Gene: Bace2 MGI:1860440

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Gene Summary

Name:
beta-site APP-cleaving enzyme 2
Synonyms:
1110059C24Rik,  CEAP1,  CDA13,  ASP21,  ALP56,  BAE2,  ARP1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Bace2tm1b(EUCOMM)Wtsi HOM   Early adult 1.49×10-05
increased cornea thickness Bace2tm1b(EUCOMM)Wtsi HOM Early adult 3.02×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Bace2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Bace2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Adamantinoma
Hypercalcemia ORPHA:55881
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Dilution, Pigmentary
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... OMIM:126070
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the fundus, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus, Blue irides OMIM:606574
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Iris transillu... OMIM:619165
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Dermoids Of Cornea
Corneal opacity OMIM:304730
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Woolly Hair
Hypopigmentation of hair, Abnormal retinal morphology, Slow-growing hair, Sparse lateral eyebrow,... ORPHA:170
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Abn... ORPHA:1433
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Hypopigmentation of ... OMIM:203200
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White fo... OMIM:601706
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Oliver-Mcfarlane Syndrome
Central heterochromia, Sparse hair, Pigmentary retinopathy, Long eyelashes, Retinal degeneration,... OMIM:275400
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Abnormality of the optic nerve, Generalized ... ORPHA:33445
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Abnormal retinal morphology, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Retinitis Pigmentosa 11
Macular atrophy, Perifoveal ring of hyperautofluorescence, Macular edema, Bone spicule pigmentati... OMIM:600138
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Eem Syndrome
Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Sparse body hair, Retinop... ORPHA:1897
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal macular morphology, White... ORPHA:897
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Retinitis Pigmentosa 9
Macular atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular edema OMIM:180104
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Abnormal foveal morpholo... ORPHA:827
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus OMIM:229200
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial atrophy, Retinal pigment epithelia... OMIM:304020
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Oculocerebrodental Syndrome
Hypocalcemia, Developmental cataract, Hypercalcemia ORPHA:557003
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Hyperthreoninemia OMIM:204000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Uncombable hair, Sparse hair ORPHA:1264
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... ORPHA:352731
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, White hair, Partial albinism, Retinopathy ORPHA:79476
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Hypophosphatasia
Hypercalcemia ORPHA:436
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... ORPHA:79431
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Oculoskeletodental Syndrome
Hypocalcemia, Developmental cataract, Hypercalcemia OMIM:618440
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Cataract, Conjunctivitis, Hyperphosphatemia, Hypocalcemic seiz... ORPHA:36913
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Joubert Syndrome 28
Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Synophrys, Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular m... ORPHA:1390
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Neurocutaneous Melanocytosis
Generalized hirsutism, Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic n... ORPHA:2481
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Ramon Syndrome
Generalized hirsutism, Abnormality of retinal pigmentation ORPHA:3019
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Pheochromocytoma
Developmental cataract, Hypercalcemia OMIM:171300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Hypopl... OMIM:203100
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Cataract, Conjunctivitis, Hyperphosphatemia, Hypocalcemic seiz... ORPHA:94089
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Fingernail dysplasia ORPHA:1259
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Narp Syndrome
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Optic dis... ORPHA:644
Brittle Cornea Syndrome
Decreased corneal thickness, Corneal erosion, Keratoglobus, Corneal scarring, Corneal dystrophy ORPHA:90354
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Leigh Syndrome With Leukodystrophy
Optic atrophy, Hypertrichosis, Pigmentary retinopathy ORPHA:255241
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Cataract, Hypokalemia, Hypocalcemia OMIM:175500
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia ORPHA:289522
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Absent eyebrow, Sparse axillary hair, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy OMIM:268100
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Macular hyper... OMIM:120970
Acute Zonal Occult Outer Retinopathy
Marcus Gunn pupil, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment e... ORPHA:284454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Astigmatism, Hypercalcemia ORPHA:369837
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613266
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Sanjad-Sakati Syndrome
Hypocalcemia, Astigmatism, Corneal opacity, Hyperphosphatemia ORPHA:2323
Mastocytosis
Hypercalcemia ORPHA:98292
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Leigh Syndrome
Optic atrophy, Hypertrichosis, Pigmentary retinopathy OMIM:256000
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Blotching pigmentation of the... OMIM:560000
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, Re... ORPHA:5
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Timothy Syndrome
Hypocalcemia OMIM:601005
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Blue irides, Fair hair OMIM:614613
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Bone spicule pigment... OMIM:609033
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:85138
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal eyelash morphology ORPHA:2518
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hypopigmentation, Multiple ca... ORPHA:1969
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Prolidase Deficiency
Low anterior hairline, Abnormality of retinal pigmentation, Hirsutism, White forelock, Generalize... ORPHA:742
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Developmental cataract, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
X-Linked Agammaglobulinemia
Conjunctivitis, Hypocalcemia ORPHA:47
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Gracile Bone Dysplasia
Aniridia, Hypocalcemia OMIM:602361
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Thick eyebrow, Coarse hair ORPHA:585
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Alopecia universalis,... OMIM:240300
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Cataract, Conjunctivitis, Calcinosis, Hyperphosphatemia, Hypoc... ORPHA:79444
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Abnormality of nail color ORPHA:1824
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Ppoma
Hypercalcemia ORPHA:97278
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:612462
Refsum Disease
Nail dysplasia, Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy OMIM:610651
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Retinal pigment epithelial mottling... ORPHA:448237
Grfoma
Hypercalcemia ORPHA:97261
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Optic nerve hypoplasia OMIM:618156
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Cataract, Conjunctivitis, Calcinosis, Band keratopathy, Hyperp... ORPHA:79443
Cohen Syndrome
Abnormality of skin pigmentation, Low anterior hairline, Abnormality of retinal pigmentation, Thi... ORPHA:193
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Williams Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Corneal opacity, Abnormal circulating lipi... ORPHA:904
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:103580
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Cohen Syndrome
Bull's eye maculopathy, Thick eyebrow, Optic atrophy, Bone spicule pigmentation of the retina, Ch... OMIM:216550
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Silver-gray ha... OMIM:214500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Bardet-Biedl Syndrome
Generalized hirsutism, Medial flaring of the eyebrow, Pigmentary retinopathy ORPHA:110
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Lacrimoauriculodentodigital Syndrome
Decreased corneal sensation, Limbal stem cell deficiency, Increased corneal thickness, Keratoconj... ORPHA:2363
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Micro Syndrome
Retinal coloboma, Abnormality of retinal pigmentation, Optic atrophy, Generalized hirsutism ORPHA:2510
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:88628
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Abnormal hair whorl, Sparse scalp... ORPHA:902
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Breast hypoplasia ORPHA:2235
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Long eyelash... ORPHA:79430
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Warburg-Cinotti Syndrome
Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Corneal neovascularization OMIM:618175
Hardikar Syndrome
Chorioretinal degeneration, Mottled pigmentation, Pigmentary retinopathy OMIM:612726
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Abnormality of retinal pigmentation, Papilledema OMIM:309900
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Abnormal hair morphology, Abnormal ... ORPHA:2526
Costello Syndrome
Keratoconus ORPHA:3071
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Pigmentary retinopathy OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Pigmentary retinopathy OMIM:214110
Velocardiofacial Syndrome
Hypocalcemia, Posterior embryotoxon OMIM:192430
Sarcoidosis
Cataract, Keratoconjunctivitis sicca, Hypercalcemia, Abnormal conjunctiva morphology ORPHA:797
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration ORPHA:48818
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Hypopigmentation of the fundus, Hypopigmenta... OMIM:242840
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, Thick hair ORPHA:502423
Gapo Syndrome
Keratoconus ORPHA:2067
Aicardi Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Op... ORPHA:50
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypoplastic fingernail, Hyperconvex fingernails ORPHA:192
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Corneal stromal edema, Cataract, Hypokalemia, Hyperalaninemia, Hy... ORPHA:699
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Thick hair OMIM:617675
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... ORPHA:167
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Alstrom Syndrome
Cone/cone-rod dystrophy, Alopecia, Pigmentary retinopathy OMIM:203800
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Neurofibromatosis Type 1
Chorioretinal coloboma, Abnormality of retinal pigmentation, Freckling, Heterochromia iridis, Abn... ORPHA:636
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Williams-Beuren Syndrome
Hypercalcemia, Blue irides OMIM:194050
Sotos Syndrome
Cataract, Astigmatism, Hypercalcemia ORPHA:821
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Pantothenate Kinase-Associated Neurodegeneration
Retinal flecks, Pigmentary retinopathy, Retinal degeneration, Optic atrophy, Bull's eye maculopat... ORPHA:157850
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Abnormality of the nail, C... ORPHA:2556
Classic Homocystinuria
Sparse scalp hair, Abnormality of retinal pigmentation, Optic atrophy, Retinal detachment ORPHA:394
Chromosome 6Pter-P24 Deletion Syndrome
Frontal upsweep of hair, Pigmentary retinopathy OMIM:612582
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thick hair, Long eyelashes, Hypertrichosis, Optic atrophy ORPHA:505248
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Ramon Syndrome
Hypertrichosis, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Pigmentary retinopathy, Retinal degeneration ORPHA:99
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Pigmentary retinopathy ORPHA:90321
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Blue irides, Hyperphosphatemia ORPHA:280651
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Syndromic Diarrhea
Hypopigmentation of hair, Uncombable hair, Brittle hair, Cafe-au-lait spot, Woolly hair, Trichorr... ORPHA:84064
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Developmental cataract, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Cockayne Syndrome A
Abnormality of skin pigmentation, Dry hair, Pigmentary retinopathy, Sparse hair, Retinal pigment ... OMIM:216400
Melas
Vitiligo, Optic atrophy, Hypertrichosis, Pigmentary retinopathy ORPHA:550
Gapo Syndrome
Keratoconus OMIM:230740
Arterial Tortuosity Syndrome