Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

42 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation 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
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm... OMIM:303100
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
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
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ... OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-growing hair... ORPHA:170
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Tremor ORPHA:79234
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... 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
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... 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
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- ... OMIM:601706
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy 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
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... 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
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo... OMIM:275400
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... 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
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... 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, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystrophy, Bone ... OMIM:614500
Eem Syndrome
Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr... ORPHA:1897
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen... OMIM:251270
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair ORPHA:1067
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Abnormality of retinal pigmentation, Uncombable hair ORPHA:1264
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Heimler Syndrome 1
Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Retinopathy ORPHA:79476
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Sparse hair ORPHA:3363
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Dystonia, Increased total bilirubin, Hyperprolinemia OMIM:616299
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hyperbilirubinemia, Hernia ORPHA:101009
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Ret... ORPHA:3437
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... 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
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... 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
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Obesity And Hypopigmentation
Red hair OMIM:620195
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration 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
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
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, Hypermanganesemia, Unconjugated hyperbilirubinemia... OMIM:613280
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Joubert Syndrome 28
Highly arched eyebrow, Pigmentary retinopathy, Optic disc pallor OMIM:617121
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... 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, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95717
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen OMIM:204000
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Sjögren-Larsson Syndrome
Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Ramon Syndrome
Generalized hirsutism, Abnormality of retinal pigmentation ORPHA:3019
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Hypoplasia of the fovea, Absent skin pigmentation, Blue irides, Albi... OMIM:203100
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal arteriola... OMIM:600132
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy 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
Posterior synechiae of the anterior chamber, Retinal pigment epithelial mottling, Abnormal macula... ORPHA:364055
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy 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, White forelock, Heterochromia iridis, 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
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris transillum... OMIM:619172
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation 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, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... 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
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increased serum bile acid ... OMIM:227810
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1173
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial... 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
Hiatus hernia, Neonatal hyperbilirubinemia OMIM:609727
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of the fundus, Premature gray... OMIM:611584
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy OMIM:268020
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... ORPHA:3008
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy 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
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy, Hypertrichosis OMIM:256000
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness 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
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Chorioretinal atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Graft Versus Host Disease
Hyperbilirubinemia, Lipodystrophy, Dupuytren contracture, Fasciitis ORPHA:39812
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:609033
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatinine concentrati... OMIM:608836
Zika Virus Disease
Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions 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
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... OMIM:601777
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia OMIM:613404
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
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
Abnormal eyelash morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Prolidase Deficiency
Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Low anterior... ORPHA:742
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Exaggerated startle response 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, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Coarse hair, Thick eyebrow ORPHA:585
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... 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
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
Wilson Disease
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hand tremor, Decreased circulating ceruloplasmi... OMIM:277900
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia ORPHA:90673
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Vici Syndrome
Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Abnormal macula... ORPHA:1493
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
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
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Abnormality of nail color ORPHA:1824
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Fumarase Deficiency
Hyperbilirubinemia, Reduced subcutaneous adipose tissue OMIM:606812
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Retinal pigment epithelial mottling OMIM:614105
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, 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
Abnormal hair whorl, Premature graying of hair, White forelock, Abnormality of retinal pigmentati... ORPHA:902
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Optic nerve hypoplasia OMIM:618156
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Pigmentary retinopathy, Vitiligo, Nail dystrophy, Perifoveal ring... OMIM:240300
Refsum Disease
Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cohen Syndrome
Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h... ORPHA:193
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Micro Syndrome
Generalized hirsutism, Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Macular h... OMIM:214500
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture ORPHA:464321
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Distichiasis, Pigmentary retinopathy OMIM:600462
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia OMIM:218700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
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
Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Torticollis, Minimal subcutaneous fat OMIM:300855
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia, Head titubation, Torticollis, Dystonia, Intention tremor, Isometric tremor OMIM:619475
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Freckling OMIM:610651
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,... ORPHA:85167
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Hypertrichosis OMIM:309900
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Retinal dysplasia, Posterior synechiae of the anterior cha... OMIM:613154
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Abnormal hair morphology, Leukonychia, Abnormalit... ORPHA:2526
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion contracture, Ar... OMIM:617301
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Pigmentary retinopathy, Optic atrophy OMIM:617282
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, Thick hair ORPHA:502423
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Frontal upsweep of hair OMIM:612582
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Thick hair OMIM:617675
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Inguinal hernia OMIM:613610
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Pearson Marrow-Pancreas Syndrome