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Gene: Ncoa6 MGI:1929915

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Gene Summary

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

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

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

26 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
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
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
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... 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 hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Congenital Primary Aphakia
Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
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
Galactosemia Iv
Cataract OMIM:618881
Nathalie Syndrome
Cataract ORPHA:2663
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrhosis, Hypercholesterol... ORPHA:75234
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Galactosemia Ii
Cataract OMIM:230200
X-Linked Retinoschisis
Cataract ORPHA:792
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Cataract 47
Microcornea, Cataract OMIM:612018
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
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
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Proximal Myotonic Myopathy
Cataract ORPHA:606
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
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
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Nathalie Syndrome
Cataract OMIM:255990
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia OMIM:615863
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Dermoids Of Cornea
Corneal opacity OMIM:304730
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation OMIM:301033
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomiting, Hepat... OMIM:278000
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Dysequilibrium Syndrome
Cataract ORPHA:1766
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Vomiting, I... OMIM:238600
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 41
Nuclear cataract OMIM:116400
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
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
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Ragged-red muscle fibers, Grow... OMIM:613561
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Musc... OMIM:613154
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinodactyly of th... ORPHA:521308
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma OMIM:120433
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... ORPHA:69663
Retinitis Pigmentosa 40
Cataract OMIM:613801
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Pellagra-Like Syndrome
Cataract OMIM:260650
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spondylo-Ocular Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... ORPHA:2414
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... OMIM:239850
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Syndactyly, Short stature, Anemia of inadequate production, Anisoc... OMIM:615631
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... ORPHA:93320
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Int... ORPHA:263501
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Chronic constipation, Hyperammonemia, Increased C-peptide level OMIM:620211
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Dystonia 30
Torticollis, Hypothalamic hamartoma OMIM:619291
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Lower limb hypertonia, Dil... OMIM:617296
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... ORPHA:247585
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Cataract 48
Cataract OMIM:618415
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... ORPHA:90064
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion OMIM:613885
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart fa... ORPHA:163596
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoplasia of the musculatu... ORPHA:231226
Galactokinase Deficiency
Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp... ORPHA:79237
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Hypomimic face OMIM:618824
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Atrioventricular canal defect, Agenesis of corpus callosum, Dextrocardia OMIM:618929
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Duplication Of The Pituitary Gland
Encephalocele, Abnormality of masseter muscle, Abnormal pituitary gland morphology, Abnormal hypo... ORPHA:314621
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Megaloblastic anemia, Congestive heart ... ORPHA:49827
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati... ORPHA:370959
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Flexion contracture, Ventriculomegaly ORPHA:500055
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ... ORPHA:412
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Arthrogryposis multiplex congenita, Decreased thalamic volume OMIM:619072
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha... OMIM:201170
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Meningocele, Colpocephaly, Lateral ventricle ... ORPHA:397715
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Retinitis Pigmentosa 9
Cataract OMIM:180104
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Lateral ventricle dilatation, Atrial septal defect, Dilated third vent... ORPHA:464738
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... ORPHA:1414
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... ORPHA:822
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... OMIM:617442
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Di... OMIM:235555
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Focal T2 hyperintense thalamic lesion OMIM:613724
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation OMIM:619575
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma ORPHA:1473
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema OMIM:608776
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia, Pallor, Hyperpigmentation of the skin ORPHA:75563
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased... ORPHA:528
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi... OMIM:251230
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Diaphragmatic eventration, Dilated third ventricle, Ventriculomegaly, L... OMIM:615574
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
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
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma ORPHA:2791
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp... ORPHA:3104
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
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
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract ORPHA:2489
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... OMIM:620070
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle ORPHA:544488
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas... ORPHA:1307
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... OMIM:600462
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... OMIM:146510
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Congestive heart failure, Cardiom... ORPHA:3386
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... OMIM:615234
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Abnormal thalamic MRI signal intensity... ORPHA:444013
Wagner Vitreoretinopathy
Cataract OMIM:143200
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Pituitary hypothyroi... ORPHA:54595
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... ORPHA:99931
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Spinocerebellar Ataxia With Epilepsy
Myopathy, Focal T2 hyperintense thalamic lesion ORPHA:254881
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Short foot, Clinodactyly of the 5th finger, Umbilical hernia, Hepa... OMIM:619758
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Retinitis Pigmentosa 84
Cataract OMIM:618220
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin ORPHA:2786
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Absent thumb, Short thumb, Short 1st metacarpal, Hypopl... OMIM:609053
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... OMIM:235510
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Cahmr Syndrome
Lamellar cataract OMIM:211770
Congenital Enterovirus Infection
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... ORPHA:292
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology, Ventriculomegaly ORPHA:467166
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Distal amyotrophy, Lateral ventricle dilatation, Hypothalamic at... ORPHA:2822
Chylomicron Retention Disease
Diarrhea, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Vomiting, Hypoch... OMIM:246700
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... ORPHA:36412
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Aicardi-Goutieres Syndrome 9
Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hypertension, Lower limb hyperton... OMIM:619487
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle dil... OMIM:304050
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
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
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Stickler Syndrome, Type V
Cataract OMIM:614284
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Kniest Dysplasia
Cataract, Aplasia/Hypoplasia of the lens, Lens luxation ORPHA:485
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Constipation OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Focal T2 hyperintense thalamic lesion OMIM:619046
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Holoprosencephaly, Hydranencephaly, Abnorma... ORPHA:2570
Retinitis Pigmentosa 4
Cataract OMIM:613731
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, ... ORPHA:435638
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal thalamus morphology, Abnormal heart morphology ORPHA:404440
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Diamond-Blackfan Anemia 1
Reticulocytopenia, High palate, Pallor, Triphalangeal thumb, Neutropenia, Atrial septal defect, S... OMIM:105650
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Peripheral Cone Dystrophy
Pallor OMIM:609021
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract OMIM:601794
Achromatopsia 3
Cataract OMIM:262300
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... ORPHA:3099
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, A... ORPHA:2538
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Growth delay, Pulmonary arterial hypertension, Delayed puberty... ORPHA:77259
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Central Precocious Puberty In Male
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma ORPHA:649929
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... ORPHA:1959
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Fanconi Anemia, Complementation Group D2
Anemic pallor, Reticulocytopenia, Aplasia of the 1st metacarpal, Abnormality of skin pigmentation... OMIM:227646
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Facial palsy, Myocardial necrosis ORPHA:68
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Optic Atrophy 1
Pallor OMIM:165500
Cach Syndrome
T2 hypointense thalamus, Lateral ventricle dilatation, Flexion contracture, Arthrogryposis multip... ORPHA:135
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Mosaic Trisomy 9
Micromelia, Asplenia, Finger clinodactyly, High palate, Endocardial fibroelastosis, Atrial septal... ORPHA:99776
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract ORPHA:363741
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Abnormal heart morphology ORPHA:79264
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot ... OMIM:616589
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Pallo... ORPHA:3260
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Diarrhea, Steatorrhea, Vomiting, Hypocholest... ORPHA:71
Laron Syndrome
Hypercholesterolemia ORPHA:633
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Pallor, Triphalangeal thumb, N... ORPHA:124
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites ORPHA:93552
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... ORPHA:3226
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion OMIM:617822
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Vomiting, Hepatomegaly, Abnormal circulating serine conc... ORPHA:470
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ... OMIM:151660
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Congenital diaphrag... OMIM:618280
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... ORPHA:300298
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Leukoc... ORPHA:20
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Partial agenesis of the corpus callosum, Congenital fibrosis of extraocular muscles,... ORPHA:300570
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:611590
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Ventricular septal defect, Partial agenesis of the corpus callosum, Dil... ORPHA:434179
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... ORPHA:199241
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Mitral valve prolapse ORPHA:309155
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Abnormal thalamic MRI signal intensity, Upper limb muscle weakness, Faci... ORPHA:254930
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Sitosterolemia 1
Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol concentration, Xanthel... OMIM:210250
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Stiff Skin Syndrome
Cataract OMIM:184900
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Abnormal thalamic MRI signal intensity, Increas... ORPHA:70595
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Mele... ORPHA:98870
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Congenital hip dislocation, Foot joint contracture, Facial palsy, Mild postnatal gr... ORPHA:456312
Degcags Syndrome
Abnormality of skin pigmentation, Leukopenia, Iron deficiency anemia, Premature graying of hair, ... OMIM:619488
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi... ORPHA:1788
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Increased ... ORPHA:98849
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morph... ORPHA:667
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
Fanconi Anemia, Complementation Group E
Pancytopenia, Hyperpigmentation of the skin, Anemic pallor, Short stature, Absent thumb, Absent r... OMIM:600901
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Diarrhea, Hepatocellular adenoma, Enterocolit... ORPHA:79259
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... OMIM:206920
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Pallister-Hall-Like Syndrome
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma OMIM:241800
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor ORPHA:56425
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... OMIM:212065
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Petechiae, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Ent... ORPHA:90051
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Polydactyly, Pallor OMIM:613464
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle ORPHA:314404
Cataract 49
Posterior cortical cataract OMIM:619593
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating alkaline phosphata... ORPHA:263455
Smith-Magenis Syndrome
Hypercholesterolemia, Constipation, Hypertriglyceridemia, Gastroesophageal reflux ORPHA:819
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Reticulocyt... OMIM:227650
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia, Vomiting, Nausea ORPHA:90065
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hyperpigmentation of the skin, Anemic pallor, Short stat... OMIM:227645
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect, Hypothalamic hamartoma OMIM:619908
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... OMIM:173800
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Perim... OMIM:606812
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... ORPHA:781
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract OMIM:613730
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial... OMIM:218600
Rhombencephalosynapsis
Fusion of the left and right thalami, Hydrocephalus, Ventriculomegaly ORPHA:59315
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Abnormal liver parenchyma morphology ORPHA:1332
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis OMIM:276822
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fi... OMIM:557000
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosencephaly OMIM:601357
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma ORPHA:139471
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites OMIM:618183
Nance-Horan Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:627
Joubert Syndrome 9
Cataract, Astigmatism OMIM:612285
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... OMIM:602418
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Alg9-Cdg
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Hypoplasia of the mu... ORPHA:79328
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Mitral valve prolapse ORPHA:536532
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep... ORPHA:101330
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Congestive heart failure, Chron... ORPHA:90033
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Monilethrix
Cataract ORPHA:573
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Ventricular septal defect, Flexion contracture, Dilated fou... OMIM:619306
Japanese Encephalitis
Skeletal muscle atrophy, Facial palsy, Paucity of anterior horn motor neurons, Elbow flexion cont... ORPHA:79139
Aicardi-Goutieres Syndrome 7
Edema, Pericardial effusion, Hematemesis, Vasculitis, Oligohydramnios, Hematochezia, Hypertension... OMIM:615846
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Hypomimic face ORPHA:157846
Pallister-Hall Syndrome
Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Ra... ORPHA:672
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Abnormal thalamus morphology ORPHA:2959
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Poikilocytosis, Prol... OMIM:300908
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion ORPHA:464329
Senior-Loken Syndrome 8
Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Microphthalmia, Syndromic 5
Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Microphthalmia OMIM:610125
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Hydranencephaly
Dilatation of the ventricular cavity, Thalamic edema, Dysgenesis of the thalamus, Ventriculomegal... ORPHA:2177
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pigmentary retinopathy, Distal amyotrophy, High palate, Pallor, Incr... OMIM:617675
Isolated Thyroid-Stimulating Hormone Deficiency
Constipation, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulating thyroglobul... ORPHA:90674
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor ORPHA:90037
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Cholecys... ORPHA:90041
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Irida Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology, Pallor ORPHA:209981
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Generalized muscle hypertrophy, S... OMIM:139210
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Neuhauser Syndrome
Hypercholesterolemia, Dysphagia OMIM:249310
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Abnormal thalami... ORPHA:506
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Aymé-Gripp Syndrome
Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro... ORPHA:1272
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Glossitis, Thr... ORPHA:90045
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis OMIM:619471
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Hennekam Syndrome
Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Hyd... ORPHA:2136
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Tay-Sachs Disease
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Abnormal thalamic MRI si... ORPHA:845
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis ORPHA:134
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bicuspid aortic valve, Absent thumb, Unilateral radial aplasia, Hypoplasi... OMIM:614900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Muscle hemorrhage, Abnormal heart morphology, Thalamic hemorrhage, Hypertrophic ... ORPHA:464321
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Cataract, Conjunctivitis OMIM:612843
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... ORPHA:99827
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Gitelman Syndrome
Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Delayed puberty,... ORPHA:358
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Epistaxis, Edema ORPHA:167
Plummer-Vinson Syndrome
Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Pallor, Gl... ORPHA:54028
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Tracheoes... ORPHA:1199
Cornelia De Lange Syndrome
Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Micromelia, Proximal plac... ORPHA:199
Meningioma
Enlarged pituitary gland, Hypothalamic hypothyroidism, Facial palsy, Reduced circulating prolacti... ORPHA:2495
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly ORPHA:2165
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Aceruloplasminemia
Torticollis, Abnormal thalamic MRI signal intensity ORPHA:48818
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... ORPHA:69085
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... OMIM:154400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypertensive crisis, Intestinal perforation, Thrombocytopenia, Leukocytosis, My... ORPHA:544482
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Congenital Disorder Of Deglycosylation 2
Macroglossia, Ventriculomegaly, Partial agenesis of the corpus callosum, Hypothalamic hamartoma OMIM:619775
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... ORPHA:51608
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhyt... ORPHA:2131
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites ORPHA:538
Diaphanospondylodysostosis
Disproportionate short-trunk short stature, Cleft palate, Narrow pelvis bone, Hammertoe, Abnormal... OMIM:608022
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... ORPHA:86839
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... ORPHA:101096
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Pet... OMIM:619539
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Gastroesophageal reflux, Intrah... OMIM:619534
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Bickerstaff Brainstem Encephalitis
Facial palsy, Abnormal thalamic MRI signal intensity, Weakness of facial musculature, Limb muscle... ORPHA:79138
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhag... OMIM:308300
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon ORPHA:2720
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... ORPHA:1225
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Proximal amyotrophy, Neoplasm of the liver, Pa... ORPHA:653
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Pallor OMIM:617023
Orofaciodigital Syndrome Vi
Occipital meningocele, Agenesis of corpus callosum, Hypoplastic left heart, Hypothalamic hamartoma OMIM:277170
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Non-Functioning Pituitary Adenoma
Hypotension, Pallor, Anemia of inadequate production ORPHA:91349
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Pallor OMIM:605549
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Decreased thalamic volume ORPHA:168577
Marfan Syndrome
Cataract, Ectopia lentis, Microspherophakia, Hypoplasia of the iris, Astigmatism OMIM:154700
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Hypertension, Normochromic anemia, Pallor, Hypotension ORPHA:95613
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Diarrhea, Recurrent pancreatitis, Vomiting, Dysphagia, Hypercholesterolemia OMIM:606721
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... ORPHA:329971
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Abnormal heart morphology, Hypothalamic hamartoma, Agenesis of c... OMIM:311200
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Gastroesophageal reflux, Constipati... ORPHA:534
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Accessory spleen, S... OMIM:268300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Ectrodactyly, ... ORPHA:2273
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Hypercholesterolemia, Oral-pharyngeal dysphagia, Diarrhea, Constip... ORPHA:273
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Tay-Sachs Disease
Pallor OMIM:272800
Cornelia De Lange Syndrome 1
Ventricular septal defect, Single transverse palmar crease, Micromelia, Proximal placement of thu... OMIM:122470
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis ORPHA:391665
Microphthalmia, Syndromic 3
Agenesis of corpus callosum, Ventricular septal defect, Anterior pituitary hypoplasia, Hypothalam... OMIM:206900
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Abnormal heart morphology ORPHA:2754
Childhood Absence Epilepsy
Pallor ORPHA:64280
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... OMIM:305600
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... OMIM:216340
Sarcoidosis
Hepatomegaly, Hemolytic anemia, Abnormal cardiac ventricular function, Hyperpigmentation of the s... ORPHA:797
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin... ORPHA:99413
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin... ORPHA:99226
Turner Syndrome
Alopecia, Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin... ORPHA:881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Muscular dystrophy, Pallor OMIM:253280
Charge Syndrome
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, Holoprosencepha... OMIM:214800
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... ORPHA:904
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... ORPHA:79318
Congenital Fibrosis Of Extraocular Muscles
Hand oligodactyly ORPHA:45358
Goodpasture Syndrome
Pallor, Anemia, Pulmonary hemorrhage OMIM:233450

Histopathology

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

There is no histopathology data for Ncoa6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ncoa6.

No publications found that use IMPC mice or data for Ncoa6.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ncoa6tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ncoa6em1(IMPC)J Indel Mice

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