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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 cholesterol level Ercc8em1(IMPC)H HOM Early adult 2.33×10-09
increased circulating HDL cholesterol level Ercc8em1(IMPC)H HOM Early adult 1.27×10-07
abnormal locomotor behavior Ercc8em1(IMPC)H HOM   Early adult 7.97×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, 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 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 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 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
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
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
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Optic atrophy, Optic disc pallo... OMIM:618977
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia OMIM:607250
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Cone-Rod Dystrophy 17
Photophobia, Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Visual impairment OMIM:615163
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Achromatopsia 7
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... OMIM:616517
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... OMIM:602093
Retinal Cone Dystrophy 1
Photophobia, Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visu... OMIM:180020
Tritanopia
Color vision test abnormality, Photophobia, Tritanomaly, Reduced visual acuity, Abnormal retinal ... ORPHA:88629
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Optic Atrophy 6
Optic atrophy, Visual impairment, Red-green dyschromatopsia, Photophobia OMIM:258500
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia OMIM:613093
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... ORPHA:49382
Birdshot Chorioretinopathy
Photophobia, Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macul... ORPHA:179
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity, Macular degeneration, Cone/cone-rod dystrophy, Macul... OMIM:610381
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Abnormality of macular pigmentation, Reduced visual acuity, ... OMIM:303700
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
Progressive Cone Dystrophy
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect ORPHA:1871
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... OMIM:600852
Familial Drusen
Perifoveal ring of hyperautofluorescence, Photophobia, Granular macular appearance, Abnormality o... ORPHA:75376
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... OMIM:616079
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
Choroidal Dystrophy, Central Areolar 2
Photophobia, Chorioretinal atrophy OMIM:613105
Cone Rod Dystrophy
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment ORPHA:1872
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Blue Cone Monochromatism
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Blue cone monochromacy ORPHA:16
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy OMIM:616502
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... OMIM:300476
Irvan Syndrome
Photophobia, Reduced visual acuity, Macular edema, Retinal detachment, Blurred vision, Optic atro... ORPHA:209943
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... OMIM:611040
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Color vision defect, Reduced visual acuity, Optic disc pallor, Central scotoma, Blin... OMIM:616732
Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
Photophobia, Visual impairment, Retinal dystrophy OMIM:204110
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Retinal pigment epithelial mottling, Reduce... OMIM:610478
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Photophobia, Congenital stationary night blindness, Visual impairment, Color vision defect OMIM:610427
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Blurred vision, Visual impairment OMIM:204870
Achromatopsia 4
Photophobia, Visual impairment, Achromatopsia OMIM:613856
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Hypoalbuminemia, Steppage gait, Hypercholesterolemia ORPHA:94124
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... OMIM:617460
Retinitis Pigmentosa 3
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... OMIM:300029
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Albinism, Oculocutaneous, Type Vi
Photophobia, Reduced visual acuity, Visual impairment, Hypoplasia of the fovea OMIM:113750
Jalili Syndrome
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Optic disc pallor, Monochromacy OMIM:217080
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... OMIM:204100
Usher Syndrome, Type Iiib
Photophobia, Optic disc pallor, Visual impairment OMIM:614504
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Leber Congenital Amaurosis 16
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:614186
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... OMIM:613341
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Macular atrophy, Scotoma, Myopia OMIM:610356
Bradyopsia
Photophobia, Visual impairment ORPHA:75374
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology,... ORPHA:370097
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... ORPHA:100070
Albinism, Oculocutaneous, Type V
Photophobia, Hypoplasia of the fovea OMIM:615312
Albinism, Oculocutaneous, Type Ib
Photophobia, Visual impairment, Hypopigmentation of the fundus OMIM:606952
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment, Depigmented fundus OMIM:300650
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... OMIM:613464
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Macular Dystrophy, Corneal
Photophobia, Macular dystrophy OMIM:217800
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Mild myopia, Nyctalopia OMIM:617024
Neovascular Glaucoma
Photophobia, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Visual ac... ORPHA:94058
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin OMIM:194400
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity, Chorioretinal hypopigmentation, Hypoplasia of the fovea OMIM:619165
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Leber Congenital Amaurosis 1
Photophobia, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Pigmentary ... OMIM:204000
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Attenuation of retinal blood vessels, Severely reduced visual ac... OMIM:613826
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis, Visual impairment ORPHA:204
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Reduced visual acuity, Cone dystrophy, High myopia, Dyschromatopsia OMIM:610024
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Photophobia, Neoplasm, Retinal telangiectasia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Red Skin Pigment Anomaly Of New Guinea
Photophobia OMIM:266350
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysmetria, Dysdia... OMIM:277460
Corneal Dystrophy, Fleck
Photophobia OMIM:121850
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Keratoendotheliitis Fugax Hereditaria
Photophobia, Blurred vision, Epiretinal membrane OMIM:148200
Achromatopsia 3
Photophobia, High myopia, Monochromacy, Dyschromatopsia, Achromatopsia, Severely reduced visual a... OMIM:262300
Albinism, Oculocutaneous, Type Vii
Photophobia OMIM:615179
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis OMIM:600795
Oligocone Trichromacy
Photophobia ORPHA:75378
Retinitis Pigmentosa 72
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced vis... OMIM:616469
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Epithelial Recurrent Erosion Dystrophy
Photophobia, Visual impairment OMIM:122400
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Cancer-Associated Retinopathy
Thymoma, Granular macular appearance, Constriction of peripheral visual field, Optic atrophy, Opt... ORPHA:71505
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Neuronal loss in central nervous system, Central nervous system degeneration, Abn... ORPHA:282166
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretin... OMIM:602772
Sjogren-Larsson Syndrome
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Retinal thinning, ... OMIM:270200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Elevated circulating creatine kinase concentration, Trun... OMIM:208920
Amaurosis-Hypertrichosis Syndrome
Photophobia, High hypermetropia, Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Visua... ORPHA:1021
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Basal ganglia gliosis, Astrocytosis, Atrophy/Degeneration involving the caudate nu... ORPHA:225154
Glaucoma 3, Primary Congenital, D
Photophobia OMIM:613086
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:610283
Xeroderma Pigmentosum, Complementation Group F
Brain atrophy, Keratoacanthoma, Squamous cell carcinoma, Deficient excision of UV-induced pyrimid... OMIM:278760
Retinitis Pigmentosa
Photophobia, Blindness, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology... ORPHA:791
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cone-Rod Dystrophy 6
Photophobia, Hemeralopia, Nyctalopia, Chorioretinal atrophy, Reduced visual acuity, Progressive n... OMIM:601777
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Corneal Dystrophy, Meesmann, 1
Photophobia, Reduced visual acuity OMIM:122100
Cone-Rod Dystrophy 8
Photophobia, Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degene... OMIM:605549
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis ORPHA:275864
Retinal Arteries, Tortuosity Of
Photophobia, Visual loss, Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Retinitis Punctata Albescens
Photophobia, Progressive visual field defects, Absent foveal reflex, Cystoid macular edema, Abnor... ORPHA:52427
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Episodic Ataxia Type 6
Photophobia, Reduced visual acuity, Cerebellar atrophy, Diplopia ORPHA:209967
Late-Onset Retinal Degeneration
Photophobia, Nyctalopia, Macular degeneration, Tritanomaly, Patchy atrophy of the retinal pigment... ORPHA:67042
Mucolipidosis Iv
Photophobia, Retinal degeneration, Optic atrophy, Cerebellar atrophy, Visual impairment OMIM:252650
Jalili Syndrome
Photophobia, Abnormality of retinal pigmentation, Color vision defect, Optic atrophy, Visual impa... ORPHA:1873
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Boucher-Neuhauser Syndrome
Photophobia, Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, ... OMIM:215470
Oculocutaneous Albinism Type 1
Photophobia, Actinic keratosis, Reduced visual acuity, Hypoplasia of the fovea, Amblyopia, Depigm... ORPHA:352731
Sjögren-Larsson Syndrome
Photophobia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Myopia ORPHA:816
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Corneal Dystrophy, Meesmann, 2
Photophobia OMIM:618767
Mohr-Tranebjaerg Syndrome
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Cerebral visual impa... OMIM:304700
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Central scotoma, Nyctalopia, Retinal dystrophy OMIM:617547
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Idiopathic Intracranial Hypertension
Photophobia, Diplopia, Papilledema, Blurred vision, Visual loss, Scintillating scotoma ORPHA:238624
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentr... ORPHA:64753
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... ORPHA:364055
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Thiel-Behnke Corneal Dystrophy
Photophobia, Slow decrease in visual acuity ORPHA:98960
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... OMIM:601596
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Xeroderma Pigmentosum Variant
Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Chromosome 16Q12 Duplication Syndrome
Photophobia, Nyctalopia, Tritanomaly, Retinal pigment epithelial mottling, Reduced visual acuity,... OMIM:619649
Oculocutaneous Albinism Type 5
Photophobia, Ocular albinism, Reduced visual acuity, Hypoplasia of the fovea, Abnormal fundus mor... ORPHA:370091
Xeroderma Pigmentosum, Complementation Group E
Photophobia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA r... OMIM:278740
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Posterior Cortical Atrophy
Color vision defect, Cerebral visual impairment, Abnormality of vision, Photophobia ORPHA:54247
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Photophobia ORPHA:139450
Albinism, Ocular, Type I
Photophobia, Visual impairment, Ocular albinism, Depigmented fundus OMIM:300500
Achromatopsia 2
Photophobia, Hemeralopia, Absent foveal reflex, Nyctalopia, Dull foveal reflex, Reduced visual ac... OMIM:216900
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Hemeralopia, Macular degeneration, Retinal atrophy, Visual impairment, Dyschromatopsia OMIM:617236
Corneodermatoosseous Syndrome
Photophobia, Erythroderma OMIM:122440
Oculocutaneous Albinism Type 4
Photophobia, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acuity, Hypopla... ORPHA:79435
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Vernal Keratoconjunctivitis
Photophobia, Pruritus ORPHA:70476
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
X-Linked Recessive Ocular Albinism
Photophobia, Ocular albinism, Abnormal macular morphology, Neoplasm of the skin, Hypoplasia of th... ORPHA:54
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, Chorioretinal atrophy,... ORPHA:5
Corneal Dystrophy, Congenital Stromal
Photophobia, Progressive visual loss OMIM:610048
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
Oculopharyngodistal Myopathy 3
Photophobia, Pigmentary retinopathy OMIM:619473
Chediak-Higashi Syndrome
Photophobia, Recurrent bacterial skin infections, Neutropenia, Ocular albinism, Decreased nerve c... OMIM:214500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Neuronal loss in central nervous system, Gliosis, Visual loss, Astrocytosis, Cerebellar atrophy, ... OMIM:203700
Xeroderma Pigmentosum, Complementation Group C
Photophobia, Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defec... OMIM:278720
Migraine With Or Without Aura, Susceptibility To, 6
Photophobia OMIM:607516
Oculocutaneous Albinism Type 1B
Photophobia, Abnormality of retinal pigmentation, Melanoma, Hypoplasia of the fovea, Basal cell c... ORPHA:79434
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Idiopathic Panuveitis
Photophobia, Blindness, Cystoid macular edema, Reduced visual acuity, Blurred vision, Epiretinal ... ORPHA:280921
Babesiosis
Photophobia, Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Supranuclear Palsy, Progressive, 1
Photophobia, Senile plaques, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, ... OMIM:601104
Episodic Ataxia, Type 6
Photophobia, Cerebellar atrophy, Diplopia OMIM:612656
Ocular Albinism With Late-Onset Sensorineural Deafness
Photophobia, Visual impairment, Ocular albinism ORPHA:1000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Cataract 2, Multiple Types
Photophobia, Visual impairment, Amblyopia OMIM:604307
Boutonneuse Fever
Photophobia, Skin rash, Maculopapular exanthema, Leukopenia, Thrombocytopenia ORPHA:83313
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Cog4-Cdg
Ataxia, Hypercholesterolemia ORPHA:263501
Alopecia-Intellectual Disability Syndrome
Photophobia ORPHA:2850
Axial Spondylometaphyseal Dysplasia
Photophobia, Rod-cone dystrophy, Peripheral retinal degeneration, Reduced visual acuity, Retinal ... ORPHA:168549
Hermansky-Pudlak Syndrome 6
Photophobia, Absent foveal reflex, Ocular albinism, Reduced visual acuity, Amblyopia, Macular hyp... OMIM:614075
Lymphedema-Distichiasis Syndrome
Photophobia, Fibrosarcoma, Recurrent skin infections, Patent ductus arteriosus, Webbed neck ORPHA:33001
Flotch Syndrome
Photophobia, Neoplasm of the skin ORPHA:2045
Xeroderma Pigmentosum, Complementation Group A
Photophobia, Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278700
Laron Syndrome
Hypercholesterolemia ORPHA:633
Oculocutaneous Albinism Type 1A
Photophobia, Ocular albinism, Hypoplasia of the fovea, Basal cell carcinoma, Abnormality of the o... ORPHA:79431
Ichthyosis, Congenital, Autosomal Recessive 11
Photophobia, Pruritus OMIM:602400
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholester... OMIM:615558
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Dyskeratosis, Hereditary Benign Intraepithelial
Photophobia, Visual impairment OMIM:127600
Corneal Dystrophy, Reis-Bucklers Type
Photophobia, Reduced visual acuity OMIM:608470
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Photophobia, Folliculitis OMIM:612843
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Photophobia, Erythroderma, Cerebral atrophy, Myopia OMIM:242150
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Trichothiodystrophy
Photophobia, Diffuse cerebellar atrophy, Cerebral cortical atrophy, Retinal degeneration, Macular... ORPHA:33364
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Photophobia, Folliculitis OMIM:308800
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
Brain atrophy, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Decrease... ORPHA:167
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Hermansky-Pudlak Syndrome 11
Photophobia, Ocular albinism, Reduced visual acuity, Reduced platelet dense granules, Hypoplasia ... OMIM:619172
Hartnup Disease
Photophobia, Abnormality of vision, Skin rash ORPHA:2116
Cockayne Syndrome Type 3
Photophobia, Hypermetropia, Brain atrophy, Retinal degeneration, Splenomegaly, Retinal hemorrhage... ORPHA:90324
Meningococcal Meningitis
Papilledema, Skin rash, Photophobia ORPHA:33475
Scrub Typhus
Photophobia, Skin rash, Splenomegaly ORPHA:83317
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Mucolipidosis Type Iv
Photophobia, Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Cerebral atrophy, Brain atrophy, Optic disc pallor, Abnormal au... OMIM:619260
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Hermansky-Pudlak Syndrome 2
Photophobia, Enlarged platelet dense granules, Ocular albinism, Chronic oral candidiasis, Splenom... OMIM:608233
Autoimmune Polyendocrinopathy Type 1
Photophobia, Chronic mucocutaneous candidiasis, Visual impairment ORPHA:3453
Xeroderma Pigmentosum, Complementation Group D
Photophobia, Defective DNA repair after ultraviolet radiation damage, Melanoma OMIM:278730
Oculocutaneous Albinism Type 2
Photophobia, Abnormality of retinal pigmentation, Cutaneous melanoma, Reduced visual acuity, Hypo... ORPHA:79432
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Photophobia OMIM:219900
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Photophobia OMIM:219750
Paternal Uniparental Disomy Of Chromosome 1
Photophobia, Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Brain atrophy... ORPHA:251004
Xeroderma Pigmentosum, Variant Type
Photophobia, Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma OMIM:278750
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Autoinflammation With Arthritis And Dyskeratosis
Photophobia, Splenomegaly, Hypereosinophilia, Laryngeal papilloma, Autoimmune hemolytic anemia OMIM:617388
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Photophobia, Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610319
Spinocerebellar Ataxia Type 7
Photophobia, Hemeralopia, Cerebral atrophy, Macular degeneration, Reduced visual acuity, Cone/con... ORPHA:94147
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Idiopathic Anterior Uveitis
Photophobia, Macular edema, Blurred vision, Increased cup-to-disc ratio ORPHA:280914
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Photophobia OMIM:618535
Rift Valley Fever
Photophobia, Skin rash, Reduced visual acuity, Macular edema, Retinal hemorrhage, Retinal vasculi... ORPHA:319251
Kid Syndrome
Photophobia, Recurrent bacterial skin infections, Folliculitis, Recurrent cutaneous fungal infect... ORPHA:477
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Photophobia, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual field OMIM:618527
Postorgasmic Illness Syndrome
Photophobia, Blurred vision ORPHA:279947
Smith-Magenis Syndrome
Gait disturbance, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Oculocutaneous Albinism
Photophobia, Ocular albinism, Cutaneous melanoma, Reduced visual acuity, Hypoplasia of the fovea,... ORPHA:55
Ocular Cystinosis
Photophobia, Visual impairment ORPHA:411641
Megalocornea-Mental Retardation Syndrome
Ataxia, Hypercholesterolemia OMIM:249310
Bilateral Acute Depigmentation Of The Iris
Photophobia ORPHA:69736
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Fanconi Anemia, Complementation Group E
Neutropenia, Thrombocytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancyto... OMIM:600901
Infantile Krabbe Disease
Photophobia, Decreased nerve conduction velocity, Cherry red spot of the macula, Visual loss, Opt... ORPHA:206436
Epithelial Recurrent Erosion Dystrophy
Photophobia, Progressive visual loss, Blurred vision ORPHA:293381
Giant Axonal Neuropathy 1, Autosomal Recessive
Photophobia, Facial palsy OMIM:256850
Albinism, Oculocutaneous, Type Ia
Photophobia, Ocular albinism, Reduced visual acuity, Hypoplasia of the fovea, Visual impairment, ... OMIM:203100
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Photophobia, Erythroderma, Aganglionic megacolon, Brain atrophy OMIM:308205
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia ORPHA:2720
Megalocornea-Intellectual Disability Syndrome
Ataxia, Hypercholesterolemia ORPHA:2479
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Cystinosis
Photophobia, Retinopathy, Visual impairment ORPHA:213
Posterior Polymorphous Corneal Dystrophy
Photophobia, Very low visual acuity, Reduced visual acuity, Blurred vision, Amblyopia, Chorioreti... ORPHA:98973
Fanconi Anemia, Complementation Group A
Neutropenia, Thrombocytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancyto... OMIM:227650
Xfe Progeroid Syndrome
Blindness, Attenuation of retinal blood vessels, Optic atrophy, Defective DNA repair after ultrav... OMIM:610965
Corneal Dystrophy, Thiel-Behnke Type
Photophobia OMIM:602082
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Recurrent bacterial skin infections, Blindness, Squamous cell carcinoma OMIM:148210
Paroxysmal Hemicrania
Photophobia ORPHA:157835
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Astrocytosis, Facial palsy ORPHA:258
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Pituitary Apoplexy
Photophobia, Pituitary adenoma, Diplopia, Reduced visual acuity, Abnormal kinetic perimetry test,... ORPHA:95613
Lyme Disease
Photophobia, Amaurosis fugax ORPHA:91546
Mucoepithelial Dysplasia, Hereditary
Photophobia, Eosinophilia, Chronic mucocutaneous candidiasis, Blindness OMIM:158310
Hermansky-Pudlak Syndrome
Photophobia, Ocular albinism, Amblyopia, Basal cell carcinoma, Neutropenia, Squamous cell carcino... ORPHA:79430
Chiari Malformation Type I
Photophobia, Diplopia OMIM:118420
Lattice Corneal Dystrophy Type I
Photophobia, Slow decrease in visual acuity, High myopia, Visual loss ORPHA:98964
Supranuclear Palsy, Progressive, 2
Photophobia, Neuronal loss in central nervous system, Gliosis, Diplopia, Granulovacuolar degenera... OMIM:609454
Hereditary Mucoepithelial Dysplasia
Photophobia ORPHA:1839
Alacrima, Congenital, Autosomal Recessive
Photophobia OMIM:601549
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Trichothiodystrophy 1, Photosensitive
Photophobia, Basal cell carcinoma, Erythroderma, Squamous cell carcinoma OMIM:601675
Ataxia-Telangiectasia-Like Disorder 2
Photophobia, Neurodegeneration, Cerebellar atrophy OMIM:615919
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Axonal degeneration, Melanoma, Optic atrophy, Defective DNA repair after ultrav... OMIM:278800
Alstrom Syndrome
Photophobia, Constriction of peripheral visual field, Pigmentary retinopathy, Cone/cone-rod dystr... OMIM:203800
Ermine Phenotype
Photophobia, Ocular albinism ORPHA:999
Acrodermatitis Enteropathica
Photophobia, Cerebral cortical atrophy, Visual impairment, Pustule ORPHA:37
Amoebiasis Due To Free-Living Amoebae
Photophobia, Unusual skin infection, Pustule, Diplopia, Myocardial necrosis, Visual loss, Increas... ORPHA:68
Fanconi Anemia, Complementation Group C
Neutropenia, Thrombocytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancyto... OMIM:227645
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Congenital Microcoria
Photophobia, Hemeralopia, Nyctalopia, Blurred vision, Axial myopia, Visual impairment, Blindness ORPHA:566
Sunct Syndrome
Photophobia ORPHA:57145
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Cockayne Syndrome Type 1
Photophobia, Absent brainstem auditory responses, Pigmentary retinopathy, Optic atrophy, Abnormal... ORPHA:90321
Coccidioidomycosis
Photophobia, Folliculitis, Skin rash, Eosinophilia, Abscess, Abnormality of the spleen, Blurred v... ORPHA:228123
Cockayne Syndrome Type 2
Photophobia, Visual impairment ORPHA:90322
Lujo Hemorrhagic Fever
Photophobia, Lymphopenia, Leukocytosis, Skin rash, Maculopapular exanthema, Leukopenia, Thrombocy... ORPHA:319213
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Astrocytosis, Splenomegaly ORPHA:309854
Granular Corneal Dystrophy Type I
Photophobia, Reduced visual acuity, Visual impairment ORPHA:98962
Xeroderma Pigmentosum
Photophobia, Papilloma, Neoplasm, Cerebral cortical atrophy, Melanoma, Optic atrophy, Neoplasm of... ORPHA:910
Hermansky-Pudlak Syndrome 1
Photophobia, Blindness, Ocular albinism, Severely reduced visual acuity OMIM:203300
Fanconi Anemia, Complementation Group D2
Neutropenia, Thrombocytopenia, Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ... OMIM:227646
Leukonychia Totalis
Photophobia, Adenoma sebaceum ORPHA:2387
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Mucopolysaccharidosis, Type Vii
Photophobia, Visual impairment, Neurodegeneration, Splenomegaly OMIM:253220
Cockayne Syndrome
Photophobia, Hypermetropia, Abnormality of retinal pigmentation, Gliosis, Decreased nerve conduct... ORPHA:191
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Photophobia, Hypermetropia, Recurrent skin infections, Squamous cell carcinoma of the skin, Anemia ORPHA:79396
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Clouston Syndrome
Photophobia OMIM:129500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:79240
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... ORPHA:101085
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:370
Congenital Tufting Enteropathy
Photophobia, Optic disc coloboma ORPHA:92050
Blau Syndrome
Photophobia, Abnormal retinal vascular morphology, Clear cell renal cell carcinoma, Splenomegaly,... ORPHA:90340
Lymphedema-Distichiasis Syndrome
Photophobia, Patent ductus arteriosus OMIM:153400
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Limbal Stem Cell Deficiency
Photophobia, Reduced visual acuity ORPHA:171673
Ifap Syndrome 2
Photophobia OMIM:619016
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Photophobia, Visual impairment, Visual loss OMIM:301220
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia ORPHA:264580
Tick-Borne Encephalitis
Photophobia, Leukocytosis, Abnormal autonomic nervous system physiology, Leukopenia, Abnormal cra... ORPHA:297
Arnold-Chiari Malformation Type I
Photophobia, Cranial nerve compression, Abnormality of the eleventh cranial nerve, Diplopia, Abno... ORPHA:268882
Intellectual Disability, Buenos-Aires Type
Photophobia ORPHA:3079
Cogan Syndrome
Photophobia, Leukocytosis, Reduced visual acuity, Thrombocytosis, Anemia, Blindness ORPHA:1467
Tooth Agenesis, Selective, 4
Photophobia, Thin skin OMIM:150400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Classic Progressive Supranuclear Palsy Syndrome
Photophobia, Blurred vision ORPHA:240071
Reversible Cerebral Vasoconstriction Syndrome
Photophobia, Blurred vision ORPHA:284388
Tyrosinemia Type 2
Photophobia, Visual loss ORPHA:28378
Macular Corneal Dystrophy
Photophobia, Severely reduced visual acuity ORPHA:98969
Tubulointerstitial Nephritis And Uveitis Syndrome
Photophobia, Vitreous hemorrhage, Abnormality of retinal pigmentation, Cystoid macular edema, Ski... ORPHA:91500
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Chikungunya
Photophobia, Skin rash, Maculopapular exanthema, Crusting erythematous dermatitis, Pruritus, Eryt... ORPHA:324625
Encephalitis Lethargica
Photophobia, Diplopia ORPHA:83600
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... ORPHA:470
Phacoanaphylactic Uveitis
Photophobia, Cystoid macular edema, Macular edema, Blurred vision, Vitreoretinopathy, Visual loss... ORPHA:209959
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Gapo Syndrome
Optic atrophy, Photophobia OMIM:230740
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... ORPHA:90041
Stevens-Johnson Syndrome
Photophobia, Abnormality of neutrophils, Anemia, Thrombocytopenia, Visual impairment ORPHA:36426
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Toxic Epidermal Necrolysis
Photophobia, Visual loss, Neutropenia, Anemia, Thrombocytopenia ORPHA:537
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Photophobia, Hypermetropia, Optic atrophy, Cerebellar atrophy, Chorioretinal coloboma OMIM:210730
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Amoebic Keratitis
Photophobia, Abnormal posterior eye segment morphology ORPHA:67043
Behçet Disease
Photophobia, Optic neuritis, Splenomegaly, Retinopathy, Acne, Retrobulbar optic neuritis, Blindness ORPHA:117
Trisomy 10P
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... ORPHA:171929
Reactive Arthritis
Photophobia, Pustule ORPHA:29207
Crimean-Congo Hemorrhagic Fever
Photophobia, Morbilliform rash, Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Retinal hem... ORPHA:99827
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Photophobia OMIM:609944
Cystinosis, Nephropathic
Photophobia, Blindness, Cerebral atrophy, Splenomegaly, Retinal pigment epithelial mottling, Reti... OMIM:219800
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Axonal d... ORPHA:909
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia ORPHA:79259
Infantile Nephropathic Cystinosis
Photophobia, Pigmentary retinopathy ORPHA:411629
Eec Syndrome
Photophobia, Hypoplasia of the thymus, Lymphoma ORPHA:1896
Corneal Dystrophy, Posterior Polymorphous, 1
Photophobia OMIM:122000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Photophobia, Inflammatory abnormality of the skin, Skin rash, Visual loss, Renal tubular epitheli... ORPHA:95455
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Lipodystrophy, Familial Partial, Type 7
Dysmetria, Dysdiadochokinesis, Hypertriglyceridemia, Gait ataxia, Hypercholesterolemia OMIM:606721
Alacrima, Congenital, Autosomal Dominant
Photophobia OMIM:103420
Sarcoidosis, Susceptibility To, 1
Photophobia, Optic neuropathy, Splenomegaly, Blurred vision, Chorioretinitis, Pancytopenia OMIM:181000
Odontoonychodermal Dysplasia
Photophobia OMIM:257980
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism ORPHA:534
Isolated Congenital Alacrima
Photophobia ORPHA:91416
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Photophobia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Eczema, Subcortical cerebr... ORPHA:2273
Steinert Myotonic Dystrophy
Gait disturbance, Inability to walk, Falls, Hypercholesterolemia ORPHA:273
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Photophobia, Thin skin OMIM:129900
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... OMIM:309000
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Juvenile Nephropathic Cystinosis
Photophobia ORPHA:411634
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Photophobia ORPHA:1010
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Photophobia OMIM:604292
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Chronic Graft Versus Host Disease
Photophobia, Pancytopenia ORPHA:99921
Alström Syndrome
Photophobia, Visual field defect, Splenomegaly, Hepatosplenomegaly, Cone/cone-rod dystrophy, Reti... 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.

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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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