Gene Summary

Name:
solute carrier family 24, member 5
Synonyms:
NCX5,  NCKX5,  F630045L20Rik,  Oca6

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
abnormal coat/hair pigmentation Slc24a5tm1b(KOMP)Mbp HOM   Early adult 4.81×10-08
abnormal iris transillumination Slc24a5tm1b(KOMP)Mbp HOM Early adult 1.97×10-16
increased circulating sodium level Slc24a5tm1b(KOMP)Mbp HOM Early adult 3.52×10-08
impaired righting response Slc24a5tm1b(KOMP)Mbp HOM Early adult 2.41×10-07
increased grip strength Slc24a5tm1b(KOMP)Mbp HOM   Early adult 7.68×10-06
decreased prepulse inhibition Slc24a5tm1b(KOMP)Mbp HOM Early adult 4.41×10-08
decreased fasting circulating glucose level Slc24a5tm1b(KOMP)Mbp HOM Early adult 1.61×10-09
abnormal retina morphology Slc24a5tm1b(KOMP)Mbp HOM Early adult 4.19×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland  Section images heterozygote 0.0% (0 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)

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%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

7 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Slc24a5 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 Slc24a5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal foveal morphology on macular OCT, Abnormal fundus morp... ORPHA:370097
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Hypoplasia of the fovea, Fair hair OMIM:113750

The table below shows human diseases predicted to be associated to Slc24a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... OMIM:619947
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, Congenital sensorineural hea... OMIM:103500
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ... ORPHA:79435
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc... OMIM:193510
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti... OMIM:619165
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Hea... ORPHA:42665
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Albinism-Deafness Syndrome
Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp... OMIM:300700
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613265
Ermine Phenotype
Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation... OMIM:227010
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Ocular, Type I
Depigmented fundus, Giant melanosomes in melanocytes, Hypoplasia of the fovea, Ocular albinism OMIM:300500
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, S... ORPHA:999
X-Linked Recessive Ocular Albinism
Astigmatism, Giant melanosomes in melanocytes, Iris hypopigmentation, Abnormal pupil morphology, ... ORPHA:54
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Hypopigmentation of the skin, Ocular albinism OMIM:614171
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation, Hearing impairment, Rod-cone dystrophy OMIM:300719
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi... OMIM:203200
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Hearing impairmen... ORPHA:241
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79431
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Hypoplasia of the semicircular canal, Sens... OMIM:611584
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Retinopathy, Iris hypopigmentation, Partial albinism ORPHA:79476
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the fundus, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Oculocutaneous Albinism Type 3
Blue irides, Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentatio... ORPHA:79433
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:277580
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Cho... OMIM:601706
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ... ORPHA:2885
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal foveal morphology on macular OCT, Abnormal fundus morp... ORPHA:370097
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... ORPHA:998
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Sensorineural he... ORPHA:895
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Hypoplasia of the fovea, Melanocytic nevus, Albinism, Fair hair, O... OMIM:619172
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment, Heterochromia iridis OMIM:616460
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Oculocutaneous Albinism Type 1
Iris transillumination defect, Optic nerve misrouting, Abnormal morphology of the choroidal vascu... ORPHA:352731
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Albinism, Oculocutaneous, Type Ia
Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Hypoplasia of the fovea, Albi... OMIM:203100
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormal... OMIM:251270
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Optic nerve misrouting, Macular hypopigmentation, Hyp... ORPHA:79432
Hermansky-Pudlak Syndrome 4
Albinism, Hypoplasia of the fovea, Ocular albinism OMIM:614073
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Retinal degeneration, Pigmenta... OMIM:275400
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Retinal degeneration, ... OMIM:618889
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Hypoplasia of the fovea, Fair hair OMIM:113750
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Macular dystrophy, Hypopigmentation of hair, Hypopigmen... ORPHA:33445
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Silver-gray hair, Myopic astigmatism, Generalized hyp... OMIM:614077
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Hearing impairment, Iris hypopigmentation, Cataract, Oc... ORPHA:2720
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Albinism, Hypoplasia of the fovea, Ocular albinism OMIM:614074
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling OMIM:300814
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology ORPHA:2786
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Anonychia With Flexural Pigmentation
Macular telangiectasia, Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Anony... ORPHA:69125
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Sensorineural hearing impairment, Heteroch... OMIM:148820
Phenylketonuria
Cataract, Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Sensorineura... ORPHA:3214
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Gemignani Syndrome
Hypopigmented skin patches, Sensorineural hearing impairment ORPHA:2074
Usher Syndrome Type 3
Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypopigmentation... ORPHA:231183
Leber Congenital Amaurosis With Early-Onset Deafness
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Peri... OMIM:617879
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Retinal detachment, Sensorineural hearing ... ORPHA:3437
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epitheliu... ORPHA:1433
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Synophrys, White forelock, Hypoplastic iris stro... OMIM:193500
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormal helix morphology, Ectopia lentis, Abnormality of retinal pigmentation, Fingernail dyspla... ORPHA:1259
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cyst... OMIM:611040
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph... ORPHA:41751
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Leber Congenital Amaurosis 2
Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara... OMIM:204100
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Heterochromia iridis, Synophrys, Abnormality of retinal pigmen... ORPHA:1390
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attached earlobe, Attenuation of reti... OMIM:616108
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
3-Methylglutaconic Aciduria Type 4
Cataract, Hearing impairment, Iris hypopigmentation ORPHA:67048
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Sensorineural ... OMIM:310600
Hermansky-Pudlak Syndrome
Astigmatism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphol... ORPHA:79430
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Hermansky-Pudlak Syndrome 10
Macrotia, Albinism, Low-set ears, Ocular albinism OMIM:617050
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Eem Syndrome
Macular dystrophy, Sparse scalp hair, Absent eyebrow, Retinopathy, Sparse body hair, Abnormality ... ORPHA:1897
Usher Syndrome Type 1
Cataract, Sensorineural hearing impairment, Iris hypopigmentation, Abnormal cochlea morphology ORPHA:231169
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Hearing impairmen... ORPHA:897
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation, Uncombable hair, Sparse hair ORPHA:1264
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot... ORPHA:411527
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613266
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Stargardt Disease
Retinal thinning, Macular degeneration, Abnormality of macular pigmentation, Yellow/white lesions... ORPHA:827
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism OMIM:300843
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Sensorineural heari... OMIM:618144
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Hearing impairment, Pigmentary retinopathy OMIM:619090
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Spotty hypo... ORPHA:79399
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Abnormal antihelix morphology... ORPHA:85194
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Retinopathy, Abnormality of retinal pigmentation, Generali... ORPHA:816
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Congenital Rubella Syndrome
Microphthalmia, Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigment... ORPHA:290
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp... OMIM:249310
Leber Congenital Amaurosis
Keratoconus, Abnormal optic disc morphology, Hearing impairment, Abnormality of retinal pigmentat... ORPHA:65
Hermansky-Pudlak Syndrome 6
Iris transillumination defect, Absent foveal reflex, Hypopigmentation of the skin, Hearing impair... OMIM:614075
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Sensorineural hearing impairment, Corneal opacity, Choroideremia, Aplas... ORPHA:2719
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Sparse hair, Retinal degeneration, Pigmentary retinopathy, Alopecia ORPHA:3363
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Protruding ear, Hyperpigmentation of the skin, Onychogryposis of fing... ORPHA:2251
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Hermansky-Pudlak Syndrome 2
Recurrent otitis media, Generalized hypopigmentation, Low-set ears, Posteriorly rotated ears, Abe... OMIM:608233
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Microtia, Cupped ear, Ocular albinism ORPHA:1352
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Generalized hypopigmentation, Microcornea, Posteri... OMIM:617306
Leber Congenital Amaurosis 1
Keratoconus, Optic disc drusen, Sensorineural hearing impairment, Fundus atrophy, Attenuation of ... OMIM:204000
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Edinburgh Malformation Syndrome
Hirsutism, Low-set ears, Low posterior hairline, Synophrys, Aplasia/Hypoplasia affecting the eye,... ORPHA:1895
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Diprosopus
Abnormal pinna morphology, Abnormality of retinal pigmentation ORPHA:1681
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Xeroderma Pigmentosum Variant
Keratitis, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the ... ORPHA:90342
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Band keratopathy, Abnormal pinna morphology, Hypoplasia of th... OMIM:614195
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Cofs Syndrome
Optic atrophy, Microphthalmia, Sensorineural hearing impairment, Abnormality of retinal pigmentat... ORPHA:1466
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Silver-gray hair, Abnormal eyelash morphol... ORPHA:381
Ramon Syndrome
Abnormal anterior chamber morphology, Sensorineural hearing impairment, Conductive hearing impair... ORPHA:3019
Kearns-Sayre Syndrome
Hearing impairment, Abnormality of retinal pigmentation ORPHA:480
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Linear hyperpigmentation, Hypoplasia of the iris, Sclerocornea, Limbal dermoid, A... OMIM:613001
Phenylketonuria
Hypopigmentation of the skin ORPHA:716
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen... ORPHA:79133
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Heimler Syndrome 1
Macular dystrophy, Leukonychia, Sensorineural hearing impairment, Beau's lines, Retinal pigment e... OMIM:234580
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness, Abnormality of the internal auditory canal, Progressive se... ORPHA:90646
Vici Syndrome
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmentation of the skin, Low-set... OMIM:242840
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613581
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto... OMIM:618173
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Juvenile Paget Disease
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Ring Chromosome 14 Syndrome
Low-set ears, Pigmentary retinopathy OMIM:616606
Riboflavin Transporter Deficiency
Abnormality of macular pigmentation, Iris hypopigmentation, Progressive hearing impairment, Optic... ORPHA:97229
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hirsutism, Chorioretinal coloboma, Melanocytic n... ORPHA:2481
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morphology, Generaliz... ORPHA:1816
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr... ORPHA:263479
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Macular degeneration, Abnormality of macular pigmentation, Sparse scalp hair, Melan... ORPHA:1573
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Gms Syndrome
Rieger anomaly, Low-set ears ORPHA:2090
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Increased LDL cholesterol concentration, Developmental cataract, Fair hair, Gait ataxia OMIM:618808
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Bilateral sensorineural hearing impairment, Low-set ears, Rod-cone dystrophy, Pigm... OMIM:264470
Aland Island Eye Disease
Giant melanosomes in melanocytes, Hypopigmentation of the fundus, Astigmatism, Hypoplasia of the ... OMIM:300600
Vitreoretinochoroidopathy
Microphthalmia, Vitreous hemorrhage, Retinal detachment, Microcornea, Retinal arteriolar occlusio... OMIM:193220
Laurence-Moon Syndrome
Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Short Syndrome
Abnormal anterior chamber morphology, Sensorineural hearing impairment, Corneal opacity, Megaloco... ORPHA:3163
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Joubert Syndrome 28
Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Aniridia, Optic disc hypoplasia, Sensori... ORPHA:233
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Sensorineural hearing impairment, Low-set ears, Hypoplasia... OMIM:222448
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Anonychia, Brushfield spots ORPHA:1784
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation... ORPHA:158681
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... OMIM:600132
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Neonatal Adrenoleukodystrophy
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormality o... ORPHA:44
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Microco... OMIM:609049
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Optic atrophy, Macrotia, Abnormality of retinal pigmentation, Abnorma... ORPHA:2715
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches, Sensorineural hearing impairment ORPHA:3239
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Abnormal antihelix morphology, Sensorineural hearing... ORPHA:3378
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Abnormality of skin pigmentation OMIM:613216
Classic Phenylketonuria
Cataract, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Narp Syndrome
Hearing impairment, Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinal arteriolar t... ORPHA:644
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, Small nail, Hypopigmentation of the skin, Low-set ears, Hypoplasia... OMIM:251300
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Sea-Blue Histiocytosis
Retinopathy, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, A... OMIM:145350
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Frontal balding, Abnormal antihelix morphology, Cafe-au-lait spot, Protruding ear, E... ORPHA:3041
Congenital Toxoplasmosis
Hearing impairment, Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Limbal dermoid, Brushfield spots, Aplasia/Hypoplasia of the eyebrow,... ORPHA:1791
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Retinitis Pigmentosa 37
Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph... OMIM:611131
Juvenile Xanthogranuloma
Uveitis, Iritis, Multiple cafe-au-lait spots, Asymmetry of iris pigmentation ORPHA:158000
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten... OMIM:617547
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Hypopigmentation of the skin, Abnormality of hair texture OMIM:601957
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Canavan Disease
Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation ORPHA:141
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Tonne-Kalscheuer Syndrome
Concave nail, Fine hair, Blue irides, Small nail OMIM:300978
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Macrotia, Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Nivelon-Nivelon-Mabille Syndrome
Nail dysplasia, Optic disc coloboma, Hypoplasia of the iris OMIM:600092
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti... OMIM:615233
Hypomelanosis Of Ito
Cataract, Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Hypoadrenocorticism, Familial
Hyperkalemia, Abnormality of skin pigmentation, Hypoglycemia, Hyponatremia OMIM:240200
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Vici Syndrome
Optic atrophy, Sensorineural hearing impairment, Hypopigmentation of the skin, Abnormality of ret... ORPHA:1493
Focal Dermal Hypoplasia
Microphthalmia, Iris coloboma, Abnormality of the nail, Corneal opacity, Low-set ears, Hypoplasia... ORPHA:2092
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low plasma cit... OMIM:615751
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Usher Syndrome Type 2
Cataract, Sensorineural hearing impairment, Iris hypopigmentation ORPHA:231178
Proteus-Like Syndrome
Irregular hyperpigmentation, Retinal detachment, Heterochromia iridis, Cataract, Limbal dermoid, ... ORPHA:2969
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy, Sparse hair OMIM:268020
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Chondrodysplasia-Difference Of Sex Development Syndrome
Macrotia, Chorioretinal coloboma, Hypoplasia of the iris ORPHA:1422
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Mixed astigmatism, Bone spicule pigmentation of the retina,... OMIM:617023
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1173
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Abnormality of retinal pigmentation, Protruding ear, Reti... OMIM:108145
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Sensorineural hearing impairment... ORPHA:2479
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A... ORPHA:79402
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Transient hearing i... ORPHA:448237
Noonan Syndrome 13
Multiple lentigines, Recurrent otitis media, Broad eyebrow, Highly arched eyebrow, Low-set ears, ... OMIM:619087
Cockayne Syndrome B
Optic atrophy, Microphthalmia, Abnormal hair morphology, Sensorineural hearing impairment, Microc... OMIM:133540
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Sensorineural hearing impairment, Abnormality of retinal pigmentation ORPHA:3085
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair OMIM:269920
Al-Raqad Syndrome
Low-set ears, Hypopigmentation of the skin OMIM:616459
Axenfeld-Rieger Syndrome, Type 3
Sensorineural hearing impairment, Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae... OMIM:602482
Trisomy 12P
Abnormal antihelix morphology, Low-set ears, Aplasia/Hypoplasia affecting the eye, Thick eyebrow,... ORPHA:1699
Wyburn-Mason Syndrome
Hearing impairment, Iris hypopigmentation, Tinnitus, Retinal vascular malformation ORPHA:53719
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Pigmentary retinopathy OMIM:619473
Curry-Jones Syndrome
Hypopigmented skin patches, Microphthalmia, Generalized hirsutism, Optic disc coloboma, Iris colo... ORPHA:1553
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Rieger anomaly, Sensorineural hearing impairment, Abnormal... OMIM:109120
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Corneal opacity, Atrichia, Congenital ab... ORPHA:1867
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Hypopigmentation, Organomegaly, And Delayed Myelination And Development