Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Synonyms:
Hermansky-Pudlak syndrome 3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Hps3 mutations

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

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

The table below shows human diseases associated to Hps3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hair, Abnormal number of den... OMIM:614072

The table below shows human diseases predicted to be associated to Hps3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, P... OMIM:619271
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Hermansky-Pudlak Syndrome 6
Ocular albinism, Epistaxis, Albinism, Macular hypoplasia, Abnormal platelet granules, Prolonged b... OMIM:614075
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P... OMIM:187800
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Hermansky-Pudlak Syndrome 7
Ocular albinism, Epistaxis, Albinism, Abnormal bleeding, Impaired platelet aggregation, Bruising ... OMIM:614076
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo... ORPHA:231393
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Ocular albinism, Hypoplasia of t... OMIM:619172
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist... OMIM:173470
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts OMIM:618462
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Thrombocytopenia, Epistaxis, Impaired ristocetin-induced platelet... OMIM:231200
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Abnormal bleeding, Hypopigmentation of hair, Abnormal number of den... OMIM:614072
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Bruising susceptibility, Epistaxis, Prolonged bleeding time OMIM:614158
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... OMIM:609821
Hermansky-Pudlak Syndrome 5
Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Prolonged bleeding ti... OMIM:614074
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... OMIM:600208
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Tietz Albinism-Deafness Syndrome
Blue irides, White eyebrow, Generalized hypopigmentation, White eyelashes OMIM:103500
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... ORPHA:849
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease, Type 3
Menorrhagia, Thrombocytopenia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal ble... OMIM:277480
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleedi... OMIM:155100
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm... OMIM:619165
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Prolonged bleeding time, Abnor... OMIM:601399
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Menorrhagia, Alopecia, Impaired platelet aggregation OMIM:617443
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... OMIM:614009
Hermansky-Pudlak Syndrome 8
Menorrhagia, Optic disc pallor, Gingival bleeding, Ocular albinism, Hypoplasia of the fovea, Epis... OMIM:614077
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thromboc... OMIM:314050
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Slc35A1-Cdg
Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged... ORPHA:238459
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Choroideremia ORPHA:99000
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Fechtner syndrome
Menorrhagia, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Gi... OMIM:153640
Familial Drusen
Hypoautofluorescent macular lesion, Abnormality of retinal pigmentation, Macular atrophy, Granula... ORPHA:75376
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentation of the retina, Retinopathy, ... OMIM:180210
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... OMIM:605735
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... OMIM:193400
Oliver-Mcfarlane Syndrome
Retinal degeneration, Alopecia, Long eyelashes, Central heterochromia, Pigmentary retinopathy, De... OMIM:275400
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Albinism-Deafness Syndrome
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... ORPHA:998
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:277580
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Myh9-Related Disease
Menorrhagia, Increased mean platelet volume, Neutrophil inclusion bodies, Spontaneous, recurrent ... ORPHA:182050
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Photoreceptor layer loss on macu... OMIM:609913
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Waardenburg Syndrome, Type 2A
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... OMIM:193510
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Reduced delayed hypersensitivity, Hepatosplenomeg... OMIM:607624
Progressive Hemifacial Atrophy
Heterochromia iridis, Irregular hyperpigmentation ORPHA:1214
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... OMIM:187900
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Hermansky-Pudlak Syndrome 2
Neutropenia, Ocular albinism, Aberrant melanosome maturation, Reduced natural killer cell activit... OMIM:608233
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Petechiae, Reduced natural killer cell act... OMIM:619374
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Hermansky-Pudlak Syndrome 1
Abnormal hair morphology, Gingival bleeding, Ocular albinism, Freckling, Epistaxis, Albinism, Mel... OMIM:203300
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Pigmentary retinopathy OMIM:266130
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Reticulocytosis, Chroni... OMIM:210250
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Spontaneous, ... ORPHA:274
Hermansky-Pudlak Syndrome 4
Menorrhagia, Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism, Abnormal platelet gra... OMIM:614073
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Abnormality of retinal pigmentation, Ungual fibroma, Abnormal toenail morphology, Spar... ORPHA:1433
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Hermansky-Pudlak Syndrome 9
Leukopenia, Ocular albinism, Hypopigmentation of the fundus, Hypopigmentation of the skin, Thromb... OMIM:614171
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Absent eyebrow, Retinopathy, Sparse scalp... ORPHA:1897
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormality of the optic nerve, Intracranial hemorrhage, Acute leukemia, Bone marro... ORPHA:3226
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Prolonge... ORPHA:3318
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Multiple cafe-au-lait spots ORPHA:638
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
X-Linked Recessive Ocular Albinism
Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Giant ... ORPHA:54
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Congenital Toxoplasmosis
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia ORPHA:858
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Griscelli Syndrome Type 1
White hair, Partial albinism, Iris hypopigmentation, Premature graying of hair ORPHA:79476
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Facial Spasm
Anisocoria OMIM:134300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia ... ORPHA:2885
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormal calcium-p... ORPHA:2196
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Decreased circulating antibody level, Impaired collagen-induced ... OMIM:604928
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair ORPHA:1264
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Thromb... ORPHA:290
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Leber Congenital Amaurosis 2
Fundus atrophy, Pigmentary retinopathy OMIM:204100
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Phenylketonuria
Blue irides, Generalized hypopigmentation, Cataract, Fair hair OMIM:261600
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Aplasia Cutis-Myopia Syndrome
Abnormal bleeding, Abnormality of retinal pigmentation ORPHA:1117
Leigh Syndrome With Leukodystrophy
Hypertrichosis, Optic atrophy, Anemia, Pigmentary retinopathy ORPHA:255241
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, ... ORPHA:1390
Aniridia 2
Aniridia, Cataract OMIM:617141
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Generalized hyperpigmentation, Aplasia/Hypoplasia ... ORPHA:33445
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage, Subcutaneous hemorrhage, T... OMIM:603585
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hyperin... ORPHA:791
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Splenomegaly, Hepatosplenomegaly, Iris hypopigmentation,... ORPHA:167
Zika Virus Disease
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... ORPHA:448237
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Waardenburg Syndrome, Type 3
Blue irides, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, White forelock, ... OMIM:148820
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris coloboma, Iris hypopig... ORPHA:3214
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Albinism-Deafness Syndrome
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism OMIM:300700
Leber Congenital Amaurosis 1
Fundus atrophy, Pigmentary retinopathy OMIM:204000
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Ramon Syndrome
Abnormality of retinal pigmentation, Generalized hirsutism ORPHA:3019
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Joubert Syndrome 28
Highly arched eyebrow, Optic disc pallor, Pigmentary retinopathy OMIM:617121
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Klippel-Trénaunay Syndrome
Microcytic anemia, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time ORPHA:90308
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood v... OMIM:604116
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, Increased ci... OMIM:600903
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Ocular albinism, Hypoplasia of the iris, White eyelashes... OMIM:611584
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:612572
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... OMIM:613266
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Astigmatism, Hypopi... OMIM:203100
Wolfram Syndrome 1
Optic atrophy, Megaloblastic anemia, Sideroblastic anemia, Pigmentary retinopathy, Thrombocytopenia OMIM:222300
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Intracranial hemorrhage, Chorioretinal coloboma, Generalized... ORPHA:2481
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Retinitis Pigmentosa 83
Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e... OMIM:618173
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Petechiae, Hypoplasia of the thymus, Chronic leukemia, R... ORPHA:906
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, Hypoplastic nipples, Decre... ORPHA:79329
Macs Syndrome
Alopecia, Prolonged bleeding time, Sparse and thin eyebrow, Sparse hair, Bruising susceptibility OMIM:613075
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Griscelli Syndrome Type 2
Partial albinism, Neutropenia, Petechiae, Splenomegaly, Iris hypopigmentation, Pancytopenia, Hypo... ORPHA:79477
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Joi... ORPHA:324636
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613810
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Petechiae, Melena, Decreased circulat... OMIM:301000
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia ORPHA:3085
Chediak-Higashi Syndrome
Neutropenia, Silver-gray hair, Ocular albinism, Leukopenia, Spontaneous, recurrent epistaxis, Abn... OMIM:214500
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Iritis, Multiple cafe-au-lait spots ORPHA:158000
Mental Retardation, Buenos Aires Type
Blue irides, Fair hair OMIM:249630
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Mixed Connective Tissue Disease
Leukopenia, Alopecia, Splenomegaly, Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura... ORPHA:809
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1173
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Decreased circulating IgG level, Hypopigmenta... ORPHA:1493
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Desmoid Tumor
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation ORPHA:873
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Fair hair, Red hair OMIM:614613
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Griscelli Syndrome
Hypopigmented skin patches, Silver-gray hair, Leukopenia, White hair, Decreased circulating antib... ORPHA:381
Retinitis Pigmentosa 10
Optic disc pallor, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Alopecia ORPHA:1067
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Frontofacionasal Dysplasia
Limbal dermoid, Brushfield spots, Iris coloboma, Cataract, Microcornea ORPHA:1791
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... ORPHA:52427
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation ORPHA:85194
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... ORPHA:3437
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:609033
Anisocoria
Anisocoria OMIM:106240
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, White hair, Cataract, Iris hypopigmentation, Generalized hypopigmentation ORPHA:2720
Leigh Syndrome
Optic atrophy, Hypertrichosis, Pigmentary retinopathy OMIM:256000
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina... ORPHA:5
Late-Onset Retinal Degeneration
Iris transillumination defect, Choroidal neovascularization, Abnormal anterior eye segment morpho... ORPHA:67042
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Prolidase Deficiency
Abnormality of retinal pigmentation, Hirsutism, Low anterior hairline, Splenomegaly, White forelo... ORPHA:742
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Epistaxis, Abnormal bleeding, Retinal peau d'orange, Angioid streaks ... OMIM:610842
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Coarse hair, Splenomegaly, Thick eyebrow ORPHA:585
Cohen Syndrome
Optic atrophy, Chorioretinal dystrophy, Neutropenia, Leukopenia, Bull's eye maculopathy, Bone spi... OMIM:216550
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Cafe-au-lait spot ORPHA:3041
Joubert Syndrome 3
Highly arched eyebrow, Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal eyelash morphology ORPHA:2518
Refsum Disease
Abnormality of retinal pigmentation, Nail dysplasia, Retinopathy, Splenomegaly ORPHA:773
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy OMIM:268100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Nail dystrophy, Alopecia, Vitiligo, Decreased circulating parathyroid hormone level, Pi... OMIM:240300
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Retinal degeneration, Pigmentary retinopathy ORPHA:79264
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98795
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function, Coarse hair, Melanocytic nevus, Abnormal b... ORPHA:648
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, Hypoplastic iris stroma, White eyelashes, Heterochromia iridis, Wh... OMIM:193500
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Ocular albinism, Epistaxis, Generalized hypopigmentation, Bruising susceptibility ORPHA:352723
Mulibrey Nanism
Iris coloboma, Pigmentary retinopathy OMIM:253250
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Nail dystrophy, Bone marrow hypocellularity, Generalized hypopigme... ORPHA:3322
Deafness-Hypogonadism Syndrome
Heterochromia iridis ORPHA:90646
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Rod-cone dystrophy, Hypothalamic gonadotropin-releasing horm... ORPHA:2235
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Hypertrichosis, Leukopenia, Decreased circula... ORPHA:505248
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Neutropenia, Low ant... ORPHA:193
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract, Pigmentary retinopathy OMIM:614866
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Hypochromic microcytic anemia, Refract... ORPHA:48818
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Brushfield spots ORPHA:1784
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta... ORPHA:2715
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino... OMIM:560000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract, Pigmentary retinopathy OMIM:214110
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pigmentary r... ORPHA:71212
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Zellweger Syndrome
Posterior embryotoxon, Brushfield spots, Corneal opacity, Cataract, Abnormal chorioretinal morpho... ORPHA:912
Kearns-Sayre Syndrome
Sideroblastic anemia, Pigmentary retinopathy OMIM:530000
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia, Multiple cafe-au-lait spots, Hypopigmentation ... ORPHA:100
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypopigmentation of the ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypopigmentation of the ... ORPHA:71526
Acquired Purpura Fulminans
Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Thrombocytopenia, Internal ... ORPHA:49566
Noonan Syndrome 13
Blue irides, Multiple lentigines, Cafe-au-lait spot OMIM:619087
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411511
Lowry-Wood Syndrome
Abnormality of nail color, Abnormality of retinal pigmentation ORPHA:1824
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Corneal opacity, Cataract, Iris hypopigmentation, Hypopigmentatio... ORPHA:2719
Congenital Fibrinogen Deficiency
Gingival bleeding, Prolonged prothrombin time, Abnormality of the subungual region, Subcutaneous ... ORPHA:335
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Partial albinism, Abnormality of thrombocytes, Neutropenia, Ocula... ORPHA:79430
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Nail dystrophy, Bone m... ORPHA:2968
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Acanthocytosis, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal erythrocyte m... ORPHA:96180
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Hypertrichosis, Splenomegaly OMIM:309900
Abetalipoproteinemia
Abnormality of retinal pigmentation, Prolonged prothrombin time, Acanthocytosis, Anemia, Hypopigm... ORPHA:14
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Anemia, Pigmentary retinopathy OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Anemia, Pigmentary retinopathy ORPHA:436271
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Generalized hirsutism, Retinal coloboma ORPHA:2510
Noonan Syndrome 9
Prolonged prothrombin time, Curly hair, Sparse eyebrow OMIM:616559
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pigmentary retinopathy OMIM:277400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Red hair OMIM:609734
Angelman Syndrome
Blue irides, Hypopigmentation of the skin, Fair hair OMIM:105830
Proteus-Like Syndrome
Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology, Irregular hyperpigmentation, Cat... ORPHA:2969
Relapsing Fever
Leukocytosis, Leukopenia, Prolonged prothrombin time, Epistaxis, Anemia, Neutrophilia, Abnormal b... ORPHA:91547
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Prolonged prothrombin time, Refractory a... ORPHA:99147
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:88628
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Generalized hirsutism, Pigmentary retinopathy ORPHA:110
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Pigmentary retinopathy ORPHA:79095
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98794
Waardenburg Syndrome
Hypopigmented skin patches, Abnormality of skin pigmentation, Heterochromia iridis, White foreloc... ORPHA:3440
Werner Syndrome
Abnormality of retinal pigmentation, White forelock, Pili torti, Sparse scalp hair, Premature gra... ORPHA:902
8Q21.11 Microdeletion Syndrome
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:284160
Retinoblastoma
Retinal calcification, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrh... ORPHA:790
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Abnormal hair... ORPHA:2526
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Neutropenia, Retinal degeneration, Subdural hemorrhage, Megaloblastic anemia, Abno... ORPHA:79282
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Macular atrophy, Retinal thinning, Ectopia pupillae, Cone/co... ORPHA:85167
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinal degeneration, Acanthocytosis, Bull's eye maculopathy, Retinal flecks, Rod-... ORPHA:157850
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M... ORPHA:1969
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, Intracranial hemorrhage, Subcutaneous hemorrh... ORPHA:394
Alstrom Syndrome
Alopecia, Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Cone/con... OMIM:203800
Noonan Syndrome 4
Blue irides OMIM:610733
Hepatoportal Sclerosis
Leukopenia, Prolonged prothrombin time, Anemia, Splenomegaly, Gastrointestinal hemorrhage, Hypers... ORPHA:64743
Angelman Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Astigmatism, Keratoconus, Fair hair ORPHA:72
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Peroxisome Biogenesis Disorder 1A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract, Pigmentary retinopathy OMIM:214100
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heterochromia iridis, Abnormal cho... ORPHA:3205
Kasabach-Merritt Syndrome
Neutropenia, Hypertrichosis, Petechiae, Microangiopathic hemolytic anemia, Prolonged prothrombin ... ORPHA:2330
Down Syndrome
Brushfield spots OMIM:190685
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign ORPHA:2614
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hyperconvex fingernails, Hypoplastic fingernail ORPHA:192
Duane Retraction Syndrome
Hypopigmented skin patches, Patchy hypopigmentation of hair, Chorioretinal coloboma, Aniridia, Hy... ORPHA:233
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Normochromic anemia, ... ORPHA:91500
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy OMIM:610651
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Hyperaldosteronism OMIM:241200
Vici Syndrome
Ocular albinism, Cutaneous anergy, Decreased circulating IgG level, Hypopigmentation of the fundu... OMIM:242840
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Neutropenia, Decreased circulating antibody level, Anemia, S... ORPHA:175
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Thick hair, Pigmentary retinopathy ORPHA:502423
Myopathy, Mitochondrial, And Ataxia
Thick hair, Pigmentary retinopathy OMIM:617675
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion ORPHA:1764
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Abnormal platelet function, Elevated calcitonin, ... ORPHA:79443
Chromosome 6Pter-P24 Deletion Syndrome
Frontal upsweep of hair, Pigmentary retinopathy OMIM:612582
Cockayne Syndrome Type 1
Optic atrophy, Anemia, Hypermelanotic macule, Pigmentary retinopathy ORPHA:90321
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Hypopigmentation o... OMIM:176270
Neurofibromatosis Type 1
Hypopigmented skin patches, Abnormality of retinal pigmentation, Chorioretinal coloboma, Generali... ORPHA:636
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, White eyebrow OMIM:609136
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormality of skin p... ORPHA:50
Koolen-De Vries Syndrome
Cataract, Iris hypopigmentation, Fair hair OMIM:610443
Melas
Optic atrophy, Hypertrichosis, Anemia, Vitiligo, Pigmentary retinopathy ORPHA:550
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Pearson Syndrome
Neutropenia, Hyperpigmentation of the skin, Bone marrow hypocellularity, Anemia, Splenomegaly, Re... ORPHA:699
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Melanocytic nevus OMIM:101800
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of the skin, Iris hypopigmentation... ORPHA:177907
Nail-Patella Syndrome
Lester's sign, Microphakia, Antecubital pterygium, Cataract, Microcornea, Keratoconus OMIM:161200
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Retinal degeneration, Pigmentary retinopathy ORPHA:99
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Brittle hair, Trichorrh... ORPHA:84064
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Hirsutism, Coarse hair, Rod-cone dystrophy, Splenomegaly, Th... ORPHA:581
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98754
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Chorioretinal lacunae OMIM:618733
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177901
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Optic disc pallor, Prolonged prothrombin time, Splenomegaly, Pigmentary retinopath... ORPHA:404454
Cockayne Syndrome
Fine hair, Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degener... ORPHA:191
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Baraitser-Winter Cerebrofrontofacial Syndrome
Heterochromia iridis, Microcornea, Iris coloboma ORPHA:2995
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Acanthocytosis, Hyperpigmentation of the skin, Pigmentary re... OMIM:234200
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration, Abnormal hair morphology, Abnormality ... ORPHA:79474
Prader-Willi-Like Syndrome
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:398073
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Prolonged prothrombin time, Reduced natural killer cell activity, Anemia, Splenomegal... OMIM:603553
Cockayne Syndrome A
Optic atrophy, Dry hair, Abnormality of skin pigmentation, Retinal pigment epithelial mottling, S... OMIM:216400
Trisomy 18
Abnormality of retinal pigmentation, Abnormal toenail morphology, Iris coloboma ORPHA:3380
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Prolonged prothrombin time, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:267700
Hellp Syndrome
Cerebral hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombin time, Decreased mea... ORPHA:244242
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation, Retinal dysplasia, Abnormality o... ORPHA:2556
Cockayne Syndrome B
Optic atrophy, Abnormal hair morphology, Dry hair, Hypoplasia of the iris, Abnormality of skin pi... OMIM:133540
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of the skin, Splenomegaly, Retinopathy, Pig...