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Gene: Ncoa6 MGI:1929915

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Gene Summary

Name:
nuclear receptor coactivator 6
Synonyms:
PRIP,  ASC2,  NRC,  AIB3,  RAP250,  ASC-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Ncoa6em1(IMPC)J HET   Early adult 2.98×10-05
preweaning lethality, incomplete penetrance Ncoa6em1(IMPC)J HOM   Early adult 0.00
abnormal retina morphology Ncoa6em1(IMPC)J HET Early adult 2.61×10-06

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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.

Eye Morphology

Images Ophthalmoscopy

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Ncoa6 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ncoa6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 7
Developmental cataract OMIM:115660
Trichomegaly
Cataract OMIM:190330
Cataract 42
Cataract, Developmental cataract OMIM:115900
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Nathalie Syndrome
Cataract ORPHA:2663
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
X-Linked Retinoschisis
Cataract ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Drusen, Macular scar OMIM:615439
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, H... ORPHA:75234
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cataract 47
Cataract, Microcornea OMIM:612018
Galactosemia Ii
Cataract OMIM:230200
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Galactosemia Iv
Cataract OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos... OMIM:615703
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepatic stea... OMIM:614480
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... OMIM:612526
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Nathalie Syndrome
Cataract OMIM:255990
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Vomiting, Diarrhea, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Hypercholesterolemia OMIM:301033
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Dysequilibrium Syndrome
Cataract ORPHA:1766
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Increased LDL cholesterol concentrati... OMIM:278000
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Aniridia 3
Cataract, Aniridia OMIM:617142
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... OMIM:269400
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast... OMIM:613561
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis OMIM:614416
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... OMIM:610202
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Retinitis Pigmentosa 40
Cataract OMIM:613801
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... OMIM:238600
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Oligodactyly, Intrauterine growth retardation, Abnormality of the ha... ORPHA:521308
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia... OMIM:612109
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Dilated third ventricle, Increased endomysial connective tissue, Lateral vent... OMIM:613154
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... OMIM:620548
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Limb hypertonia, Partial agenesis of the c... OMIM:617296
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia, Chronic constipation OMIM:620211
Dystonia 30
Hypothalamic hamartoma, Torticollis OMIM:619291
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Sp... ORPHA:848
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarr... ORPHA:247585
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ... ORPHA:263501
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Reticulocytosis, Anemia of inadequate production, An... OMIM:615631
Cataract 48
Cataract OMIM:618415
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreonin... ORPHA:247598
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Limb muscle weakness, ... ORPHA:90064
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231226
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Abnormal hemoglobin, Splenomegaly, Anemia, Hydrocephalus, Hepat... ORPHA:163596
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Galactokinase Deficiency
Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Hepatomegaly, ... ORPHA:79237
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Megal... ORPHA:49827
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
ERI1-related disease
Slender metacarpals, Oligodactyly, Intrauterine growth retardation, Clinodactyly of the 5th finge... OMIM:608739
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... ORPHA:276575
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single transverse palma... OMIM:201170
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Duplication Of The Pituitary Gland
Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Abnormal pituitary ... ORPHA:314621
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Hypomimic face OMIM:618824
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Interhypothalamic adhesion, Dextrocardia, Agenesis of corpus callosum OMIM:618929
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231214
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Decreased thalamic volume, Occipital encephalocele, Ventriculomegaly, Cardiom... ORPHA:370959
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... ORPHA:3258
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul... OMIM:146510
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276580
Morm Syndrome
Cataract ORPHA:75858
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Flexion contracture, Dilated third ventricle, Hydrocephalus ORPHA:500055
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Humeroradia... OMIM:251230
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Retinitis Pigmentosa 9
Cataract OMIM:180104
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Diarr... ORPHA:264580
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Arthrogryposis multiplex congenita OMIM:619072
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy... ORPHA:412
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Sp... ORPHA:79240
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... ORPHA:397715
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han... ORPHA:536516
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Contracture of the proximal interphalangea... ORPHA:464738
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Ventricular septal defect OMIM:619575
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Abnormal morphology of ... ORPHA:1307
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... ORPHA:75564
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Torticollis OMIM:613724
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated third ventricle, Dilated fourth ventricle, Limb hypertonia, Diaphragmat... OMIM:615574
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:210500
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly, Hyperpigmentation ... ORPHA:75563
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Patent foramen ovale, Car... OMIM:620371
Congenital Generalized Lipodystrophy
Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased... ORPHA:528
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hepatic failure, Secundum atrial septal defect, Umbilical hernia, Oligodactyly, Clinodactyly of t... OMIM:619758
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract ORPHA:2489
Otodental Syndrome
Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Limb hypertonia, Atrial septal defe... OMIM:620070
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation ORPHA:544488
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... OMIM:602347
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Aganglionic megacol... ORPHA:3386
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract OMIM:620425
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Cardiomegaly, Iron deficiency anemia, He... ORPHA:99931
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Hypochromic anemia, Generalized limb muscle atrophy, Microcytic anemia, S... OMIM:600462
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Cyclic Vomiting Syndrome
Pallor, Growth delay, Cardiomyopathy OMIM:500007
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Stickler Syndrome, Type V
Cataract OMIM:614284
Wagner Vitreoretinopathy
Cataract OMIM:143200
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... ORPHA:54595
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy, Abnorma... ORPHA:444013
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Myopathy ORPHA:254881
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly ORPHA:3016
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Pallor, Patent ... OMIM:609053
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikiloc... OMIM:615234
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Umbilical hernia, Lymphedema, Mild postnatal growth retardation, P... OMIM:235510
Retinitis Pigmentosa 84
Cataract OMIM:618220
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Pallor, Short stature, Hypopigmentation of hair ORPHA:2786
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Sma... ORPHA:36412
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... ORPHA:292
Cahmr Syndrome
Lamellar cataract OMIM:211770
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Abnormal thalamus morphology ORPHA:467166
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the... ORPHA:2538
Congenital Disorder Of Glycosylation, Type Il
Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect OMIM:608776
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... ORPHA:139507
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi... OMIM:266200
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Distal amyotrophy, Lateral ventricle dilatation, Lower limb muscle weakness... ORPHA:2822
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Optic nerve hypoplasia OMIM:620609
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Ascites, Intrauterine growth retardation, Portal hypertension, Left ventri... OMIM:619487
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Spina bifida, Partial... OMIM:304050
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect, Neutropenia, Small ... OMIM:105650
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation ORPHA:485
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Retinitis Pigmentosa 4
Cataract OMIM:613731
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... OMIM:613839
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circ... ORPHA:33402
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Cardiomyopathy OMIM:619046
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Cryptorchidism, Abnormal sperma... ORPHA:261529
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr... OMIM:616589
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Multiple joint contractures, Abnormality of the diencep... ORPHA:2570
Rheumatic Fever
Erythema, Epistaxis, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A... ORPHA:3099
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Abnormal thalamus morphology, Ventricular septal defect ORPHA:404440
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Abnormal thalamus morphology, Knee flexion contracture, Ventricular sept... ORPHA:435638
Achromatopsia 3
Cataract OMIM:262300
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Microphthalmia OMIM:601794
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Peripheral Cone Dystrophy
Pallor OMIM:609021
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Evans Syndrome
Epistaxis, Pallor, Autoimmune hemolytic anemia, Petechiae, Syncope, Neutropenia in presence of an... ORPHA:1959
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Myocardial necrosis, Facial palsy ORPHA:68
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Neutropenia, Absent radius, Leukemia, Patent ductus arteriosus, Annu... OMIM:227646
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Smith-Magenis Syndrome
Constipation, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia ORPHA:324575
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarr... ORPHA:275761
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Myocardial eo... ORPHA:3260
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741