Gene Summary

Name:
solute carrier family 39 (metal ion transporter), member 8
Synonyms:
ZIP8,  BIGM103,  4933419D20Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Slc39a8tm1b(EUCOMM)Wtsi HET Early adult 2.38×10-05
preweaning lethality, complete penetrance Slc39a8tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal retina morphology Slc39a8tm1b(EUCOMM)Wtsi HET   Early adult 1.88×10-06

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cartilage tissue  Wholemount images heterozygote 50% (1 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lung  Wholemount images heterozygote Ambiguous
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 0.0% (0 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

11 Images

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Slc39a8 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 Slc39a8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Slc39A8-Cdg
Abnormal blood zinc concentration, Knee flexion contracture, Hypomanganesemia, Elbow flexion cont... ORPHA:468699
Congenital Disorder Of Glycosylation, Type Iin
OMIM:616721

The table below shows human diseases predicted to be associated to Slc39a8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia ORPHA:436182
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Hyperalaninemia OMIM:617228
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hypertriglyceridemia OMIM:615238
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Retinal Detachment
Retinal detachment OMIM:180050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... OMIM:615703
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprote... OMIM:207750
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... OMIM:616468
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect OMIM:615297
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:249670
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... ORPHA:1209
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... ORPHA:1354
Hemochromatosis Type 2
Dilated cardiomyopathy, Increased circulating ferritin concentration, Abnormality of iron homeost... ORPHA:79230
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... OMIM:607598
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Hemochromatosis, Type 2B
Increased serum iron, Elevated transferrin saturation, Cardiomyopathy, Increased circulating ferr... OMIM:613313
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hyperzincemia With Functional Zinc Depletion
Vasculitis, Increased serum zinc OMIM:601979
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... OMIM:619167
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy OMIM:606721
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Cardiomyocyte hypertrophy, Congestive hea... OMIM:605676
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Increased serum iron, Cardiomyopathy, Increased circulating ferritin conc... OMIM:602390
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Oligohydramnios, Arrhythmia OMIM:617021
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Polyhydramnios ORPHA:3469
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased serum zinc, Decreased serum iron, Abno... ORPHA:89842
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Telangiectasia, Biventricular hypertrophy, Edema, A... ORPHA:101028
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios ORPHA:3405
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger ORPHA:1388
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hemochromatosis, Type 3
Increased serum iron, Elevated transferrin saturation, Cardiomyopathy, Increased circulating ferr... OMIM:604250
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Hypercholesterolemia, Increased circulating ... OMIM:238600
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... OMIM:601005
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... OMIM:618901
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydramnios OMIM:263630
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Hypokalemia, Decreased circul... OMIM:615474
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Pedal edema OMIM:126320
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Nonimmune hydrops fetalis, Increased circu... OMIM:231100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hemochromatosis, Type 4
Elevated transferrin saturation, Arrhythmia, Cardiomyopathy, Increased circulating ferritin conce... OMIM:606069
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... OMIM:618782
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, Biventricular ... ORPHA:860
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Noonan Syndrome 12
Supravalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot, Polyhydramnios OMIM:618624
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Polyhydramnios, Pul... OMIM:615355
Hemochromatosis, Type 1
Increased serum iron, Telangiectasia, Ascites, Cardiomegaly, Cardiomyopathy, Increased circulatin... OMIM:235200
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:261243
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Atrial septal defect, Oligohydramnios, Atrial flutter, Overriding aort... OMIM:601927
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... ORPHA:439
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Ascites, Edema, Cardiomyopathy, Polyhydramnios, Arthrogryposis multiplex... OMIM:232500
Smith-Magenis Syndrome
Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia OMIM:182290
Slc39A8-Cdg
Abnormal blood zinc concentration, Knee flexion contracture, Hypomanganesemia, Elbow flexion cont... ORPHA:468699
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:617044
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc, Oligohydramnios ORPHA:541423
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Supravalvular ao... ORPHA:1461
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Griscelli Syndrome Type 1
Retinopathy, Hyperlipidemia ORPHA:79476
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... ORPHA:2299
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios, Pulmonic stenosis ORPHA:139466
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Abnormality of iron homeostasis, Elevated jugular venous pressure, Cardiom... ORPHA:465508
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Right ventricular hypertrophy, Arthrogryposis multiplex congenita, Atr... OMIM:208085
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Prolonged QT interval, Perica... ORPHA:26793
Filippi Syndrome
Ventricular septal defect OMIM:272440
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Beta-Thalassemia
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis ORPHA:848
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:612946
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect, Diastasis recti, Polyhydramnios ORPHA:254534
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tachycardia, Atrial septal defect, Contractures of the i... OMIM:613870
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Hypoplastic left heart ORPHA:1455
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Ventricular hypertrophy, ... OMIM:612561
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Atrial septal defect, Patent fo... OMIM:618652
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... ORPHA:99094
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Aortic valve... OMIM:248950
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619189
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Lymphedema-Distichiasis Syndrome
Lymphedema, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia, Predominantly lower limb ... OMIM:153400
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Truncus arteriosus ORPHA:401935
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation OMIM:616589
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Edema, Mitral stenosis, Tricuspid valve prolapse, Tricu... OMIM:212093
Atrioventricular Septal Defect 3
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... OMIM:600309
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Polyhydramnios ORPHA:2256
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Tachycardia, Pulmon... ORPHA:3426
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot ORPHA:1166
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia, Edema OMIM:618348
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618974
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Pulmonic... OMIM:179613
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Decreased serum zinc, Joint contractures involving the joints of the feet... ORPHA:79408
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia, Arthrogr... OMIM:613404
King-Denborough Syndrome
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Elevated circulatin... OMIM:619542
Fetal Trimethadione Syndrome
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... ORPHA:1913
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Neonatal Hemochromatosis
Increased serum iron, Increased circulating ferritin concentration ORPHA:446
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... ORPHA:363705
Tyshchenko Syndrome
Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pulmonic stenosis OMIM:615102
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypokalemia, Ventricular hypert... ORPHA:369929
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Elevated circulatin... OMIM:618775
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Atrial septal defect, Pulmonary arterial hypertension OMIM:608406
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Cardiomegaly, Polyhydramnios, Fl... OMIM:616897
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systolic heart murmur, Elevated... OMIM:617478
Smith-Magenis Syndrome
Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia ORPHA:819
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Hematochezia, Polyhydramnios OMIM:243150
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased... ORPHA:766
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia, Pigmentary retinopa... OMIM:203800
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... ORPHA:1457
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Holt-Oram Syndrome
Ventricular septal defect, Atrioventricular canal defect, Atrioventricular block, Atrial septal d... ORPHA:392
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:614261
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Cardiomegaly, Oligohydramnios, Overriding aorta, Hydrops ... OMIM:617022
Woods Syndrome
Ventricular septal defect OMIM:615236
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:278000
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios ORPHA:1923
Desbuquois Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... ORPHA:1425
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hypertriglyceridemia, Lipemia retinalis, Increased circulating chylomicron concen... ORPHA:444490
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Abnormal circulating copper concentration, Facial diplegia, Foot... ORPHA:521411
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98855
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Scimitar Syndrome
Dextrocardia, Left-to-right shunt, Ventricular septal defect, Truncus arteriosus, Tricuspid atres... ORPHA:185
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Roifman Syndrome
Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy OMIM:616651
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ventricular septal defect, Hypernatremia, Pulmonic stenosis OMIM:615508
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contractur... OMIM:603387
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fall... OMIM:618316
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Pulmonary arteri... ORPHA:210122
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormal heart morphology, Pulmonary arterial hypertension, Decreased serum iron, Flexion contrac... ORPHA:391372
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Elevated circula... ORPHA:97214
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:98853
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect OMIM:617164
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Neonatal death, Aplasia of the le... OMIM:608978
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus ORPHA:2516
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... OMIM:616564
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect OMIM:600987
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Burn-Mckeown Syndrome
Ventricular septal defect, Atrial septal defect, Hypomimic face OMIM:608572
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture OMIM:147800
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Brachydactyly, Type B1
Ventricular septal defect, Joint contracture of the hand, Camptodactyly OMIM:113000
Prune Belly Syndrome
Ventricular septal defect, Oligohydramnios, Atrial septal defect, Tetralogy of Fallot, Aplasia of... ORPHA:2970
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Transketolase Deficiency
Ventricular septal defect, Elevated circulating ribitol concentration, Abnormal heart morphology,... ORPHA:488618
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios OMIM:219730
Transaldolase Deficiency
Telangiectasia, Ventricular septal defect, Oligohydramnios, Atrial septal defect, Patent foramen ... OMIM:606003
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:617360
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Poly... ORPHA:3071
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Congenital muscular torticollis ORPHA:2345
Kagami-Ogata Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Polyhydramnios, Pulmonic stenosis, Di... OMIM:608149
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618142
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale ORPHA:500159
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Double outlet right ... ORPHA:477817
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Mitral ste... OMIM:605275
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Congenital Rubella Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:290
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
African Iron Overload
Elevated hepatic iron concentration, Abnormal heart morphology, Elevated transferrin saturation, ... ORPHA:139507
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... ORPHA:7
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Tricuspid regurgitation, Increased nuchal translucency, Atrial septal ... OMIM:618870
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:600123
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:145420
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial... OMIM:610733
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Distal arthrogryposis, Mitral valve prolapse, H... OMIM:121050
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ventricular septal defect, Ascites, Polyhydramnios, Hypocalcemia, Lymphedema OMIM:235255
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Overriding aorta, Camptodactyly OMIM:616145
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pulmonic stenosis... OMIM:609029
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:300963
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Elevated circulating creatine kinase concentration, Hypervalinemia, Ex... OMIM:615673
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Ventricular septal defect, Atrial septal defe... OMIM:614576
Trichohepatoenteric Syndrome 1
Increased serum iron, Ventricular septal defect, Abnormality of iron homeostasis, Aortic regurgit... OMIM:222470
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Atrial septal defect, Mitral regurgitation, Camptodactyly OMIM:301039
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:2143
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613457
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Macroglossia OMIM:612938
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Seckel Syndrome 10
Retinal detachment, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent foramen ovale OMIM:610338
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Macroglossia, Abnormal heart morphology, Camptodactyly, Patent foramen... ORPHA:369891
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:261190
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia ORPHA:85194
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Ventricular septal defect, Hypoplastic left heart, Tetralogy... ORPHA:1727
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Camptodactyly of finger ORPHA:1488
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Patent foramen ovale ORPHA:329224
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis, Hypocalcemia OMIM:228100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Ventricular septal defect, Flexion contracture ORPHA:79243
Trisomy 13
Ventricular septal defect, Atrial septal defect, Hydrops fetalis ORPHA:3378
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... ORPHA:3097
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia OMIM:169400
Diamond-Blackfan Anemia 7
Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Secundum atrial septal defect, Sm... OMIM:612562
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Seckel Syndrome 9
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Polyhydramnios OMIM:616777
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Mitral regurgitation, Hyperlipidemia, Aortic regurgitation, Arthrogryp... ORPHA:254346
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Diabetic Embryopathy
Transposition of the great arteries, Ventricular septal defect, Aplasia/Hypoplasia of the abdomin... ORPHA:1926
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:613327
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:75389
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Elevated circulating creatine kinase concentra... OMIM:614921
Candidiasis, Familial, 2
Decreased serum iron OMIM:212050
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pulmonic stenosis... ORPHA:96170
Gm1 Gangliosidosis
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Macroglossia, Ab... ORPHA:354
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Decreased circulating ferritin concentration, Abnormal blood inorgan... ORPHA:309854
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Elevated circulating creatine kinase concentration, Double outlet righ... OMIM:301056
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Camptodactyly, Pulmonic stenosis OMIM:619123
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618950
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... OMIM:609942
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Ventricular septal defect, Pericardial effusion, Joint contracture of the hand, Pleur... OMIM:235510
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Aortic regurgitation, Edema, Congestive heart failure, Heart murmur ORPHA:1054
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Hyperbilirubinemia, Increased total... OMIM:616278
Heart And Brain Malformation Syndrome
Ventricular septal defect, Polyhydramnios, Camptodactyly of finger OMIM:616920
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... OMIM:601186
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Endocardial fibroelastosis, Polyhydramnios, Atrial septa... ORPHA:99776
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Aceruloplasminemia
Torticollis, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Ogden Syndrome
Torticollis, Ventricular septal defect, Arrhythmia, Cardiogenic shock ORPHA:276432
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Methanol Poisoning
Abnormality of the optic nerve, Hyperlipidemia ORPHA:31825