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Gene: Atf6 MGI:1926157

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
activating transcription factor 6
Synonyms:
Atf6alpha,  9130025P16Rik,  ESTM49

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Atf6 mutations

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

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

The table below shows human diseases associated to Atf6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517

The table below shows human diseases predicted to be associated to Atf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen... OMIM:251270
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen OMIM:204000
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... ORPHA:816
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function OMIM:616829
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... ORPHA:897
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m... ORPHA:5
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:609033
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:257270
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Facial palsy ORPHA:370968
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Cone-Rod Dystrophy 6
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... OMIM:601777
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating... OMIM:619386
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:2481
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy OMIM:256000
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Facial palsy OMIM:613156
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis ORPHA:363400
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Vici Syndrome
Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Abnormal macula... ORPHA:1493
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Carnitine Deficiency, Systemic Primary
Elevated circulating aspartate aminotransferase concentration, Decreased carnitine level in liver... OMIM:212140
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:300536
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:619013
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... OMIM:261680
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of ... ORPHA:88628
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreas... ORPHA:42
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:615595
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation ORPHA:585
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:615381
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin... ORPHA:2137
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail... OMIM:256810
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:605911
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:201450
Glycogen Storage Disease Ixb
Hepatomegaly, Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Portal fibrosis, Elevated circulating alanine aminotransferase concentration, Hepati... OMIM:614300
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:610198
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele... OMIM:614921
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Freckling, Decreased nerve conduction velocity OMIM:610651
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Pigmentary retinopathy, Optic atrophy OMIM:617282
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly ORPHA:79083
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Cohen Syndrome
Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ... OMIM:216550
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated circulating aspart... OMIM:617093
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic s... ORPHA:228305
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased hepatocellu... ORPHA:71
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis ORPHA:2348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Pigmentary retinopathy OMIM:613154
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Mitochondrial Neurogastrointestinal Encephalomyopathy
Macrovesicular hepatic steatosis, Cirrhosis, Elevated circulating hepatic transaminase concentration ORPHA:298
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis ORPHA:528
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Chorioreti... OMIM:618733
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan... ORPHA:247585
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:212138
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen... OMIM:605814
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:214110
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Po... OMIM:619487
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi... ORPHA:98907
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ... OMIM:611126
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hepatic steatosis OMIM:236200
19P13.12 Microdeletion Syndrome
Hepatic steatosis ORPHA:254346
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:608836
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati... ORPHA:157850
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:99901
Werner Syndrome
White forelock, Abnormality of retinal pigmentation, Premature graying of hair ORPHA:902
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Cohen Syndrome
Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin ... ORPHA:193
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic necrosis, Hepatic steatosis, Elevated circulating hepatic transami... ORPHA:71212
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:348
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:445038
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,... ORPHA:2526
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic stea... OMIM:613327
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Neoplasm of the pancreas ORPHA:2959
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614924
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic ... OMIM:212065
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He... ORPHA:790
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Acquired Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Acute pancreatitis, Hepatic steatosis ORPHA:79086
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Hepatic steatosis OMIM:210900
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Abnormality of peripheral nerve conduction, Absent brainst... ORPHA:90321
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Bardet-Biedl Syndrome 1
Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ... OMIM:209900
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... ORPHA:98908
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... ORPHA:2088
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Combined Oxidative Phosphorylation Deficiency 37
Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d... OMIM:618329
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:617253
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis ORPHA:412
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis ORPHA:280365
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly OMIM:617303
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Microvesic... OMIM:617156
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... OMIM:616263
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Pigmentary retinopathy, Brushfield spots OMIM:214100
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Acute pancreatitis ORPHA:444490
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... ORPHA:167
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:615356
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Pigmentary retinopathy, Optic nerve dysplasia, Rod-cone dystrophy, Brushfield spots OMIM:614866
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormal motor nerve conduction veloci... ORPHA:466768
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Lipid accumulation in hepatocytes, Hepat... ORPHA:20
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo... ORPHA:2556
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis ORPHA:66634
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,... ORPHA:79282
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat... ORPHA:580
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cir... ORPHA:14
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation ORPHA:505248
Cockayne Syndrome
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Decreased nerve conductio... ORPHA:191
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased intramyocellular... ORPHA:17
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... OMIM:124000
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:255210
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Abnormality of retinal pigmentation ORPHA:175
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... ORPHA:699
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... OMIM:619573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Increased hepatic glycogen content, Pancreatitis, Hepatomegaly, Hepatocellular... ORPHA:79259
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Cholestasis, P... OMIM:613658
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hepatic steatosis ORPHA:189427
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... OMIM:216400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:247598
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Melas
Optic atrophy, Pigmentary retinopathy, Vitiligo ORPHA:550
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor... ORPHA:217085
Alstrom Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Chronic... OMIM:203800
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated... OMIM:619525
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retinal degeneration ORPHA:581
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor... ORPHA:217093
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration OMIM:234200
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos... OMIM:608594
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Nijmegen Breakage Syndrome
Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling OMIM:251260
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hepatitis, Hepatic steatosis OMIM:615846
Neurofibromatosis Type 1
Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera... ORPHA:636
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cirrhosis, Hepatomega... OMIM:229600
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat... ORPHA:91500
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos... OMIM:269700
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Decreased nerve condu... OMIM:133540
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Cirrhosis, Elevated hepatic iron concentration, Microvesicular hepatic steatosis OMIM:300868
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:619475
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis OMIM:618278
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly OMIM:270400
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Retino... OMIM:219800
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99226
Ogden Syndrome
Jaundice, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis OMIM:300855
Atypical Werner Syndrome
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Retinal degenerat... ORPHA:79474
Aromatase Deficiency
Hepatic steatosis ORPHA:91
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Annular pancreas, Hepatic steatosis ORPHA:1606
Proteus Syndrome
Retinal nonattachment, Irregular hyperpigmentation, Chorioretinal coloboma, Central heterochromia... ORPHA:744
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis OMIM:619503
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:619127
Bardet-Biedl Syndrome
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:110
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis ORPHA:3455
Digeorge Syndrome
Splenomegaly, Cholelithiasis, Hepatic steatosis OMIM:188400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Alström Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:64
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665

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 Atf6

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 Atf6.

No publications found that use IMPC mice or data for Atf6.

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