Gene Summary

Name:
dopachrome tautomerase
Synonyms:
TRP-2,  Tyrp2,  Tyrp-2,  TRP2,  tyrosinase-related protein-2

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 circulating phosphate level Dcttm1b(KOMP)Mbp HOM Early adult 2.53×10-05
increased circulating bilirubin level Dcttm1b(KOMP)Mbp HOM Early adult 1.69×10-05
abnormal skin morphology Dcttm1b(KOMP)Mbp HOM Early adult 0.00
abnormal coat/hair pigmentation Dcttm1b(KOMP)Mbp HOM Early adult 1.05×10-17

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (2 of 4)
Eye  Section images heterozygote 25% (1 of 4)
Ileum  Section images heterozygote 25% (1 of 4)
Jejunum  Section images heterozygote 25% (1 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Skin  Section images heterozygote 25% (1 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Tongue  Section images heterozygote 25% (1 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 25% (1 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 50% (2 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Dct mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigmentation of the skin, Hypo... OMIM:619165

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Iris transillumination defect, Hypopigmentation of the skin, Hypo... OMIM:619165
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia OMIM:237450
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Hypoplastic iris st... OMIM:193510
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Loose Anagen Syndrome
Abnormal hair whorl, Abnormal hair morphology, Iris coloboma ORPHA:168
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
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
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu... ORPHA:1433
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the fundus, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Chorioretinal coloboma, Patchy hypo- an... OMIM:601706
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Edinburgh Malformation Syndrome
Frontal hirsutism, Neonatal hyperbilirubinemia OMIM:129850
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ... ORPHA:79435
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal degeneration, Pigmenta... OMIM:275400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Oculocutaneous Albinism Type 1
Iris transillumination defect, Abnormal morphology of the choroidal vasculature, Generalized hypo... ORPHA:352731
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Eem Syndrome
Macular dystrophy, Sparse scalp hair, Absent eyebrow, Retinopathy, Sparse body hair, Abnormality ... ORPHA:1897
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling, Leukonychia, Beau's lines OMIM:234580
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at... OMIM:613835
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Uncombable hair, Sparse hair ORPHA:1264
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I... ORPHA:999
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Neonatal hyperbilirubinemia, Sparse hair, Pigmentary retinopathy, Alopecia ORPHA:3363
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Freckling, Abnormal pupil m... ORPHA:54
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... OMIM:618173
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Astigmatism ORPHA:231183
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Synophrys, White for... OMIM:148820
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... OMIM:312600
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Albinism, Oculocutaneous, Type Ia
Blue irides, Astigmatism, Hypopigmentation of hair, White hair, Albinism, Absent skin pigmentatio... OMIM:203100
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Phenylketonuria
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,... ORPHA:3214
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Hypoplasia of the fovea, Fair hair OMIM:113750
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Melanocytic nevus, Albinism, Fair hair, Ocular albinism OMIM:619172
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology ORPHA:2786
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Macular dystrophy, Hypopigmentation of hair, Hypopigmen... ORPHA:33445
Joubert Syndrome 28
Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Abnormality of retinal pigmentation ORPHA:1259
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ... ORPHA:1390
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis OMIM:268100
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Laurence-Moon Syndrome
Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Edinburgh Malformation Syndrome
Hirsutism, Low posterior hairline, Synophrys, Generalized hirsutism, Brushfield spots ORPHA:1895
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Autosomal Dominant Hypocalcemia
Irregular hyperpigmentation, Hypocalcemia, Abnormality of the nail, Abnormal fingernail morpholog... ORPHA:428
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Ramon Syndrome
Abnormality of retinal pigmentation, Generalized hirsutism ORPHA:3019
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Retinal detachment, Abnormal eyelash morph... ORPHA:3437
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Abnormal eyelash morphol... ORPHA:381
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Hypoplastic iris stroma, White forelock, Synophr... OMIM:193500
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Myopic astigmatism, Silver-gray hair, Generalized hyp... OMIM:614077
Infantile Sialic Acid Storage Disease
Fair hair, Hypopigmentation of the skin, Conjugated hyperbilirubinemia OMIM:269920
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Albinism, Ocular albinism OMIM:614074
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hyperpigmentation of t... OMIM:618892
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1173
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Iris hypopigmentation, Cataract, Ocular albinism ORPHA:2720
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Absent inner eyelashes, Microcornea, Brushfield spots, Catarac... ORPHA:1791
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Low posterior hairline, Iris hypopigmentation, Abnormal eyebrow m... ORPHA:85194
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Tonne-Kalscheuer Syndrome
Concave nail, Fine hair, Blue irides, Small nail OMIM:300978
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hirsutism, Chorioretinal coloboma, Melanocytic n... ORPHA:2481
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina... ORPHA:5
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Juvenile Xanthogranuloma
Uveitis, Iritis, Multiple cafe-au-lait spots, Asymmetry of iris pigmentation ORPHA:158000
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... ORPHA:263479
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T... OMIM:619649
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy, Sparse hair OMIM:268020
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Iris transillumination defect, Microcornea, Generalized hypopigmentation OMIM:617306
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Bachmann-Bupp Syndrome
Small nail, Hyperbilirubinemia, Sparse scalp hair, Absent eyebrow, Sparse eyelashes OMIM:619075
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Early balding, Blue irides, Frontal balding ORPHA:3041
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Obesity And Hypopigmentation
Red hair OMIM:620195
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
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina ORPHA:100996
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides, Melanocytic nevus OMIM:101800
Noonan Syndrome 13
Multiple lentigines, Broad eyebrow, Highly arched eyebrow, Low posterior hairline, Cafe-au-lait s... OMIM:619087
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Hypophosphatemia ORPHA:2611
Late-Onset Retinal Degeneration
Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,... ORPHA:67042
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti... OMIM:615986
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Leigh Syndrome
Optic atrophy, Hypertrichosis, Pigmentary retinopathy OMIM:256000
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Anonychia, Brushfield spots ORPHA:1784
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormal eyelash morphology, Abnormality of retinal pigmentation ORPHA:2518
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Megalocornea, Hypoplasia of the iris,... OMIM:249310
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy OMIM:300578
Hermansky-Pudlak Syndrome
Astigmatism, Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopig... ORPHA:79430
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Corneal opacity, Choroideremia, Iris hypopigmentation, Cataract, Ocular... ORPHA:2719