Gene Summary

Name:
histone deacetylase 1
Synonyms:
RPD3,  HD1,  MommeD5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Hdac1tm1a(EUCOMM)Wtsi HET Early adult 2.68×10-07
decreased mean corpuscular hemoglobin Hdac1tm1b(EUCOMM)Wtsi HET Early adult 2.63×10-05
cataract Hdac1tm1b(EUCOMM)Wtsi HET Early adult 6.85×10-06
abnormal retina morphology Hdac1tm1b(EUCOMM)Wtsi HET   Early adult 2.86×10-07
abnormal retinal vasculature morphology Hdac1tm1b(EUCOMM)Wtsi HET Early adult 6.03×10-07
abnormal lens morphology Hdac1tm1b(EUCOMM)Wtsi HET Early adult 1.06×10-05
abnormal retinal blood vessel morphology Hdac1tm1b(EUCOMM)Wtsi HET Early adult 1.85×10-06
decreased exploration in new environment Hdac1tm1b(EUCOMM)Wtsi HET Early adult 8.69×10-07
cardiovascular system phenotype Hdac1tm1b(EUCOMM)Wtsi HET   Early adult 7.03×10-05
preweaning lethality, complete penetrance Hdac1tm1b(EUCOMM)Wtsi HOM   Early adult 1.79×10-08
decreased heart rate variability Hdac1tm1b(EUCOMM)Wtsi HET   Early adult 2.86×10-05
increased circulating HDL cholesterol level Hdac1tm1a(EUCOMM)Wtsi HET Early adult 7.88×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Legacy Phenotype Associated Images

View all 196 images

Human diseases caused by Hdac1 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 Hdac1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Bardet-Biedl Syndrome 18
Cognitive impairment, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia, Juvenile cataract OMIM:212500
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Ceroid Lipofuscinosis, Neuronal, 3
Dementia, Vacuolated lymphocytes, Psychomotor deterioration, Concentric hypertrophic cardiomyopat... OMIM:204200
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Aniridia 3
Cataract OMIM:617142
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Norrie Disease
Shallow anterior chamber, Aggressive behavior, Dementia, Hypoplasia of the iris, Cataract, Retina... OMIM:310600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Retinal deta... OMIM:212550
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Optically empty vitreous, Retinal dots, Corneal g... OMIM:193230
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Peripheral vitreoretinal degeneration, Lens subluxation OMIM:614292
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Retina... OMIM:251270
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Arrhythmia, Macular dystrophy, Hypertension, Cataract, Congest... ORPHA:225
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Alg2-Cdg
Cognitive impairment, Cataract, Iris coloboma ORPHA:79326
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseu... OMIM:177650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Trichomegaly
Cataract OMIM:190330
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy OMIM:613154
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract OMIM:613835
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cognitive impairment, Cataract, Optic atrophy, Dementia ORPHA:329314
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Astigmatism, Peripapil... OMIM:616188
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cognitive impairment, Cataract, Hypertrophic cardiomyopathy OMIM:615418
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis, Retinal detachment OMIM:614224
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler... OMIM:612109
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Hypertension, Retinal dystrophy ORPHA:3156
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Galactosemia Iv
Cataract OMIM:618881
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Anemia, Splenomegaly, Cognitive impairment, Hypersplenism, A... ORPHA:846
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Cardiomyopathy OMIM:614879
Hemochromatosis, Type 4
Cataract, Arrhythmia, Anemia, Cardiomyopathy OMIM:606069
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy, Dementia OMIM:136300
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Galactosemia Ii
Cataract OMIM:230200
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc ORPHA:65
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Peroxisome Biogenesis Disorder 8B
Cognitive impairment, Cataract, Optic atrophy, Retinal dystrophy OMIM:614877
Developmental And Epileptic Encephalopathy 35
Cataract, Irritability, Cardiomyopathy OMIM:616647
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Punctate vasculitis skin lesions, Gastrointestinal hemorrha... ORPHA:247691
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic ca... ORPHA:1345
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Subcaps... ORPHA:414
Spastic Paraplegia 5A, Autosomal Recessive
Cognitive impairment, Cataract, Optic atrophy OMIM:270800
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Retinal dystrophy OMIM:613763
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Aggressive behavior, Chorioretinal dysplasia, Retinal fold, Corneal opacit... OMIM:152950
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, Abnormal fundus mo... ORPHA:39044
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Vitreoretinopathy, Retinal detachment ORPHA:250984
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cognitive impairment, Cataract, Optic nerve hypoplasia, Retinal detachment OMIM:615181
Refsum Disease, Classic
Arrhythmia, Retinal degeneration, Cataract, Congestive heart failure, Rod-cone dystrophy, Cardiom... OMIM:266500
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Iris coloboma, Cataract, Abnormal cornea morphology, Retinopathy... ORPHA:2611
Vogt-Koyanagi-Harada Disease
Cognitive impairment, Cataract, Retinal detachment ORPHA:3437
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Cataract, Astigmatism, Bone spicule p... OMIM:615986
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-... OMIM:180105
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Laron Syndrome
Hypercholesterolemia ORPHA:633
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Irritability, Anemia, Splenomegaly, Abnormal hemoglobin, Hyp... ORPHA:848
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Phenylketonuria
Self-mutilation, Aggressive behavior, Cataract, Irritability, Anxiety, Blue irides OMIM:261600
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Thrombocyto... ORPHA:290
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment ORPHA:90653
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori... OMIM:106210
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Cataract, Optic atrophy, Dilated cardiomyopathy ORPHA:272
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Anxiety, Methemoglobinemia, Syncope ORPHA:464453
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Infantile Refsum Disease
Arrhythmia, Cataract, Optic atrophy, Rod-cone dystrophy, Cardiomyopathy ORPHA:772
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract, Hypochromic anemia OMIM:257790
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Isolated Ectopia Lentis
Ectopia lentis, Hypertension, Cataract, Ectopia pupillae, Cognitive impairment ORPHA:1885
Cataract 47
Cataract, Microcornea OMIM:612018
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Usher Syndrome Type 3
Iris hypopigmentation, Astigmatism, Cataract, Anxiety ORPHA:231183
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation ORPHA:93296
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract, Choroideremia OMIM:116600
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Srd5A3-Cdg
Microcytic anemia, Optic disc hypoplasia, Cataract, Optic atrophy, Rod-cone dystrophy ORPHA:324737
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Hb Bart'S Hydrops Fetalis
Pericarditis, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Corneal opacity, Pancytopenia, Cataract, Anxiety, Hepatosplenomegaly, Optic... ORPHA:309288
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Antiphospholipid Syndrome, Familial
Iritis, Autoimmune thrombocytopenia, Central retinal artery occlusion, Retinal vasculitis, Kerati... OMIM:107320
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cataract, Microcytic anemia, Reduced systolic function OMIM:618805
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Muscle-Eye-Brain Disease
Cognitive impairment, Cataract, Optic atrophy ORPHA:588
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Sclerocornea ORPHA:139471
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Alg8-Cdg
Cataract ORPHA:79325
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cataract, Optic atrophy, Bone spicu... OMIM:609033
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Corneal opacity, Rapid neurologic deterioration, Cataract, S... ORPHA:585
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Proximal Myotonic Myopathy
Cataract ORPHA:606
Congenital Sialidosis Type 2
Developmental cataract, Yellow/white lesions of the retina, Corneal opacity, Cataract, Hepatosple... ORPHA:93400
Classic Phenylketonuria
Self-injurious behavior, Cataract, Motor deterioration, Memory impairment, Mental deterioration ORPHA:79254
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Weill-Marchesani Syndrome
Ectopia lentis, Cataract, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation ORPHA:3449
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Aniridia 2
Cataract, Aniridia OMIM:617141
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Arrhythmia, Persistence of hemoglobin F, Decreased mean corpuscula... ORPHA:231226
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Usher Syndrome
Abnormality of retinal pigmentation, Abnormal cardiovascular system physiology, Cataract, Anxiety... ORPHA:886
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea ORPHA:2791
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnormality of the op... ORPHA:899
Beta-Thalassemia Major
Hypochromic microcytic anemia, Arrhythmia, Persistence of hemoglobin F, Decreased mean corpuscula... ORPHA:231214
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Cataract, Conjunctivitis, Irritabilit... ORPHA:36913
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, A... ORPHA:231222
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Cataract, Microcornea, Retinal dystrophy OMIM:610125
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, Abnormality of neutrophils, Ocular albinism, Cataract ORPHA:2720
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Splenomegaly, Thymus hyperplasia, Abnormal pu... ORPHA:2969
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Cerebrotendinous Xanthomatosis
Dementia, Angina pectoris, Cataract, Myocardial infarction, Optic disc pallor OMIM:213700
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... OMIM:612561
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Familial Isolated Hypoparathyroidism
Cataract, Arrhythmia ORPHA:2238
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Classic Homocystinuria
Abnormality of retinal pigmentation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Ectopi... ORPHA:394
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Agel Amyloidosis
Deficit in phonologic short-term memory, Arrhythmia, Orthostatic hypotension due to autonomic dys... ORPHA:85448
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Angina pectoris, Mitral regurgitati... ORPHA:324
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Ment... OMIM:278730
Knobloch Syndrome
Abnormal vitreous humor morphology, Ectopia lentis, Cataract, Vitreoretinopathy, Retinal detachme... ORPHA:1571
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Hypertension, Anterior lenticonus OMIM:203780
Stromme Syndrome
Accessory spleen, Iris coloboma, Cataract, Peters anomaly, Microcornea, Optic nerve hypoplasia, S... OMIM:243605
Incontinentia Pigmenti
Leukocytosis, Cataract, Keratitis, Retinal hemorrhage, Retinal detachment, Hypoplasia of the fove... OMIM:308300
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Optic atrophy, Abnormal hemoglobin, Anemia ORPHA:847
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Retinal atrophy, Lentiglobus, Subdural hemorrhage, Cardiomy... ORPHA:90324
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Tricuspid regurgitation, Reticulocytopeni... ORPHA:508542
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Developmental cataract, Pure r... ORPHA:124
Congenital Tufting Enteropathy
Corneal erosion, Optic disc coloboma, Punctate keratitis, Cataract, Irritability ORPHA:92050
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Memory impairment, Cataract, Mental deterioration, Optic atrophy ORPHA:314404
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Pigmentary retinopathy, Iris coloboma, Cataract, Sclerocornea, Histiocytoid cardiomyo... OMIM:309801
Blau Syndrome
Pericarditis, Iritis, Cystoid macular edema, Hypertension, Cataract, Band keratopathy OMIM:186580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Abnormal vitreous hum... ORPHA:649
Lead Poisoning
Hypertension, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Cognitive impa... ORPHA:330015
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Blau Syndrome
Pericarditis, Large vessel vasculitis, Retrobulbar optic neuritis, Hypertension, Abnormality of t... ORPHA:90340
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokalemia ORPHA:534
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Reduced hematocrit, Papilledema, Anterior chamber flare, Cys... ORPHA:91500
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Cataract, Iris atrophy, Absent anterior chamber of the eye OMIM:259770
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Anterior subcapsular cataract, Posterior cortical cataract, Cerulean ... ORPHA:67036
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle OMIM:227646

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 Hdac1

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 Hdac1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Hdac1tm1a(EUCOMM)Wtsi