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
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556037
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:606685
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Vomiting, Increased circulating renin... OMIM:203400
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Feeding difficulties, Orthostatic hyp... ORPHA:556030
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Mungan Syndrome
Tricuspid regurgitation, Barrett esophagus, Abdominal pain, Pulmonic stenosis, Hypoperistalsis, R... OMIM:611376
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, ... OMIM:618250
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... OMIM:604765
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Death in middle age, Increased left ventricular end-diastolic volume, Con... OMIM:613286
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... OMIM:610600
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Nephrogenic diabetes insipidus, Constipation, Short stature, Polyuria, Vomitin... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Constipation, Short stature, Polyuria, Vomiting, Hypernatremia, Feeding diffic... OMIM:304800
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Gastroesophageal reflux, Short stature, Dilated cardiomyopathy, Intrauteri... OMIM:618097
Familial Hypoaldosteronism
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Feeding diffic... ORPHA:427
Adrenomyodystrophy
Failure to thrive, Abnormality of the urinary system, Myopathy, Abnormal intestine morphology, Me... ORPHA:977
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... ORPHA:93110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Nephrolithiasis, Abdominal distention, Recurrent urinary tract infections, Hypoperistalsis, Fetal... OMIM:619365
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... OMIM:302045
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Failure to thrive, Feeding difficulties, Diarrhea, Vomiting... OMIM:177735
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Pulmonic stenosis, Vomiting, Dicarboxylic acidu... ORPHA:79159
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Elevated circulating... ORPHA:340
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Abdominal distention, Intestinal malrotation, Hydroureter, Multicystic kid... ORPHA:2241
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Elevated pulmonary artery pressure, Ileal atresia, Renal corti... OMIM:619351
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Constipation, Abdominal pain, Polyuria, Hypocalci... OMIM:263800
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Diarrhea, Elevated circulating creatinine concentr... OMIM:235400
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1X
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Increased left ventri... OMIM:611615
Acute Adrenal Insufficiency
Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ... ORPHA:95409
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Microcolon, Megacystis OMIM:619362
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Renotubular dysgenesis, Hypotension OMIM:267430
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Diarrhea, Vomiting, Myocarditis, Decreased urine output, Anuria, Hypertension, ... ORPHA:544482
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia, Cardiomyopathy OMIM:613657
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Vomiting, Increased circulating renin level, Nause... OMIM:241150
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Failure to thrive, Cardiomyopathy OMIM:613752
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Death in childhood, Dilated cardiomyopathy, Death in infancy OMIM:618189
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, 3-Methylglutaric aciduria, Hypospadias, Sudden cardiac death, Di... OMIM:610198
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Dysphagia, Achalasia, Ischemic stroke, Hypertension OMIM:615750
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Duplication Of Urethra
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Anal atresia, Mic... ORPHA:237
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Intrauterine growth reta... ORPHA:320
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldosteronism, Arrhythmia, Vomiting, I... ORPHA:171876
Atresia Of Urethra
Abdominal distention, Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, B... ORPHA:105
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy OMIM:611283
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Hypokalemia, Intussusception, Abdominal pain, Hemoglobinuria, Per... ORPHA:90038
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Urinary retention, Dyspha... OMIM:155310
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... OMIM:607364
American Trypanosomiasis
Abdominal pain, Pallor, Diarrhea, Arrhythmia, Myocarditis, Cardiomyopathy, Achalasia, Aganglionic... ORPHA:3386
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Myopathy, Myofibrillar, 1
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... OMIM:601419
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, B... OMIM:618815
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Systemic Capillary Leak Syndrome
Abdominal pain, Abnormal renal tubule morphology, Diarrhea, Arrhythmia, Myocarditis, Hypotension,... ORPHA:188
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... OMIM:601678
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Abdominal pain, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Olig... OMIM:614723
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Constipation, Abdominal pain, Short stature, Methy... OMIM:248360
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response... ORPHA:276575
Addison Disease
Thymoma, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, H... ORPHA:85138
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Poor suck, Decreased body weight, Dilated cardiomyopathy, Short stature OMIM:300580
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Chronic kidney disease, Esophageal neoplasm, Gastroesophageal reflux, Failure to thriv... ORPHA:1018
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Abnormal cardiac septum morphology, Failure to thrive, Abnormality of the thy... ORPHA:209905
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Intrauterine growth retardation, Short stature ORPHA:2515
Spastic Paraplegia 9B, Autosomal Recessive
Urinary retention, Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:616586
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Feeding difficulties, Excessive insulin response to glucagon test,... ORPHA:276556
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Hydroureter, Hydronephrosis, Microcolon, Megacystis OMIM:619431
Familial Isolated Dilated Cardiomyopathy
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy ORPHA:154
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy OMIM:604286
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Short stature, Anorexia, Pallor, Diarrhea, Paroxysmal atrial tachycardia, V... ORPHA:49827
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Elevated circulating creatine kinase concentration, Arrhythmia, Dilated car... OMIM:181350
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Hypogonadism, Obesity, Diabe... OMIM:615981
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Short stature, Polyuria, Hypocalciuria, Increased circulating renin ... OMIM:612780
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Feeding difficulties, Elevated circulating creatine kinase concentr... OMIM:255100
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypokalemia, Left ventricular hypertrophy, Ventricular septal defect, Biventricu... OMIM:615474
Sepsis In Premature Infants
Decreased liver function, Petechiae, Elevated circulating C-reactive protein concentration, Enter... ORPHA:90051
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... OMIM:300971
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentrati... ORPHA:352447
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:615184
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Short stature, Elevated circulating creatine kinase concentration, Death in... OMIM:255160
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Dilated cardiom... ORPHA:206546
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Renal magnesium wasting, Renal so... ORPHA:199343
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Myopathy, Distal, 1
Left atrial enlargement, Elevated circulating creatine kinase concentration, Dilated cardiomyopat... OMIM:160500
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Microscopic Polyangiitis
Abdominal pain, Peritonitis, Diarrhea, Arrhythmia, Hematuria, Vasculitis, Pericarditis, Oliguria,... ORPHA:727
Cleft Larynx, Posterior
Aspiration OMIM:215800
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Malabsorption, Gastroesophageal reflux, Abnormal bowel sounds, Xerost... ORPHA:220393
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Foix-Alajouanine Syndrome
Lower limb muscle weakness, Functional abnormality of the bladder, Urinary retention, Distal lowe... ORPHA:79093
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Episodic abdominal pain, Cerebral hemorrhage, Sinu... ORPHA:94080
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... OMIM:605676
Cyclic Vomiting Syndrome
Abdominal pain, Anorexia, Pallor, Vomiting, Nausea, Growth delay, Gastrointestinal dysmotility, C... OMIM:500007
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Scleromyxedema
Gastroesophageal reflux, Raynaud phenomenon, Abnormality of the kidney, Elevated circulating crea... ORPHA:167635
Mirage Syndrome
Adrenal insufficiency, Petechiae, Gastroesophageal reflux, Decreased body weight, Short stature, ... OMIM:617053
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... OMIM:241200
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Diarrhea, Arrhythmia, V... ORPHA:31824
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Vomiting, Increased circulating ren... ORPHA:89938
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Arrhythmia, Dilated ... OMIM:602390
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardio... OMIM:618120
Polymyositis
Abnormal mitral valve morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Abnormal... ORPHA:732
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Increased circulating free fatty acid level, Proportionate short stature, Int... ORPHA:71212
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Pallor, Myocardial infarction, Abnormality of v... ORPHA:90064
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc... ORPHA:289548
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy OMIM:300718
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Hematuria, Proteinuria, Abnormal myocardium morpholo... ORPHA:324
X-Linked Intellectual Disability, Schimke Type
High palate, Hip contracture, Elbow flexion contracture, Knee flexion contracture, Hydronephrosis... ORPHA:85285
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Vomiting, Inc... ORPHA:168558
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infection... OMIM:191800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy OMIM:612937
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... OMIM:103900
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Reduced systolic func... OMIM:616827
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Elevated circulating creatine kinase concentration, Pallor,... OMIM:268040
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Feeding difficulties in infancy, Dicarboxylic aciduria,... OMIM:231530
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Nemaline Myopathy 3
Slender build, Feeding difficulties in infancy, Dilated cardiomyopathy, Mildly elevated creatine ... OMIM:161800
Cardiomyopathy, Dilated, 2F
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... OMIM:619747
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Increased circulating brain natriuretic peptide concentration, Left... OMIM:601494
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Growth delay, Small for ... OMIM:218030
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Severe short stature ORPHA:3239
Porphyria, Acute Intermittent
Dysuria, Paralytic ileus, Elevated urinary delta-aminolevulinic acid, Urinary retention, Urinary ... OMIM:176000
Cholera
Abdominal cramps, Abnormality of renal excretion, Hypokalemia, Hypocalcemia, Abdominal pain, Hypo... ORPHA:173
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Failure to thrive, Pallor ORPHA:79283
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for gestational age,... ORPHA:324575
Familial Visceral Myopathy
Cleft palate, Hydroureter, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... ORPHA:2604
Dpm3-Cdg
Elevated creatine kinase after exercise, Dilated cardiomyopathy ORPHA:263494
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Right bundle branch b... ORPHA:206559
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Bifid uvula, Hydronephrosis ORPHA:2669
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Vomiting,... OMIM:143880
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Elevated diastolic blood pressure, Increased circ... ORPHA:90041
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... ORPHA:93101
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Diarrhea, Arr... OMIM:615084
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Diarrhea, Tachycardia, Vomiting, Arrhythmia, Hypotension, Elevated circulatin... ORPHA:542323
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hy... OMIM:613677
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Increased circulating cortisol level... ORPHA:231625
Acute Intermittent Porphyria
Dark urine, Dysuria, Ileus, Proximal muscle weakness in lower limbs, Urinary incontinence, Increa... ORPHA:79276
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy ORPHA:34515
Iatrogenic Botulism
Urinary retention, Xerostomia ORPHA:254509
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Short stature, IgA deposi... OMIM:618348
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... OMIM:300539
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Muscular Dystrophy, Congenital, Megaconial Type
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy OMIM:602541
Laryngotracheoesophageal Cleft
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Eleva... ORPHA:79230
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Hyperphosphatemia, Acute... ORPHA:99845
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hypoalbuminemia, Chronic diarrhea, Failure to thrive in infancy, Reduced ... OMIM:618805
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypokalemia, Renal insufficiency, Decreased circulating ... OMIM:177200
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Death in infancy, Vomiting, Hypertrophic cardiomyopathy OMIM:614299
Achalasia-Microcephaly Syndrome
Achalasia, Growth delay ORPHA:929
Salih Myopathy
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy OMIM:611705
Rheumatic Fever
Abnormal mitral valve morphology, Nephrotic syndrome, Constipation, Abdominal pain, Anorexia, Pal... ORPHA:3099
Yellow Fever
Supraventricular arrhythmia, Hyperbilirubinemia, Abdominal pain, Hematemesis, Elevated circulatin... ORPHA:99829
Inhalational Botulism
Urinary retention, Xerostomia ORPHA:254504
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Intestinal malrotation, Hypoperistalsis, Patent ductus arteriosus, Hyperten... OMIM:613834
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Short stature, Renovascular hypertension, Aorti... ORPHA:401923
Attrv30M Amyloidosis
Atrioventricular block, Constipation, Abnormal renal physiology, Diarrhea, Nephropathy, Arrhythmi... ORPHA:85447
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating cr... OMIM:300257
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Tricuspid regurgitation, Feeding difficulties, Left ventricular hypertrophy, Left vent... OMIM:619167
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Dilated cardiomyopathy, Feeding difficulties, Mildly elevated creatine k... ORPHA:171442
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Amyloidosis, Finnish Type
Cardiac amyloidosis, Nephrotic syndrome, Cutis laxa, Renal insufficiency, Cardiomyopathy OMIM:105120
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Malabsorption, Abdominal pain,... ORPHA:85445
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Motor Neuropathy, Peripheral, With Dysautonomia
Achalasia, Orthostatic hypotension OMIM:252320
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal death, Lacticaciduria, Pulmonar... OMIM:619003
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Elevated circulating creatine kinase concentration, Vomiting, Dilated cardiomyopa... OMIM:600649
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Tetrasomy 18P
Achalasia, Syncope ORPHA:3307
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy OMIM:619903
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Nausea, Decreased ci... ORPHA:231580
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Feeding difficulties, Hypera... OMIM:609015
Wound Botulism
Urinary retention ORPHA:178475
Botulism
Urinary retention, Xerostomia ORPHA:1267
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Hyper... ORPHA:99901
Lujo Hemorrhagic Fever
Abdominal cramps, Odynophagia, Elevated circulating C-reactive protein concentration, Diarrhea, F... ORPHA:319213
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Triple A Syndrome
Adrenal insufficiency, Achalasia, Anterior hypopituitarism, Short stature ORPHA:869
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Cardiomyopathy, Dilated, 2E
Death in childhood, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Death in infa... OMIM:619492
Lassa Fever
Miscarriage, Abdominal pain, Diarrhea, Oliguria, Shock, Dysphagia, Nausea and vomiting ORPHA:99824
Autosomal Recessive Spastic Paraplegia Type 9B
Urinary retention, Pollakisuria, Skeletal muscle atrophy ORPHA:447760
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Ventricular septal defect, Anteriorly placed anus, Increased circulating free fatty aci... ORPHA:26793
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Death in childhood, Dicarboxylic aciduria, Dilated cardiomyopathy, Death in infa... OMIM:611126
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Duplicated collecting system, Hydronephrosis OMIM:617093
Foodborne Botulism
Urinary retention, Xerostomia ORPHA:228371
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Short stature, Anorexia, Pallor, Distal renal tubular acidosis, I... OMIM:611590
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Abdominal pain, Raynaud phenomenon, Abnorm... ORPHA:767
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Carnosinuria OMIM:309930
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Cleft Palate, Cardiac Defects, And Mental Retardation
Gastroesophageal reflux, Atrial septal defect, Feeding difficulties, Secundum atrial septal defec... OMIM:600987
Leprechaunism
Failure to thrive, Severe intrauterine growth retardation, Hyperinsulinemia, Hypokalemia, Abdomin... ORPHA:508
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Cere... ORPHA:276621
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death, Small for gestational age OMIM:300076
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Precocious puberty, Hypokalemia, Short stature, Decreased cir... ORPHA:90795
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Cleft palate, Hydronephrosis, Arthrogryposis multiplex congenita, Vesicour... OMIM:618265
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Decreased response to growth hormone stimulation test, Short stature ORPHA:436174
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... ORPHA:90793
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy ORPHA:2229
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Solitary Fibrous Tumor/Hemangiopericytoma
Urinary retention, Weight loss ORPHA:2126
Retinitis Pigmentosa 42
Pallor OMIM:612943
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Failure to thrive, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstruction,... ORPHA:79404
Adrenomyeloneuropathy
Urinary bladder sphincter dysfunction, Urinary urgency, Leg muscle stiffness, Urinary retention, ... ORPHA:139399
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Renal cortical adenoma, Nausea, Decreased circulating renin level, Epistaxis, Hypert... ORPHA:231632
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia, Recurrent urinary tract infections, Urinary incontinence OMIM:609033
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Lower limb muscle weakness, Increased intramyocellular lipid dr... ORPHA:79102
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Short stature OMIM:221350
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:252011
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Dk1-Cdg
Failure to thrive, Short stature, Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fib... ORPHA:91131
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Achalasia, Short stature, Death in early adulthood ORPHA:79107
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Short stature, Hyperg... ORPHA:280679
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Dystonia, Juvenile-Onset
Dysphagia, Achalasia, Pseudobulbar paralysis, Small for gestational age OMIM:607371
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Myopathy, Centronuclear, 5
Dilated cardiomyopathy OMIM:615959
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... ORPHA:1349
Bladder Diverticulum
Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he... OMIM:109820
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Diarrhea, Vomiting, Dry skin, Dilated cardiomyopathy, Death in infancy, Increa... OMIM:610768
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abd... ORPHA:567548
Immunodeficiency 70
Achalasia, Colitis, Celiac disease OMIM:618969
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Renal agenesis, Hypogonadotropic hypogonadism, Mitral ... ORPHA:2326
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Myopathy, Congenital, With Fiber-Type Disproportion
Dysphagia, Failure to thrive, Dilated cardiomyopathy, Feeding difficulties OMIM:255310
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Vomiting, Enlarged kidney, Elevated circulating creatinine concentration, Cardiomegaly,... OMIM:608836
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:617184
Retinitis Pigmentosa 81
Pallor OMIM:617871
Fanconi Anemia, Complementation Group O
Anal atresia, Small thenar eminence, Neonatal death, Renal cyst, Hydronephrosis, Rectal atresia, ... OMIM:613390
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Abdominal pain, Elevated circulating creatine kinase concentr... OMIM:615895
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Decreased body weight, Atrial septal defect, Decreased response ... OMIM:609053
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pallor, Tachycardia, Pancreatic islet-cell hyper... ORPHA:276608
Melas
Constipation, Diarrhea, Vomiting, Type I diabetes mellitus, Proteinuria, Proximal tubulopathy, In... ORPHA:550
Alstrom Syndrome
Hyperinsulinemia, Nephritis, Decreased response to growth hormone stimulation test, Short stature... OMIM:203800
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Urinary urgency, Hypotension, Urinary incontinence OMIM:156310
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Barth Syndrome
Failure to thrive, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic ... OMIM:302060
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hypocalcemia, Gastritis, Tachycardia, Hematuria, Vomiting, Hypotension... ORPHA:31826
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Hyperammonemia, Pallor, Death in childhood, Vomiting, Organic aciduria... OMIM:246450
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Proteinuria, Adrenal pheochromocytoma, Weight loss, Elevated urinary epinephrine, Cere... ORPHA:29072
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Patent ductus arteriosus, Dysphagia, Hypertrophic cardiomyopathy, Intraut... OMIM:616276
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor, Tachycardia, Increased total bilirubin, Congestive heart failure ORPHA:90037
Andersen-Tawil Syndrome
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... ORPHA:37553
Optic Atrophy 9
Pallor OMIM:616289
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ethylmalonic aciduria, Feedi... ORPHA:26792
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Gastroesophageal reflux, Feeding difficulties, Small intestinal dysmotility, D... OMIM:619482
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Short stature, Hypothyroidism, Type I diabetes mellitus, Delay... OMIM:615952
Myopathy, Congenital, Progressive, With Scoliosis
High palate, Hydronephrosis, Skeletal muscle atrophy, Renal atrophy, Congenital contracture, Faci... OMIM:618578
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depr... ORPHA:466650
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Erythema, Dilated cardiomyopathy, Pyoderma... OMIM:608068
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Bladder diverticulum, Cleft palate, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Absence... OMIM:604292
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon, Hydronephrosis OMIM:235760
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Congenital Disorder Of Glycosylation, Type It
Short stature, Sudden cardiac death, Elevated circulating creatine kinase concentration, Tachycar... OMIM:614921
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Gm1-Gangliosidosis, Type I
Severe short stature, Abnormality of the urinary system, Dilated cardiomyopathy, Death in infancy... OMIM:230500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Urinary retention, Failure to thrive in infancy ORPHA:79124
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Abnormal left ventricular function, Elevated circulating creatine kinase concentration, Dilated c... OMIM:607155
Intellectual Disability-Alacrima-Achalasia Syndrome
Dysphagia, Achalasia, Enuresis ORPHA:289483
Propionic Acidemia
Constipation, Hyperammonemia, Arrhythmia, Organic aciduria, Cardiomyopathy ORPHA:35
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia, Weight loss, Central hypothyroidism ORPHA:514
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Failure to thrive, Diarrhea, Vomiting, Hyperaldosteronism, ... OMIM:264350
Peripheral Cone Dystrophy
Pallor OMIM:609021
Benign Paroxysmal Torticollis Of Infancy
Pallor, Vomiting ORPHA:71518
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Cardiomyopathy, Renal insufficiency ORPHA:254857
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... OMIM:300952
Cockayne Syndrome Type 3
Flexion contracture, Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypoplasia,... ORPHA:90324
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Congestive heart failure, Short stature, Myocardial infarction, Dilated... OMIM:208000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Failure to thrive, Hepatic failure, Dilated cardiomyopathy, Esophageal ... ORPHA:367
Bohring-Opitz Syndrome
Cleft palate, Severe failure to thrive, Nephroblastoma, Urinary retention, Lower limb hypertonia,... ORPHA:97297
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Failure to thrive, Constipation, Intestinal atresia, Atri... ORPHA:2970
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Autoimmune Hemolytic Anemia
Abnormal urinary color, Abdominal pain, Pallor, Arrhythmia, Congestive heart failure ORPHA:98375
Leigh Syndrome With Cardiomyopathy
Decreased liver function, Failure to thrive, Renal tubular acidosis, Abnormal renal tubule morpho... ORPHA:70474
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Short stature, Hyperg... OMIM:300845
Dilated Cardiomyopathy With Ataxia
Intrauterine growth retardation, Hypoplasia of penis, Muscular ventricular septal defect, Elevate... ORPHA:66634
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Growth delay, Pallor, Hypogonadism OMIM:615234
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Wild Type Attr Amyloidosis
Nephrotic syndrome, Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunc... ORPHA:330001
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Short stature, Decreased circulating cortisol level, Ort... OMIM:231550
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Muscular Dystrophy, Becker Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:300376
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia, Hyperten... OMIM:618114
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... OMIM:202010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Heart murmur, Oliguria, Aortic regurgitation, Congestive heart failure ORPHA:1054
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Feeding difficulties, Polyuria, Hypere... OMIM:613845
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Mildly elevated creatine kinase ORPHA:59135
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Cone-Rod Dystrophy 11
Pallor OMIM:610381
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, 3-Methylglutaric aciduria, Hyperammonemia, Anorexia, Pallor, Diarrhea, Episodic vomiti... ORPHA:20
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Alg1-Cdg
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... ORPHA:79327
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Growth delay, Decreased body weight, Constipation, Gastroesophageal reflux, Fe... ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Death in childhood, Elevated circulating creatine kinase ... OMIM:610505
Li-Campeau Syndrome
Atrial septal defect, Micropenis, Short stature, Hypothyroidism, Ventricular septal defect, Paten... OMIM:619189
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98853
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Hypoplastic left heart, Short stature, Unilateral renal agenesis, Rhizome... OMIM:617661
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Erythema, Tachycardia, Syncope OMIM:615821
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Intrauterine growth retardation ORPHA:272
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, High-output congestive heart failure, Feeding difficul... ORPHA:231226
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... ORPHA:217607
Adult-Onset Autosomal Dominant Leukodystrophy
Urinary retention, Recurrent urinary tract infections, Urinary urgency, Flexion contracture ORPHA:99027
Beta-Thalassemia
Pallor, Hypogonadotropic hypogonadism, Abnormality of iron homeostasis, Skin ulcer, Hypertrophic ... ORPHA:848
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Myopathy, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Spontaneous Periodic Hypothermia
Pallor, Nausea and vomiting, Diarrhea, Arrhythmia ORPHA:29822
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Increased LDL cholesterol concentration, ... ORPHA:98855
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Arrhythmia, Dilated cardiomyopathy, Abnormal ... OMIM:310200
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Intracranial hemorrhage, Diarrhea, Tachycardia, ... ORPHA:449285
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Abnormality of the diaphragm, Ureteral atresia, Hydronephrosis OMIM:183802
Intellectual Developmental Disorder, Autosomal Dominant 54
Urinary retention, Small for gestational age OMIM:617799
Nephronophthisis 1
Growth delay, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitia... OMIM:256100
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis OMIM:617127
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Pallor, Heart murmur, Glomerulonephritis, Diffuse alveolar hemorrhage, Cardiom... ORPHA:99931
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Renal insufficiency, Hyperuricemia, Hypertension, Cardiomyopathy ORPHA:3222
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Supravalvular aortic stenosis, Cutis laxa, Lack of skin elastici... ORPHA:90349
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Sudden c... ORPHA:73224
Acute Transverse Myelitis
Urinary bladder sphincter dysfunction, Paralytic ileus, Urinary retention, Upper limb muscle weak... ORPHA:139417
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Melena, Bowel urgency, Bloody diar... ORPHA:100080
Primary Lateral Sclerosis, Juvenile
Dysphagia, Pallor OMIM:606353
Myoclonus, Intractable, Neonatal
Dysphagia, Pallor, Feeding difficulties OMIM:617235
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Polyuria, Diarrhea, Death in childhood, Vomiting, Death in adolescence, Type I... OMIM:560000
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Melena, Bowel urgency, Constipation, Hematochezia, Facial telangiectas... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Melena, Bowel urgency, Constipation, Hematochezia, Facial telangiectas... ORPHA:100082
Optic Atrophy 1
Pallor OMIM:165500
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Constipation, Gastroesophageal reflux, Hyperthyroidism, Left ventricular hyper... ORPHA:254892
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Gastroesophageal reflux, Aminoaciduria, Short stature, Arrhythmia, Ventricu... OMIM:249270
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Postnatal growth retardation, Small for gestational ... OMIM:613355
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... ORPHA:439232
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, 3-Methylglutaconic aciduria, Cardiomyopathy ORPHA:67048
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin, Tachycardia, Pallor ORPHA:90036
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Mitral regurgitation, Dilated cardiomyopathy OMIM:212112
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Failure to thrive, Atrial septal defect, P... OMIM:619343
Prune Belly Syndrome
Anal atresia, Hydroureter, Xerostomia, Aplasia of the abdominal wall musculature, Hydronephrosis,... OMIM:100100
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Feeding difficulties, Hyper... ORPHA:2394
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, High-output congestive heart failure, Feeding difficul... ORPHA:231214
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insuff... OMIM:611209
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... OMIM:617021
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Abnormal B... ORPHA:66529
Parkes Weber Syndrome
Nephrotic syndrome, Abnormality of the urinary system, Muscle hypertrophy of the lower extremitie... ORPHA:90307
Short Stature, Microcephaly, And Endocrine Dysfunction
Disproportionate short-limb short stature, Abnormal circulating lipid concentration, Unilateral r... OMIM:616541
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrat... OMIM:617713
Beta-Ketothiolase Deficiency
Ketonuria, Hyperammonemia, Anorexia, Pallor, Diarrhea, Vomiting, Hypotension, Hyperuricemia, Hype... ORPHA:134
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:612999
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Mild short stature, Vesicou... OMIM:601450
Familial Glucocorticoid Deficiency
Constipation, Decreased circulating cortisol level, Diarrhea, Vomiting, Decreased circulating deh... ORPHA:361
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Sheehan Syndrome
Constipation, Central adrenal insufficiency, Decreased circulating cortisol level, Orthostatic hy... ORPHA:91355
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Left ventricular noncompaction, Atrial standstill, Mo... ORPHA:1344
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Retinitis Pigmentosa 70
Pallor OMIM:615922
Neonatal Lupus Erythematosus
Hepatic failure, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardio... ORPHA:398124
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Xanthine nephrolithiasi... ORPHA:3467
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Hypotaurinemia, Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction OMIM:145350
Autosomal Recessive Polycystic Kidney Disease
Growth delay, Cholangiocarcinoma, Hepatoblastoma, Reduced renal corticomedullary differentiation,... ORPHA:731
Panhypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating prolactin co... ORPHA:95513
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Short stature, Urethral stricture, Esophageal stricture, Dilated cardiomyopath... OMIM:613989
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Diarrhea, Hyperphosphatemia, Vomiting OMIM:239350
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Abnormal heart morphology, Failure to thrive, Ketonuria, Subdural hemorrhage, Feeding difficultie... ORPHA:79282
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Al Amyloidosis
Renal interstitial amyloid deposits, Proteinuria, Postural hypotension with compensatory tachycar... ORPHA:85443
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Retinitis Pigmentosa 27
Pallor OMIM:613750
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight... ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight... ORPHA:100077
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur, Proteinuria, Postnatal growth retardation, Intrauterine growt... ORPHA:2728
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Endove Syndrome, Limb-Brain Type
Failure to thrive, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Hemoglobin D Disease
Pallor, Abdominal pain ORPHA:90039
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Melena, Bowel urgency, Hepatic failure, Facial telangiectasia, Weight ... ORPHA:100075
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Sudd... OMIM:201475
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Heart murmur, Ventricular se... ORPHA:860
Mcleod Syndrome
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Reduced haptoglobin l... OMIM:300842
Cold Agglutinin Disease
Abnormal urinary color, Nausea and vomiting, Diarrhea, Pallor ORPHA:56425
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... OMIM:248250
Camurati-Engelmann Disease
Slender build, Cachexia, Urinary retention, Facial palsy, Skeletal muscle atrophy ORPHA:1328
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Myopathy ORPHA:2571
Von Hippel-Lindau Disease
Abnormal left ventricular function, Abdominal pain, Elevated urinary catecholamines, Pallor, Palp... ORPHA:892
Beta-Thalassemia Intermedia
Hypoparathyroidism, Adrenal insufficiency, Decreased liver function, High-output congestive heart... ORPHA:231222
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Growth delay, Decreased response to growth hormone stimulation test, ... OMIM:616007
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Constipation, Elevated circulating parathyroid hormone level, Diarrh... ORPHA:653
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Death in childhood, Diarrhea, Episodic vomiting, Vomiting, Tachycar... OMIM:618321
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Failure to thrive, Pallor, Delayed puberty OMIM:600462
Vici Syndrome
Failure to thrive, Left ventricular hypertrophy, Penile hypospadias, Dilated cardiomyopathy, Abno... OMIM:242840
Leishmaniasis
Anorexia, Pallor, Hypoalbuminemia, Skin ulcer, Weight loss ORPHA:507
Esophageal Atresia
Tracheoesophageal fistula, Vomiting, Pyloric stenosis, Ventricular septal defect, Anorectal anoma... ORPHA:1199
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Feeding difficulties, Orthostatic hypotension, Esophageal stenosis, Dyspha... OMIM:615510
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Pallor ORPHA:75563
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Cleft palate, Renal agenesis, Renal hypoplasia, Anteriorly placed anus, Hydr... OMIM:618494
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Malabsorption, Small for gestational age, H... OMIM:557000
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Bardet-Biedl Syndrome 17
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Hypogonadism, Obesity, St... OMIM:615994
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter, Intestinal malrotation OMIM:249210
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Hepatic failure, Abnormal renal tubule morphology, Low plasma citrulline, Epis... ORPHA:255210
Bor Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Ureteropelvic junction obst... ORPHA:107
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Chronic kidney disease, Growth delay, Gastroesophageal ref... ORPHA:79408
Hereditary Folate Malabsorption
Failure to thrive, Gastroesophageal reflux, Anorexia, Pallor, Diarrhea, Recurrent urinary tract i... ORPHA:90045
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Failure to ... ORPHA:137675
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Short stature, Unilateral renal agenesis, Ventricular septal defect, Patent... OMIM:608406
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis, Congestive heart failure ORPHA:163596
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Breath-Holding Spells
Pallor OMIM:607578
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Diarrhea, Increased urinary glycerol, Vomiting, Tachycardia, Hyperuricemia, Reye syndrome... ORPHA:348
Imerslund-Gräsbeck Syndrome
Failure to thrive, Constipation, Pallor, Tachycardia, Vomiting, Proteinuria, Weight loss, Poor ap... ORPHA:35858
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Desmoid Tumor
Malabsorption, Abnormality of the upper urinary tract, Intestinal obstruction, Intestinal polypos... ORPHA:873
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Retinitis Pigmentosa 73
Pallor OMIM:616544
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Abdominal pain, Feeding difficulties, Hyperammonemia, Anorexia, Renal insuffic... ORPHA:79312
Primary Hyperoxaluria Type 3