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Gene: Rb1cc1 MGI:1341850

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Gene Summary

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

Order Alleles

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 vitelline vasculature morphology Rb1cc1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Rb1cc1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta morphology Rb1cc1em1(IMPC)Mbp HET E15.5 0.00
abnormal heart morphology Rb1cc1em1(IMPC)Mbp HET E9.5 0.00
embryonic growth retardation Rb1cc1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Rb1cc1em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Rb1cc1em1(IMPC)Mbp HET E9.5 0.00
abnormal visceral yolk sac morphology Rb1cc1em1(IMPC)Mbp HOM E9.5 0.00
microphthalmia Rb1cc1em1(IMPC)Mbp HOM E15.5 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

112 Images

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Gross Morphology Embryo E9.5

Images

12 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

4 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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MicroCT E9.5

Embryo reconstruction

8 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
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... 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
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... OMIM:619048
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... OMIM:613313
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Azo... OMIM:602390
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... ORPHA:615
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Pa... OMIM:613561
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg... ORPHA:57777
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... ORPHA:163596
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, ... ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... OMIM:212140
Butyrylcholinesterase Deficiency
Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Congestive heart... ORPHA:132
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly... OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... ORPHA:2414
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Endocardial Fibroelastosis
Cryptorchidism, Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Edema, Pulmonary embolism, Co... ORPHA:90308
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Card... ORPHA:3386
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail... ORPHA:1194
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites OMIM:269920
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m... ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Dk1-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ... ORPHA:91131
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... ORPHA:330001
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... ORPHA:848
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... OMIM:611126
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Sandhoff Disease
Splenomegaly, Hepatomegaly, Congestive heart failure ORPHA:796
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia... ORPHA:3032
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Oligozoospermia, Hypertension, Azoospermia, Hepa... OMIM:615703
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Elevated circulat... ORPHA:52430
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c... ORPHA:261519
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis,... ORPHA:101028
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... ORPHA:98909
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Conge... ORPHA:465508
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen... OMIM:232500
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Atransferrinemia
Congestive heart failure, Abnormality of the liver OMIM:209300
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, P... ORPHA:422
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Redundant skin OMIM:301021
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu... ORPHA:79083
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, S... ORPHA:746
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Pallor ORPHA:99931
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur ORPHA:3400
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... OMIM:616866
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... ORPHA:67
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Nanophthalmos
Microphthalmia ORPHA:35612
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Acute pan... ORPHA:26791
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... ORPHA:1349
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Ventricular septal defect... OMIM:208085
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Atrial septal defect, Pericardial eff... ORPHA:363705
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ... ORPHA:2348
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... ORPHA:3099
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure, Jaundice, Dil... ORPHA:231226
Nanophthalmos 4
Microphthalmia OMIM:615972
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertensio... ORPHA:64743
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... OMIM:266500
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Congenital Generalized Lipodystrophy
Hepatomegaly, Congestive heart failure, Skeletal muscle hypertrophy, Macroglossia, Cirrhosis, Hyp... ORPHA:528
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia ORPHA:157973
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... ORPHA:500533
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Cardiomega... ORPHA:308552
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Babesiosis
Hepatomegaly, Myocardial infarction, Congestive heart failure, Jaundice, Splenomegaly, Hepatic fa... ORPHA:108
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure,... ORPHA:231214
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, S... OMIM:615895
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial hypertension OMIM:619751
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... OMIM:619259
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ... ORPHA:98908
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma ORPHA:141179
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Evans Syndrome
Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Jaundice,... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Congestive heart failure, Left ventricular hypertrophy, Hepatic fa... OMIM:619355
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Lymphedema, Splenomegaly, Intracranial hemorrhage, Pallor,... ORPHA:3226
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Jaundice, Splenomeg... ORPHA:231222
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma ORPHA:141184
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Splenomegal... ORPHA:565612
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Splenomegaly, Skin ulcer, Pallor ORPHA:507
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Peritonitis, Vasc... ORPHA:727
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... ORPHA:91139
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, I... ORPHA:824
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentrat... OMIM:608779
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Reduced red cell pyruvate kinase level, Splenomegaly, Ja... OMIM:266200
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... OMIM:617253
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... ORPHA:33226
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter... ORPHA:354
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Peripheral Cone Dystrophy
Pallor OMIM:609021
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Raynau... ORPHA:3260
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Splenomegaly, Congestive heart failure, Pallor ORPHA:75564
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... ORPHA:980
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ... ORPHA:185
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... OMIM:203800
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the li... ORPHA:137667
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Abnormal intrahepa... ORPHA:363618
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Congestive he... OMIM:309900
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Vasculitis, Congesti... ORPHA:2331
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Patent ductus arteriosus, Flexion contracture, Splenomega... OMIM:617303
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor OMIM:613839
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Perimembranous ventri... OMIM:608104
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Optic Atrophy 1
Pallor OMIM:165500
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Fumarase Deficiency
Decreased fumarate hydratase activity, Polyhydramnios, Intrahepatic cholestasis, Ascites, Perimem... OMIM:606812
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... ORPHA:280365
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... ORPHA:263455
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... ORPHA:171
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Pallor, Elevated hepatic iron concentration OMIM:615234
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor ORPHA:90033
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, Congestive heart failure, ... ORPHA:85450
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Mmep Syndrome
Microphthalmia ORPHA:3434
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Cednik Syndrome
Congestive heart failure ORPHA:66631
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Purpura, Elevated circulating aspartate ami... ORPHA:466677
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Bradycardia, Decreas... ORPHA:90051
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Jaund... ORPHA:525731
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Lack of skin... OMIM:231050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Avian Influenza
Elevated hepatic transaminase, Congestive heart failure, Rhabdomyolysis, Hepatitis, Increased cir... ORPHA:454836
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he... OMIM:229300
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,... ORPHA:2326
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest... ORPHA:423
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Congestive heart failure, Jaundice, Splenomegaly, Myopathy, Cholecystiti... OMIM:615512
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Camptodactyly of finger... ORPHA:99776
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Polyhydramnios, Congestive heart failure, Flexion contracture, Dehydration, Pr... OMIM:616271
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Polyhydramnios, Microvesicular hepatic steatosis, Jaundice, Conges... OMIM:617156
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Ging... ORPHA:98870
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion... ORPHA:505248
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Foot joint contracture, Facial palsy, Hyperechogenic pancreas, Achilles tendon cont... ORPHA:456312
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Congenital Rubella Syndrome
Short stature, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Microphthalmia, Intraute... ORPHA:290
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Dehydration, Hypertension, Pallor, Hypotension ORPHA:134
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor OMIM:609053
Autosomal Erythropoietic Protoporphyria
Edema, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Torticollis, Congestive heart failure, Abn... ORPHA:48818
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Cardiomegaly, Congestive heart fa... ORPHA:14
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Meckel Syndrome, Type 8
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia OMIM:613885
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Erdheim-Chester Disease
Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Joint swelli... ORPHA:35687
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal tendon morpholo... ORPHA:579
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Congenital Toxoplasmosis
Microphthalmia, Intrauterine growth retardation ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Breath-Holding Spells
Pallor OMIM:607578
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... ORPHA:682
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Leigh Syndrome
Abnormal circulating enzyme concentration or activity, Skeletal muscle atrophy, Multiple joint co... ORPHA:506
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hepatosplenomegaly, Azoospermia, Pallor, Elevated hepatic iron con... ORPHA:300298
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Skin ulcer... ORPHA:220393
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Decreased muscle mass, ... ORPHA:1900
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Diastasis recti, Palpebr... OMIM:252500
Aarskog-Scott Syndrome
Congestive heart failure, Camptodactyly of finger, Cryptorchidism ORPHA:915
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Myocarditis, C... ORPHA:3342
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor OMIM:600462
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Macr... OMIM:557000
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... ORPHA:31824
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ... OMIM:123700
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:2547
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T... ORPHA:2131
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Listeriosis
Pericarditis, Liver abscess, Myocarditis, Jaundice, Rhabdomyolysis, Congestive heart failure, Per... ORPHA:533
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Seckel Syndrome 2
Growth delay, Microphthalmia, Short stature OMIM:606744
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Pierpont Syndrome
Microphthalmia, Short stature OMIM:602342
Martsolf Syndrome 1
Cryptorchidism, Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail... ORPHA:902
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Pallor, Pulmonary arterial hyper... ORPHA:667
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Redundant skin, Bilateral cryptorchidism, Congestive heart failure, Cuti... OMIM:617403
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Letterer-Siwe Disease
Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Pallor, Hypotension, Elevated total serum tryptase ORPHA:98849
Tetrasomy 5P
Redundant neck skin, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculatu... ORPHA:3309
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Pierpont Syndrome
Microphthalmia ORPHA:487825
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia OMIM:614833
Infection-Related Hemolytic Uremic Syndrome
Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Pancreatitis, Hypertensive crisis, Gen... ORPHA:544482
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Skeletal muscle atrophy, Edema, Splenomegaly, Flexion contracture, Erythema OMIM:619183
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Dry skin ORPHA:508542
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure ORPHA:3077
Bresek Syndrome
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... ORPHA:100078
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Dravet Syndrome
Pallor ORPHA:33069
Retinitis Pigmentosa 51
Pallor OMIM:613464
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Congestive heart failure, Pedal edema ORPHA:247353
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency OMIM:260450
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Ca... OMIM:256040
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Congestive heart failure ORPHA:137608
Trisomy 13
Anophthalmia, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauter... ORPHA:3378
Fanconi Anemia, Complementation Group D2
Anemic pallor, Cryptorchidism, Patent ductus arteriosus, Abnormal heart morphology, Annular pancr... OMIM:227646
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Patent ductus arteriosus, Anophthalmia ORPHA:77298
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis OMIM:166210
Degcags Syndrome
Hepatomegaly, Tachycardia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent duct... OMIM:619488
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Redundant skin, Congestive heart failure, Dilatation of th... ORPHA:90349
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Hepatitis, Renovascular hypertension, Hepatosplenomegaly, Pulmonary art... ORPHA:391487
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... OMIM:619991
Fanconi Anemia, Complementation Group E
Cryptorchidism, Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:600901
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... OMIM:601992
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent ductus arteriosus OMIM:618652
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Redundant skin, Congestive heart failure, Palmoplantar cutis laxa, Neonatal death, Pulmonary arte... OMIM:616482
Refractory Anemia With Excess Blasts
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations ORPHA:86839
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Fanconi Anemia, Complementation Group A
Cryptorchidism, Bruising susceptibility, Anemic pallor, Abnormal heart morphology OMIM:227650
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Microphthalmia, Patent ductus arteriosus, Short stature OMIM:243310
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Pallor, Atrial s... ORPHA:124
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Diaphanospondylodysostosis
Increased nuchal translucency, Abnormal liver lobulation, Oligohydramnios OMIM:608022
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pallor ORPHA:90045
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Neoplasm of the liver, Palpitations, Pallor, Hypertensive crisis, Hypertensi... ORPHA:653
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Dilatation o... ORPHA:90348
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Edema, Cryptorchidism ORPHA:2505
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, P... OMIM:105650
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly ORPHA:2189
Atypical Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Aortic valve calcification, Congestive heart... ORPHA:79474
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Angina pectoris, Myocardial infarction OMIM:176670
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Cryptorchidism, Flexion contracture, Bruising susceptib... OMIM:227645
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:494344
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Pallor, Polyhydramnios ORPHA:1199
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Scalp-Ear-Nipple Syndrome
Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca... OMIM:181270
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Joubert Syndrome 37
Microphthalmia, Short stature OMIM:619185
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Erythema, Retinal ... ORPHA:464
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Short stature ORPHA:1791
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Periorbital edema, At... ORPHA:904
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Growth delay OMIM:120200
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Monosomy 18P
Microphthalmia, Short stature ORPHA:1598
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Aortic regurgitation, Torticollis, Bicuspid aortic valve, Ventricu... OMIM:619475
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:2728
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature OMIM:617883
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Non-Functioning Pituitary Adenoma
Macroorchidism, Macroorchidism, postpubertal, Pallor, Hypotension ORPHA:91349
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Anemic pallor, Edema ORPHA:329971
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Short stature OMIM:602361
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Kapur-Toriello Syndrome
Microphthalmia, Patent ductus arteriosus, Intrauterine growth retardation OMIM:244300
Carney Complex
Neoplasm of the pancreas, Testicular neoplasm, Cardiac myxoma, Congestive heart failure, Testicul... ORPHA:1359
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Microphthalmia, Short stature OMIM:615663
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormal EKG, Myocarditis, Jaundice, Congestive heart failure, Spleno... ORPHA:3385
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele, Growth delay OMIM:614424
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos, Short stature ORPHA:369891
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation OMIM:206920
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:248700
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Kapur-Toriello Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:2328
Micro Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature OMIM:617306
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart blo... ORPHA:797
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Fanconi Anemia, Complementation Group F
Microphthalmia, Patent ductus arteriosus, Short stature, Intrauterine growth retardation OMIM:603467
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pallor ORPHA:101096
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Temtamy Syndrome
Microphthalmia OMIM:218340
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Retinitis Pigmentosa 75
Pallor OMIM:617023
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Tay-Sachs Disease
Pallor OMIM:272800
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia OMIM:616920
Moebius Syndrome
Microphthalmia OMIM:157900
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Parkes Weber Syndrome
Abnormal bleeding, Subarachnoid hemorrhage, High-output congestive heart failure, Skin ulcer, Bou... ORPHA:90307
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Mitral valve prola... ORPHA:558
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
3P25.3 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:435638
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Short stature, Patent ductus arteriosus, Anencephaly, Microphthalmia OMIM:619148
Prolactinoma
Pallor, Hypotension ORPHA:2965
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Dry skin, Hypotension ORPHA:428
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... OMIM:182250
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Excessive wrinkled skin,... OMIM:225400
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Childhood Absence Epilepsy
Pallor ORPHA:64280
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Oculofaciocardiodental Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:2712
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation OMIM:613451
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Hallermann-Streiff Syndrome
Congestive heart failure, Abdominal situs inversus, Cryptorchidism ORPHA:2108
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
1Q21.1 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus, Short stature, Intrauterine growth retardation ORPHA:250989
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Microphthalmia, Short stature ORPHA:35173
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature OMIM:612530
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature OMIM:618571
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:2714
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon... ORPHA:2839
Microphthalmia, Syndromic 9
Anophthalmia, Short stature, Severe short stature, Patent ductus arteriosus, Bilateral microphtha... OMIM:601186
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Cat Eye Syndrome
Microphthalmia, Patent ductus arteriosus, Umbilical hernia, Short stature OMIM:115470
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Refsum Disease
Microphthalmia ORPHA:773
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:193
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Lymphe... ORPHA:79318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Trisomy 18
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... ORPHA:3380
Phace Association
Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia OMIM:606519
Galloway-Mowat Syndrome 3
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:617729
Alström Syndrome
Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepat... ORPHA:64
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Rhizomelia OMIM:302960
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Focal Dermal Hypoplasia
Spina bifida, Patent ductus arteriosus, Hypoplasia of the iris, Umbilical hernia, Microphthalmia ORPHA:2092
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation OMIM:251300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
3Q29 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short stature OMIM:601675
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Microphthalmia, Lenz Type
Microphthalmia, Short stature ORPHA:568
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia, Patent ductus arteriosus, Rhizomelia OMIM:616300
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Cousin Syndrome
Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia OMIM:260660
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Pallister-Hall Syndrome
Microphthalmia, Patent ductus arteriosus, Short stature, Intrauterine growth retardation OMIM:146510
Meckel Syndrome 14
Microphthalmia, Occipital encephalocele OMIM:619879
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Dubowitz Syndrome
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... OMIM:223370
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:364577
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Lymphedema-Distichiasis Syndrome
Microphthalmia, Patent ductus arteriosus OMIM:153400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Papillorenal Syndrome
Microphthalmia, Short stature OMIM:120330
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature, Spina bifida OMIM:234100
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:614083
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia ORPHA:2166
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
Atelis Syndrome 2
Microphthalmia, Patent ductus arteriosus OMIM:620185
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Patent ductus arteriosus, Severe postnatal growth retardation, Intrauterine growt... OMIM:620005
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Momo Syndrome
Bilateral microphthalmos, Short stature ORPHA:2563
Holoprosencephaly
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia ORPHA:2162
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Patent ductus arteriosus, Short stature, Intrauterine growth retardation OMIM:616975
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
2Q31.1 Microdeletion Syndrome
Microphthalmia, Short stature ORPHA:251014
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia, Truncus arteriosus ORPHA:508498
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Mosaic Variegated Aneuploidy Syndrome
Growth delay, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1052
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Truncus arteriosus, Anophthalmia ORPHA:2538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Fanconi Anemia
Short stature, Spina bifida, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Growth del... ORPHA:84
Teebi-Shaltout Syndrome
Microphthalmia, Short stature OMIM:272950
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... ORPHA:93325
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Patent ductus arteriosus, Branchial fistula ORPHA:861
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature OMIM:201180
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Myhre Syndrome
Short stature, Patent ductus arteriosus, Birth length less than 3rd percentile, Microphthalmia, I... OMIM:139210
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Fryns Syndrome
Microphthalmia ORPHA:2059
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Patent ductus arteriosus, Meningocele, Occipital myelomeningocele, U... ORPHA:567
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Patent ductus arteriosus, Anencephaly, Microphthalmia, I... OMIM:249000
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra... OMIM:133540
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia OMIM:613884
Neu-Laxova Syndrome 1
Spina bifida, Patent ductus arteriosus, Short umbilical cord, Small placenta, Hydranencephaly, Mi... OMIM:256520
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610829
Charge Syndrome
Anophthalmia, Short stature, Postnatal growth retardation, Patent ductus arteriosus, Delayed pube... ORPHA:138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation OMIM:620186
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Isolated Arrhinia
Microphthalmia ORPHA:1134
Microphthalmia, Syndromic 2
Anophthalmia, Short stature, Patent ductus arteriosus, Phthisis bulbi, Umbilical hernia, Micropht... OMIM:300166
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Short stature OMIM:268400
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe
Short stature, Buphthalmos, Umbilical hernia, Delayed puberty, Microphthalmia ORPHA:534
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos OMIM:610828
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Severe short stature, Anophthalmia ORPHA:2526
Fontaine Progeroid Syndrome
Short stature, Patent ductus arteriosus, Umbilical hernia, Microphthalmia, Intrauterine growth re... OMIM:612289
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Short stature OMIM:309801
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Microphthalmia With Limb Anomalies
Microphthalmia, Short stature, True anophthalmia ORPHA:1106
Aicardi Syndrome
Microphthalmia, Delayed puberty ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... ORPHA:468631
Mend Syndrome
Microphthalmia, Short stature ORPHA:401973
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation OMIM:608670
Cockayne Syndrome Type 3
Microphthalmia, Mild postnatal growth retardation ORPHA:90324
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia ORPHA:191
Steinfeld Syndrome
Microphthalmia OMIM:184705
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Proboscis Lateralis
Microphthalmia, Patent ductus arteriosus, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Focal Dermal Hypoplasia
Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ... OMIM:305600
Fraser Syndrome 2
Microphthalmia OMIM:617666
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia OMIM:619539
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Short stature OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, P... ORPHA:508488
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Monosomy 9P
Microphthalmia ORPHA:261112
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Intrauterine growth retardation OMIM:236680
Yunis-Varon Syndrome
Postnatal growth retardation, Microphthalmia, Bilateral microphthalmos, Short stature ORPHA:3472
Fryns Syndrome
Microphthalmia OMIM:229850
Charge Syndrome
Anophthalmia, Postnatal growth retardation, Patent ductus arteriosus, Unilateral microphthalmos, ... OMIM:214800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Microphthalmia, Truncus arteriosus OMIM:612474
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:613406
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Pallister-Hall Syndrome
Short stature, Patent ductus arteriosus, Umbilical hernia, Microphthalmia, Intrauterine growth re... ORPHA:672
Renpenning Syndrome 1
Microphthalmia, Short stature OMIM:309500
Branchiooculofacial Syndrome
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... OMIM:113620
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Microphthalmia, Short stature OMIM:309000
Holoprosencephaly 1
Microphthalmia, Short stature OMIM:236100
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Patent ductus arteriosus, Frontal encephalocele, Severe intrauterin... OMIM:268300
Mowat-Wilson Syndrome
Microphthalmia, Patent ductus arteriosus, Short stature OMIM:235730
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty ORPHA:649
Townes-Brocks Syndrome
Microphthalmia, Patent ductus arteriosus, Short stature, Delayed puberty ORPHA:857
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Patent ductus arteriosus, Branchial anomaly, Microphthalmia OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Growth delay, Microphthalmia, Patent ductus arteriosus, Short stature ORPHA:2152
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Patent ductus arteriosus, Short stature ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Short stature 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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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