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Gene: Dct MGI:102563

Gene Summary

Name:

dopachrome tautomerase

Synonyms:

TRP-2, Tyrp2, Tyrp-2, TRP2, tyrosinase-related protein-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal coat/hair pigmentation	Dct^{tm1b(KOMP)Mbp}	HOM	Early adult	1.05×10^-17
increased circulating phosphate level	Dct^{tm1b(KOMP)Mbp}	HOM	Early adult	2.53×10^-05
abnormal skin morphology	Dct^{tm1b(KOMP)Mbp}	HOM	Early adult	0.00
increased circulating bilirubin level	Dct^{tm1b(KOMP)Mbp}	HOM	Early adult	1.69×10^-05

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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	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)
Epididymis	N/A	heterozygote	50% (2 of 4)
Esophagus	N/A	heterozygote	0.0% (0 of 4)
Eye	N/A	heterozygote	25% (1 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
Ileum	N/A	heterozygote	25% (1 of 4)
Jejunum	N/A	heterozygote	25% (1 of 4)
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)
Penis	N/A	heterozygote	25% (1 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)
Prostate gland	N/A	heterozygote	25% (1 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
Skin	N/A	heterozygote	25% (1 of 4)
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)
Testis	N/A	heterozygote	50% (2 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	0.0% (0 of 4)
Tongue	N/A	heterozygote	25% (1 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%

XRay Images Whole Body Lateral Orientation

10 Images

View 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.

Human diseases associated with Dct (1 diseases)
Human diseases predicted to be associated with Dct (749 diseases)

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		Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm...	OMIM:619165

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

Disease	Matching phenotypes	Source
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	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	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	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, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	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	Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the fundus, Numm...	OMIM:303100
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm...	OMIM:619165
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Macular dystrophy, ...	OMIM:608051
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Tietz Syndrome	Hypopigmentation of the skin, White eyebrow, Abnormal anterior chamber morphology, Abnormality of...	ORPHA:42665
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Abnormality of skin pigmentation	OMIM:237450
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Retinitis Pigmentosa 54	Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina...	OMIM:613428
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat...	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	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy	OMIM:172870
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Retinitis Pigmentosa 76	Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede...	OMIM:617123
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	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	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Woolly Hair	Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr...	ORPHA:170
Retinitis Pigmentosa 7	Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys...	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	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	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	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, 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, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Retinitis Pigmentosa 84	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:618220
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus	OMIM:606952
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ...	OMIM:601706
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Edinburgh Malformation Syndrome	Frontal hirsutism, Neonatal hyperbilirubinemia	OMIM:129850
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Retinitis Pigmentosa 27	Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior...	OMIM:613750
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Retinal degeneration, Lo...	OMIM:275400
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Retinitis Pigmentosa 6	Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy	OMIM:312612
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Beaten bronze macular sheen, Cone/cone-rod dystrophy, Bone ...	OMIM:614500
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Choroideremia	ORPHA:99000
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Abnormal morphology of the choroidal...	ORPHA:352731
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Eem Syndrome	Sparse body hair, Retinopathy, Abnormality of retinal pigmentation, Absent eyebrow, Macular dystr...	ORPHA:1897
Progressive Hemifacial Atrophy	Heterochromia iridis, Irregular hyperpigmentation	ORPHA:1214
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, 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	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe...	ORPHA:1067
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen...	OMIM:251270
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Heimler Syndrome 1	Leukonychia, Beau's lines, Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Bietti Crystalline Dystrophy	Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a...	ORPHA:41751
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo...	ORPHA:897
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:620010
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat...	OMIM:611040
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Retinitis Pigmentosa 46	Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:612572
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti...	OMIM:613835
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Abnormality of retinal pigmentation, Uncombable hair	ORPHA:1264
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	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, Congenital stationary night blindness...	ORPHA:215
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Neonatal hyperbilirubinemia, Pigmentary retinopathy, Long eyelashes, Sparse hair	ORPHA:3363
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic...	ORPHA:79434
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:616108
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ...	OMIM:204100
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Retinitis Pigmentosa 77	Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen...	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, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal...	OMIM:608553
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ...	ORPHA:54
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Retinitis Pigmentosa 83	Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema...	OMIM:618173
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Retinitis Pigmentosa 43	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re...	OMIM:613810
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest...	OMIM:619868
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Retinitis Pigmentosa 10	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:180105
Retinitis Pigmentosa 2	Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c...	OMIM:312600
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Hy...	OMIM:611584
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi...	OMIM:203100
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Retinitis Pigmentosa 56	Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig...	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	Fair hair, Blue irides, Generalized hypopigmentation, Cataract	OMIM:261600
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu...	ORPHA:3214
Retinitis Pigmentosa 25	Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret...	OMIM:602772
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation	OMIM:113750
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect	OMIM:619172
Cone-Rod Dystrophy 8	Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali...	OMIM:605549
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of...	OMIM:145350
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology	ORPHA:2786
Intellectual Developmental Disorder And Retinitis Pigmentosa	Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p...	OMIM:618195
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o...	ORPHA:33445
Joubert Syndrome 28	Highly arched eyebrow, Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:300029
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration	OMIM:164500
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen	OMIM:204000
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Cone-Rod Dystrophy 10	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal arteriola...	OMIM:600132
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation	ORPHA:1259
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ...	ORPHA:1390
Sjögren-Larsson Syndrome	Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Retinitis Pigmentosa 51	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Edinburgh Malformation Syndrome	Hirsutism, Low posterior hairline, Generalized hirsutism, Brushfield spots, Synophrys	ORPHA:1895
Bile Acid Synthesis Defect, Congenital, 5	Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity	OMIM:616278
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94089
Autosomal Dominant Hypocalcemia	Alopecia, Irregular hyperpigmentation, Hyperphosphatemia, Hypomagnesemia, Abnormal fingernail mor...	ORPHA:428
Retinitis Pigmentosa 72	Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret...	OMIM:616469
Ramon Syndrome	Generalized hirsutism, Abnormality of retinal pigmentation	ORPHA:3019
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Retinitis Pigmentosa 60	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	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, Abnormal eyebrow morphology, Vitiligo, Ret...	ORPHA:3437
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:264470
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	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
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin...	ORPHA:381
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Retinitis Punctata Albescens	Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ...	ORPHA:52427
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,...	OMIM:193500
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve...	ORPHA:364055
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	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	Silver-gray hair, Myopic astigmatism, Ocular albinism, Astigmatism, Iris transillumination defect...	OMIM:614077
Infantile Sialic Acid Storage Disease	Hypopigmentation of the skin, Conjugated hyperbilirubinemia, Fair hair	OMIM:269920
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	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, Unconjugated hyperbilirubinemia, Increased circulating iron conc...	ORPHA:766
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Cone-Rod Dystrophy 2	Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat...	OMIM:120970
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia	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	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:257270
Harderoporphyria	Neonatal hyperbilirubinemia, Hyperpigmentation of the skin, Increased circulating ferritin concen...	OMIM:618892
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
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
Juvenile Paget Disease	Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation	ORPHA:2801
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple	ORPHA:1173
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:611131
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation	ORPHA:2720
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Acute Zonal Occult Outer Retinopathy	Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar...	ORPHA:284454
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:1791
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Aplasia/Hyp...	ORPHA:85194
Tonne-Kalscheuer Syndrome	Concave nail, Small nail, Fine hair, Blue irides	OMIM:300978
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ...	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 hair, Hypopigmentation of the skin	ORPHA:98795
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine...	OMIM:614300
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal m...	ORPHA:5
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation	ORPHA:834
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Iritis	ORPHA:158000
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A...	ORPHA:263479
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T...	OMIM:619649
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Sparse hair, Rod-cone dystrophy	OMIM:268020
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:266120
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	Iris transillumination defect, Cataract, Microcornea, Generalized hypopigmentation	OMIM:617306
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Bachmann-Bupp Syndrome	Small nail, Hyperbilirubinemia, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:619075
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Early balding, Frontal balding, Blue irides, Cafe-au-lait spot	ORPHA:3041
Cone-Rod Dystrophy 6	Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul...	OMIM:601777
Leigh Syndrome, Nuclear	Optic atrophy, Pigmentary retinopathy, Hypertrichosis	OMIM:256000
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, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:609033
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Autosomal Recessive Spastic Paraplegia Type 15	Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks	ORPHA:100996
Noonan Syndrome 13	Highly arched eyebrow, Hypertrichosis, Multiple lentigines, Low posterior hairline, Broad eyebrow...	OMIM:619087
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Acrodysostosis 1 With Or Without Hormone Resistance	Melanocytic nevus, Hyperphosphatemia, Blue irides	OMIM:101800
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Late-Onset Retinal Degeneration	Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ir...	ORPHA:67042
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Sparse scalp hair	ORPHA:2611
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
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615986
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	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	Abnormal eyelash morphology, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Zika Virus Disease	Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic...	ORPHA:448237
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79444
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	Retinal fold, Abnormality of retinal pigmentation	OMIM:108145
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal...	ORPHA:791
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Usher Syndrome Type 2	Iris hypopigmentation, Cataract	ORPHA:231178
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti...	OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Low anterior hairline, Iridodonesis, Iris transillumination...	OMIM:249310
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity	OMIM:613280
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:300578
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,...	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	Iris hypopigmentation, Cataract, Ocular albinism, Choroideremia, Corneal opacity, Hypopigmentatio...	ORPHA:2719
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Abnormality of the hairline, Hyperbilir...	OMIM:614886
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Congenital Bile Acid Synthesis Defect Type 2	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Prolidase Deficiency	Abnormal fingernail morphology, White forelock, Abnormality of retinal pigmentation, Low anterior...	ORPHA:742
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel...	OMIM:214500
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Colchicine Poisoning	Alopecia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blo...	ORPHA:31824
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79443
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Low posterior hairline, Neonatal hyperbilirubinemia, Cafe-au-lait spot, Low anterior hairline	ORPHA:73272
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypopig...	ORPHA:2715
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Optic atrophy, Coarse hair, Thick eyebrow	ORPHA:585
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Abnormal macula...	ORPHA:1493
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:268315
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Hermansky-Pudlak Syndrome 7	Albinism, Ocular albinism	OMIM:614076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Congenital Rubella Syndrome	Abnormality of retinal pigmentation	ORPHA:290
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232800
Noonan Syndrome 4	Sparse eyebrow, Blue irides, High anterior hairline, Curly hair	OMIM:610733
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Bardet-Biedl Syndrome 17	Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615994
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Zellweger Syndrome	Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots, Abnormal chorioretinal morpho...	ORPHA:912
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma	OMIM:214110
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Facial Spasm	Anisocoria	OMIM:134300
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia	ORPHA:1667
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypophosphatemia, Hypocalcemia	ORPHA:93160
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Proteus-Like Syndrome	Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Limbal de...	ORPHA:2969
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ...	OMIM:613843
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Cafe-au-lait spot, Aplasia/Hypoplasia of the eyebrow	ORPHA:293939
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia	ORPHA:95716
Refsum Disease	Nail dysplasia, Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Hypopigmentation of the skin, Fair hair, Astigmatism	ORPHA:72
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, White forelock, Abnormality of retinal pigmentati...	ORPHA:902
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Nail-Patella Syndrome	High anterior hairline, Toenail dysplasia, Fingernail dysplasia, Antecubital pterygium, Primary c...	ORPHA:2614
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Squalene Synthase Deficiency	Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E...	OMIM:618156
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia...	ORPHA:3008
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Micro Syndrome	Generalized hirsutism, Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity	ORPHA:284160
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia, Alopecia universalis	OMIM:277440
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Conjugated hyperbilirubinemia	OMIM:607765
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:241530
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Pigmentary retinopathy, Vitiligo, Nail dystrophy, Perifoveal ring...	OMIM:240300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Pyruvate Kinase Deficiency Of Red Cells	Unconjugated hyperbilirubinemia, Reduced haptoglobin level	OMIM:266200
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Partial albinism, Iris transillumination defect, A...	OMIM:614075
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Koolen-De Vries Syndrome	Abnormality of hair texture, Cataract, Iris hypopigmentation, Fair hair	OMIM:610443
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Cohen Syndrome	Optic atrophy, Long eyelashes, Thick eyebrow, Abnormality of retinal pigmentation, Low anterior h...	ORPHA:193
Cohen Syndrome	Optic atrophy, Thick eyebrow, Bull's eye maculopathy, Chorioretinal dystrophy, Bone spicule pigme...	OMIM:216550
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, Pigmentary retinopathy	OMIM:600462
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc	OMIM:617093
Glycogen Storage Disease Xii	Low posterior hairline, Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creat...	OMIM:611881
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	OMIM:264700
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Chor...	ORPHA:233
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia...	ORPHA:163746
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I...	ORPHA:3202
Sturge-Weber Syndrome	Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Iris coloboma, Co...	ORPHA:3205
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Brittle Cornea Syndrome 1	Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Keratoglobus	OMIM:229200
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:307800
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hypertrichosis	OMIM:309900
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy	OMIM:222300
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Freckling	OMIM:610651
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ...	ORPHA:85167
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia	ORPHA:348
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Concave nail, Antecubi...	OMIM:161200
Fetal Cytomegalovirus Syndrome	Conjugated hyperbilirubinemia	ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level	OMIM:613673
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Abnormal optic nerve morphology, Abnormal hair morphology, Leukonychia, Abnormalit...	ORPHA:2526
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Pigmentary retinopathy, Brushfield spots, Opacification of the corneal stroma	OMIM:214100
Familial Dysautonomia	Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity	ORPHA:1764
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration	OMIM:251880
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,...	OMIM:604292
Autoimmune Hepatitis	Vitiligo, Increased total bilirubin	ORPHA:2137
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Lathosterolosis	Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia	OMIM:607330
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Knobloch Syndrome 1	Band keratopathy, Horizontal eyebrow, Lens subluxation, Alopecia of scalp, Chorioretinal atrophy,...	OMIM:267750
Neuroocular Syndrome 1	Highly arched eyebrow, Lens coloboma, Microcornea, Cataract, Small nail, Peters anomaly, Long eye...	OMIM:619539
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood	OMIM:300908
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Microcornea, Low posterior hairline, Heterochromia iridis, Iris coloboma	ORPHA:2995
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair	OMIM:612582
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Pigmentary retinopathy, Small nail, Opacification of the corneal stroma, Hypoplastic ni...	OMIM:614866
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Rh Deficiency Syndrome	Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl...	OMIM:129900
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Neonatal hyperbilirubinemia, Lumbar hypertrichosis, Nail dystrophy, Low post...	ORPHA:163956
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy, Thick hair	ORPHA:502423
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Retinal dysplasia	OMIM:613154
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes	OMIM:609136
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Coffin-Lowry Syndrome	Hyperconvex fingernails, Optic atrophy, Abnormality of retinal pigmentation, Hypoplastic fingernail	ORPHA:192
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Osteopetrosis, Autosomal Recessive 5	Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk...	OMIM:219800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration	ORPHA:90673
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	ORPHA:289157
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Retinal flecks, Retinal degenerati...	ORPHA:157850
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Pigmentary retinopathy, Hypophosphatemia	ORPHA:411629
Aicardi Syndrome	Optic atrophy, Sparse lateral eyebrow, Chorioretinal coloboma, Optic disc coloboma, Abnormality o...	ORPHA:50
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation, Sparse scalp hair	ORPHA:394
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Hypertrichosis	OMIM:266270
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Degcags Syndrome	Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol...	OMIM:619488
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Aplasia/Hypoplasia of the nails, Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling	OMIM:618733
Hermansky-Pudlak Syndrome 10	Albinism, Ocular albinism	OMIM:617050
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Neurofibromatosis Type 1	Cataract, Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nev...	ORPHA:636
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Hyperpigmentation of the skin, Hyperch...	ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Hypertrichosis, Long eyelashes, Abnormality of retinal pigmentation, Thick hair	ORPHA:505248
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Dent Disease 1	Hypophosphatemia	OMIM:300009
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Abnormal circulating porphyrin concentration...	ORPHA:79277
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Noonan Syndrome	Coarse hair, Melanocytic nevus, Low posterior hairline, Blue irides, Abnormal hair quantity	ORPHA:648
Fibrous Dysplasia Of Bone	Multiple cafe-au-lait spots, Hypophosphatemia, Hypercalcemia, Large cafe-au-lait macules with irr...	ORPHA:249
Bardet-Biedl Syndrome 1	Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Hirsutism, Retinal deg...	OMIM:209900
Retinoblastoma	Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He...	ORPHA:790
Hermansky-Pudlak Syndrome 2	Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized hypopigmentation, Albinism	OMIM:608233
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De...	OMIM:277900
Mucopolysaccharidosis Type 3	Optic atrophy, Pigmentary retinopathy, Coarse hair, Hirsutism, Generalized hirsutism, Retinal deg...	ORPHA:581
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyebrow, Hyperbilirubinemia, Sparse eyelashes	OMIM:613610
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo...	ORPHA:2556
Pearson Syndrome	Pigmentary retinopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalanine...	ORPHA:699
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Hypermelanotic macule	ORPHA:90321
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypopigmentation of the skin, Melanocytic nevus, Hyperbilirubinemia, Thick eyebrow, Broad eyebrow...	OMIM:619475
Phace Syndrome	Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma	ORPHA:42775
Caroli Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:480520
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c...	ORPHA:79102
Cockayne Syndrome	Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal arteriolar constriction, Fine hair, Abno...	ORPHA:191
Mccune-Albright Syndrome	Hypophosphatemia, Large cafe-au-lait macules with irregular margins	ORPHA:562
Ogden Syndrome	Long eyelashes, Hyperbilirubinemia, Sparse eyebrow, Fine hair	OMIM:300855
Raine Syndrome	Highly arched eyebrow, Hypophosphatemia	OMIM:259775
Liver Disease, Severe Congenital	Dry hair, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperam...	OMIM:619991
Cartilage-Hair Hypoplasia	Sparse eyebrow, Sparse hair, Abnormality of retinal pigmentation	ORPHA:175
Reynolds Syndrome	Hyperbilirubinemia, Calcinosis	OMIM:613471
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Brittle Cornea Syndrome	Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph...	ORPHA:90354
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Dry hair, Retinal pigment epithelial mottling, Retinal atr...	OMIM:216400
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia	OMIM:557000
Melas	Optic atrophy, Pigmentary retinopathy, Vitiligo, Hypertrichosis	ORPHA:550
Oculocerebrorenal Syndrome Of Lowe	Fine hair, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Gene...	ORPHA:534
Trisomy 18	Abnormality of retinal pigmentation, Abnormal toenail morphology	ORPHA:3380
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse eyebrow, Absent nipple, Small nail, Nail dystrophy, Hypoplastic nipples, Unconjugated hype...	OMIM:620186
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Caroli Disease	Conjugated hyperbilirubinemia	ORPHA:53035
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Retinal degeneration,...	ORPHA:79282
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyebrow, Fine hair, Hyperbilirubinemia, Sparse eyelashes, Sparse hair, Sparse scalp hair	OMIM:210710
Vici Syndrome	Cataract, Hypopigmentation of the skin, Ocular albinism, Developmental cataract, Albinism, Hypopi...	OMIM:242840
Trisomy 8P	Low posterior hairline, Astigmatism, Heterochromia iridis	ORPHA:264450
Mucopolysaccharidosis Type 2	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Retinal degeneration, Abnormal f...	ORPHA:580
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Hypophosphatemia, Hypocalcemia	ORPHA:667
Alstrom Syndrome	Alopecia, Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy	OMIM:203800
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Pigmentary retinopathy, Trichiasis	OMIM:618460
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Dry hair, Abnormal hair morphology, Abnormality of skin pi...	OMIM:133540
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:255210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia	OMIM:613658
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Nijmegen Breakage Syndrome	Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling	OMIM:251260
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi...	ORPHA:217085
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of...	ORPHA:84064
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormality of retinal pigmentation, Abnormal foveal morphology, Papi...	ORPHA:217093
Neurooculorenal Syndrome	Highly arched eyebrow, Conjugated hyperbilirubinemia	OMIM:620305
Hardikar Syndrome	Pigmentary retinopathy, Hyperbilirubinemia	OMIM:301068
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic disc pallor, Pigmentary retinopathy, Optic atrophy, Cone/cone-rod dystrophy	ORPHA:404454
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Hyperpigmentation of the skin, Retinal degeneration	OMIM:234200
Williams Syndrome	Cataract, Megalocornea, Abnormal fingernail morphology, Aplasia/Hypoplasia of the iris, Hypoplast...	ORPHA:904
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Down Syndrome	Brushfield spots	OMIM:190685
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy	OMIM:277400
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat...	ORPHA:91500
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Proteus Syndrome	Retinal nonattachment, Irregular hyperpigmentation, Central heterochromia, Chorioretinal coloboma...	ORPHA:744
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia	OMIM:620376
Cancer-Associated Retinopathy	Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app...	ORPHA:71505
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Thick eyebrow	OMIM:300896
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Johanson-Blizzard Syndrome	Fair hair, Frontal upsweep of hair, Hypocalcemia, Increased VLDL cholesterol concentration, Hypop...	OMIM:243800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen...	ORPHA:447
Williams-Beuren Syndrome	Blue irides, Medial flaring of the eyebrow, Small nail, Premature graying of hair	OMIM:194050
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Sparse hair, Sparse scalp hair	OMIM:606721
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Hi...	ORPHA:3455
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
1P36 Deletion Syndrome	Cataract, Horizontal eyebrow, Ocular albinism, Abnormal eyebrow morphology, Generalized hirsutism	ORPHA:1606
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ...	ORPHA:818

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dct

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dct.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Dynactin 6 deficiency enhances aging-associated dystrophic neurite formation in mouse brains.	Neurobiology of aging (July 2021)	Dctn6^em1(IMPC)J	34371284
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dctn1^{tm1a(EUCOMM)Wtsi} Dctn4^{em1(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Dctn4^{em1(IMPC)Wtsi}	PMC7338221
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.	Scientific reports (August 2019)	Dct^{tm1b(KOMP)Mbp}	PMC6672016
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dctn1^{tm1a(EUCOMM)Wtsi} Dctn4^em2Wtsi Dctn5^{tm2a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dctn1^{tm1a(EUCOMM)Wtsi} Dctn5^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dctn1^{tm1a(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Dct^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dct^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Dct^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Dct^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dct^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dct^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dct MGI:102563

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

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X-ray

Human diseases caused by Dct mutations

Histopathology

IMPC related publications

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