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Gene: Trappc6a MGI:1914341

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

trafficking protein particle complex 6A

Synonyms:

4930519D19Rik, TRS33, 1810073E21Rik

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 Trappc6a 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.

Human diseases associated with Trappc6a (0 diseases)
Human diseases predicted to be associated with Trappc6a (351 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Trappc6a by phenotypic similarity.

Disease	Matching phenotypes	Source
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Graying Of Hair, Precocious	Premature graying of hair	OMIM:139100
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Retinitis Pigmentosa 36	Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor...	OMIM:610599
Leber Congenital Amaurosis 13	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:612712
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Choroideremia	Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at...	OMIM:303100
X-Linked Retinal Dysplasia	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia	ORPHA:1852
Dilution, Pigmentary	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o...	OMIM:126070
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:615990
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret...	OMIM:180210
Retinitis Pigmentosa 69	Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:615780
Macular Dystrophy, Retinal, 2	Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal...	OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White...	OMIM:214450
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613809
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Persistent Placoid Maculopathy	Retinal pigment epithelial mottling, Choroidal neovascularization, Abnormal macular morphology, H...	ORPHA:97341
Retinitis Pigmentosa 30	Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B...	OMIM:607921
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Retinitis Pigmentosa 87 With Choroidal Involvement	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:618697
Sorsby Pseudoinflammatory Fundus Dystrophy	Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula...	ORPHA:59181
Retinitis Pigmentosa 33	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt...	OMIM:610359
Central Areolar Choroidal Dystrophy	Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi...	ORPHA:75377
Albinism, Oculocutaneous, Type Iv	Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Familial Drusen	Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig...	ORPHA:75376
Liberfarb Syndrome	Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ...	OMIM:618889
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Waardenburg Syndrome, Type 2B	White forelock, Premature graying of hair, Heterochromia iridis	OMIM:600193
Retinitis Pigmentosa 47	Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:613758
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen...	ORPHA:42665
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Retinitis Pigmentosa 32	Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse...	OMIM:609913
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Sparse hair, Supernumerary nipple, Sparse or absent eyelashe...	ORPHA:1433
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro...	OMIM:613428
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus	OMIM:606952
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:614180
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:613801
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 76	Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore...	OMIM:617123
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy	OMIM:606068
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 11	Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema...	OMIM:600138
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:79435
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l...	OMIM:619947
Oliver-Mcfarlane Syndrome	Sparse hair, Retinal degeneration, Alopecia, Pigmentary retinopathy, Long eyelashes, Long eyebrow...	OMIM:275400
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys...	OMIM:608133
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Oculocutaneous Albinism, Type Viii	Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi...	OMIM:619165
Retinitis Pigmentosa 90	Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ...	OMIM:619007
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Retinitis Pigmentosa 88	Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal...	OMIM:618826
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy	OMIM:551500
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov...	ORPHA:85128
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal...	OMIM:614500
Stargardt Disease	Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig...	ORPHA:827
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Eem Syndrome	Sparse scalp hair, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body hair, Retinop...	ORPHA:1897
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Retinitis Pigmentosa 6	Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:312612
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab...	OMIM:251270
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy...	ORPHA:897
Waardenburg Syndrome, Type 4B	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613265
Retinitis Pigmentosa 19	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt...	OMIM:601718
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Microphthalmia, Isolated 5	Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d...	OMIM:611040
Central Retinal Vein Occlusion	Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati...	ORPHA:411527
Retinitis Pigmentosa 4	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:613731
Bietti Crystalline Dystrophy	Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning...	ORPHA:41751
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 86	Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,...	OMIM:618613
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Ermine Phenotype	Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair	OMIM:227010
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli...	OMIM:304020
Achromatopsia	Absent foveal reflex, Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuati...	ORPHA:49382
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Hidrotic Ectodermal Dysplasia	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa...	ORPHA:189
Oculocutaneous Albinism Type 2	Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk...	ORPHA:79432
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy	OMIM:613767
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo...	ORPHA:79434
Albinism, Oculocutaneous, Type Ii	Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre...	OMIM:203200
Retinitis Pigmentosa 41	Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino...	OMIM:612095
Leber Congenital Amaurosis 8	Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla...	OMIM:613835
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Morning Glory Disc Anomaly	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma	ORPHA:35737
Retinitis Pigmentosa 1	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:180100
Leber Congenital Amaurosis 9	Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti...	OMIM:608553
Leber Congenital Amaurosis 2	Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph...	OMIM:204100
Congenital Stationary Night Blindness	Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re...	ORPHA:215
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Hypotrichosis 8	Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S...	OMIM:278150
Oculocutaneous Albinism Type 3	Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e...	ORPHA:79433
Cone-Rod Dystrophy 3	Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc...	OMIM:604116
Waardenburg Syndrome, Type 2A	Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry...	OMIM:193510
Retinitis Pigmentosa 46	Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:612572
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Griscelli Syndrome, Type 2	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:607624
Retinitis Pigmentosa 12	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:600105
Retinitis Pigmentosa 49	Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,...	OMIM:613756
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented fr...	OMIM:601706
Retinitis Pigmentosa 83	Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi...	OMIM:618173
Retinitis Pigmentosa 43	Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall...	OMIM:613810
Retinitis Pigmentosa 58	Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor...	OMIM:613617
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology	ORPHA:2786
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat...	ORPHA:33445
Retinitis Pigmentosa 56	Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment...	OMIM:613581
Retinitis Pigmentosa 2	Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey...	OMIM:312600
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Retinitis Pigmentosa 10	Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ...	OMIM:180105
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi...	ORPHA:895
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ...	OMIM:145350
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Cone-Rod Dystrophy 8	Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/...	OMIM:605549
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel...	ORPHA:2885
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613464
Retinitis Pigmentosa 25	Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo...	OMIM:602772
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy	OMIM:204000
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Sjögren-Larsson Syndrome	Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera...	ORPHA:816
Joubert Syndrome 28	Optic disc pallor, Highly arched eyebrow, Pigmentary retinopathy	OMIM:617121
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom...	ORPHA:1390
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Laurence-Moon Syndrome	Pigmentary retinopathy	OMIM:245800
Waardenburg Syndrome, Type 4A	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:277580
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610283
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Fingernail dysplasia	ORPHA:1259
Oculocutaneous Albinism Type 1	Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner...	ORPHA:352731
Elejalde Neuroectodermal Melanolysosomal Syndrome	Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos...	OMIM:256710
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Ramon Syndrome	Generalized hirsutism, Abnormality of retinal pigmentation	ORPHA:3019
Vogt-Koyanagi-Harada Disease	Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Retinal detachment, Vitiligo, Abnormal ...	ORPHA:3437
Leber Congenital Amaurosis 15	Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor	OMIM:613843
Piebald Trait	Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi...	OMIM:172800
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog...	ORPHA:364055
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-...	OMIM:600132
Enhanced S-Cone Syndrome	Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy	OMIM:268100
Retinitis Punctata Albescens	Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ...	ORPHA:52427
Retinopathy, Pigmentary, And Mental Retardation	Pigmentary retinopathy	OMIM:268050
Retinitis Pigmentosa 72	Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment...	OMIM:616469
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat...	OMIM:193220
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Narp Syndrome	Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d...	ORPHA:644
Retinitis Pigmentosa	Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:791
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Albinism-Deafness Syndrome	Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk...	ORPHA:998
Oculocutaneous Albinism	Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ...	ORPHA:55
Blindness-Scoliosis-Arachnodactyly Syndrome	Abnormality of retinal pigmentation, Retinal detachment	ORPHA:171844
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy	OMIM:615233
Leigh Syndrome With Leukodystrophy	Optic atrophy, Hypertrichosis, Pigmentary retinopathy	ORPHA:255241
Albinism-Deafness Syndrome	Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism	OMIM:300700
Neurocutaneous Melanocytosis	Generalized hirsutism, Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi,...	ORPHA:2481
Juvenile Paget Disease	Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper...	OMIM:120970
Piebaldism	Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal...	ORPHA:2884
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Acute Zonal Occult Outer Retinopathy	Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Pi...	ORPHA:284454
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Oculocutaneous Albinism Type 1A	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,...	ORPHA:79431
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m...	ORPHA:5
Posterior Column Ataxia With Retinitis Pigmentosa	Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ...	OMIM:609033
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:177910
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Leigh Syndrome	Optic atrophy, Hypertrichosis, Pigmentary retinopathy	OMIM:256000
Cone-Rod Dystrophy 6	Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr...	OMIM:601777
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Waardenburg Syndrome Type 1	Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia...	ORPHA:894
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati...	OMIM:615986
Zika Virus Disease	Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ...	ORPHA:448237
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation	ORPHA:2518
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela...	OMIM:601375
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation	OMIM:108145
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Blue irides, Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Absent...	OMIM:203100
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy...	ORPHA:999
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Prolidase Deficiency	Hirsutism, Low anterior hairline, Abnormality of retinal pigmentation, Generalized hirsutism, Abn...	ORPHA:742
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair	OMIM:614072
Vici Syndrome	Hypopigmentation of the skin, Optic atrophy, Abnormality of retinal pigmentation, Abnormal macula...	ORPHA:1493
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ...	ORPHA:2715
Bardet-Biedl Syndrome 17	Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ...	OMIM:615994
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Multiple Sulfatase Deficiency	Optic atrophy, Coarse hair, Abnormality of retinal pigmentation, Thick eyebrow	ORPHA:585
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:300578
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:411515
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Bone spicule pigmentation of the retina, Optic atrophy, Optic disc pallor, Rod-cone dystrophy	OMIM:268315
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair	ORPHA:2221
Refsum Disease	Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Lowry-Wood Syndrome	Abnormality of nail color, Abnormality of retinal pigmentation	ORPHA:1824
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Werner Syndrome	Pili torti, Sparse scalp hair, Abnormality of retinal pigmentation, Abnormal hair whorl, White fo...	ORPHA:902
Waardenburg Syndrome, Type 4C	Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray...	OMIM:613266
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Bardet-Biedl Syndrome	Generalized hirsutism, Pigmentary retinopathy, Medial flaring of the eyebrow	ORPHA:110
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:88628
Griscelli Syndrome Type 2	Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79477
Cohen Syndrome	Thick eyebrow, Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Ch...	OMIM:216550
Micro Syndrome	Optic atrophy, Generalized hirsutism, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Alopecia universalis, Alopecia, Pigmentary retinopathy,...	OMIM:240300
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Cohen Syndrome	Abnormality of retinal pigmentation, Thick eyebrow, Low anterior hairline, Optic atrophy, Long ey...	ORPHA:193
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry...	ORPHA:3440
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukonychia, Abnormality of retinal pigmentation, Melanonychia, Retinopathy, Retinal detachment, ...	ORPHA:2526
Mucopolysaccharidosis, Type Ii	Papilledema, Hypertrichosis, Abnormality of retinal pigmentation	OMIM:309900
Carney Complex, Type 1	Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair	OMIM:160980
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Freckling, Pigmentary retinopathy	OMIM:610651
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy	OMIM:222300
Hermansky-Pudlak Syndrome 1	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ...	OMIM:203300
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Pigmentary retinopathy	OMIM:612582
Aceruloplasminemia	Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration	ORPHA:48818
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip...	ORPHA:3214
Peroxisome Biogenesis Disorder 5A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia	OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia	OMIM:214110
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Coffin-Lowry Syndrome	Optic atrophy, Hyperconvex fingernails, Abnormality of retinal pigmentation, Hypoplastic fingernail	ORPHA:192
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Thick hair, Pigmentary retinopathy	ORPHA:502423
Myopathy, Mitochondrial, And Ataxia	Thick hair, Pigmentary retinopathy	OMIM:617675
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair	OMIM:618541
Alstrom Syndrome	Pigmentary retinopathy, Cone/cone-rod dystrophy, Alopecia	OMIM:203800
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Pantothenate Kinase-Associated Neurodegeneration	Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ...	ORPHA:157850
Chédiak-Higashi Syndrome	Spotty hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypo...	ORPHA:167
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:98795
Classic Homocystinuria	Sparse scalp hair, Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment	ORPHA:394
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypertrichosis, Abnormality of retinal pigmentation, Optic atrophy, Long eyelashes, Thick hair	ORPHA:505248
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Autosomal Dominant Cerebellar Ataxia	Macular degeneration, Pigmentary retinopathy, Retinal degeneration	ORPHA:99
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Chorioretinal lacunae	OMIM:618733
Squalene Synthase Deficiency	Optic nerve hypoplasia, Abnormality of hair pigmentation	OMIM:618156
Mucopolysaccharidosis Type 3	Hirsutism, Generalized hirsutism, Retinal degeneration, Rod-cone dystrophy, Coarse hair, Pigmenta...	ORPHA:581
Ramon Syndrome	Optic disc pallor, Hypertrichosis, Pigmentary retinopathy	OMIM:266270
Bardet-Biedl Syndrome 1	Hirsutism, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retina...	OMIM:209900
Atypical Werner Syndrome	Pili torti, Abnormality of retinal pigmentation, Abnormal hair quantity, Abnormal hair whorl, Alo...	ORPHA:79474
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dysplasia, Retinal dystrophy, Abnormal eyelash morph...	ORPHA:2556
Retinoblastoma	Abnormality of retinal pigmentation, Retinoblastoma, Vitreous hemorrhage, Heterochromia iridis, R...	ORPHA:790
Cockayne Syndrome	Abnormality of retinal pigmentation, Retinal degeneration, Retinal arteriolar constriction, Dry h...	ORPHA:191
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Pigmentary retinopathy	ORPHA:90321
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pigmentary retinopathy, Optic disc pallor, Brushfield spots	OMIM:214100
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Sparse hair, Sparse eyebrow	ORPHA:175
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Melas	Optic atrophy, Hypertrichosis, Vitiligo, Pigmentary retinopathy	ORPHA:550
Cockayne Syndrome A	Sparse hair, Retinal pigment epithelial mottling, Dry hair, Pigmentary retinopathy, Optic atrophy...	OMIM:216400
Chediak-Higashi Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ...	OMIM:214500
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Abnormal hair quantity, Generalized hyperpigmentation, Freck...	ORPHA:636
Trisomy 18	Abnormality of retinal pigmentation, Abnormal toenail morphology	ORPHA:3380
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy, Optic atrophy,...	ORPHA:79282
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinal degeneration, Papilledem...	ORPHA:580
Cockayne Syndrome B	Sparse hair, Dry hair, Pigmentary retinopathy, Optic atrophy, Abnormality of skin pigmentation, A...	OMIM:133540
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Khan-Khan-Katsanis Syndrome	Pigmentary retinopathy	OMIM:618460
Hermansky-Pudlak Syndrome	Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h...	ORPHA:79430
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:255210
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Proteus Syndrome	Generalized hirsutism, Abnormality of retinal pigmentation, Irregular hyperpigmentation, Retinal ...	ORPHA:744
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinopathy, Optic ...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinopathy, Optic ...	ORPHA:217093
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Retinopathy, Hypopigmentation of the skin, Hypopigmentation ...	OMIM:219800
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Hyperpigmentation of the skin, Pigmentary retinopathy, Retinal degeneration	OMIM:234200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Optic disc pallor, Pigmentary retinopathy, Cone/cone-rod dystrophy	ORPHA:404454
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Vitreous hemorrhage, Cystoid macular edema, Papilledema, Mac...	ORPHA:91500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Heterochromia iridis, Premature graying of...	ORPHA:163746
Brittle Cornea Syndrome	Abnormality of hair pigmentation, Retinal detachment	ORPHA:90354
Cancer-Associated Retinopathy	Granular macular appearance, Retinal pigment epithelial atrophy, Optic atrophy, Optic disc pallor...	ORPHA:71505
Pearson Syndrome	Cafe-au-lait spot, Hyperpigmentation of the skin, Pigmentary retinopathy	ORPHA:699
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Syndromic Diarrhea	Woolly hair, Brittle hair, Generalized hypopigmentation, Hypopigmentation of hair, Trichorrhexis ...	ORPHA:84064
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Sparse hair, Pigmentary retinopathy	OMIM:606721
Alagille Syndrome 1	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:118450
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Hirsutism, Sparse hair, Pigmentary retinopathy, Optic atrophy, Synophrys, Apla...	ORPHA:3455
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068

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 Trappc6a

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 Trappc6a.

No publications found that use IMPC mice or data for Trappc6a.

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MGI Allele	Allele Type	Produced
Trappc6a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trappc6a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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