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Gene: Adamtsl4 MGI:2389008

Gene Summary

Name:

ADAMTS-like 4

Synonyms:

Tsrc1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	Adamtsl4^em1(IMPC)J	HOM	Early adult	2.03×10^-07
increased erythrocyte cell number	Adamtsl4^em1(IMPC)J	HOM	Late adult	7.03×10^-05
abnormal placement of pupils	Adamtsl4^em1(IMPC)J	HOM	Late adult	1.10×10^-07
increased grip strength	Adamtsl4^em1(IMPC)J	HOM	Late adult	7.83×10^-06
absent vibrissae	Adamtsl4^em1(IMPC)J	HOM	Late adult	4.45×10^-05
cataract	Adamtsl4^em1(IMPC)J	HOM	Late adult	6.33×10^-09
irregularly shaped pupil	Adamtsl4^em1(IMPC)J	HOM	Late adult	7.19×10^-08
abnormal coat/ hair morphology	Adamtsl4^em1(IMPC)J	HOM	Early adult	4.97×10^-08
abnormal vibrissa morphology	Adamtsl4^em1(IMPC)J	HOM	Late adult	1.48×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Eye Morphology

Images Ophthalmoscopy

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Combined SHIRPA and Dysmorphology

Images

5 Images

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Auditory Brain Stem Response

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

7 Images

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Human diseases caused by Adamtsl4 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 Adamtsl4 (3 diseases)
Human diseases predicted to be associated with Adamtsl4 (581 diseases)

The table below shows human diseases associated to Adamtsl4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100

The table below shows human diseases predicted to be associated to Adamtsl4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Anterior Segment Dysgenesis 8	Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro...	OMIM:617319
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:613830
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Pupillary Membrane, Persistence Of	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Choroideremia	Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig...	OMIM:303100
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Retinitis Pigmentosa 40	Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo...	OMIM:613801
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua...	OMIM:180210
Bardet-Biedl Syndrome 13	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:615990
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo...	OMIM:608051
Retinitis Pigmentosa 39	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:613809
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,...	ORPHA:59181
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Central Areolar Choroidal Dystrophy	Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin...	ORPHA:75377
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Retinitis Pigmentosa 4	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:613731
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	ORPHA:64734
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata...	OMIM:180104
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Retinitis Pigmentosa 84	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:618220
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Corneal opacity, Pe...	ORPHA:1067
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Familial Drusen	Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ...	ORPHA:75376
Woolly Hair	Abnormal pupil morphology, Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woo...	ORPHA:170
Reticular Dystrophy Of Retinal Pigment Epithelium	Pigmentary retinopathy, Abnormality of retinal pigmentation	OMIM:179840
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Uncombable Hair Syndrome 2	Pili canaliculi, Juvenile cataract, Uncombable hair	OMIM:617251
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Aniridia 3	Cataract	OMIM:617142
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Astigmatism, Pigmentary retinopathy	OMIM:268060
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Cone-Rod Dystrophy 5	Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy	OMIM:600977
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Exfoliation Syndrome	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment...	OMIM:251270
Leber Congenital Amaurosis 8	Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment...	OMIM:613835
Retinitis Pigmentosa 54	Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa 87 With Choroidal Involvement	Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ...	OMIM:618697
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:620102
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Leber Congenital Amaurosis 2	Attenuation of retinal blood vessels, Cataract, Keratoconus, Fundus atrophy, Optic disc pallor, P...	OMIM:204100
Bothnia Retinal Dystrophy	Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ...	ORPHA:85128
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa 61	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:614180
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy	ORPHA:75373
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Retinitis Pigmentosa 76	Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen...	OMIM:617123
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:615725
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e...	ORPHA:41751
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat...	OMIM:616108
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:606068
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy	OMIM:551500
Retinitis Pigmentosa 46	Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d...	OMIM:612572
Retinitis Pigmentosa 17	Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:600852
Retinitis Pigmentosa 90	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:619007
Woolly Hair Nevus	Patchy hypopigmentation of hair, Curly hair, Fine hair, Congenital posterior occipital alopecia, ...	ORPHA:79414
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Retinitis Pigmentosa 80	Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617781
Stargardt Disease	Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi...	ORPHA:827
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Aniridia 1	Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac...	OMIM:106210
Retinitis Pigmentosa 77	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617304
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Nathalie Syndrome	Cataract	ORPHA:2663
Bornholm Eye Disease	Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 2	Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,...	OMIM:312600
Retinitis Pigmentosa 83	Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina...	OMIM:618173
Blindness-Scoliosis-Arachnodactyly Syndrome	Abnormality of retinal pigmentation, Cataract, Lens subluxation, Retinal detachment, Microphakia	ORPHA:171844
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop...	OMIM:602482
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Retinitis Pigmentosa 6	Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:312612
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Leber Congenital Amaurosis	Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P...	OMIM:204000
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Usher Syndrome, Type Iv	Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc...	OMIM:618144
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Achromatopsia	Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl...	ORPHA:49382
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu...	OMIM:304020
X-Linked Retinoschisis	Cataract	ORPHA:792
Erythrocytosis, Familial, 5	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617907
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis	ORPHA:1259
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Senior-Loken Syndrome	Retinal dystrophy, Abnormality of retinal pigmentation, Cataract	ORPHA:3156
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Loose Anagen Syndrome	Abnormal hair morphology, Iris coloboma, Abnormal hair whorl	ORPHA:168
Erythrocytosis, Familial, 4	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:611783
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Oliver-Mcfarlane Syndrome	Retinal degeneration, Pigmentary retinopathy, Central heterochromia	OMIM:275400
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Astigmatism, Cataract, Scarring alopecia of scalp, Ectopia pupillae	OMIM:618727
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract	OMIM:604219
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Long eyelashes, Microcornea, Cataract, Ectopia pupillae, Sclerocornea	OMIM:615877
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Retinitis Pigmentosa 1	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180100
Galactosemia Iv	Cataract	OMIM:618881
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Axenfeld-Rieger Syndrome, Type 1	Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop...	OMIM:180500
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Abnormality of retinal pigmentation	ORPHA:1264
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis	OMIM:251750
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro...	ORPHA:79435
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos...	OMIM:600132
Distal Monosomy 6P	Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea...	ORPHA:96125
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ...	OMIM:617547
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Enhanced S-Cone Syndrome	Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy	OMIM:268100
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Cofs Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Retinitis Pigmentosa 37	Rod-cone dystrophy, Posterior subcapsular cataract, Nuclear cataract, Cystoid macular degeneratio...	OMIM:611131
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn...	ORPHA:364055
Sjögren-Larsson Syndrome	Retinopathy, Corneal erosion, Macular degeneration, Generalized hyperpigmentation, Abnormality of...	ORPHA:816
Retinitis Pigmentosa 12	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:600105
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Retinitis Pigmentosa	Optic atrophy, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal retinal vascu...	ORPHA:791
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Galactosemia Ii	Cataract	OMIM:230200
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti...	OMIM:615233
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation	ORPHA:2196
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi...	ORPHA:3202
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Punctata Albescens	Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular...	ORPHA:52427
Retinitis Pigmentosa 49	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613756
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Spinocerebellar Ataxia 7	Macular degeneration, Pigmentary retinopathy, Optic atrophy	OMIM:164500
Retinitis Pigmentosa 75	Mixed astigmatism, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of re...	OMIM:617023
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M...	OMIM:145350
Vitreoretinal Degeneration, Snowflake Type	Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi...	OMIM:193230
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Retinitis Pigmentosa 45	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:613767
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1390
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism	ORPHA:54
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re...	OMIM:605549
Ramon Syndrome	Abnormal anterior chamber morphology, Abnormality of retinal pigmentation	ORPHA:3019
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Peroxisomal Acyl-Coa Oxidase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy	OMIM:264470
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati...	ORPHA:79432
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus, Ectopia pupillae, Low anter...	OMIM:618223
Facial Spasm	Anisocoria	OMIM:134300
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Aniridia 2	Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:300029
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract	OMIM:619649
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Posterior polar cataract, Optic disc pallor	OMIM:616562
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ...	OMIM:221900
Abcd Syndrome	Albinism, White eyelashes, White eyebrow, Polycythemia	OMIM:600501
Nathalie Syndrome	Cataract	OMIM:255990
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Retinitis Pigmentosa 51	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613464
Neonatal Adrenoleukodystrophy	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Short Syndrome	Abnormal pupil morphology, Alopecia, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris,...	ORPHA:3163
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Bardet-Biedl Syndrome 9	Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:615986
Triopia	Abnormal pupil morphology, Iris coloboma, Abnormal eyebrow morphology, Microcornea	ORPHA:3374
Uveal Melanoma	Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation	ORPHA:39044
Alexander Disease	Microcoria	OMIM:203450
Cone-Rod Dystrophy 10	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Zika Virus Disease	Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro...	ORPHA:448237
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, White eyelashes, White eyebrow, Abnormali...	ORPHA:897
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca...	OMIM:300578
Norrie Disease	Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac...	OMIM:310600
Narp Syndrome	Retinal arteriolar tortuosity, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic dis...	ORPHA:644
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation	ORPHA:3085
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Posterior Column Ataxia With Retinitis Pigmentosa	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:609033
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental ca...	OMIM:175780
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:290
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation	ORPHA:1433
Cataract 47	Cataract, Microcornea	OMIM:612018
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Arthrogryposis, Distal, Type 5	Retinal fold, Keratoglobus, Abnormality of retinal pigmentation, Astigmatism, Keratoconus	OMIM:108145
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Fine hair, Cataract, Abnormal eyelash morphology, Patc...	ORPHA:573
Coats Disease	Leukocoria	OMIM:300216
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Thrombocytopenia	ORPHA:67048
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Erythrocytosis, Familial, 2	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:263400
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Phacoanaphylactic Uveitis	Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham...	ORPHA:209959
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Cone-Rod Dystrophy 2	Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret...	OMIM:120970
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Iris coloboma, Corneal opacity, Chorioretinal coloboma	ORPHA:1473
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Juvenile Paget Disease	Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2801
Exudative Vitreoretinopathy 6	Cataract, Chorioretinal atrophy	OMIM:616468
Mucolipidosis Type Iv	Retinopathy, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:578
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Proteus-Like Syndrome	Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Thymus hyperplasia, Sp...	ORPHA:2969
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract	OMIM:600881
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Chorioretinal atrophy, Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pig...	ORPHA:5
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Autosomal Dominant Keratitis	Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr...	ORPHA:2334
Isolated Aniridia	Cataract, Peters anomaly, Aniridia	ORPHA:250923
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ...	OMIM:268315
Anterior Segment Dysgenesis 2	Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor...	OMIM:610256
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Chorioretinal degeneration, Abn...	ORPHA:414
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Cataract, Abnorma...	ORPHA:2715
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy	ORPHA:100996
Leigh Syndrome With Leukodystrophy	Pigmentary retinopathy, Optic atrophy	ORPHA:255241
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea	OMIM:116200
Cln3 Disease	Cataract, Bull's eye maculopathy, Pigmentary retinopathy, Optic atrophy	ORPHA:228346
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Revesz Syndrome	Megalocornea, Leukocoria, Fine hair, Aplastic anemia, Sparse hair, Nail dystrophy	OMIM:268130
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Vici Syndrome	Hypopigmentation of the skin, Abnormal macular morphology, Optic atrophy, Abnormality of retinal ...	ORPHA:1493
Mulibrey Nanism	Astigmatism, Iris coloboma, Pigmentary retinopathy, Corneal dystrophy	OMIM:253250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Persistent Hyperplastic Primary Vitreous	Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,...	ORPHA:91495
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Neurocutaneous Melanocytosis	Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Chorioreti...	ORPHA:2481
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Pellagra-Like Syndrome	Cataract	OMIM:260650
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Rieger anomaly, Iris coloboma, Accessory spleen, Low posterior hairline, Highly...	OMIM:194190
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Nail dystrophy, Alopecia totalis	ORPHA:1366
Leber Congenital Amaurosis 15	Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves...	OMIM:613843
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis	OMIM:237800
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:585
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina	ORPHA:88628
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:601777
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat...	OMIM:615631
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Nephronophthisis 11	Anisocoria, Anemia	OMIM:613550
Mowat-Wilson Syndrome	Broad eyebrow, Supernumerary nipple, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma...	OMIM:235730
Refsum Disease	Cataract, Retinopathy, Abnormality of retinal pigmentation	ORPHA:773
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic...	OMIM:616689
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Lowry-Wood Syndrome	Astigmatism, Abnormality of retinal pigmentation	ORPHA:1824
Cataract 3, Multiple Types	Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Weill-Marchesani Syndrome 4	Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb...	OMIM:613195
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Cataract 48	Cataract	OMIM:618415
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Poems Syndrome	Hypertrichosis, Thrombocytosis, Polycythemia, Leukonychia	ORPHA:2905
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Oculodentodigital Dysplasia, Autosomal Recessive	Fine hair, Microcornea, Cataract, Sparse eyelashes, Persistent pupillary membrane	OMIM:257850
Duane Retraction Syndrome	Abnormal pupil morphology, Patchy hypopigmentation of hair, Central heterochromia, Microcornea, H...	ORPHA:233
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microcornea, Cataract, Retinal coloboma	ORPHA:2510
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Cataract	OMIM:614105
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	ORPHA:216866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Wolfram Syndrome 1	Cataract, Pigmentary retinopathy, Optic atrophy	OMIM:222300
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl...	OMIM:613154
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy	ORPHA:79095
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Edict Syndrome	Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus	OMIM:614303
Bardet-Biedl Syndrome 17	Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ...	OMIM:615994
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Livedoid Vasculopathy	Leukocytosis, Anemia, Polycythemia, Pancytopenia	ORPHA:542643
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Cataract 5, Multiple Types	Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract	OMIM:116800
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Alopecia, Sparse eyebrow, Scarring alopecia of scalp, Cataract, Keratitis, Sparse...	OMIM:612843
Alagille Syndrome	Abnormal pupil morphology, Corneal dystrophy, Keratoconus	ORPHA:52
Xeroderma Pigmentosum, Complementation Group B	Freckling, Pigmentary retinopathy, Optic atrophy, Cataract	OMIM:610651
Intestinal Botulism	Mydriasis	ORPHA:178481
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Familial Dysautonomia	Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion	ORPHA:1764
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Clouston Syndrome	Conjunctivitis, Alopecia, Sparse eyebrow, Brittle hair, Alopecia totalis, Fine hair, Nail dystrop...	OMIM:129500
Ifap Syndrome 2	Keratoconjunctivitis sicca, Cataract, Keratitis, Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Brushfield spots, Cataract, Opacification of the corneal stroma, Pigmentar...	OMIM:214110
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Buphthalmos, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Fumarase Deficiency	Polycythemia	OMIM:606812
Chromosome 6Pter-P24 Deletion Syndrome	Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Peters anomaly, Opac...	OMIM:612582
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Cataract 20, Multiple Types	Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract	OMIM:116100
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal...	OMIM:612690
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Cataract, Abnormal eye...	ORPHA:3437
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Pigmentary retinopathy	OMIM:560000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Asplenia, Broad eyebrow, Axenfeld anomaly, Microcornea, Astigmatism, I...	ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Cataract, Corneal dystrophy, Sparse hair	ORPHA:1839
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Usher Syndrome	Astigmatism, Cataract, Abnormality of retinal pigmentation	ORPHA:886
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	ORPHA:33574
Wound Botulism	Mydriasis	ORPHA:178475
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ocular albinism, Iris hypopigmentation, Abnormality of neutrophils, Cataract, White hair, Hypochr...	ORPHA:2720
Inhalational Botulism	Mydriasis	ORPHA:254504
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract	OMIM:601811
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Keratoconjunctivitis, Cataract, Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary re...	OMIM:240300
Cohen Syndrome	Chorioretinal dystrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Optic a...	OMIM:216550
Oculo-Palato-Cerebral Syndrome	Leukocoria, Cataract	ORPHA:2714
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Classic Homocystinuria	Optic atrophy, Abnormality of retinal pigmentation, Ectopia lentis, Cataract, Retinal detachment	ORPHA:394
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Werner Syndrome	White forelock, Cataract, Premature graying of hair, Abnormality of retinal pigmentation	ORPHA:902
Knobloch Syndrome 1	Horizontal eyebrow, Iris transillumination defect, Developmental cataract, Lens subluxation, Alop...	OMIM:267750
Pierson Syndrome	Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi...	OMIM:609049
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:224100
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Fine hair, Microcornea, Cataract, Corneal dystrophy, Sparse hair, Scl...	ORPHA:1806
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Pigmentary retinopathy, Optic atrophy	OMIM:617282
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Coffin-Lowry Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Sitosterolemia 1	Stomatocytosis, Anemia, Corneal arcus, Reticulocytosis, Episodic hemolytic anemia, Chronic hemoly...	OMIM:210250
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Botulism	Mydriasis	ORPHA:1267
Hepatocellular Carcinoma	Thrombocytosis, Thrombocytopenia, Polycythemia, Anemia	ORPHA:88673
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe...	ORPHA:790
Cataract 39, Multiple Types	Anterior polar cataract, Lamellar cataract, Developmental cataract	OMIM:615188
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Breast aplasia, Developmental cataract, Fine hair, Sparse pubic hair, Iris ...	OMIM:181270
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti...	ORPHA:1969
Cohen Syndrome	Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:193
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria	OMIM:231550
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Pigmentary retinopathy, Sclerocornea	OMIM:614230
Foodborne Botulism	Mydriasis	ORPHA:228371
Aceruloplasminemia	Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Ogden Syndrome	Sparse eyebrow, Long eyelashes, Polycythemia, Fine hair, Iron deficiency anemia, Thrombocytopenia	OMIM:300855
Alstrom Syndrome	Subcapsular cataract, Pigmentary retinopathy, Cone/cone-rod dystrophy	OMIM:203800
Osteopetrosis, Autosomal Recessive 5	Anemia, Mydriasis, Pancytopenia, Hepatosplenomegaly, Hypochromic microcytic anemia, Leukocytosis,...	OMIM:259720
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Co...	OMIM:194380
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, High anterior hairline	OMIM:615510
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Oculoauricular Syndrome	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se...	OMIM:612109
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Conjunctivitis, Alopecia, Anemia, Corneal scarring, Cataract, Nail dystrophy	OMIM:226600
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl...	ORPHA:2526
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Anemia, Sparse scalp hair, Lentiglobus, Fine hair, Buphthalmos, Catara...	ORPHA:534
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Splenomegaly	ORPHA:309854
Cataract 30, Multiple Types	Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract	OMIM:116300
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Cahmr Syndrome	Generalized hypertrichosis, Lamellar cataract	OMIM:211770
Bardet-Biedl Syndrome 1	Rod-cone dystrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Retinal dystrophy,...	OMIM:209900
Trichinellosis	Anisocoria, Abnormal uvea morphology, Conjunctival hyperemia, Conjunctivitis	ORPHA:863
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis	OMIM:612653
Cockayne Syndrome	Retinal hemorrhage, Retinal arteriolar constriction, Lentiglobus, Optic atrophy, Retinal atro

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Gene: Adamtsl4 MGI:2389008

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Combined SHIRPA and Dysmorphology

Auditory Brain Stem Response

Human diseases caused by Adamtsl4 mutations