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Gene: Ercc8 MGI:1919241

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating HDL cholesterol level Ercc8em1(IMPC)H HOM Early adult 1.23×10-07
abnormal locomotor behavior Ercc8em1(IMPC)H HOM   Early adult 6.63×10-05
increased circulating cholesterol level Ercc8em1(IMPC)H HOM Early adult 2.46×10-09

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

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 predicted to be associated to Ercc8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment 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
Facial palsy, Hearing impairment OMIM:604185
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
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 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
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
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Macular Dystrophy, Patterned, 1
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:169150
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... OMIM:600977
Optic Atrophy 12
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... OMIM:618977
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... OMIM:620342
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Photophobia, Visual impairment OMIM:615163
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... OMIM:180020
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... OMIM:616517
Prolonged Electroretinal Response Suppression 2
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... OMIM:620344
Optic Atrophy 6
Photophobia, Red-green dyschromatopsia, Optic atrophy, Visual impairment OMIM:258500
Tritanopia
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... ORPHA:88629
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Achromatopsia
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... ORPHA:49382
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... OMIM:610381
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Birdshot Chorioretinopathy
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... ORPHA:179
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... OMIM:303700
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... OMIM:600852
Progressive Cone Dystrophy
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect ORPHA:1871
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... OMIM:617879
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... OMIM:616079
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Photophobia, Visual impairment, Attenuation of retinal... OMIM:614504
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... OMIM:613660
Choroidal Dystrophy, Central Areolar 2
Photophobia, Chorioretinal atrophy OMIM:613105
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Blue Cone Monochromatism
Blue cone monochromacy, Abnormality of retinal pigmentation, Photophobia, Visual impairment ORPHA:16
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... OMIM:300476
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... OMIM:610478
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Retinal dystrophy, Visual impairment OMIM:204110
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:204100
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia ORPHA:94124
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Congenital stationary night blindness, Photophobia, Visual impairment, Color vision defect OMIM:610427
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia OMIM:607250
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Achromatopsia 4
Photophobia, Achromatopsia, Visual impairment OMIM:613856
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Leber Congenital Amaurosis 16
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... OMIM:614186
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness, Phonophobia OMIM:609634
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... OMIM:613341
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Hyperorality, Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis OMIM:600795
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Reduced visual acuity, Photophob... ORPHA:330058
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea, Photophobia OMIM:615312
Oculocutaneous Albinism Type 6
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... ORPHA:370097
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment, Hypopigmentation of the fundus OMIM:606952
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment, Depigmented fundus OMIM:300650
Leber Congenital Amaurosis 1
Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig... OMIM:204000
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Macular Dystrophy, Corneal
Photophobia, Macular dystrophy OMIM:217800
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... ORPHA:94058
Retinal Cone Dystrophy 3A
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Visual impairment ORPHA:204
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Retinal telangiectasia, Photophobia, Neoplasm, Neurodegeneration ORPHA:438134
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Progressive cer... OMIM:277460
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuation of retinal blood ves... OMIM:613826
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
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Achromatopsia 3
Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe... OMIM:262300
Keratoendotheliitis Fugax Hereditaria
Epiretinal membrane, Photophobia, Blurred vision OMIM:148200
Oligocone Trichromacy
Photophobia ORPHA:75378
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Hyperorality, Astrocytosis ORPHA:275864
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... OMIM:300424
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Episodic Ataxia Type 6
Cerebellar atrophy, Diplopia, Reduced visual acuity, Photophobia, Phonophobia ORPHA:209967
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... OMIM:270200
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Squamous cell carc... OMIM:278760
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Central nervous system degeneration, Abnormality of vision, Abnormal autonomic nerv... ORPHA:282166
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Optic atrophy, Atrophy/Degeneration involving the caudate nucleus, Astrocy... ORPHA:225154
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Photophobia, High hypermetropia, Visua... ORPHA:1021
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Visual loss, Photophobia, Retinal hemorrhage OMIM:180000
Cancer-Associated Retinopathy
Vitritis, Photophobia, Prostate cancer, Neoplasm of the breast, Pancreatic adenocarcinoma, Retina... ORPHA:71505
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... ORPHA:52427
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ... ORPHA:1873
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment OMIM:252650
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Spinocerebellar atrophy, Photopho... OMIM:215470
Migraine With Or Without Aura, Susceptibility To, 12
Photophobia, Phonophobia OMIM:611706
Migraine With Or Without Aura, Susceptibility To, 1
Photophobia, Phonophobia OMIM:157300
Migraine With Or Without Aura, Susceptibility To, 10
Photophobia, Phonophobia OMIM:610208
Migraine With Or Without Aura, Susceptibility To, 11
Photophobia, Phonophobia OMIM:610209
Migraine With Or Without Aura, Susceptibility To, 2
Photophobia, Phonophobia OMIM:300125
Migraine With Or Without Aura, Susceptibility To, 3
Photophobia, Phonophobia OMIM:607498
Migraine Without Aura, Susceptibility To, 4
Photophobia, Phonophobia OMIM:607501
Migraine With Or Without Aura, Susceptibility To, 5
Photophobia, Phonophobia OMIM:607508
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Sjögren-Larsson Syndrome
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy ORPHA:816
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... ORPHA:352731
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... OMIM:304700
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia, Phonophobia OMIM:607516
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Idiopathic Intracranial Hypertension
Papilledema, Scintillating scotoma, Diplopia, Visual loss, Photophobia, Blurred vision ORPHA:238624
Leber Congenital Amaurosis 15
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... OMIM:613843
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
Xeroderma Pigmentosum Variant
Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Posterior Cortical Atrophy
Abnormality of vision, Photophobia, Color vision defect, Cerebral visual impairment ORPHA:54247
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Brain neoplasm, Temporal cortical atrophy, Astrocytosis, ... ORPHA:100070
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage, Photophobia, Melanoma, Basal cell carcin... OMIM:278740
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Episodic Ataxia, Type 6
Cerebellar atrophy, Photophobia, Diplopia, Phonophobia OMIM:612656
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... ORPHA:370091
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Photophobia, Eczema OMIM:618535
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Albinism, Ocular, Type I
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia OMIM:300500
Vernal Keratoconjunctivitis
Pruritus, Photophobia ORPHA:70476
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
Albinism, Oculocutaneous, Type Vii
Photophobia, High hypermetropia, Reduced visual acuity OMIM:615179
Corneal Dystrophy, Congenital Stromal
Photophobia, Progressive visual loss OMIM:610048
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... OMIM:216900
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment OMIM:617236
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu... ORPHA:79435
Oculopharyngodistal Myopathy 3
Photophobia, Pigmentary retinopathy OMIM:619473
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Photophobia, Basal cell carcinoma, Squam... OMIM:278720
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm, Visual impairment OMIM:310465
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Myopia, Ocular albinism, Photophobia, Neoplasm of the skin, Visual impai... ORPHA:54
Idiopathic Panuveitis
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... ORPHA:280921
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... OMIM:214500
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Photophobia, Basal cell carcinoma, ... ORPHA:79434
Supranuclear Palsy, Progressive, 1
Diplopia, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Photophobia, Gliosis, Sen... OMIM:601104
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Babesiosis
Hemolytic anemia, Splenomegaly, Photophobia, Leukopenia, Thrombocytopenia ORPHA:108
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... OMIM:615558
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Photophobia, Leukopenia, Thrombocytopenia ORPHA:83313
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Ocular albinism, Visual impairment ORPHA:1000
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Flotch Syndrome
Photophobia, Neoplasm of the skin ORPHA:2045
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Patent ductus arteriosus, Photophobia, Webbed neck, Fibrosarcoma ORPHA:33001
Laron Syndrome
Hypercholesterolemia ORPHA:633
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... ORPHA:168549
Hermansky-Pudlak Syndrome 6
Amblyopia, Ocular albinism, Absent foveal reflex, Reduced visual acuity, Photophobia, Macular hyp... OMIM:614075
Cataract 2, Multiple Types
Photophobia, Visual impairment, Amblyopia OMIM:604307
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Photophobia OMIM:602400
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Photophobia, Basal cell carcinoma, Abnormal optic nerve... ORPHA:79431
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... ORPHA:263479
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Photophobia, Myopia, Cerebral atrophy, Erythroderma OMIM:242150
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Photophobia, Folliculitis OMIM:612843
Trichothiodystrophy
Congenital exfoliative erythroderma, Myopia, Eczema, Retinal degeneration, Increased mean corpusc... ORPHA:33364
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Corneal Dystrophy, Reis-Bucklers Type
Photophobia, Reduced visual acuity OMIM:608470
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Photophobia, Folliculitis OMIM:308800
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Photophobia, Neutropenia, Abnormal natural killer cell morphology, Hepato... ORPHA:167
Meningococcal Meningitis
Photophobia, Papilledema, Skin rash ORPHA:33475
Hartnup Disease
Abnormality of vision, Photophobia, Skin rash ORPHA:2116
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splenomegaly, Retinal hemorrhage, Hypermet... ORPHA:90324
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, Brain atrophy, High myopia OMIM:614457
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Mucolipidosis Type Iv
Photophobia, Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Reduced platelet dense granules,... OMIM:619172
Scrub Typhus
Photophobia, Splenomegaly, Skin rash ORPHA:83317
Xeroderma Pigmentosum, Complementation Group D
Photophobia, Melanoma, Defective DNA repair after ultraviolet radiation damage OMIM:278730
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Photophobia, Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Facial palsy OMIM:256850
Cystinosis, Adult Nonnephropathic
Photophobia, Abnormal retinal morphology OMIM:219750
Autoimmune Polyendocrinopathy Type 1
Photophobia, Visual impairment, Chronic mucocutaneous candidiasis ORPHA:3453
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Fanconi Anemia, Complementation Group E
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... OMIM:600901
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Splenomegaly, Ocular albinism, Reduced ... OMIM:608233
Gelatinous Drop-Like Corneal Dystrophy
Photophobia, Reduced visual acuity, Blurred vision ORPHA:98957
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Reduced visual acuity, Photophobia,... ORPHA:79432
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral visual impairment, Visual loss, Cerebral cortical neurodegeneration,... OMIM:203700
Chiari Malformation Type I
Photophobia, Diplopia, Hyperacusis OMIM:118420
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Photophobia, Laryngeal papilloma OMIM:617388
Paternal Uniparental Disomy Of Chromosome 1
Photophobia, Abnormal retinal morphology on macular OCT, Dyschromatopsia, Progressive visual loss... ORPHA:251004
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance ORPHA:819
Fanconi Anemia, Complementation Group A
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... OMIM:227650
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Paroxysmal Hemicrania
Photophobia, Phonophobia ORPHA:157835
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Cereb... ORPHA:94147
Xeroderma Pigmentosum, Variant Type
Photophobia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Photophobia, Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity OMIM:618527
Kleine-Levin Syndrome
Photophobia, Blurred vision ORPHA:33543
Rift Valley Fever
Skin rash, Retinitis, Scotoma, Retinal hemorrhage, Reduced visual acuity, Macular edema, Anemia, ... ORPHA:319251
Postorgasmic Illness Syndrome
Photophobia, Blurred vision ORPHA:279947
Bilateral Acute Depigmentation Of The Iris
Photophobia ORPHA:69736
Ocular Cystinosis
Photophobia, Visual impairment ORPHA:411641
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Neuhauser Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Epithelial Recurrent Erosion Dystrophy
Photophobia, Progressive visual loss, Blurred vision ORPHA:293381
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne... ORPHA:206436
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Corneal Dystrophy, Thiel-Behnke Type
Photophobia OMIM:602082
Fanconi Anemia, Complementation Group C
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... OMIM:227645
Xfe Progeroid Syndrome
Blindness, Optic atrophy, Defective DNA repair after ultraviolet radiation damage, Visual impairm... OMIM:610965
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Cystinosis
Photophobia, Retinopathy, Visual impairment ORPHA:213
Posterior Polymorphous Corneal Dystrophy
Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia... ORPHA:98973
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Facial palsy, Astrocytosis ORPHA:258
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Recurrent bacterial skin infections, Blindness, Squamous cell carcinoma OMIM:148210
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Ocular albinism, Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa... OMIM:203100
Alacrima, Congenital, Autosomal Recessive
Photophobia OMIM:601549
Lattice Corneal Dystrophy Type I
Photophobia, Visual loss, High myopia, Slow decrease in visual acuity ORPHA:98964
Pituitary Apoplexy
Bitemporal hemianopia, Abnormal static automated perimetry test, Diplopia, Pituitary adenoma, Red... ORPHA:95613
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Alstrom Syndrome
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph... OMIM:203800
Supranuclear Palsy, Progressive, 2
Diplopia, Granulovacuolar degeneration, Photophobia, Gliosis, Neuronal loss in central nervous sy... OMIM:609454
De Sanctis-Cacchione Syndrome
Axonal degeneration, Optic atrophy, Defective DNA repair after ultraviolet radiation damage, Cere... OMIM:278800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Hereditary Mucoepithelial Dysplasia
Photophobia ORPHA:1839
Trichothiodystrophy 1, Photosensitive
Photophobia, Basal cell carcinoma, Squamous cell carcinoma, Erythroderma OMIM:601675
Acrodermatitis Enteropathica
Pustule, Photophobia, Cerebral cortical atrophy, Visual impairment ORPHA:37
Lyme Disease
Photophobia, Amaurosis fugax ORPHA:91546
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Ocular albinism, Photophobia, Basal cell carcinoma, Abnormal optic nerve morph... ORPHA:79430
Fanconi Anemia, Complementation Group D2
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus, Reti... OMIM:227646
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... OMIM:278700
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Ermine Phenotype
Photophobia, Ocular albinism ORPHA:999
Lujo Hemorrhagic Fever
Skin rash, Maculopapular exanthema, Leukocytosis, Photophobia, Leukopenia, Lymphopenia, Thrombocy... ORPHA:319213
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Unusual skin infection, Blindness, Facial palsy, Pustule, Visual loss, Diplo... ORPHA:68
Reversible Cerebral Vasoconstriction Syndrome
Photophobia, Phonophobia, Blurred vision ORPHA:284388
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Anemia, Pigmentary retinopathy, Photophobia, ... ORPHA:90321
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Astrocytosis ORPHA:309854
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Sunct Syndrome
Photophobia ORPHA:57145
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness, Eosinophilia, Chronic mucocutaneous candidiasis OMIM:158310
Congenital Microcoria
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision ORPHA:566
Xeroderma Pigmentosum
Optic atrophy, Photophobia, Melanoma, Neoplasm, Thin skin, Papilloma, Neoplasm of the eye, Cerebr... ORPHA:910
Granular Corneal Dystrophy Type I
Photophobia, Reduced visual acuity, Visual impairment ORPHA:98962
Cockayne Syndrome Type 2
Photophobia, Visual impairment ORPHA:90322
Coccidioidomycosis
Skin rash, Abscess, Eosinophilia, Abnormal retinal morphology, Pruritus, Erythema nodosum, Abnorm... ORPHA:228123
Lymphedema-Distichiasis Syndrome
Photophobia, Patent ductus arteriosus, Webbed neck OMIM:153400
Leukonychia Totalis
Photophobia, Adenoma sebaceum ORPHA:2387
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Photophobia, Neurodegeneration OMIM:615919
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Blau Syndrome
Clear cell renal cell carcinoma, Skin rash, Facial palsy, Erythema nodosum, Splenomegaly, Retrobu... ORPHA:90340
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
Congenital Tufting Enteropathy
Photophobia, Optic disc coloboma ORPHA:92050
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness OMIM:203300
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Ifap Syndrome 2
Photophobia OMIM:619016
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Hypermetropia, Photophobia, Squamous cell carcinoma of the skin, Anemia ORPHA:79396
Clouston Syndrome
Photophobia OMIM:129500
Miller Fisher Syndrome
Photophobia, Diplopia, Facial palsy, Blurred vision ORPHA:98919
Limbal Stem Cell Deficiency
Photophobia, Reduced visual acuity ORPHA:171673
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Photophobia, Visual loss, Visual impairment OMIM:301220
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ... ORPHA:79098
Mucopolysaccharidosis, Type Vii
Photophobia, Splenomegaly, Neurodegeneration, Visual impairment OMIM:253220
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Arnold-Chiari Malformation Type I
Cranial nerve compression, Diplopia, Abnormality of the vestibulocochlear nerve, Abnormality of t... ORPHA:268882
Classic Progressive Supranuclear Palsy Syndrome
Photophobia, Blurred vision ORPHA:240071
Intellectual Disability, Buenos-Aires Type
Photophobia ORPHA:3079
Tick-Borne Encephalitis
Facial palsy, Leukocytosis, Photophobia, Leukopenia, Abnormal glossopharyngeal nerve morphology, ... ORPHA:297
Cogan Syndrome
Blindness, Leukocytosis, Reduced visual acuity, Photophobia, Thrombocytosis, Anemia ORPHA:1467
Tyrosinemia Type 2
Photophobia, Visual loss ORPHA:28378
Macular Corneal Dystrophy
Photophobia, Severely reduced visual acuity ORPHA:98969
Tooth Agenesis, Selective, 4
Photophobia, Thin skin OMIM:150400
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Skin rash, Choroidal neovasc... ORPHA:91500
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Phacoanaphylactic Uveitis
Visual loss, Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macular edema, Phot... ORPHA:209959
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Encephalitis Lethargica
Photophobia, Diplopia ORPHA:83600
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Photophobia, Visual impairment, Anemia ORPHA:36426
Chikungunya
Skin rash, Maculopapular exanthema, Pruritus, Erythema nodosum, Crusting erythematous dermatitis,... ORPHA:324625
Gapo Syndrome
Retinal arteriolar tortuosity, Photophobia, Optic atrophy, Facial palsy OMIM:230740
Toxic Epidermal Necrolysis
Visual loss, Photophobia, Anemia, Neutropenia, Thrombocytopenia ORPHA:537
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Cerebellar atrophy, Optic atrophy, Hypermetropia, Photophobia, Chorioretinal coloboma OMIM:210730
Amoebic Keratitis
Photophobia, Abnormal posterior eye segment morphology ORPHA:67043
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Behçet Disease
Blindness, Acne, Splenomegaly, Retrobulbar optic neuritis, Photophobia, Optic neuritis, Retinopathy ORPHA:117
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Reactive Arthritis
Pustule, Photophobia ORPHA:29207
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Erythema nodosum, Splenomegaly, Leukocytosis, Retinal hemorrhage, Pho... ORPHA:99827
Cystinosis, Nephropathic
Blindness, Splenomegaly, Retinal pigment epithelial mottling, Reduced visual acuity, Cerebral atr... OMIM:219800
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Photophobia OMIM:609944
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Infantile Nephropathic Cystinosis
Photophobia, Pigmentary retinopathy ORPHA:411629
Eec Syndrome
Photophobia, Lymphoma, Hypoplasia of the thymus ORPHA:1896
Corneal Dystrophy, Posterior Polymorphous, 1
Photophobia OMIM:122000
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypercholesterolemia OMIM:606721
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Blindness, Skin rash, Visual loss, Renal tubular epithelial... ORPHA:95455
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Alacrima, Congenital, Autosomal Dominant
Photophobia OMIM:103420
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Optic neuropathy, Splenomegaly, Photophobia, Chorioretinitis, Blurred vision OMIM:181000
Odontoonychodermal Dysplasia
Photophobia OMIM:257980
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Steinert Myotonic Dystrophy
Falls, Inability to walk, Gait disturbance, Hypercholesterolemia ORPHA:273
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Myopia, Aganglionic megacolon, Eczema, Photophobia, Subcortical cerebral atrophy, Cerebral cortic... ORPHA:2273
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Photophobia, Thin skin OMIM:129900
Isolated Congenital Alacrima
Photophobia ORPHA:91416
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Juvenile Nephropathic Cystinosis
Photophobia ORPHA:411634
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Recurrent skin infections, Eczema, Photophobia, Brain atrophy, Erythroderma OMIM:308205
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Photophobia ORPHA:1010
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Photophobia OMIM:604292
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Chronic Graft Versus Host Disease
Photophobia, Pancytopenia ORPHA:99921
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina... ORPHA:64
Uv-Sensitive Syndrome 2
Abnormal circulating porphyrin concentration 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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