Gene Summary

Name:
RB1-inducible coiled-coil 1
Synonyms:
Fip200,  Cc1,  LaXp180,  2900055E04Rik,  5930404L04Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal visceral yolk sac morphology Rb1cc1em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Rb1cc1em1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Rb1cc1em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Rb1cc1em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Rb1cc1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Rb1cc1em1(IMPC)Mbp HET E9.5 0.00
abnormal placenta vasculature Rb1cc1em1(IMPC)Mbp HET E15.5 0.00
abnormal heart morphology Rb1cc1em1(IMPC)Mbp HET E9.5 0.00
preweaning lethality, complete penetrance Rb1cc1em1(IMPC)Mbp HOM   Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Rb1cc1 mutations

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

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

The table below shows human diseases associated to Rb1cc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Breast Cancer
OMIM:114480

The table below shows human diseases predicted to be associated to Rb1cc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Endocardial Fibroelastosis
Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Macrovesicular hep... OMIM:618234
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Congestive heart ... OMIM:619048
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiomyopathy, Elevated hepatic transamina... OMIM:613313
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Azoospermia, Splenomegaly, Hepatome... OMIM:602390
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Congestive heart failure, Ascites, Bacterial endocarditis, Jaundice,... ORPHA:615
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Polyhydramnios, Pericardit... ORPHA:163596
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Butyrylcholinesterase Deficiency
Abnormal enzyme/coenzyme activity, Abnormality of the liver, Myocardial infarction, Congestive he... ORPHA:132
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Portal hypertension, Hepatosplenomegaly, Flexion contrac... ORPHA:367
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine... OMIM:212140
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Ascites, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:57777
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Azoospermia, Telangiectasia, Splenomegaly, He... OMIM:235200
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Atria... ORPHA:90308
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pleural... ORPHA:2414
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Nanophthalmos 4
Microphthalmia OMIM:615972
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tachycardia, Diffuse pa... ORPHA:276556
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Myocarditis, Periorbital edema,... ORPHA:3386
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tachycardia, Focal panc... ORPHA:276575
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Congestive heart failure, Atrial s... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failu... ORPHA:2041
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Congestive heart failure, Sudden cardia... OMIM:610198
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly ORPHA:46532
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tachycardia, Diffuse pa... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hepatic failure, Cerebral edema, Conges... OMIM:611126
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Increased variability in muscle fiber diameter, Abnormal Z disc morphol... OMIM:618654
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased liver functio... ORPHA:70472
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Arrhythmia, Congestive heart failure, H... ORPHA:1194
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Beta-Thalassemia
Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hepatitis, Pallor, Skin ... ORPHA:848
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Card... ORPHA:91131
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypertrophic cardio... OMIM:255160
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Increased circulating lactate dehydrogenase concentrat... ORPHA:99901
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Cardi... OMIM:253250
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Congestive heart failure, Azoospermia, Myocardial infarction, Oligospermia, Hy... OMIM:615703
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Pallor... ORPHA:49827
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Ragged-red muscle fiber... OMIM:540000
Barth Syndrome
Dilated cardiomyopathy, Skeletal myopathy, Arrhythmia, Endocardial fibroelastosis, Congestive hea... OMIM:302060
Sandhoff Disease
Splenomegaly, Hepatomegaly, Congestive heart failure ORPHA:796
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Polyhydramnios, Oligohydramnios, ... ORPHA:3032
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Cholestasis, Congestive heart failure, Arrhythmia, Hydrop... OMIM:609015
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Atrial fibrillation, Left atrial enlargement, Congestive heart failure OMIM:617047
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Congestive heart failure, Generalized amyotrophy, Increased variability in mus... ORPHA:52430
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Polymyositis
Dilated cardiomyopathy, Elevated aldolase level, Gastrointestinal hemorrhage, Arrhythmia, Congest... ORPHA:732
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Cuti... OMIM:314400
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Flexion contracture, Congestive heart failure, Azoospermia, Predominantly lower ... ORPHA:261519
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Polyhydramnios, Congestive heart failure OMIM:616794
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Desminopathy
Distal lower limb muscle weakness, Congestive heart failure, Sudden cardiac death, Atrioventricul... ORPHA:98909
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Portal hypertension, Cirrhosis, Arrhythmia, Congestive heart failure, Cholangiocarc... ORPHA:465508
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Primary Lipodystrophy
Hepatic steatosis, Congestive heart failure, Splenomegaly, Myopathy, Cardiomyopathy, Skeletal mus... ORPHA:90970
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Premature s... ORPHA:101028
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Decreased beta... OMIM:230500
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure OMIM:606703
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Mitral regurgitation, Cholestasis, Arrhythmia, Lower limb musc... ORPHA:746
Glycogen Storage Disease Iv
Hepatic failure, Hepatosplenomegaly, Portal hypertension, Skeletal muscle atrophy, Hydrops fetali... OMIM:232500
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure ORPHA:324588
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomeg... ORPHA:79083
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Congestive heart failure, Pleural eff... ORPHA:67
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Myopathy ORPHA:91130
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin, Congestive heart failure OMIM:301021
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Macroglossia, Ventricular septal defect, Mitral regurgitation, Cardi... ORPHA:363705
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomeg... ORPHA:2348
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Muscle fiber atrophy, Multiple join... ORPHA:324604
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Pallor, Cardiomegaly ORPHA:99931
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Pallor, Splenomegaly, Hepatomegaly OMIM:615234
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Edema of the dorsum of feet, P... ORPHA:275766
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Aorto-Ventricular Tunnel
Heart murmur, Abnormal heart valve morphology, Congestive heart failure, Ventricular hypertrophy ORPHA:3400
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Rhabdomyolysis, Increased circulating lactate dehydrogenase concentration, Ar... ORPHA:26791
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Congestive heart failure, Atrial septa... ORPHA:1880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Rheumatic Fever
Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, Endocarditis, Myoc... ORPHA:3099
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Nanophthalmos
Microphthalmia ORPHA:35612
Congenital Generalized Lipodystrophy
Hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglos... ORPHA:528
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Ragged-red muscle fibers, Hypertrophic cardiomy... ORPHA:1349
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Congestive heart failure, Skeletal muscle atrophy, Myopathy ORPHA:157973
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Pallor, Arrhythmia, High-output congestive heart fail... ORPHA:231226
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141179
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Short stature, Growth delay ORPHA:2528
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Increased hepatic glycogen content, Limb muscle weakness, Cardiomyopath... OMIM:619259
Neutral Lipid Storage Myopathy
Hepatic steatosis, Foot dorsiflexor weakness, Increased circulating lactate dehydrogenase concent... ORPHA:98908
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Ge... OMIM:616866
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Babesiosis
Hepatic failure, Congestive heart failure, Splenomegaly, Hepatomegaly, Jaundice, Myocardial infar... ORPHA:108
X-Linked Sideroblastic Anemia
Pallor, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Gastrointestinal hemorrhage, Periportal ... ORPHA:64743
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141184
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... ORPHA:308552
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Pallor, Arrhythmia, High-output congestive heart fail... ORPHA:231214
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Facial hypotonia, Congestive heart failure, Atrial septal defect, Polyhydramnios, Decreased muscl... ORPHA:500533
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cardiac Diverticulum
Tricuspid atresia, Diastasis recti, Premature ventricular contraction, Dextrocardia, Mitral steno... ORPHA:1686
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly, Palpitations, Syncope, Tachycardia ORPHA:324575
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Peripheral edema, Abnormal left ventricu... ORPHA:75249
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Cutis laxa, Restrictiv... OMIM:264800
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Hepatomegaly, Jaundice OMIM:613839
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, Cardiac arrest, Pallor, Lipid accumulation in hepatoc... ORPHA:20
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Wild Type Abeta2M Amyloidosis
Abnormal tendon morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Ab... ORPHA:85446
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Growth delay OMIM:278780
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Hepatic failure, Congestive heart failure, Elevated hepatic transaminase, Left ve... OMIM:619355
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Evans Syndrome
Bruising susceptibility, Petechiae, Pallor, Jaundice, Syncope, Epistaxis ORPHA:1959
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Coronary artery stenosis, Arrhythmia, Abnormality of the shoulder girdle muscu... ORPHA:565612
Retinitis Pigmentosa 42
Pallor OMIM:612943
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Splenomegaly, Hepatomegaly, Lymphedema, Prolonged bleeding time, Pallor,... ORPHA:3226
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Transient ischemic attack, Lymphedem... OMIM:301500
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Citrullinemia, Type Ii, Adult-Onset
Cerebral edema, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, E... OMIM:603471
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:615631
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Retinitis Pigmentosa 60
Pallor OMIM:613983
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Pallor, High-output congestive hear... ORPHA:231222
Simple Cryoglobulinemia
Viral hepatitis, Gastrointestinal hemorrhage, Congestive heart failure, Myocardial infarction, Ac... ORPHA:91139
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Patent ductus arteriosus, Congestive heart failure, Pulmonary ... ORPHA:1457
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Peritonitis, Erythema, Pancrea... ORPHA:727
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly, Frontal encephalocele OMIM:218670
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Leishmaniasis
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Pallor, Skin ulcer, Abnormal bleeding ORPHA:507
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Retinitis Pigmentosa 81
Pallor OMIM:617871
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Congestive heart failure, Decreased liver function, Hepatomegaly, Jaundi... OMIM:608779
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... ORPHA:90065
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia, Pancreatic islet-cell hyperplasia ORPHA:276608
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Optic Atrophy 9
Pallor OMIM:616289
Gm1 Gangliosidosis
Hepatosplenomegaly, Patent ductus arteriosus, Congestive heart failure, Decreased beta-galactosid... ORPHA:354
Alstrom Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Congestive heart failure, Hepatomegaly, Hypertension, ... OMIM:203800
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Petechiae, Hepatosplenomegaly, Portal ... ORPHA:824
Laubry-Pezzi Syndrome
Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Patent foramen ovale, Congestive... ORPHA:99094
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral regurgitation, Congestive heart failure, Abnormality of the intrahepatic bile duct, Intrac... ORPHA:363618
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Patent ductus arteriosus, Congestive heart failure, Atrial septal defect, Hy... OMIM:617303
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Primary Sclerosing Cholangitis
Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Palmar telangiectasia... ORPHA:171
Peripheral Cone Dystrophy
Pallor OMIM:609021
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Patent ductus arteriosus, Congestive h... ORPHA:980
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Gingival bleeding, Spl... ORPHA:33226
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Proximal upper limb muscle hypertrophy, Congestive heart failure, Muscle hyper... ORPHA:280365
Capillary Malformation-Arteriovenous Malformation
Chylothorax, High-output congestive heart failure, Congestive heart failure, Nonimmune hydrops fe... ORPHA:137667
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Portal fibrosis, Pancreatitis, Intracranial hemorrhage, Skeletal ... ORPHA:3260
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Splenomegaly, Hepatomegaly, Pallor, Abnormal bleeding ORPHA:75564
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Collagenoma, Familial Cutaneous
Congestive heart failure, Tricuspid regurgitation, Atrial fibrillation, Vasculitis, Cardiomyopath... OMIM:115250
Hyperinsulinism Due To Hnf4A Deficiency
Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hep... ORPHA:263455
Scimitar Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Tricuspid atresia, Atrial septal defect, Congestiv... ORPHA:185
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Growth delay OMIM:274270
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, Congestive heart ... ORPHA:183
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Mmep Syndrome
Microphthalmia ORPHA:3434
Fanconi Anemia, Complementation Group G
Microphthalmia, Growth delay OMIM:614082
Mucopolysaccharidosis, Type Ii
Hepatosplenomegaly, Abnormal heart valve morphology, Flexion contracture, Congestive heart failur... OMIM:309900
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Encephalocele OMIM:613885
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Septo-optic dysplasia, Arrhinencephaly ORPHA:1528
Scorpion Envenomation
Acute pancreatitis, Rhabdomyolysis, Increased circulating lactate dehydrogenase concentration, Pr... ORPHA:466677
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... OMIM:229300
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased liver fu... ORPHA:70474
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Splenomegaly, Jaundice, Pallor, Tachycardia ORPHA:90033
Cednik Syndrome
Congestive heart failure ORPHA:66631
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Optic Atrophy 1
Pallor OMIM:165500
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Gastrointestinal hemorrhage, Mucosal telang... ORPHA:774
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Myocardial steatosis, Neonatal death, Abnormal bleeding OMIM:228100
Geleophysic Dysplasia 1
Camptodactyly of finger, Congestive heart failure, Tricuspid stenosis, Hepatomegaly, Mitral steno... OMIM:231050
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Hepatosplenomegaly, Gastrointestinal hemorrhage, Congestive heart failure, Decreased l... ORPHA:85450
Von Hippel-Lindau Disease
Pallor, Pancreatic cysts, Abnormal left ventricular function, Arrhythmia, Myocarditis, Myocardial... ORPHA:892
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Hepatic calcification, Pe... ORPHA:73224
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Hartsfield Syndrome
Microphthalmia, Intrauterine growth retardation, Encephalocele ORPHA:2117
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Microphthalmia, Meningocele, Encephalocele OMIM:603194
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Splenomegaly, Hepatomegaly, Jaundice, Atrial fibrill... ORPHA:525731
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia OMIM:617914
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Splenomegaly, Congestive heart failure ORPHA:90037
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Arrhythmia, Congestive heart failure ORPHA:98375
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
2Q24 Microdeletion Syndrome
Microphthalmia, Growth delay ORPHA:1617
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Diastasis recti, Congestive heart failure, Hypertrophic cardiomyopathy, Spl... OMIM:252500
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Non-Functioning Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:94080
Sepsis In Premature Infants
Petechiae, Pallor, Purpura, Decreased liver function, Hepatomegaly, Jaundice, Splenomegaly, Hypot... ORPHA:90051
Triosephosphate Isomerase Deficiency
Cholelithiasis, Skeletal muscle atrophy, Congestive heart failure, Cholecystitis, Splenomegaly, J... OMIM:615512
Cold Agglutinin Disease
Pallor, Splenomegaly, Hepatomegaly ORPHA:56425
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, Premature ventricular contraction, High-output congestive heart failure,... ORPHA:423
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Growth delay, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Unil... ORPHA:137902
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Flexion contracture, Atrial s... ORPHA:505248
Mosaic Trisomy 9
Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosis, Atrial sep... ORPHA:99776
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele OMIM:164180
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Pulmonary insufficiency, Congestive heart failure, ... ORPHA:2326
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Retinitis Pigmentosa 70
Pallor OMIM:615922
Congenital Rubella Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Microphthalmia, Short stature, Aplasia... ORPHA:290
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase... ORPHA:348
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Post-partum hemorrhage, Melena, Elevated hepatic transam... ORPHA:98870
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Erythema, Decreased liver function, Cirrhosis, Edema ORPHA:79278
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Acute Myelomonocytic Leukemia
Pallor, Abnormal bleeding ORPHA:517
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Pancreatic cysts OMIM:616307
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Achilles tendon contracture, Contractures involving the joints... ORPHA:456312
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Abetalipoproteinemia
Distal lower limb muscle weakness, Hepatic steatosis, Congestive heart failure, Hepatomegaly, Myo... ORPHA:14
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Fanconi Anemia, Complementation Group I
Atrial septal defect, Pallor, Ventricular septal defect, Patent foramen ovale OMIM:609053
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Abnormal heart valve morphology, Congestive heart failure, Hypertroph... ORPHA:579
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Polyhydramnios, Ventricular septal defect, Arthr... OMIM:607598
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Beta-Ketothiolase Deficiency
Pallor, Hypotension, Hepatomegaly, Hypertension, Dehydration, Edema ORPHA:134
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Congestive heart failure, Dysplastic aortic valve, Atrial septal defect... OMIM:601808
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Rhabdomyolysis, Congestive heart failu... ORPHA:454836
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Chronic hepatitis, Portal inflammation, ... ORPHA:101330
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Tetralogy of Fallot, Patent ductus arteriosus, Aortopulmonary window, Atrial septal defect, Conge... ORPHA:99050
Erdheim-Chester Disease
Abnormal pericardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Pleu... ORPHA:35687
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis, Pallor OMIM:194380
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Fabry Disease
Abnormal myocardium morphology, Abnormal endocardium morphology, Mucosal telangiectasiae, Arrhyth... ORPHA:324
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Bilateral microphthalmos, Cervical spina bifida, Growth delay OMIM:600122
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Hepatomegaly OMIM:246450
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... ORPHA:220393
Congenital Toxoplasmosis
Microphthalmia, Intrauterine growth retardation ORPHA:858
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Microphthalmia OMIM:611561
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Bruising susceptibility, Muscle fiber atrophy, Congestive heart failure, Decreased muscle mass, E... ORPHA:1900
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Hypotension, Myocarditis, D... ORPHA:31824
Leigh Syndrome
Hepatic failure, Multiple joint contractures, Skeletal muscle atrophy, Congestive heart failure, ... ORPHA:506
Breath-Holding Spells
Pallor OMIM:607578
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Generalized limb muscle atrophy OMIM:600462
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure,... ORPHA:3342
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Azoospermia, Elevated hepatic iron concentration, Elevated hepatic transamina... ORPHA:300298
Retinitis Pigmentosa 73
Pallor OMIM:616544
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Myopathy, Cardiomyopathy, Left ventricular hype... OMIM:242840
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:2547
Aarskog-Scott Syndrome
Camptodactyly of finger, Congestive heart failure ORPHA:915
Hyperkalemic Periodic Paralysis
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Myopathy, Ske... ORPHA:682
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Weakness of the intrinsic hand muscles, Muscular subvalvular aortic stenosis, Decreased pyruvate ... OMIM:302900
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Congestive heart failure, Left-to-right shunt,... ORPHA:1600
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Growth delay, Intrauterine growth retardation OMIM:610756
Listeriosis
Hepatic granulomatosis, Pericarditis, Rhabdomyolysis, Congestive heart failure, Cholecystitis, Pe... ORPHA:533
Friedreich Ataxia And Congenital Glaucoma
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Congestive heart f... OMIM:229310
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Fumarase Deficiency
Pallor, Hepatic failure, Cholestasis OMIM:606812
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Microphthalmia, Intrauterine growth retardation OMIM:300863
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Atrial septal defect, Hypertrophic cardiomyopathy, Right bundle branch ... OMIM:617403
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Pallor, Hydrops fetalis, Macronodular cirrhos... OMIM:557000
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Congestive heart failure, Striae distensae, Pulmonic stenosis, Flexion ... OMIM:608328
Elliptocytosis 1
Pallor, Splenomegaly, Jaundice OMIM:611804
Seckel Syndrome 2
Microphthalmia, Short stature, Growth delay OMIM:606744
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Pierpont Syndrome
Microphthalmia, Short stature OMIM:602342
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Decreased pyruvate carboxylase activity, Congestive heart f... OMIM:601992
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Patent ductus arteriosus, Atrial septal def... OMIM:300967
Meckel Syndrome, Type 4
Intrauterine growth retardation, Anencephaly, Microphthalmia, Meningocele, Encephalocele OMIM:611134
Aceruloplasminemia
Congestive heart failure, Abnormal pancreas morphology, Abnormal enzyme/coenzyme activity, Elevat... ORPHA:48818
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Pallor, Facial hypotonia, Arrhythmia, Cardiac conduction abnormality, Cardiomyop... ORPHA:2131
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Pallor, Elevated hepatic transaminase, Hepatomegaly ORPHA:331206
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Bruising susceptibility, Splenomegaly, Hepatomegaly, Pulmona... ORPHA:667
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Tricuspid valve prolap... ORPHA:2346
Autosomal Recessive Cutis Laxa Type 1
Congestive heart failure, Supravalvular aortic stenosis, Dilatation of the ventricular cavity, Cu... ORPHA:90349
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Short stature, Mild short stature, Optic nerve hypoplasia OMIM:614833
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Heart murmur, Aplasia/Hypoplasia of th... ORPHA:3309
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Elevated total serum tryptase, Hypotension, Splenomegaly, Hepatomegaly, Syncope, Tachycardia ORPHA:98849
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature OMIM:612530
Ileal Neuroendocrine Tumor
Hepatic failure, Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Extrahepatic cho... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hepatic failure, Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Extrahepatic cho... ORPHA:100077
Pierpont Syndrome
Microphthalmia ORPHA:487825
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Dry skin, Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Ethylene Glycol Poisoning
Cerebral edema, Congestive heart failure, Hypotension, Atrial fibrillation, Hypertension, Prolong... ORPHA:31826
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Skeletal muscle atrophy, Erythema, Splenomegaly, Hepatomegaly, Edema OMIM:619183
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Jaundice OMIM:246400
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertensive crisis, Hypertension, Pancreatitis, Pallor, Edema, Generalized edema, P... ORPHA:544482
Bresek Syndrome
Microphthalmia, Growth delay, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:276621
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia OMIM:615113
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Skeletal muscle atrophy,... OMIM:256040
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Microphthalmia ORPHA:93267
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Anterior Segment Dysgenesis 7
Microphthalmia, Buphthalmos OMIM:269400
Frontonasal Dysplasia 1
Microphthalmia, Anterior basal encephalocele, Cranium bifidum occultum OMIM:136760
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Congestive heart failure ORPHA:137608
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Redundant skin, Congestive heart failure OMIM:616482
Duodenal Neuroendocrine Tumor
Hepatic failure, Arrhythmia, Intrahepatic cholestasis with episodic jaundice, Cardiogenic shock, ... ORPHA:100076
Myelofibrosis
Purpura, Pallor, Splenomegaly OMIM:254450
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anasarca, Congestive heart failure OMIM:260450
Trisomy 13
Anophthalmia, Intrauterine growth retardation, Patent ductus arteriosus, Microphthalmia, Aplasia/... ORPHA:3378
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Short stature, Microphthalmia OMIM:169550
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:163966
Osteogenesis Imperfecta, Type Ii
Nonimmune hydrops fetalis, Pulmonary insufficiency, Congestive heart failure OMIM:166210
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Pulmonary arterial hypertension, Transient ischemic attack, Hypertensio... ORPHA:1830
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure OMIM:208000
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation, Encephalocele ORPHA:228390
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Abnormal tendon morphology, Abnormal left ventricular function, Sudden cardiac... ORPHA:391665
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Growth delay, Patent ductus arteriosus ORPHA:77298
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Patent foramen ovale, Congestive heart failure, Pulmonary arterial hypertensi... ORPHA:391487
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Anterior Segment Dysgenesis 5
Microphthalmia, Rieger anomaly, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Joubert Syndrome 14
Microphthalmia, Growth delay, Encephalocele OMIM:614424
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Diamond-Blackfan Anemia 1
Congestive heart failure, Atrial septal defect, Tricuspid stenosis, Elevated red cell adenosine d... OMIM:105650
Lymphatic Malformation 6
Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Splenomegaly, Pleural effusion, Gen... OMIM:616843
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Degcags Syndrome
Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Cholestasis, Atrial septal de... OMIM:619488
Fanconi Anemia, Complementation Group D2
Bruising susceptibility, Anemic pallor, Patent ductus arteriosus, Abnormal heart morphology, Annu... OMIM:227646
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Prolonged neonatal jaundice, Splenomegaly OMIM:300908
Temtamy Syndrome
Microphthalmia ORPHA:1777
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Short stature, Microphthalmia, Patent ductus arteriosus OMIM:243310
Rare Circulatory System Disease
Intermittent claudication, Elbow flexion contracture, Pallor ORPHA:98028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Diaphanospondylodysostosis
Oligohydramnios, Abnormal liver lobulation, Increased nuchal translucency OMIM:608022
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Tachycardia ORPHA:90036
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Umbilical hernia, Lens coloboma OMIM:618914
Dravet Syndrome
Pallor ORPHA:33069
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Pallor, Congestive heart failure, Hypertension associated with pheochromocytom... ORPHA:29072
Myopathy, Mitochondrial, And Ataxia
Pallor, Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent ductus arteriosus OMIM:618652
Refractory Anemia With Excess Blasts
Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations, Abnormal bleeding ORPHA:86839
Tsh-Secreting Pituitary Adenoma
Pallor, Congestive heart failure, Hypotension, Ventricular arrhythmia, Hypertension, Palpitations... ORPHA:91347
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia, Arrhinencephaly ORPHA:2189
Autosomal Dominant Cutis Laxa