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Gene: Rb1cc1 MGI:1341850

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

112 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Gross Morphology Embryo E9.5

Images

12 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

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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, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... OMIM:613172
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Elevated circulatin... OMIM:619048
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,... ORPHA:615
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Arr... OMIM:602390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca... OMIM:608099
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Cirrhotic Cardiomyopathy
Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent... ORPHA:57777
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, ... OMIM:613561
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Polyhydramnios, Hydrops fetalis, Pericarditis, Splenomega... ORPHA:163596
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating... ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Wolff-Parkinson-White s... OMIM:618234
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitin... OMIM:212140
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Hereditary Butyrylcholinesterase Deficiency
Abnormality of the liver, Congestive heart failure, Myocardial infarction, Abnormal circulating e... ORPHA:132
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Arrhythmia, Splenomegaly, Pe... ORPHA:3386
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn... ORPHA:276556
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor... ORPHA:90308
3-Methylglutaconic Aciduria, Type V
Atrial septal defect, Congestive heart failure, Prolonged QT interval, Microvesicular hepatic ste... OMIM:610198
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Foc... ORPHA:276575
Acute Peripheral Arterial Occlusion
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle w... ORPHA:90064
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert... OMIM:611705
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon... ORPHA:422
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hypertrophic cardiomyopathy, Syn... ORPHA:276580
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Muscle fiber hyaline bodies, Type 1 muscle fiber predominance, Fourth h... OMIM:255160
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Beta-Thalassemia
Hepatomegaly, Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Pallor, Hepa... ORPHA:848
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Wild Type Attr Amyloidosis
Pulmonary edema, Congestive heart failure, Hepatomegaly, Myocardial infarction, Bradycardia, Atri... ORPHA:330001
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Abnormal circulating enzyme concentration or ... ORPHA:70472
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Dk1-Cdg
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Abnormal circu... ORPHA:91131
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hepatomegaly, Abnormal aortic valve morphology, Hypertrophic cardiomyop... ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular... OMIM:611126
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Severely reduced left ventricular ejection fraction, Elevated circulati... OMIM:620609
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Pallor, Paroxysmal atrial tachycardia, Atrial septal de... ORPHA:49827
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Elevated circulating... ORPHA:99901
Sandhoff Disease
Congestive heart failure, Hepatomegaly, Splenomegaly ORPHA:796
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Pericardial constriction, Myoca... OMIM:253250
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Oligohyd... ORPHA:3032
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Elevated circulating hepatic transaminase concentratio... OMIM:609015
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Hypertension, Oligozoospermia, Hepatic steatosis, Myocardi... OMIM:615703
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... ORPHA:732
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Dilated cardiomyopathy, Congestive heart failure, Limb hypertonia ORPHA:324588
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Premature skin wrinkling, Hepatosplenomegaly, Edema, Atrial septal de... ORPHA:101028
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure, Polyhydramnios OMIM:616794
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Predominantly lower limb lymphedema, Azoospermia, Camptodactyly of fing... ORPHA:261519
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Elevated circulating alkaline phosphatase concentration, Rimmed vacuole... ORPHA:52430
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul... ORPHA:465508
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage, Pallor ORPHA:99931
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Abnormal heart valve morphology, Hypertr... OMIM:230500
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Glycogen Storage Disease Iv
Cirrhosis, Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hyperten... OMIM:232500
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure, Redundant skin, Neonatal death OMIM:301021
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle f... ORPHA:79083
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Cardiomyopathy, Chronic hepatic failure, Cholestasis, Lower limb muscle... ORPHA:746
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Ventricular hypertrophy, Congestive heart failure, Heart murmur ORPHA:3400
Classic Multiminicore Myopathy
Muscular dystrophy, Congestive heart failure, Weakness of facial musculature, Generalized amyotro... ORPHA:324604
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Cholelithiasis, Hypertrophic cardiomyopathy, Cerebral edema, Severely r... OMIM:620646
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Liver abscess, Elevated circulating hepatic transaminase concentration,... ORPHA:67
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di... ORPHA:1349
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic tr... ORPHA:26791
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Dilated cardiomyopathy, Congestive heart failure, Limb hypertonia OMIM:606703
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Cutis laxa, Aortic valve stenosis, Lower eyelid edema, Bicuspid aort... ORPHA:363705
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v... ORPHA:3099
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Skin ulcer, Hypoplasia of the musculature, Hepatocellular carcinoma, Chronic... ORPHA:231226
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, ... ORPHA:2348
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Abnormal bleeding, Jaundice, Elevated circulating hepatic transaminase... OMIM:208085
Nanophthalmos 4
Microphthalmia OMIM:615972
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas... OMIM:261740
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Alpha-Thalassemia
Congestive heart failure, Jaundice, Hydrops fetalis, Cholelithiasis, Pleural effusion, Generalize... ORPHA:846
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Palpitations, Pulmonary arterial hy... ORPHA:275766
Neutral Lipid Storage Myopathy
Congestive heart failure, Generalized limb muscle atrophy, Hepatomegaly, Chronic pancreatitis, El... ORPHA:98908
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja... ORPHA:64743
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf muscle hypertro... OMIM:310200
X-Linked Sideroblastic Anemia
Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Pallor ORPHA:822
Babesiosis
Congestive heart failure, Hepatomegaly, Jaundice, Splenomegaly, Myocardial infarction, Hepatic fa... ORPHA:108
Congenital Generalized Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Skeletal muscle hypertrophy, Hypertrophic card... ORPHA:528
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Flexion contracture, Skeletal muscle atrophy, Arrhythmia, Myopathy ORPHA:157973
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Hepatomegaly, Atrial fibrillation, Supraventricular arr... ORPHA:75249
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Atrial septal ... ORPHA:500533
Refsum Disease, Classic
Congestive heart failure, Reduced phytanic acid oxidase activity in cultured fibroblasts, Cardiom... OMIM:266500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Congestive heart failure, Palmoplantar erythema, Cardiomyocyte hypertr... OMIM:605676
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Stillbirth, Pulmonary arterial hypertension, Camptodactyly, Neonatal death OMIM:619751
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Scapular winging, EMG: myopathic abnormalities, ... ORPHA:206569
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Beta-Thalassemia Major
Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Hypoplasia of the musculature, Hepatocellular carc... ORPHA:231214
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Increased hepatic glycogen content, Cardiomyopathy, Limb muscle weaknes... OMIM:619259
Evans Syndrome
Jaundice, Petechiae, Epistaxis, Syncope, Bruising susceptibility, Pallor ORPHA:1959
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:615895
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transaminase concentration, He... ORPHA:20
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Fabry Disease
Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Lymphede... OMIM:301500
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Lymphedema, Splenomegaly, Intracranial hemorrhage, Bruising susceptibility, Prolong... ORPHA:3226
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Cerebral edema... OMIM:619355
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Cholelithiasis, Hepatoce... ORPHA:231222
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopath... OMIM:264800
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Angina pectori... ORPHA:565612
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... ORPHA:444013
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial f... ORPHA:137675
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Jaundice, Splenomegaly, Hepatomegaly OMIM:615631
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm... ORPHA:85446
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Skin ul... ORPHA:507
Primary Myelofibrosis
Purpura, Hepatomegaly, Abnormal bleeding, Petechiae, Portal hypertension, Increased circulating l... ORPHA:824
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Skin ulcer, Pancreatitis, Vasculitis, Peri... ORPHA:727
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Nonimmune hydrops... OMIM:266200
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Hep... OMIM:608779
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic... ORPHA:3260
Seckel Syndrome 10
Congestive heart failure, Ventricular hypertrophy, Acute pancreatitis, Hypertension, Elevated cir... OMIM:617253
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Waldenström Macroglobulinemia
Congestive heart failure, Purpura, Hepatomegaly, Gastrointestinal hemorrhage, Vasculitis, Pleural... ORPHA:33226
Simple Cryoglobulinemia
Congestive heart failure, Purpura, Gastrointestinal hemorrhage, Acral ulceration, Vasculitis, Hyp... ORPHA:91139
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Abnormal bleeding, Hepatomegaly, Splenomegaly, Pallor ORPHA:75564
Peripheral Cone Dystrophy
Pallor OMIM:609021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cardiogenic Shock
Congestive heart failure, Hepatomegaly, Abnormal left ventricular function, Low-output congestive... ORPHA:97292
Barth Syndrome
Congestive heart failure, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Abnormal mitochon... OMIM:302060
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hepatomegaly, Abnormal heart valve morphology, Decreased iduronate sulf... OMIM:309900
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Patent ductus arteriosus, Cardiomyopathy, Decreased be... ORPHA:354
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial flutter, Congestive heart failure, Red... ORPHA:980
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Congestive heart failure, Tricuspid atresia, Partial anomalous... ORPHA:185
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Spider heman... ORPHA:171
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:195
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormality of the musculature of the limbs, Abnormal bleeding, Chyloth... ORPHA:137667
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Fumarase Deficiency
Decreased fumarate hydratase activity, Perimembranous ventricular septal defect, Intrahepatic cho... OMIM:606812
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased circulating lactate dehydrogenase concentration, Pallor, Jaundice, Hepatomegaly OMIM:613839
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1466
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Premature skin wrinkling, Ventricular hypertrophy, Hypertension, Mitral... ORPHA:363618
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyop... OMIM:617303
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... ORPHA:263455
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Pancreatitis, Skele... ORPHA:280365
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Purpura, Myositis, Vasculitis, Hypertension, Transient isc... ORPHA:183
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Neoplasm of the pancreas, Abnormal left ventricul... ORPHA:892
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Jaundice, Splenomegaly, Tachycardia, Pallor ORPHA:90033
Scorpion Envenomation
Myocarditis, Pulmonary edema, Purpura, Congestive heart failure, Tachycardia, Prominent U wave, H... ORPHA:466677
Cednik Syndrome
Congestive heart failure ORPHA:66631
Mmep Syndrome
Microphthalmia ORPHA:3434
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor, Splenomegaly ORPHA:90037
Avian Influenza
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Pleural effusi... ORPHA:454836
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Congestive heart failure, Purpura, Hepatomegaly, Gastrointestinal hemor... ORPHA:85450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Azoospermia, Elevated hepatic iron concentration, Splenomegaly, Pallor OMIM:615234
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Abnormal bleeding, Bradycardia, Petech... ORPHA:90051
Pediatric-Onset Graves Disease
Congestive heart failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... ORPHA:525731
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Friedreich Ataxia
Congestive heart failure, Decreased pyruvate carboxylase activity, Abnormal EKG, Hypertrophic car... OMIM:229300
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Hepatic ... ORPHA:73224
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Syncope, Right bundle branch b... ORPHA:70591
Triosephosphate Isomerase Deficiency
Congestive heart failure, Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Sk... OMIM:615512
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Aortic regurgitation, Diastasis recti, Flexion contracture, Right ventr... ORPHA:423461
Kawasaki Disease
Myocarditis, Congestive heart failure, Jaundice, Abnormal heart valve morphology, Vasculitis, Dou... ORPHA:2331
Familial Idiopathic Dilatation Of The Right Atrium
Peripheral edema, Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection... ORPHA:1677
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyocyte mitochondrial proliferation, ... ORPHA:423
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Hepatomegaly, Dehydration, Cardiac arrest... OMIM:246450
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Congestive heart failure, Abnormal bleeding, Polyhydramnios, Dehydrat... OMIM:616271
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Melena, Post-partum hemorrhage, Gingival... ORPHA:98870
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Acute Myelomonocytic Leukemia
Pallor, Abnormal bleeding ORPHA:517
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:617156
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonary arterial h... ORPHA:505248
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Abnormal liver lobulation, Dextrocardia, Abnormal heart valve mo... ORPHA:99776
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypertension, Dehydration, Hypotension, Edema, Pallor ORPHA:134
Optic Atrophy 1
Pallor OMIM:165500
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym... ORPHA:348
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out... ORPHA:2326
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
Congenital Rubella Syndrome
Microphthalmia, Short stature, Patent ductus arteriosus, Intrauterine growth retardation, Aplasia... ORPHA:290
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Fanconi Anemia, Complementation Group I
Atrial septal defect, Pallor, Ventricular septal defect, Patent foramen ovale OMIM:609053
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Myelofibrosis
Purpura, Hepatomegaly, Splenomegaly, Pallor OMIM:254450
Mucopolysaccharidosis Type 1
Congestive heart failure, Abnormal aortic valve morphology, Abnormal tendon morphology, Abnormal ... ORPHA:579
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor OMIM:616307
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis OMIM:194380
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction OMIM:208000
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Abetalipoproteinemia
Prolonged prothrombin time, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulati... ORPHA:14
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scaling skin, Elevated circulating hepatic transaminase concentrati... ORPHA:101330
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia OMIM:613885
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Erdheim-Chester Disease
Congestive heart failure, Abnormal aortic valve morphology, Pleural effusion, Abnormal pericardiu... ORPHA:35687
Geleophysic Dysplasia 1
Congestive heart failure, Hepatomegaly, Tricuspid stenosis, Wrist flexion contracture, Pulmonary ... OMIM:231050
Congenital Tricuspid Stenosis
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... ORPHA:95459
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Transposition of the great arteries, Left ventricular outflow tract obs... ORPHA:99050
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Dysplastic pulmonary valve, Absence of the pulmonary valve, Dysplastic ... OMIM:601808
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph... OMIM:619705
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi... ORPHA:324
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Breath-Holding Spells
Pallor OMIM:607578
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pul... ORPHA:1600
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Palpebral edema, Hepatomegaly, Aortic regurgitation, Diastasis recti, H... OMIM:252500
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Skin ulcer, Hypertensive crisis, Pulmonary arterial hypertension, Flexi... ORPHA:220393
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Azoospermia, Elevated hepatic iron conce... ORPHA:300298
Leigh Syndrome
Congestive heart failure, Decreased circulating biotinidase concentration, Multiple joint contrac... ORPHA:506
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Scapular winging OMIM:600462
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Abnormal bleeding, Abnormal circulating enzyme concentration or activit... ORPHA:1900
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Redundant skin, Hypertension, Cardiac arrest, Hypertrophic... ORPHA:3342
Hyperkalemic Periodic Paralysis
Congestive heart failure, Skeletal muscle hypertrophy, Flexion contracture, Skeletal muscle atrop... ORPHA:682
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrops fetalis, Dehydrati... OMIM:557000
Alstrom Syndrome
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:203800
Alternating Hemiplegia Of Childhood
Facial hypotonia, Dehydration, Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Pallor... ORPHA:2131
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:2547
Colchicine Poisoning
Myocarditis, Congestive heart failure, Dehydration, Hypotension, Hypovolemia, Cardiogenic shock, ... ORPHA:31824
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Aortic regurgitation, Redundant skin, Cutis laxa, Ventricular septal de... OMIM:123700
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Listeriosis
Myocarditis, Congestive heart failure, Jaundice, Liver abscess, Arteritis, Splenic abscess, Peric... ORPHA:533
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly ORPHA:331206
Aarskog-Scott Syndrome
Camptodactyly of finger, Congestive heart failure ORPHA:915
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:611134
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature OMIM:300863
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosi... OMIM:608328
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Aceruloplasminemia
Congestive heart failure, Abnormal pancreas morphology, Torticollis, Abnormal circulating enzyme ... ORPHA:48818
Carney Complex, Type 1
Congestive heart failure, Cardiac myxoma OMIM:160980
Tetrasomy 5P
Congestive heart failure, Redundant neck skin, Aplasia/Hypoplasia of the abdominal wall musculatu... ORPHA:3309
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Pierpont Syndrome
Microphthalmia ORPHA:487825
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pulmonary arterial hypertension, Splenomegaly, Bruising susceptibility, Pallor, Abn... ORPHA:667
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Elevated total serum tryptase, Hypotension, Splenomegaly, Syncope, Pallor ORPHA:98849
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Letterer-Siwe Disease
Pallor, Jaundice, Hepatosplenomegaly OMIM:246400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Congestive heart failure, Dry skin, Tricuspid regurgitation ORPHA:508542
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Pleural empyema, Hypertension, Hypertensive crisis, Generalized edema,... ORPHA:544482
Werner Syndrome
Congestive heart failure, Skin ulcer, Hypertension, Lack of skin elasticity, Telangiectasia of th... ORPHA:902
Autosomal Recessive Cutis Laxa Type 1
Congestive heart failure, Abnormal cardiac ventricular function, Redundant skin, Cutis laxa, Dila... ORPHA:90349
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Flexion contracture, Splenomegaly, Skeletal muscle atrophy, Edema, Erythema OMIM:619183
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventric... OMIM:612863
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Hepatomegaly... OMIM:277400
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Redundant skin, Right bundle branch block, Hypertrophic cardiomyopathy,... OMIM:617403
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Growth delay ORPHA:85284
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Seckel Syndrome 2
Short stature, Microphthalmia, Growth delay OMIM:606744
Dravet Syndrome
Pallor ORPHA:33069
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Pancreatic insufficiency, combined exocrine
Anasarca, Exocrine pancreatic insufficiency, Congestive heart failure OMIM:260450
Retinitis Pigmentosa 51
Pallor OMIM:613464
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Ethylene Glycol Poisoning
Pulmonary edema, Renal tubular epithelial necrosis, Congestive heart failure, Prolonged QT interv... ORPHA:31826
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Tricuspid stenosis, Hypotension, Pulmoni... ORPHA:100078
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Pelvis-Shoulder Dysplasia
Short stature, Microphthalmia, Spina bifida occulta OMIM:169550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema, Cerebral edema ORPHA:439218
Generalized Pustular Psoriasis
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Pedal edema ORPHA:247353
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Pallor, Jaundice, Splenomegaly OMIM:300908
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature ORPHA:163966
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:256040
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Pancreatitis, Hypertension, Transient ischemic attack,... ORPHA:1830
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Nasal mucosa telangiec... ORPHA:774
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Trisomy 13
Microphthalmia, Anophthalmia, Patent ductus arteriosus, Intrauterine growth retardation, Aplasia/... ORPHA:3378
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure, Excessive wrinkled skin ORPHA:137608
Spondylo-Ocular Syndrome
Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ... ORPHA:85194
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Pancreatitis, Vitreous hemorrhage, Limb hypertonia, Splenic cyst, Patent foramen... OMIM:620371
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Patent ductus arteriosus, Anophthalmia ORPHA:77298
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Degcags Syndrome
Atrial septal defect, Hepatomegaly, Polyhydramnios, Dysplastic pulmonary valve, Patent foramen ov... OMIM:619488
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Renovascular hyp... ORPHA:391487
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent ductus arteriosus OMIM:618652
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemic pallor, Abnormal heart morphology, Patent ductus arteriosus, Bruising su... OMIM:227646
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Vici Syndrome
Congestive heart failure, Cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Dil... OMIM:242840
Refractory Anemia With Excess Blasts
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Palpitations, Pedal edema ORPHA:86839
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Pallor, Distal amyotrophy OMIM:617675
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Redundant skin, Pulmonary arterial hypertension, Neonatal death, Palmop... OMIM:616482
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Alg9-Cdg
Atrial septal defect, Hepatomegaly, Hydrops fetalis, Torticollis, Periportal fibrosis, Abnormal l... ORPHA:79328
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ascites, Biliar... OMIM:619991
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Baraitser-Winter Syndrome 1
Short stature, Microphthalmia, Postnatal growth retardation, Patent ductus arteriosus OMIM:243310
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Graves Disease
Congestive heart failure OMIM:275000
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Tricuspid stenosis, Pal... OMIM:105650
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:600901
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Elevated red cell adenosine deaminase activity, Pallor, Abnor... ORPHA:124
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Diaphanospondylodysostosis
Oligohydramnios, Abnormal liver lobulation, Increased nuchal translucency OMIM:608022
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
Friedreich Ataxia 2
Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hypertrophic cardio... OMIM:601992
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:227650
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Congestive heart failure, Myocardial infarction OMIM:176670
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia ORPHA:2189
Autosomal Dominant Cutis Laxa
Congestive heart failure, Redundant neck skin, Premature skin wrinkling, Aortic regurgitation, Re... ORPHA:90348
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Hypertensive crisis, Pallor, Proximal amyotrophy, ... ORPHA:653
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:494344
Esophageal Atresia
Polyhydramnios, Pallor, Ventricular septal defect, Tetralogy of Fallot ORPHA:1199
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... ORPHA:391665
Marfan Syndrome
Congestive heart failure, Tricuspid valve prolapse, Mitral annular calcification, Aortic regurgit... OMIM:154700
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Palpebral edema, Cardiac myxoma, Hypertension, Dry skin, Supraventricul... OMIM:181270
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Incontinentia Pigmenti
Congestive heart failure, Skin ulcer, Cerebral ischemia, Retinal hemorrhage, Pulmonary arterial h... ORPHA:464
Atypical Werner Syndrome
Congestive heart failure, Skin ulcer, Calf muscle hypertrophy, Hypertension, Abnormality of the A... ORPHA:79474
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1915
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Joubert Syndrome 37
Short stature, Microphthalmia OMIM:619185
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Encephalocele ORPHA:1791
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616395
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Umbilical hernia ORPHA:2505
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Anophthalmia OMIM:147250
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Microphthalmia/Coloboma 12
Growth delay, Microphthalmia, Optic nerve aplasia OMIM:120200
Williams Syndrome
Redundant skin, Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardio... ORPHA:904
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Anemic pallor, Ventricular septal defect, Flexion contracture OMIM:227645
Monosomy 18P
Short stature, Microphthalmia ORPHA:1598
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Abnormal heart m... ORPHA:444077
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Congestive heart failure, Palpebral edema, Jaundice, Elevated circulating hepatic transaminase co... OMIM:619475
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Garg-Mishra Progeroid Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:620601
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation ORPHA:2728
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Gracile Bone Dysplasia
Short stature, Microphthalmia, Aniridia OMIM:602361
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor, Abnormal bleeding ORPHA:35858
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia, Patent ductus arteriosus OMIM:244300
Joubert Syndrome 14
Growth delay, Microphthalmia, Encephalocele, Meningocele OMIM:614424
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemic pallor, Hematochezia, Abnormal bleeding ORPHA:329971
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Warburg Micro Syndrome 4
Short stature, Microphthalmia, Severe postnatal growth retardation OMIM:615663
African Trypanosomiasis
Myocarditis, Congestive heart failure, Jaundice, Hepatomegaly, Pericarditis, Hepatosplenomegaly, ... ORPHA:3385
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:248700
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Dry skin, Palpitations, Pallor ORPHA:91355
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Marfan Syndrome
Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Aortic re... ORPHA:558
Micro Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:2510
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Kapur-Toriello Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:2328
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Heart block, Chylot... ORPHA:797
Temtamy Syndrome
Microphthalmia OMIM:218340
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia, Short stature, Patent ductus arteriosus OMIM:603467
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... OMIM:187300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Aregenerative Anemia
Bruising susceptibility, Pallor, Abnormal bleeding ORPHA:101096
Retinitis Pigmentosa 75
Pallor OMIM:617023
Tay-Sachs Disease
Pallor OMIM:272800
Carney Complex
Congestive heart failure, Neoplasm of the pancreas, Hypertension, Hepatocellular carcinoma, Cardi... ORPHA:1359
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Moebius Syndrome
Microphthalmia OMIM:157900
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Parkes Weber Syndrome
Scaling skin, Abnormal bleeding, Skin ulcer, High-output congestive heart failure, Muscle hypertr... ORPHA:90307
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia OMIM:616920
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171300
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Bradycardia, Pulmonary arterial hyperte... OMIM:614437
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Neuroblastoma
Increased circulating lactate dehydrogenase concentration, Anemic pallor, Hypertension, Abnormal ... ORPHA:635
3P25.3 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:435638
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele, Short stature, Patent ductus arteriosus OMIM:619148
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Dry skin, Arrhythmia ORPHA:428
Prolactinoma
Pallor, Hypotension ORPHA:2965
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Microphthalmia ORPHA:1806
Vacterl With Hydrocephalus
Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida ORPHA:3412
Singleton-Merten Syndrome 1
Congestive heart failure, Pleural effusion, Mitral valve calcification, Aortic valve stenosis, Te... OMIM:182250
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Encephalocele OMIM:613451
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Childhood Absence Epilepsy
Pallor ORPHA:64280
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature... OMIM:206900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Gastrointestinal hemorrhage, Excessive wrinkled skin, Bruising suscepti... OMIM:225400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Oculofaciocardiodental Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:2712
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Patent ductus arteriosus ORPHA:250989
Incontinentia Pigmenti
Retinal hemorrhage, Pallor, Erythema OMIM:308300
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:2714
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Microphthalmia, Severe postnatal growth retardation ORPHA:35173
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Hallermann-Streiff Syndrome
Congestive heart failure, Abdominal situs inversus ORPHA:2108
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia OMIM:618571
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydranencephaly, Neonatal short-trunk short stature, Mesomelic/rhizomel... ORPHA:2839
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Truncus arteriosus, Short stature, Severe short stature, ... OMIM:601186
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Cat Eye Syndrome
Short stature, Microphthalmia, Patent ductus arteriosus, Umbilical hernia OMIM:115470
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Adams-Oliver Syndrome
Microphthalmia, Encephalocele ORPHA:974
Refsum Disease
Microphthalmia ORPHA:773
Cohen Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:193
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:617729
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Trisomy 18
Microphthalmia, Anencephaly, Spina bifida, Short stature, Growth delay, Intrauterine growth retar... ORPHA:3380
Phace Association
Optic nerve hypoplasia, Microphthalmia, Patent ductus arteriosus OMIM:606519
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Xeroderma Pigmentosum, Complementation Group B
Short stature, Microphthalmia OMIM:610651
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia, Patent ductus arteriosus ORPHA:2092
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Rhizomelia OMIM:302960
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, An... ORPHA:79318
Alström Syndrome
Congestive heart failure, Cirrhosis, Hepatomegaly, Abnormal liver physiology, Elevated circulatin... ORPHA:64
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Microphthalmia OMIM:257850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia OMIM:615877
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Microphthalmia, Short stature, Hypoplasia of the iris OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele OMIM:253800
3Q29 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia, Encephalocele OMIM:614643
Microphthalmia, Lenz Type
Short stature, Microphthalmia ORPHA:568
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Joubert Syndrome 2
Microphthalmia, Encephalocele OMIM:608091
Trichothiodystrophy 1, Photosensitive
Short stature, Microphthalmia OMIM:601675
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Rhizomelia, Encephalocele, Patent ductus arteriosus OMIM:616300
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele OMIM:264480
Cousin Syndrome
Disproportionate short stature, Microphthalmia, Rhizomelia, Hydranencephaly OMIM:260660
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia OMIM:619879
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Microphthalmia OMIM:610832
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Pallister-Hall Syndrome
Microphthalmia, Short stature, Growth delay, Patent ductus arteriosus, Intrauterine growth retard... OMIM:146510
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos OMIM:236670
Dubowitz Syndrome
Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Short stature, Intrauterine... OMIM:223370
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short stature, Microphthalmia, Postnatal growth retardation, Rhizomelia OMIM:608940
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta OMIM:607323
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Microphthalmia, Severe short stature ORPHA:85167
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Lymphedema-Distichiasis Syndrome
Microphthalmia, Patent ductus arteriosus OMIM:153400
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida, Proportionate short stature OMIM:234100
Papillorenal Syndrome
Short stature, Microphthalmia OMIM:120330
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Microphthalmia, Severe postnatal growth retardation, Patent duct... OMIM:620005
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:614083
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Umbilical hernia ORPHA:2166
Atelis Syndrome 2
Microphthalmia, Patent ductus arteriosus OMIM:620185
Jacobsen Syndrome
Intrauterine growth retardation, Microphthalmia, Macular hypoplasia OMIM:147791
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Truncus arteriosus, Anophthalmia ORPHA:2538
Momo Syndrome
Short stature, Bilateral microphthalmos ORPHA:2563
2Q31.1 Microdeletion Syndrome
Short stature, Microphthalmia ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Holoprosencephaly
Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism ORPHA:2162
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia, Short stature, Patent ductus arteriosus OMIM:616975
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Truncus arteriosus, Spina bifida, Short stature ORPHA:508498
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Growth delay ORPHA:1052
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Fanconi Anemia
Microphthalmia, Patent ductus arteriosus, Spina bifida, Growth delay, Short stature, Umbilical he... ORPHA:84
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Viss Syndrome
Atrial septal defect, Polyhydramnios, Epidural hemorrhage, Patent ductus arteriosus, Patent foram... OMIM:619472
Acrofrontofacionasal Dysostosis 1
Short stature, Microphthalmia OMIM:201180
Teebi-Shaltout Syndrome
Short stature, Microphthalmia OMIM:272950
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine... ORPHA:93325
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele, Patent ductus arteriosus ORPHA:861
Myhre Syndrome
Microphthalmia, Short stature, Patent ductus arteriosus, Intrauterine growth retardation, Birth l... OMIM:139210
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1587
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature OMIM:127000
Fryns Syndrome
Microphthalmia ORPHA:2059
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Cockayne Syndrome B
Postnatal growth retardation, Microphthalmia, Hypoplasia of the iris, Severe short stature, Intra... OMIM:133540
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris ORPHA:564
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Patent ductus arteriosus, I... OMIM:249000
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
22Q11.2 Deletion Syndrome
Microphthalmia, Patent ductus arteriosus, Meningocele, Truncus arteriosus, Spina bifida, Short st... ORPHA:567
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia OMIM:613884
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Patent ductus arteriosus, Anophtha... ORPHA:138
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Small placenta, Hydranencephaly, Spina bifida, Patent ductu... OMIM:256520
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Right-to-left shunt, Lip telangiectasia, Spontaneous, rec... OMIM:610655
Microphthalmia, Syndromic 2
Microphthalmia, Patent ductus arteriosus, Anophthalmia, Short stature, Umbilical hernia, Phthisis... OMIM:300166
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Intrauterine growth retardation, Microphthalmia, Branchial cyst, Short stature OMIM:620186
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Isolated Arrhinia
Microphthalmia ORPHA:1134
Rothmund-Thomson Syndrome, Type 2
Short stature, Microphthalmia OMIM:268400
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Microphthalmia, Short stature, Umbilical hernia, Buphthalmos ORPHA:534
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Occipital meningocele OMIM:610828
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Severe short stature, Anophthalmia ORPHA:2526
Fontaine Progeroid Syndrome
Microphthalmia, Short stature, Umbilical hernia, Patent ductus arteriosus, Intrauterine growth re... OMIM:612289
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Microphthalmia OMIM:309801
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos, Severe short s... ORPHA:468631
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Microphthalmia OMIM:259770
Aicardi Syndrome
Delayed puberty, Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Short stature, Microphthalmia, True anophthalmia ORPHA:1106
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia OMIM:608670
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele OMIM:610829
Mend Syndrome
Short stature, Microphthalmia ORPHA:401973
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Microphthalmia ORPHA:90324
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Growth delay, Severe short stature ORPHA:191
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Patent ductus arteriosus, Anophthalmia ORPHA:141099
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Short stature, Um... OMIM:305600
Fraser Syndrome 2
Microphthalmia OMIM:617666
Steinfeld Syndrome
Microphthalmia OMIM:184705
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Microphthalmia OMIM:616734
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Neuroocular Syndrome
Microphthalmia, Short stature, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia OMIM:619539
Traboulsi Syndrome
Microphthalmia OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Truncus arteriosus, Short... ORPHA:508488
Monosomy 9P
Microphthalmia ORPHA:261112
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele OMIM:100300
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Microphthalmia, Anencephaly OMIM:236680
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Yunis-Varon Syndrome
Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Short stature ORPHA:3472
Fryns Syndrome
Microphthalmia OMIM:229850
Witteveen-Kolk Syndrome
Microphthalmia, Short stature, Growth delay, Intrauterine growth retardation, Branchial fistula OMIM:613406
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Patent ductus arteriosus, Anophtha... OMIM:214800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Truncus arteriosus, Patent ductus arteriosus OMIM:612474
Renpenning Syndrome 1
Short stature, Microphthalmia OMIM:309500
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Pallister-Hall Syndrome
Microphthalmia, Short stature, Umbilical hernia, Patent ductus arteriosus, Intrauterine growth re... ORPHA:672
Branchiooculofacial Syndrome
Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growt... OMIM:113620
Lowe Oculocerebrorenal Syndrome
Short stature, Microphthalmia, Postnatal growth retardation OMIM:309000
Holoprosencephaly 1
Short stature, Microphthalmia OMIM:236100
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia OMIM:219000
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Patent duct... OMIM:268300
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Norrie Disease
Delayed puberty, Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Mowat-Wilson Syndrome
Short stature, Microphthalmia, Patent ductus arteriosus OMIM:235730
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Short stature, Patent ductus arteriosus ORPHA:857
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Anophthalmia, Branchial anomaly, Patent ductus arteriosus OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Short stature, Microphthalmia, Patent ductus arteriosus, Growth delay ORPHA:2152
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Microphthalmia, Patent ductus arteriosus ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Microphthalmia ORPHA:261537
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800
Breast Cancer
OMIM:114480

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rb1cc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rb1cc1.

No publications found that use IMPC mice or data for Rb1cc1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rb1cc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rb1cc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rb1cc1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Rb1cc1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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