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Gene: Hps3 MGI:2153839

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Hps3 (1 diseases)
Human diseases predicted to be associated with Hps3 (618 diseases)

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		Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o...	OMIM:614072

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

Disease	Matching phenotypes	Source
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi...	OMIM:614076
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o...	OMIM:614072
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Hypop...	OMIM:614171
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo...	ORPHA:231393
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i...	OMIM:155100
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Redu...	OMIM:619172
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Albi...	OMIM:614074
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal platelet granules, Albinism, Impa...	OMIM:614075
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:608404
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggreg...	OMIM:617443
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm...	OMIM:619165
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility...	OMIM:614009
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su...	OMIM:601399
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto...	OMIM:153670
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip...	OMIM:614077
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Adult-Onset Foveomacular Vitelliform Dystrophy	Choroideremia, Iris hypopigmentation	ORPHA:99000
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Liberfarb Syndrome	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ...	OMIM:618889
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation	ORPHA:370097
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Cryptorchidism, Pigmentary retinopathy, Long eyel...	OMIM:275400
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H...	OMIM:607624
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ...	ORPHA:182050
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p...	OMIM:193510
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Albinism...	OMIM:608233
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec...	OMIM:203300
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc...	ORPHA:274
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Glutathione Synthetase Deficiency	Pigmentary retinopathy, Hemolytic anemia, Neutropenia	OMIM:266130
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Neurofibromatosis-Noonan Syndrome	Multiple cafe-au-lait spots, Prolonged bleeding time, Cryptorchidism	ORPHA:638
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, ...	OMIM:614073
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I...	ORPHA:3226
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Eem Syndrome	Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Macular dystrophy, Retino...	ORPHA:1897
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Cryptorchidism, Pigmentary retinopathy, Long eyelashes, Sparse hair, Retinal degeneration	ORPHA:3363
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl...	ORPHA:54
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos...	OMIM:210250
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Facial Spasm	Anisocoria	OMIM:134300
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Thrombocytopenia, Anemia	ORPHA:858
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,...	ORPHA:411527
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Piebald Trait-Neurologic Defects Syndrome	Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p...	ORPHA:2885
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Aplasia Cutis-Myopia Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Zika Virus Disease	Subcutaneous hemorrhage, Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottl...	ORPHA:448237
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Abnormal circulating calcium-phosphate regulating hormone co...	ORPHA:2196
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Wolfram Syndrome 2	Abnormal bleeding, Optic neuropathy, Optic atrophy, Decreased circulating antibody level, Impaire...	OMIM:604928
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Phenylketonuria	Fair hair, Generalized hypopigmentation, Cataract, Blue irides	OMIM:261600
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thromb...	ORPHA:290
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Congenital Disorder Of Glycosylation, Type Iif	Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ...	OMIM:603585
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Synophrys, Heterochrom...	ORPHA:1390
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmentation, Retinop...	ORPHA:816
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Opti...	ORPHA:791
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Waardenburg Syndrome, Type 3	Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel...	OMIM:148820
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Heimler Syndrome 1	Beau's lines, Retinal pigment epithelial mottling, Leukonychia, Macular dystrophy	OMIM:234580
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Fingernail dysplasia	ORPHA:1259
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia	ORPHA:90308
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow	OMIM:617121
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinitis Pigmentosa 46	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:612572
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Ramon Syndrome	Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hyperinsulinemia, Decreased testicular size, Cryptorchidism	ORPHA:3085
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Mgat2-Cdg	Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat...	ORPHA:79329
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Testicular atr...	OMIM:222300
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th...	ORPHA:324636
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Cln3 Disease	Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating androgen con...	ORPHA:228346
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Prolonged bleeding time, Abs...	OMIM:301000
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ...	OMIM:214500
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Obesity And Hypopigmentation	Red hair	OMIM:620195
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cryptorchidism	ORPHA:370968
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic...	OMIM:600462
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Riboflavin Transporter Deficiency	Iris hypopigmentation	ORPHA:97229
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Alopecia, Splenomegaly, L...	ORPHA:809
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma	ORPHA:1791
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple	ORPHA:1173
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Persistent pupillary membrane	ORPHA:1067
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect	OMIM:617306
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Vici Syndrome	Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Optic atrophy, Decreased c...	ORPHA:1493
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Epistaxis, Angioid streaks of the fundus, Prolonged prothrombin time, Retinal ...	OMIM:610842
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Edinburgh Malformation Syndrome	Brushfield spots	ORPHA:1895
Macs Syndrome	Prolonged bleeding time, Alopecia, Sparse eyebrow, Cryptorchidism, Sparse hair, Bruising suscepti...	OMIM:613075
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph...	OMIM:609033
Tonne-Kalscheuer Syndrome	Blue irides	OMIM:300978
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Griscelli Syndrome	Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Iris hypopig...	ORPHA:381
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Splenomegaly, Low anterior h...	ORPHA:742
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Hypertrichosis	OMIM:256000
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia...	ORPHA:3322
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Cafe-au-lait spot, Blue irides	ORPHA:3041
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Splenomegaly, Optic atrophy, Coarse hair, Thick eyebrow	ORPHA:585
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cryptorchidism	OMIM:613156
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Noonan Syndrome	Abnormal bleeding, Abnormal hair quantity, Abnormality of the spleen, Cryptorchidism, Melanocytic...	ORPHA:648
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f...	OMIM:193500
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration	ORPHA:79264
Refsum Disease	Splenomegaly, Abnormality of retinal pigmentation, Retinopathy, Nail dysplasia	ORPHA:773
Attenuated Chédiak-Higashi Syndrome	Epistaxis, Ocular albinism, Gingival bleeding, Generalized hypopigmentation, Bruising susceptibility	ORPHA:352723
Ataxia-Telangiectasia	Hypopigmentation of hair, Decreased circulating antibody level, Premature graying of hair, Multip...	ORPHA:100
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Highly arched eyebrow	OMIM:608629
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal...	OMIM:300578
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma	OMIM:253250
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches	ORPHA:1784
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot...	ORPHA:912
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Decreased circulating parathyroid hormone level, Asplenia, Pigmentary retinopathy, Peri...	OMIM:240300
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Abnormality of the subungual region, Internal hemor...	ORPHA:335
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb...	ORPHA:49566
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma	OMIM:214110
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Noonan Syndrome 13	Cafe-au-lait spot, Blue irides, Multiple lentigines	OMIM:619087
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig...	ORPHA:2719
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Prolonged prothrombin time, Fasting hyperinsulinemia, Hyperinsulinemic hy...	ORPHA:71212
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Abnormal hair whorl, Premature graying of...	ORPHA:902
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Thrombocytopenia, Optic atrophy, Hepatosplenomeg...	ORPHA:505248
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin	ORPHA:71526
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epist...	ORPHA:79430
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Pigmentary retinopathy, Generalized hirsutism, Cryptorchidism	ORPHA:110
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Prolonged prothrombin time	OMIM:616559
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Hypochromic microcytic anemia, Macular de...	ORPHA:48818
Micro Syndrome	Abnormality of retinal pigmentation, Cryptorchidism, Optic atrophy, Retinal coloboma, Generalized...	ORPHA:2510
Kearns-Sayre Syndrome	Pigmentary retinopathy, Sideroblastic anemia	OMIM:530000
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentation, Heterochromia i...	ORPHA:2969
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Reduced circulating prolactin concentrati...	ORPHA:2235
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color	ORPHA:1824
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Relapsing Fever	Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged...	ORPHA:91547
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Waardenburg Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature...	ORPHA:3440
Abetalipoproteinemia	Abnormal bleeding, Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Rod-cone...	ORPHA:14
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr...	ORPHA:99147
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Polycythemia, Leukocytosis, Nail dystrophy, Abnormalit...	ORPHA:2968
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Maternal Uniparental Disomy Of Chromosome 4	Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Rod-cone ...	ORPHA:96180
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Papilledema, Splenomegaly, Hepatosplenomegaly, Hypertrichosis	OMIM:309900
Retinitis Pigmentosa 74	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy, Anemia	ORPHA:436271
Angelman Syndrome	Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:72
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Chorior...	ORPHA:2526
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Noonan Syndrome 4	Blue irides	OMIM:610733
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis...	ORPHA:3205
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Hypertrichosis, Anemia, Leukopenia, Prolonged prothrombin time...	ORPHA:2330
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Anemia	OMIM:220110
Nail-Patella Syndrome	Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign	ORPHA:2614
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le...	ORPHA:64743
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Progressi...	OMIM:251260
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro...	ORPHA:157850
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Megaloblastic anemia, Subdural hemorrhage, Optic atrophy, Pigmentary retinopath...	ORPHA:79282
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma	OMIM:214100
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ...	ORPHA:233
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Classic Homocystinuria	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Sparse scalp hair, Retinal deta...	ORPHA:394
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair	OMIM:612582
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Pigmentary retinopathy, Optic atrophy, Optic disc pallor	OMIM:617282
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Alopecia, Hyperinsulinemia	OMIM:203800
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Abnormality of retinal pigmentation, Papilledema, Choroidal neovascularization...	ORPHA:91500
Koolen-De Vries Syndrome	Fair hair, Cataract, Iris hypopigmentation	OMIM:610443
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Impaired platelet aggregation	OMIM:241200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl...	OMIM:613154
Coffin-Lowry Syndrome	Hyperconvex fingernails, Abnormality of retinal pigmentation, Optic atrophy, Hypoplastic fingernail	ORPHA:192
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Optic disc pallor, Thick hair	ORPHA:502423
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Pseudohypoparathyroidism Type 1A	Elevated circulating parathyroid hormone level, Elevated circulating calcitonin concentration, Ab...	ORPHA:79443
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Peroxisome Biogenesis Disorder 5A (Zellweger)	Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma	OMIM:614866
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Thick hair	OMIM:617675
Cockayne Syndrome Type 1	Hypermelanotic macule, Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Anemia	ORPHA:90321
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Sparse eyebrow, Decreased circulating antibody level, Neutro...	ORPHA:175
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Prader-Willi Syndrome	Generalized hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopi...	OMIM:176270
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Acrodysostosis 1 With Or Without Hormone Resistance	Blue irides, Melanocytic nevus	OMIM:101800
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Crypt...	ORPHA:636
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Baraitser-Winter Cerebrofrontofacial Syndrome	Microcornea, Heterochromia iridis, Iris coloboma	ORPHA:2995
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Pigmentary retinopathy, Neutropenia, Lymphopenia, Anemia	OMIM:618460
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Retinal degeneration, Abno...	ORPHA:79474
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Knobloch Syndrome 1	Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L...	OMIM:267750
Aicardi Syndrome	Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Syndromic Diarrhea	Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu...	ORPHA:84064
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Macular atrophy, Albinism, Decreased c...	OMIM:242840
Melas	Optic atrophy, Pigmentary retinopathy, Vitiligo, Anemia, Hypertrichosis	ORPHA:550
Squalene Synthase Deficiency	Bilateral cryptorchidism, Optic nerve hypoplasia, Abnormality of hair pigmentation	OMIM:618156
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly, Ocular albinism, Albinism	OMIM:617050
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu...	OMIM:603553
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, ...	OMIM:212750
Pearson Syndrome	Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Pigmentary retinopathy, Bo...	ORPHA:699
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Splenomegaly, Optic atrophy, Pigmentary retinopathy, ...	ORPHA:404454
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Chorioretinal lacunae	OMIM:618733
Mucopolysaccharidosis Type 3	Thick hair, Retinal degeneration, Splenomegaly, Synophrys, Optic atrophy, Pigmentary retinopathy,...	ORPHA:581
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ...	OMIM:209900
Cockayne Syndrome	Abnormality of retinal pigmentation, Dry hair, Retinal atrophy, Retinal dystrophy, Optic disc pal...	ORPHA:191
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time	ORPHA:99901
Trisomy 18	Abnormality of retinal pigmentation, Abnormal toenail morphology, Iris coloboma, Cryptorchidism	ORPHA:3380
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cryptorchidism	OMIM:614230
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Abnormal eyelash...	ORPHA:2556
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis	OMIM:609136
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia	OMIM:616271
Cockayne Syndrome A	Dry hair, Retinal atrophy, Retinal pigment epithelial mottling, Splenomegaly, Cryptorchidism, Opt...	OMIM:216400
Neuroocular Syndrome	Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Peters anomaly, Stellate iri...	OMIM:619539
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal deg...	OMIM:234200
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Alg12-Cdg	Retinal detachment, Decreased serum insulin-like growth factor 1, Partial absence of specific ant...	ORPHA:79324
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Splenomegaly, Cryptorchidism, Optic atrophy, Abnormality of s...	OMIM:133540
Shwachman-Diamond Syndrome 2	Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat...	ORPHA:163746
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Decreased circulating cortisol level	OMIM:609734
Ramon Syndrome	Pigmentary retinopathy, Optic disc pallor, Hypertrichosis	OMIM:266270
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:580
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Extramedullary hematopoiesis	ORPHA:79303
Infantile Liver Failure Syndrome 3	Splenomegaly, Prolonged prothrombin time	OMIM:618641
Sialuria	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:3166
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:217085
Hardikar Syndrome	Decreased serum insulin-like growth factor 1, Hematemesis, Hypersplenism, Splenomegaly, Hepatospl...	OMIM:301068
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Papilledema, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:217093
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Thymus...	ORPHA:744
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Cryptorchidism	OMIM:618280
Cystinosis, Nephropathic	Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mottling, Pigmentary retinopat...	OMIM:219800
Monosomy 13Q34	Hematochezia, Prolonged prothrombin time, Horizontal eyebrow, Epistaxis	ORPHA:96168
Congenital Disorder Of Glycosylation, Type Ia	Rod-cone dystrophy, Prolonged prothrombin time, Thrombocytosis, Decreased circulating IgG level, ...	OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Splenomegaly, Prolonged prothrombin time	OMIM:613812
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Abnormality of hair texture	ORPHA:88618
Trisomy 8P	Astigmatism, Heterochromia iridis	ORPHA:264450
Brittle Cornea Syndrome	Retinal detachment, Bruising susceptibility, Abnormality of hair pigmentation	ORPHA:90354
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Hepatosplenomegaly	ORPHA:367
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Classical Ehlers-Danlos Syndrome	Ecchymosis, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Decreased circulating IgG level	OMIM:613070
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia	ORPHA:20
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Generalized hypopigmentation, Fair hair, Blue irides	OMIM:604292
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Generalized hypopigmentation, Fair hair, Blue irides	OMIM:129900
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy, Iris coloboma	OMIM:309801
Down Syndrome	Brushfield spots	OMIM:190685
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Prolonged prothrombin time, Optic atrophy	OMIM:618329
Williams Syndrome	Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea...	ORPHA:904
Cancer-Associated Retinopathy	Optic disc pallor, Retinal pigment epithelial atrophy, Retinal atrophy, Testicular neoplasm, Fove...	ORPHA:71505
Marburg Hemorrhagic Fever	Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo...	ORPHA:99826
Yellow Fever	Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos...	ORPHA:99829
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Prolonged prothrombin time	OMIM:614921
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia	OMIM:276700
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Optic disc hypoplasia, Cryptorchidism, Synophrys, Optic atrophy, Increased ser...	ORPHA:3455
Alagille Syndrome 1	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:118450
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Prolonged prothrombin time, Polycythemia	ORPHA:309854
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Decreased circulating antibod...	ORPHA:247598
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Pigmentary retinopathy, Sparse scalp hair	OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Williams-Beuren Syndrome	Premature graying of hair, Blue irides	OMIM:194050
Isolated Biliary Atresia	Splenomegaly, Prolonged prothrombin time	ORPHA:30391
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr...	OMIM:619525
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti...	ORPHA:90062
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Pr...	ORPHA:171
1P36 Deletion Syndrome	Cataract, Ocular albinism	ORPHA:1606

Histopathology

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

There is no histopathology data for Hps3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hps3.

No publications found that use IMPC mice or data for Hps3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hps3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hps3^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hps3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hps3^{tm3e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hps3^{tm42091(L1L2_Pgk_PM)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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