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Gene: Pmel MGI:98301

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Gene Summary

Name:
premelanosome protein
Synonyms:
D12S53Eh,  gp87,  gp100,  Si,  Pmel17,  D10H12S53E

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Pmeltm1b(EUCOMM)Wtsi HOM Early adult 1.32×10-06
increased circulating bilirubin level Pmeltm1b(EUCOMM)Wtsi HOM   Early adult 5.92×10-05
decreased total body fat amount Pmeltm1b(EUCOMM)Wtsi HOM Early adult 4.68×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Electrocardiogram (ECG)

Waveform Image

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Pmel 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the fundus, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... 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
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti... OMIM:619165
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, White forelock, Patchy hypo- and hyperpigmentation, Chorioretinal co... OMIM:601706
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu... ORPHA:1433
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi... OMIM:203200
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ... ORPHA:79435
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal degeneration, Pigmenta... OMIM:275400
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Oculocutaneous Albinism Type 3
Blue irides, Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentatio... ORPHA:79433
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Hypoplasia of the fovea, Fair hair OMIM:113750
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
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
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology ORPHA:2786
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Eem Syndrome
Macular dystrophy, Sparse scalp hair, Absent eyebrow, Retinopathy, Sparse body hair, Abnormality ... ORPHA:1897
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Macular dystrophy, Hypopigmentation of hair, Hypopigmen... ORPHA:33445
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Hypopigmentation of hair, Alopecia ORPHA:1067
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Optic nerve misrouting, Macular hypopigmentation, Hyp... ORPHA:79432
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot... ORPHA:411527
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Uncombable hair, Sparse hair ORPHA:1264
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Heimler Syndrome 1
Macular dystrophy, Leukonychia, Retinal pigment epithelial mottling, Beau's lines OMIM:234580
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Retinopathy, Iris hypopigmentation, Partial albinism ORPHA:79476
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Sparse hair, Retinal degeneration, Pigmentary retinopathy, Alopecia ORPHA:3363
Oculocutaneous Albinism Type 1
Iris transillumination defect, Optic nerve misrouting, Abnormal morphology of the choroidal vascu... ORPHA:352731
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Dystonia, Hyperprolinemia OMIM:616299
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hernia, Hiatus hernia ORPHA:101009
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at... OMIM:613835
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Retinal detachment, Abnormal eyelash morph... ORPHA:3437
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal refle... OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Obesity And Hypopigmentation
Red hair OMIM:620195
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... OMIM:618173
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... OMIM:312600
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79431
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia ORPHA:95715
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Dystonia, Hyperma... OMIM:613280
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Joubert Syndrome 28
Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, A... OMIM:145350
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95717
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ... ORPHA:1390
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Ramon Syndrome
Abnormality of retinal pigmentation, Generalized hirsutism ORPHA:3019
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Opisthotonus, Increased serum bile acid concentration OMIM:619685
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Hypoplasia of the fovea, Albinism, Blue ir... OMIM:203100
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Laurence-Moon Syndrome
Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Posterior... ORPHA:364055
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Narp Syndrome
Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis... ORPHA:644
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Enhanced S-Cone Syndrome
Retinoschisis, Vitreoretinopathy, Macular edema, Pigmentary retinopathy OMIM:268100
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Hypoplasia of the fovea, Melanocytic nevus, Albinism, Fair hair, O... OMIM:619172
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia ORPHA:79303
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
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hirsutism, Chorioretinal coloboma, Melanocytic n... ORPHA:2481
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1173
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Central thinning of the outer nu... OMIM:619649
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95716
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia OMIM:232800
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy, Sparse hair OMIM:268020
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina... ORPHA:5
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Hypertrichosis OMIM:256000
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Graft Versus Host Disease
Hyperbilirubinemia, Dupuytren contracture, Fasciitis, Lipodystrophy ORPHA:39812
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod... OMIM:609033
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elbow flexion contracture, Elevated circulating long chain fatty acid concentration, Elevated cir... OMIM:608836
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Retinitis Pigmentosa 74
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:616562
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia OMIM:613404
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti... OMIM:615986
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation ORPHA:2518
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Prolidase Deficiency
Hirsutism, White forelock, Abnormal fingernail morphology, Abnormality of retinal pigmentation, L... ORPHA:742
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Umbilical hernia OMIM:149400
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation ORPHA:290
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Thick eyebrow, Coarse hair ORPHA:585
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy OMIM:300578
Joubert Syndrome 3
Highly arched eyebrow, Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:216866
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Dehydrated Hereditary Stomatocytosis
Abnormal blood potassium concentration, Increased circulating ferritin concentration, Increased t... ORPHA:3202
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia OMIM:208085
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:613673
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Tremor, Limb... OMIM:277900
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:90673
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal ... ORPHA:2715
Vici Syndrome
Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:1493
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Lathosterolosis
Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirubinemia OMIM:607330
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy ORPHA:79264
Lowry-Wood Syndrome
Abnormality of nail color, Abnormality of retinal pigmentation ORPHA:1824
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:268315
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Hyperbilirubinemia OMIM:606812
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Abnormal circul... ORPHA:14
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Sparse hair OMIM:614105
Bardet-Biedl Syndrome 17
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ... OMIM:615994
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma OMIM:253250
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Werner Syndrome
Premature graying of hair, Sparse scalp hair, White forelock, Abnormality of retinal pigmentation... ORPHA:902
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Squalene Synthase Deficiency
Optic nerve hypoplasia, Abnormality of hair pigmentation OMIM:618156
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... OMIM:608643
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinem... ORPHA:90674
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Athetosis, Camptodactyly, Elevate... OMIM:614866
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Vitiligo, Alopecia universalis, Perifoveal ring of hyperautofluorescence, Pigment... OMIM:240300
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Refsum Disease
Nail dysplasia, Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cohen Syndrome
Optic atrophy, Thick hair, Abnormal eyelash morphology, Long eyelashes, Abnormality of skin pigme... ORPHA:193
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:88628
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Generalized hirsutism, Retinal coloboma ORPHA:2510
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M... ORPHA:1969
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture ORPHA:464321
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Distichiasis OMIM:600462
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Umbilical hernia OMIM:218700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response OMIM:616881
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Ogden Syndrome
Torticollis, Inguinal hernia, Hyperbilirubinemia, Minimal subcutaneous fat, Umbilical hernia OMIM:300855
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Torticollis, Hyperbilirubinemia, Intention tremor, Head titubation, Dystonia OMIM:619475
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Freckling, Pigmentary retinopathy OMIM:610651
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ... ORPHA:85167
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Hypertrichosis OMIM:309900
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Long eye... ORPHA:79430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Posterior synechiae of the anterior chamber, Pigmentary retinopathy, Retinal dyspl... OMIM:613154
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Leukonychia, Retinal dysplasia, Abnormal hair morphology, Retinal dystrophy, Retin... ORPHA:2526
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Ar... OMIM:617301
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Optic disc pallor, Pigmentary retinopathy OMIM:617282
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Thick hair, Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Chromosome 6Pter-P24 Deletion Syndrome
Frontal upsweep of hair, Pigmentary retinopathy OMIM:612582
Myopathy, Mitochondrial, And Ataxia
Thick hair, Pigmentary retinopathy OMIM:617675
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Inguinal hernia OMIM:613610
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Congenital Erythropoietic Porphyria
Scarring, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Scarring... ORPHA:79277
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots OMIM:214110
Brittle Cornea Syndrome
Retinal detachment, Abnormality of hair pigmentation ORPHA:90354
Aceruloplasminemia
Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation ORPHA:48818
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Exaggerated startle response OMIM:617864
Liver Disease, Severe Congenital
Inguinal hernia, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia... OMIM:619991
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Unconjugated hyperbilirubinemia OMIM:618278
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypoplastic fingernail, Hyperconvex fingernails ORPHA:192
Ramon Syndrome
Optic disc pallor, Hypertrichosis, Pigmentary retinopathy OMIM:266270
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Degcags Syndrome
Hyperbilirubinemia, Hiatus hernia OMIM:619488
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Inguinal hernia, Unconjugated hyperbilirubinemia OMIM:613658
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Hyperbilirubinemia, Elbow flexion contracture, Hip contracture, Fle... OMIM:210710
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment, Sparse scalp hair ORPHA:394
Aicardi Syndrome
Optic atrophy, Retinal detachment, Sparse lateral eyebrow, Abnormality of skin pigmentation, Abno... ORPHA:50
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy... ORPHA:845
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Hardikar Syndrome
Hyperbilirubinemia, Umbilical hernia OMIM:301068
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Retinoblastoma
Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir... ORPHA:790
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... ORPHA:167
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Flexion contracture, Exaggerated startle resp... OMIM:253800
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Chorioretinal lacunae OMIM:618733
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Dystonia, Exaggerated startle response OMIM:620423
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Thick hair, Long eyelashes, Abnormality of retinal pigmentation, Hypertrichosis ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Vici Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism,... OMIM:242840
Mucopolysaccharidosis Type 3
Optic atrophy, Thick hair, Hirsutism, Pigmentary retinopathy, Synophrys, Generalized hirsutism, R... ORPHA:581
Syndromic Diarrhea
Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom... ORPHA:84064
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Dystonia, Exaggerated startle response ORPHA:521426
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Atypical Werner Syndrome
Premature graying of hair, Abnormal hair morphology, Abnormal hair quantity, White forelock, Frag... ORPHA:79474
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated cir... OMIM:619534
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Pigmentary retinopathy ORPHA:90321
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormal vitreous humor morphology, Retinal dysplasia, Hyperpigmentat... ORPHA:2556
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia OMIM:620376
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Exaggerated startle response ORPHA:79255
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia OMIM:620186
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Sandhoff Disease
Exaggerated startle response OMIM:268800
Neurofibromatosis Type 1
Hypopigmented skin patches, Inguinal freckling, Abnormal hair quantity, Multiple cafe-au-lait spo... ORPHA:636
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Pigmentary retinopathy, Brushfield spots OMIM:214100
Cockayne Syndrome
Optic atrophy, Retinal dystrophy, Retinal atrophy, Pigmentary retinopathy, Retinal hemorrhage, Op... ORPHA:191
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Cartilage-Hair Hypoplasia
Sparse eyebrow, Abnormality of retinal pigmentation, Sparse hair ORPHA:175
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Melas
Optic atrophy, Hypertrichosis, Vitiligo, Pigmentary retinopathy ORPHA:550
Cockayne Syndrome A
Optic atrophy, Retinal atrophy, Pigmentary retinopathy, Abnormality of skin pigmentation, Sparse ... OMIM:216400
Trisomy 18
Abnormal toenail morphology, Abnormality of retinal pigmentation, Iris coloboma ORPHA:3380
Cockayne Syndrome B
Optic atrophy, Abnormal hair morphology, Pigmentary retinopathy, Hypoplasia of the iris, Abnormal... OMIM:133540
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Alstrom Syndrome
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Alopecia OMIM:203800
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... ORPHA:447
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Retinal degeneration, Pigme... ORPHA:79282
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Pigmentary retinopathy OMIM:618460
Nijmegen Breakage Syndrome
Cafe-au-lait spot, Retinal pigment epithelial mottling, Progressive vitiligo OMIM:251260
Mucopolysaccharidosis Type 2
Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme... ORPHA:580
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Iris nevus, Cystoid macular edema, Chorioretinal scar, Retinal vasc... ORPHA:91500
Cystinosis, Nephropathic
Hypopigmentation of hair, Hypopigmentation of the skin, Retinopathy, Retinal pigment epithelial m... OMIM:219800
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Hyperpigmentation of the skin OMIM:234200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation ORPHA:466768
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme... ORPHA:217085
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Pigmentary retinopathy ORPHA:404454
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme... ORPHA:217093
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Iris coloboma OMIM:309801
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Proteus Syndrome
Irregular hyperpigmentation, Retinal hamartoma, Abnormality of the nail, Retinal nonattachment, M... ORPHA:744
Pearson Syndrome
Cafe-au-lait spot, Pigmentary retinopathy, Hyperpigmentation of the skin ORPHA:699
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Sparse scalp hair, Sparse hair OMIM:606721
Johanson-Blizzard Syndrome
Hypocalcemia, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration OMIM:243800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Dystonia, Decreased circulating iron concentration, Exaggerated startle response ORPHA:438213
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Optic disc hypoplasia, Hirsutism, Sparse scalp hair, Synophrys, Aplasia/Hypoplasia... ORPHA:3455
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Pmel

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 Pmel.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pmeltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pmeltm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pmeltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pmeltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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