... ORPHA:90793
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:602541
Beta-Thalassemia Major
Diarrhea, Dilated cardiomyopathy, Skin ulcer, Failure to thrive in infancy, Hypopituitarism, Adre... ORPHA:231214
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Failure to thrive, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardio... OMIM:212140
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Failure to thrive, Biventricular hypertrophy, Coronary artery fistula, Co... OMIM:619343
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Disproportionate short-limb ... OMIM:616541
Orofaciodigital Syndrome Xv
Hydronephrosis, Lobulated tongue OMIM:617127
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Ectopic Aldosterone-Producing Tumor
Epistaxis, Renal cortical adenoma, Decreased circulating renin level, Hypokalemia, Nausea, Hypert... ORPHA:231632
Neonatal Lupus Erythematosus
Hepatic failure, Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnor... ORPHA:398124
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia, Hypoplastic left... OMIM:617661
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Bundle branch block, Obesity, Encopresis, Decreased body weigh... ORPHA:589821
Alstrom Syndrome
Nephritis, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure,... OMIM:203800
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Achalasia, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Feedin... OMIM:615510
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Hypotaurinemia, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Hemoglobin D Disease
Abdominal pain, Pallor ORPHA:90039
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Feeding diffi... ORPHA:1199
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Protracted diarrhea, Nausea ... ORPHA:100075
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Acute kidney injury, Oliguria, Growth delay, Gastrointestinal hemorrh... ORPHA:731
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... ORPHA:85443
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Pallor, Abnormal urinary color ORPHA:56425
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Pallor, Elevated urinary ... ORPHA:892
Beta-Thalassemia Intermedia
Proximal tubulopathy, Skin ulcer, Decreased liver function, Hypogonadism, Adrenal insufficiency, ... ORPHA:231222
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Vomiting, Diarrhea, Dilated cardiomyopathy, Death in childhood, Left ventricular hypert... OMIM:618321
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Hydroureter, Fetal megacystis OMIM:249210
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Leishmaniasis
Hypoalbuminemia, Skin ulcer, Pallor, Weight loss, Anorexia ORPHA:507
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Pallor ORPHA:75563
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Nausea ... ORPHA:90045
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Reduced haptoglobin level, Elevated circulating creatine ... OMIM:300842
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Telangiecta... OMIM:616007
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Ketonuria, Failure to thrive, Methylmalonic aciduria, Pulmonary embolism,... ORPHA:79282
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Postnatal growth retardation, Intrauterine growth retardation, Prot... ORPHA:2728
Camurati-Engelmann Disease
Skeletal muscle atrophy, Urinary retention, Slender build, Cachexia, Facial palsy ORPHA:1328
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Myopathy ORPHA:2571
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Vomiting, Atrial flutter, Failure to thri... ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Achalasia OMIM:300858
Multiple Endocrine Neoplasia Type 2
Diarrhea, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamine level, Parathyro... ORPHA:653
Optic Atrophy 1
Pallor OMIM:165500
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Erythema, Hepatic failure, Vomiting, Type I diabetes mellitus, Failure... OMIM:557000
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Failure to thrive, Hydronephrosis, High palate, Small for gestational age OMIM:609757
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria OMIM:278300
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic acidur... OMIM:212138
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Re... ORPHA:2973
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Congestive heart failure ORPHA:163596
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H... OMIM:174000
Ileal Neuroendocrine Tumor
Increased serum serotonin, Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal ... ORPHA:100078
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Imerslund-Gräsbeck Syndrome
Vomiting, Failure to thrive, Pallor, Proteinuria, Weight loss, Constipation, Tachycardia, Poor ap... ORPHA:35858
Evans Syndrome
Epistaxis, Syncope, Pallor, Petechiae ORPHA:1959
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hepatic failure, Hypotension... ORPHA:97287
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Feeding difficulties in infancy, Macroscopi... OMIM:248250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Cardiac ... ORPHA:255210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Intrauterine growth retardation, Esophagitis, Elevated circulating creatine kinase concentration,... OMIM:615356
Breath-Holding Spells
Pallor OMIM:607578
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Elevated circulati... OMIM:618183
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure, Pallor, Abnormal urinary color ORPHA:90033
Sacral Defect With Anterior Meningocele
Neurogenic bladder, Urinary retention, Rectal abscess OMIM:600145
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath... OMIM:300952
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyo... ORPHA:3342
Ohdo Syndrome, Sbbys Variant
Hypothyroidism, Dilated cardiomyopathy, Hypospadias, Feeding difficulties OMIM:603736
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Vomiting, Diarrhea, Increased urinary glycerol, Pallor, Hyperuricemi... ORPHA:348
Noonan Syndrome 8
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Mitral regurgitation, ... OMIM:615355
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Decreased liver function, Intrauterine gro... OMIM:617021
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyur... OMIM:615994
Type 1 Diabetes Mellitus