Gene Summary

Name:
excision repaiross-complementing rodent repair deficiency, complementation group 8
Synonyms:
2410022P04Rik,  Csa,  4631412O06Rik,  2810431L23Rik,  B130065P18Rik,  Ckn1

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 HDL cholesterol level Ercc8em1(IMPC)H HOM Early adult 1.29×10-07
abnormal locomotor behavior Ercc8em1(IMPC)H HOM   Early adult 8.96×10-05
increased circulating cholesterol level Ercc8em1(IMPC)H HOM Early adult 2.38×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ercc8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ercc8 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ercc8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Hearing impairment, Vestibular dysfunction OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Vestibular dysfunction OMIM:613391
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 70
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 88
Hearing impairment OMIM:615429
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Metamorphopsia, Reduced visual acuity, Choroid... OMIM:608161
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Photophobia, Macular degener... OMIM:600977
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Dyschromatopsia, Photophobia, Optic atrophy,... OMIM:618977
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Macular Dystrophy, Patterned, 1
Nyctalopia, Pattern dystrophy of the retina, Dark choroid, Metamorphopsia, Choroidal neovasculari... OMIM:169150
Cone-Rod Dystrophy 17
Central scotoma, Cone/cone-rod dystrophy, Visual impairment, Photophobia, Optic disc pallor OMIM:615163
Achromatopsia 7
Macular atrophy, Absent foveal reflex, Reduced visual acuity, Central scotoma, Achromatopsia, Pho... OMIM:616517
Cone Dystrophy 3
Macular atrophy, Reduced visual acuity, Cone/cone-rod dystrophy, Progressive visual loss, Photoph... OMIM:602093
Retinal Cone Dystrophy 1
Retinal degeneration, Cone/cone-rod dystrophy, Color vision defect, Progressive visual loss, Phot... OMIM:180020
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Tritanopia
Photophobia, Reduced visual acuity, Abnormal retinal morphology, Tritanomaly, Color vision test a... ORPHA:88629
Cone-Rod Dystrophy 13
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Photophob... OMIM:608194
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Optic Atrophy 6
Red-green dyschromatopsia, Photophobia, Optic atrophy, Visual impairment OMIM:258500
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Cone Dystrophy 4
Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment, Photophobia OMIM:613093
Cone-Rod Dystrophy 11
Macular atrophy, Photophobia, Cone/cone-rod dystrophy, Slow decrease in visual acuity, Bull's eye... OMIM:610381
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Visual ... ORPHA:179
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Reduced visual acuity, Attenuation of retinal ... ORPHA:49382
Blue Cone Monochromacy
Blue cone monochromacy, Reduced visual acuity, Myopia, Abnormality of macular pigmentation, Visua... OMIM:303700
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial mottling, Retinal pigment epithelia... OMIM:304020
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Nyctalopia, Reduced visual acuity, Attenuation of r... OMIM:614500
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Nyctalopia, Pigmentary retinopathy, Reduced visual acuit... OMIM:609913
Progressive Cone Dystrophy
Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment ORPHA:1871
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia, Bone spicule pigmentation of the retina, Rod-cone d... OMIM:600852
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dy... OMIM:610024
Choroidal Dystrophy, Central Areolar 2
Photophobia, Chorioretinal atrophy OMIM:613105
Retinitis Pigmentosa 37
Nyctalopia, Cystoid macular degeneration, Pigmentary retinopathy, Tritanomaly, Red-green dyschrom... OMIM:611131
Blue Cone Monochromatism
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Blue cone monochromacy ORPHA:16
Cone Rod Dystrophy
Nyctalopia, Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1872
Cone-Rod Dystrophy 15
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Color visio... OMIM:613660
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Nyctalopia, Central scotoma, Retinal dystrophy, Photophobia, Optic disc pallor OMIM:616079
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Reduced visual acuity, Central scotoma, Myopia, Cone/cone-rod dystrophy, Co... OMIM:300476
Cone-Rod Dystrophy 21
Macular atrophy, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Photophobia OMIM:616502
Irvan Syndrome
Tractional retinal detachment, Reduced visual acuity, Blurred vision, Vitreous floaters, Retinal ... ORPHA:209943
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Color vision defect, Photophobia, Blind-spot enlargment, ... OMIM:616732
Microphthalmia, Isolated 5
Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visual acuity, Retinal pigment epithel... OMIM:611040
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment, Retinal dystrophy OMIM:204110
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Visual impairment, Congenital stationary night blindness OMIM:610427
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Visual impairment, Blurred vision, Reduced visual acuity OMIM:204870
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy, Constriction... OMIM:610478
Achromatopsia 4
Photophobia, Achromatopsia, Visual impairment OMIM:613856
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Albinism, Oculocutaneous, Type Vi
Photophobia, Hypoplasia of the fovea, Visual impairment, Reduced visual acuity OMIM:113750
Retinitis Pigmentosa 79
Macular atrophy, Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Phot... OMIM:617460
Usher Syndrome, Type Iiib
Photophobia, Optic disc pallor, Visual impairment OMIM:614504
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Jalili Syndrome
Nyctalopia, Cone/cone-rod dystrophy, Monochromacy, Photophobia, Optic disc pallor OMIM:217080
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual impairment, Photophobia, Optic disc pallor OMIM:614186
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Leber Congenital Amaurosis 14
Nyctalopia, Reduced visual acuity, Congenital blindness, Retinal dystrophy, Photophobia, Rod-cone... OMIM:613341
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity, Abnormal foveal morphology on macular OCT, Abnormal fundus mo... ORPHA:370097
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Senile plaques, Abnormal lower motor neuron morphology, ... ORPHA:100070
Retinal Cone Dystrophy 3B
Macular atrophy, Nyctalopia, Scotoma, Myopia, Cone/cone-rod dystrophy, Photophobia OMIM:610356
Albinism, Oculocutaneous, Type V
Photophobia, Hypoplasia of the fovea OMIM:615312
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the fundus, Photophobia, Visual impairment OMIM:606952
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Depigmented fundus, Visual impairment OMIM:300650
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Leber Congenital Amaurosis 9
Nyctalopia, Attenuation of retinal blood vessels, Macular coloboma, Hypermetropia, Photophobia, O... OMIM:608553
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Macular Dystrophy, Corneal
Photophobia, Macular dystrophy OMIM:217800
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Oculocutaneous Albinism, Type Viii
Photophobia, Hypoplasia of the fovea, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin OMIM:194400
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Neovascular Glaucoma
Visual acuity test abnormality, Retinal vein occlusion, Abnormal posterior eye segment morphology... ORPHA:94058
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Nyctalopia, Mild myopia, Hypermetropia OMIM:617024
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Photophobia, High hypermetropia, Severely reduced visual ac... OMIM:613826
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Cerebral atrophy, Visual impairment, Neuronal loss in central nervous system ORPHA:204
Migraine, Familial Hemiplegic, 3
Blindness, Photophobia OMIM:609634
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, High myopia, Visual impa... OMIM:613464
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Neoplasm, Retinal telangiectasia, Cerebellar atrophy, Photophobia ORPHA:438134
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Albinism, Oculocutaneous, Type Vii
Photophobia OMIM:615179
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Cerebral cortical atrophy, Neuronal loss in central nervous system OMIM:600795
Oligocone Trichromacy
Photophobia ORPHA:75378
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Achromatopsia 3
Achromatopsia, Dyschromatopsia, Severely reduced visual acuity, High myopia, Monochromacy, Photop... OMIM:262300
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Cancer-Associated Retinopathy
Visual loss, Central scotoma, Neoplasm of the breast, Malignant genitourinary tract tumor, Parace... ORPHA:71505
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Global brain atrophy, Senile plaques, Poor visual behavior for age, Abnormality of ... ORPHA:282166
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Visual impairment, Photophobia, Optic atrophy, High h... ORPHA:1021
Retinitis Pigmentosa 25
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Constriction of peripher... OMIM:602772
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Sjogren-Larsson Syndrome
Photophobia, Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Hypertriglyceridemia, Dysmetria OMIM:606721
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Atrophy/Degeneration involving the caudate nucleus, Optic atrophy, Basal ganglia gl... ORPHA:225154
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia OMIM:208920
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Progressive night blindness, Blindness, Abnormal retinal vas... ORPHA:791
Retinitis Pigmentosa 72
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Photophobia, Peripapi... OMIM:616469
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin, Seborrheic keratos... OMIM:278760
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Abnormality of the opti... OMIM:605549
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy ORPHA:275864
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Retinitis Punctata Albescens
Macular atrophy, Nyctalopia, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Atten... ORPHA:52427
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Mucolipidosis Iv
Retinal degeneration, Cerebellar atrophy, Visual impairment, Photophobia, Optic atrophy OMIM:252650
Episodic Ataxia Type 6
Photophobia, Cerebellar atrophy, Diplopia, Reduced visual acuity ORPHA:209967
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Jalili Syndrome
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Optic a... ORPHA:1873
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision OMIM:148200
Oculocutaneous Albinism Type 1
Actinic keratosis, Reduced visual acuity, Abnormal morphology of the choroidal vasculature, Ambly... ORPHA:352731
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Myopia, Photophobia, Retinopathy, Macular degeneration ORPHA:816
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Nyctalopia, Photophobia, Retinal dystrophy OMIM:617547
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Cone-Rod Dystrophy 10
Nyctalopia, Cone/cone-rod dystrophy, Peripheral visual field loss, Progressive visual loss, Photo... OMIM:610283
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, Cerebellar at... OMIM:215470
Mohr-Tranebjaerg Syndrome
Reduced visual acuity, Myopia, Cerebral visual impairment, Constriction of peripheral visual fiel... OMIM:304700
Idiopathic Intracranial Hypertension
Visual loss, Diplopia, Scintillating scotoma, Papilledema, Blurred vision, Photophobia ORPHA:238624
Corneal Dystrophy, Reis-Bucklers Type
Photophobia OMIM:608470
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Photophobia, Melanoma ORPHA:90342
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Oculocutaneous Albinism Type 5
Photophobia, Reduced visual acuity, Ocular albinism, Abnormal fundus morphology, Hypoplasia of th... ORPHA:370091
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Defective DNA repair after ultraviolet radiation damage, Squamous cell carc... OMIM:278740
Axial Spondylometaphyseal Dysplasia
Photophobia, Optic atrophy, Rod-cone dystrophy, Visual impairment ORPHA:168549
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Elevated alpha-fetoprotein, Ataxia, Hypoalbuminemia, Elevated cir... ORPHA:64753
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... ORPHA:364055
Thiel-Behnke Corneal Dystrophy
Slow decrease in visual acuity, Photophobia ORPHA:98960
Albinism, Ocular, Type I
Photophobia, Depigmented fundus, Ocular albinism, Visual impairment OMIM:300500
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Posterior Cortical Atrophy
Color vision defect, Photophobia, Cerebral visual impairment, Abnormality of vision ORPHA:54247
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Reduced visual acuity, Ocular albinism, Optic nerve misrouti... ORPHA:79435
Vernal Keratoconjunctivitis
Pruritus, Photophobia ORPHA:70476
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Myopia, Ocular albinism, Visual impairment, Photophobia, Hypoplasia ... ORPHA:54
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Photophobia, Optic disc pallor, Reduced visual acuity OMIM:618527
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Cutaneous melanoma, Defective DNA repair after ultraviolet radiation damage... OMIM:278720
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Hemeralopia, Dyschromatopsia, Visual impairment, Photophobia, Macular degeneration OMIM:617236
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Reduced visual acuity, Recurrent bacterial skin infect... OMIM:214500
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Visual loss, Abnormality of retinal pigmentation, Nyctalopia, ... ORPHA:5
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Global brain atrophy, Caudate atrophy, Absent brainstem auditory response... ORPHA:52368
Corneodermatoosseous Syndrome
Erythroderma, Photophobia OMIM:122440
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Cone-Rod Dystrophy 6
Macular atrophy, Reduced visual acuity, Hemeralopia, Progressive night blindness, Cone/cone-rod d... OMIM:601777
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Abnormality of retinal pigmentation, Abnormality of the optic nerve, Squamo... ORPHA:79434
Migraine With Or Without Aura, Susceptibility To, 12
Photophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Photophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Photophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Photophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Photophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Photophobia OMIM:607498
Migraine Without Aura, Susceptibility To, 4
Photophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Photophobia OMIM:607508
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia OMIM:607516
Babesiosis
Hemolytic anemia, Thrombocytopenia, Leukopenia, Splenomegaly, Photophobia ORPHA:108
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Ocular albinism, Visual impairment ORPHA:1000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Visual loss, Gliosis, Cerebellar atrophy, Cerebral visual impairment, Cerebral cort... OMIM:203700
Idiopathic Panuveitis
Vitreous haze, Reduced visual acuity, Abnormality of vision, Vitreous snowballs, Epiretinal membr... ORPHA:280921
Cataract 2, Multiple Types
Amblyopia, Photophobia, Visual impairment OMIM:604307
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Thrombocytopenia, Leukopenia, Photophobia ORPHA:83313
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Hermansky-Pudlak Syndrome 6
Absent foveal reflex, Reduced visual acuity, Ocular albinism, Macular hypoplasia, Photophobia, Ab... OMIM:614075
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Acute hyperammonemia, Hypertriglyceridemia, Hypo... ORPHA:247585
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hyperactivity OMIM:182290
De Sanctis-Cacchione Syndrome
Photophobia, Cerebellar atrophy, Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278800
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Myopia, Photophobia OMIM:242150
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Xeroderma Pigmentosum, Complementation Group A
Photophobia, Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278700
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Lymphedema-Distichiasis Syndrome
Webbed neck, Fibrosarcoma, Patent ductus arteriosus, Photophobia, Recurrent skin infections ORPHA:33001
Flotch Syndrome
Photophobia, Neoplasm of the skin ORPHA:2045
Episodic Ataxia, Type 6
Photophobia, Diplopia OMIM:612656
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Ocular albinism, Abnormality of the optic nerve, Squamous cell carcinoma of... ORPHA:79431
Laron Syndrome
Hypercholesterolemia ORPHA:633
Rift Valley Fever
Abnormal retinal artery morphology, Visual loss, Scotoma, Photophobia, Retinopathy, Hemianopia ORPHA:319251
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Visual loss, Nyctalopia, Myopia, Cone/cone-rod dystrophy, Color vision defect, Peripheral visual ... ORPHA:85167
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Photophobia OMIM:612843
Achromatopsia 2
Blindness, Hemeralopia, Achromatopsia, Photophobia OMIM:216900
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Trichothiodystrophy
Diffuse cerebellar atrophy, Increased mean corpuscular hemoglobin concentration, Photophobia, Def... ORPHA:33364
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Photophobia OMIM:308800
Hermansky-Pudlak Syndrome 11
Reduced visual acuity, Ocular albinism, Reduced platelet dense granules, Photophobia, Hypoplasia ... OMIM:619172
Chédiak-Higashi Syndrome
Skin rash, Vacuolated lymphocytes, Recurrent bacterial skin infections, Neutropenia, Pancytopenia... ORPHA:167
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Meningococcal Meningitis
Skin rash, Papilledema, Photophobia ORPHA:33475
Scrub Typhus
Skin rash, Photophobia, Splenomegaly ORPHA:83317
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Reduced visual acuity, Neutropenia, Ocular albinism, Thrombocytopenia, ... OMIM:608233
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Hartnup Disease
Skin rash, Photophobia, Abnormality of vision ORPHA:2116
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Mucolipidosis Type Iv
Photophobia, Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Xeroderma Pigmentosum, Complementation Group D
Photophobia, Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278730
Cockayne Syndrome Type 3
Astrocytosis, Retinal atrophy, Hypermetropia, Retinal degeneration, Retinal dystrophy, Brain atro... ORPHA:90324
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Abnormality of retinal pigmentation, Reduced visual acuity, Cutaneous melan... ORPHA:79432
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma, Photophobia OMIM:278750
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Autoimmune Polyendocrinopathy Type 1
Photophobia, Chronic mucocutaneous candidiasis, Visual impairment ORPHA:3453
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Photophobia, Laryngeal papilloma OMIM:617388
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Dyschromatopsia, Brain atr... ORPHA:251004
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Photophobia, Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610319
Postorgasmic Illness Syndrome
Photophobia, Blurred vision ORPHA:279947
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Photophobia OMIM:618535
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensori... OMIM:619260
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Oculocutaneous Albinism
Basal cell carcinoma, Reduced visual acuity, Cutaneous melanoma, Ocular albinism, Hypopigmentatio... ORPHA:55
Spinocerebellar Ataxia Type 7
Visual loss, Photophobia, Reduced visual acuity, Hemeralopia, Cerebral atrophy, Cone/cone-rod dys... ORPHA:94147
Smith-Magenis Syndrome
Hypercholesterolemia, Gait disturbance, Hypertriglyceridemia, Attention deficit hyperactivity dis... ORPHA:819
Albinism, Oculocutaneous, Type Ia
Reduced visual acuity, Myopia, Ocular albinism, Visual impairment, Photophobia, Hypoplasia of the... OMIM:203100
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Epithelial Recurrent Erosion Dystrophy
Progressive visual loss, Photophobia, Blurred vision ORPHA:293381
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Photophobia, Hypochromic anemia, Ocular albinism ORPHA:2720
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Neutropenia, Reticulocytopenia, Pancyt... OMIM:600901
Bilateral Acute Depigmentation Of The Iris
Photophobia ORPHA:69736
Ocular Cystinosis
Photophobia, Visual impairment ORPHA:411641
Idiopathic Anterior Uveitis
Photophobia, Increased cup-to-disc ratio, Macular edema, Blurred vision ORPHA:280914
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Posterior Polymorphous Corneal Dystrophy
Reduced visual acuity, Very low visual acuity, Blurred vision, Amblyopia, Chorioretinal degenerat... ORPHA:98973
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Neutropenia, Reticulocytopenia, Pancyt... OMIM:227650
Corneal Dystrophy, Thiel-Behnke Type
Photophobia OMIM:602082
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Paroxysmal Hemicrania
Photophobia ORPHA:157835
Pituitary Apoplexy
Diplopia, Reduced visual acuity, Blurred vision, Bitemporal hemianopia, Normochromic anemia, Abno... ORPHA:95613
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Aganglionic megacolon, Photophobia, Brain atrophy OMIM:308205
Trichothiodystrophy 1, Photosensitive
Erythroderma, Basal cell carcinoma, Photophobia, Squamous cell carcinoma OMIM:601675
Lyme Disease
Photophobia, Amaurosis fugax ORPHA:91546
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Myopia, Neutropenia, Ocular albinism, Abnormality of the optic nerve, Ambly... ORPHA:79430
Infantile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Blindness, Optic atrophy, Decreased ... ORPHA:206436
Ichthyosis, Congenital, Autosomal Recessive 11
Photophobia OMIM:602400
Alacrima, Congenital, Autosomal Recessive
Photophobia OMIM:601549
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Diffuse cerebral atrophy ORPHA:3240
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Blindness, Photophobia, Recurrent bacterial skin infections, Squamous cell carcinoma OMIM:148210
Hereditary Mucoepithelial Dysplasia
Photophobia ORPHA:1839
Alstrom Syndrome
Visual loss, Pigmentary retinopathy, Cone/cone-rod dystrophy, Blindness, Constriction of peripher... OMIM:203800
Chiari Malformation Type I
Photophobia, Diplopia OMIM:118420
Cystinosis
Photophobia, Retinopathy, Visual impairment ORPHA:213
Ataxia-Telangiectasia-Like Disorder 2
Photophobia, Cerebellar atrophy, Neurodegeneration OMIM:615919
Supranuclear Palsy, Progressive, 2
Diplopia, Gliosis, Blurred vision, Granulovacuolar degeneration, Photophobia, Neuronal loss in ce... OMIM:609454
Lattice Corneal Dystrophy Type I
High myopia, Slow decrease in visual acuity, Visual loss, Photophobia ORPHA:98964
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Ermine Phenotype
Photophobia, Ocular albinism ORPHA:999
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Pontocerebellar atrophy, Facial palsy ORPHA:258
Mucoepithelial Dysplasia, Hereditary
Blindness, Photophobia, Eosinophilia, Chronic mucocutaneous candidiasis OMIM:158310
Amoebiasis Due To Free-Living Amoebae
Pustule, Increased red blood cell count, Visual loss, Diplopia, Unusual skin infection, Granuloma... ORPHA:68
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin l... ORPHA:90674
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Neutropenia, Reticulocytopenia, Pancyt... OMIM:227645
Supranuclear Palsy, Progressive, 1
Diplopia, Gliosis, Blurred vision, Granulovacuolar degeneration, Photophobia, Neuronal loss in ce... OMIM:601104
Sunct Syndrome
Photophobia ORPHA:57145
Acrodermatitis Enteropathica
Pustule, Photophobia, Cerebral cortical atrophy, Visual impairment ORPHA:37
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Myopia, Thrombocytopenia, Amaurosis fugax, Photophobia ORPHA:340
Cockayne Syndrome Type 1
Pigmentary retinopathy, Absent brainstem auditory responses, Anemia, Visual impairment, Abnormali... ORPHA:90321
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... OMIM:609136
Cockayne Syndrome Type 2
Photophobia, Visual impairment ORPHA:90322
Leukonychia Totalis
Photophobia, Adenoma sebaceum ORPHA:2387
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Xeroderma Pigmentosum
Thin skin, Neoplasm, Neoplasm of the eye, Melanoma, Cerebral cortical atrophy, Photophobia, Optic... ORPHA:910
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Neutropenia,... OMIM:227646
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Polycythemia, Splenomegaly ORPHA:309854
Coccidioidomycosis
Folliculitis, Skin rash, Pruritus, Photophobia, Abnormal retinal morphology, Granuloma, Blurred v... ORPHA:228123
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypermetropia, Anemia, Squamous cell carcinoma of the skin, Photophobia, Recurrent skin infections ORPHA:79396
Kid Syndrome
Recurrent bacterial skin infections, Aganglionic megacolon, Neoplasm, Squamous cell carcinoma of ... ORPHA:477
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials, Cerebellar atrophy OMIM:193700
Cockayne Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Gliosis, Pigmentary retinopathy, Hypermetro... ORPHA:191
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Atrophy of the spinal cord, Abnormal auto... ORPHA:99027
Clouston Syndrome
Photophobia OMIM:129500
Lymphedema-Distichiasis Syndrome
Photophobia, Patent ductus arteriosus OMIM:153400
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Absent brainstem auditory responses, Sensorineural hearing impairme... ORPHA:101085
Cystinosis, Adult Nonnephropathic
Photophobia OMIM:219750
Arnold-Chiari Malformation Type I
Diplopia, Photophobia, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnor... ORPHA:268882
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Photophobia, Visual loss, Visual impairment OMIM:301220
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Leukocytosis, Abnormal autonomic nervous system physiology, Th... ORPHA:297
Cogan Syndrome
Thrombocytosis, Reduced visual acuity, Leukocytosis, Blindness, Anemia, Photophobia ORPHA:1467
Ifap Syndrome 2
Photophobia OMIM:619016
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Limbal Stem Cell Deficiency
Photophobia, Reduced visual acuity ORPHA:171673
Blau Syndrome
Skin rash, Visual loss, Abnormal cranial nerve morphology, Retrobulbar optic neuritis, Abnormalit... ORPHA:90340
Classic Progressive Supranuclear Palsy Syndrome
Photophobia, Blurred vision ORPHA:240071
Intellectual Disability, Buenos-Aires Type
Photophobia ORPHA:3079
Tyrosinemia Type 2
Photophobia, Visual loss ORPHA:28378
Reversible Cerebral Vasoconstriction Syndrome
Photophobia, Blurred vision ORPHA:284388
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Lethargy, ... ORPHA:470
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Chikungunya
Skin rash, Pruritus, Maculopapular exanthema, Crusting erythematous dermatitis, Photophobia, Eryt... ORPHA:324625
Macular Corneal Dystrophy
Photophobia, Severely reduced visual acuity ORPHA:98969
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Abnormality of retinal pigmentation, Renal tubular epithelial necrosis, Reduced hemato... ORPHA:91500
Gapo Syndrome
Photophobia, Optic atrophy OMIM:230740
Encephalitis Lethargica
Photophobia, Diplopia ORPHA:83600
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Visual impairment, Anemia, Photophobia ORPHA:36426
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Yellow Fever
Photophobia ORPHA:99829
Congenital Tufting Enteropathy
Optic disc coloboma, Photophobia ORPHA:92050
Toxic Epidermal Necrolysis
Visual loss, Neutropenia, Thrombocytopenia, Anemia, Photophobia ORPHA:537
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Chorioretinal coloboma, Cerebellar atrophy, Hypermetropia, Photophobia, Optic atrophy OMIM:210730
Hidrotic Ectodermal Dysplasia
Photophobia ORPHA:189
Cystinosis, Nephropathic
Pigmentary retinopathy, Reduced visual acuity, Retinal pigment epithelial mottling, Cerebral atro... OMIM:219800
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Low-set ears, Posteriorly rotated ears, Ab... ORPHA:171929
Reactive Arthritis
Pustule, Photophobia ORPHA:29207
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Photophobia OMIM:609944
Amoebic Keratitis
Photophobia, Abnormal posterior eye segment morphology ORPHA:67043
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Odontoonychodermal Dysplasia
Photophobia OMIM:257980
Behçet Disease
Retrobulbar optic neuritis, Optic neuritis, Blindness, Splenomegaly, Photophobia, Retinopathy, Acne ORPHA:117
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormal motor evoked potentials, Cerebellar atrophy, Abnormal auditory evo... ORPHA:909
Eec Syndrome
Hypoplasia of the thymus, Photophobia, Lymphoma ORPHA:1896
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Infantile Nephropathic Cystinosis
Photophobia, Pigmentary retinopathy ORPHA:411629
Cockayne Syndrome A
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:216400
Alacrima, Congenital, Autosomal Dominant
Photophobia OMIM:103420
Cockayne Syndrome B
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:133540
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokale... ORPHA:534
Corneal Dystrophy, Posterior Polymorphous, 1
Photophobia OMIM:122000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Visual loss, Renal tubular epithelial necrosis, Neutropenia, Blindness, Anemia, Photop... ORPHA:95455
Sarcoidosis, Susceptibility To, 1
Blurred vision, Chorioretinitis, Pancytopenia, Optic neuropathy, Splenomegaly, Photophobia OMIM:181000
Isolated Congenital Alacrima
Photophobia ORPHA:91416
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Photophobia, Aganglionic megacolon, Myopia, Subcortical cerebral atrophy, Cerebral cortical atrop... ORPHA:2273
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Gait disturbance, Falls ORPHA:273
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Thin skin, Photophobia OMIM:129900
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Juvenile Nephropathic Cystinosis
Photophobia ORPHA:411634
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Photophobia OMIM:604292
Chronic Graft Versus Host Disease
Pancytopenia, Photophobia ORPHA:99921
Alström Syndrome
Visual loss, Visual field defect, Retinal pigment epithelial atrophy, Retinal dystrophy, Cone/con... ORPHA:64
Uv-Sensitive Syndrome 2
OMIM:614621

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 Ercc8

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 Ercc8.

No publications found that use IMPC mice or data for Ercc8.

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MGI Allele Allele Type Produced
Ercc8tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ercc8em1(IMPC)H Exon Deletion Mice

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