Gene Summary

Name:
cyclin dependent kinase inhibitor 2A
Synonyms:
ARF-INK4a,  INK4a-ARF,  p19ARF MTS1,  Ink4a/Arf,  p16,  p19ARF,  Arf,  Pctr1,  p16INK4a

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult 2.82×10-06
abnormal eye morphology Cdkn2atm1a(EUCOMM)Wtsi HOM   Early adult 1.88×10-07
abnormal lens morphology Cdkn2atm1a(EUCOMM)Wtsi HOM Early adult 2.82×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

19 Images

Legacy Phenotype Associated Images

View all 100 images

View all 22 images

Human diseases caused by Cdkn2a mutations

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

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

The table below shows human diseases associated to Cdkn2a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cdkn2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Schwannomatosis 2
Spinal cord tumor, Schwannoma OMIM:615670
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Prostate Cancer/Brain Cancer Susceptibility
Prostate cancer, Neoplasm of the central nervous system OMIM:603688
Schwannomatosis 1
Spinal cord tumor, Schwannoma, Meningioma OMIM:162091
Familial Adenomatous Polyposis 3
Breast carcinoma, Neoplasm of the skin, Bladder neoplasm, Meningioma OMIM:616415
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold, Red... OMIM:605750
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Melanoma, Cutaneous Malignant, Susceptibility To, 2
Cutaneous melanoma OMIM:155601
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Myopia, Progressive visual loss, Retinal detachment, Posterior vitre... OMIM:616468
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Glioma Susceptibility 3
Astrocytoma, Medulloblastoma, Glioblastoma multiforme OMIM:613029
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Visual impairment, Retinal exudate, Tractional retinal detachment, R... OMIM:613310
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Visual loss, ... OMIM:143200
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Medulloblastoma
Medulloblastoma OMIM:155255
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss,... OMIM:312700
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Visual loss, Blind-spot enlargment, Retinal thinning, Cysto... ORPHA:179
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Chorioretinal Atrophy, Progressive Bifocal
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment OMIM:600790
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Blurred vision, Photophobia, Tractional retin... ORPHA:209943
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Retinopathy Of Prematurity
Abnormal macular morphology, Blindness, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tract... ORPHA:90050
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Nyctalopia, Attenuatio... OMIM:613194
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Visual loss, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Melanoma-Astrocytoma Syndrome
Astrocytoma, Cutaneous melanoma OMIM:155755
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Visual loss, Blindness, Su... ORPHA:59181
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, Blindness, External genital hypoplasia OMIM:268010
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Vitelliform-like macular lesions, Choroideremia, Visu... ORPHA:99000
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Late-Onset Retinal Degeneration
Retinopathy, Visual loss, Retinal degeneration, Blindness, Rod-cone dystrophy, Sub-RPE deposits, ... OMIM:605670
Fibromatosis, Gingival, 1
Gingival fibromatosis OMIM:135300
Stargardt Disease 3
Visual impairment, Macular dystrophy, Macular atrophy, Macular flecks, Reduced visual acuity OMIM:600110
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Central Areolar Choroidal Dystrophy
Visual loss, Visual impairment, Slow decrease in visual acuity, Dyschromatopsia, Hypopigmentation... ORPHA:75377
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy, Reduced visual acuity OMIM:617111
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Central scotoma, Macular dystrophy, Optic disc pallor, Reduced visual acu... OMIM:616170
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Macular Dystrophy, Vitelliform, 5
Central scotoma, Moderately reduced visual acuity, Macular dystrophy, Vitelliform-like macular le... OMIM:616152
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Retinitis Pigmentosa 3
Rod-cone dystrophy, Reduced visual acuity OMIM:300029
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Central scotoma, Color vision defect, Visual impairment, Myopia, Retinal de... OMIM:300476
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Sarco... ORPHA:44890
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Familial Drusen
Visual loss, Macular hyperpigmentation, Subretinal fluid, Metamorphopsia, Abnormality of retinal ... ORPHA:75376
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Hereditary Gingival Fibromatosis
Gingival fibromatosis ORPHA:2024
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Visual impairment, Myopia, Peripapillary atrophy, Retinal det... OMIM:616188
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma, Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneou... OMIM:613736
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Dyschromatopsia, Macular dystrophy, Perifove... OMIM:608051
Glioma Susceptibility 9
Astrocytoma, Glioma, Leukemia OMIM:616568
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Fibromatosis, Gingival, With Progressive Deafness
Gingival fibromatosis OMIM:135550
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibromas, Intestinal obstruction, Dysphagia OMIM:606764
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Congenital stationary night blindness, Visual impairment OMIM:300071
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... OMIM:153600
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Optic ner... OMIM:165550
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Blindness, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule ... OMIM:180210
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Retinitis Pigmentosa 80
Blindness, Progressive visual loss, Macular atrophy OMIM:617781
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Retinitis Pigmentosa 11
Nyctalopia, Blindness, Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration... OMIM:600138
Fibromatosis, Gingival, 5
Gingival fibromatosis OMIM:617626
Macular Dystrophy, Vitelliform, 2
Visual impairment, Subretinal fluid, Macular dystrophy, Cystoid macular degeneration, Reduced vis... OMIM:153700
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Macular drusen, Reduced... OMIM:608850
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Phth... ORPHA:91495
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous, Myopia OMIM:609508
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Blindness, Retinal exudate, Ret... OMIM:133780
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Peripheral retinal avascularization, Blindness, Retinal exudate, Fal... OMIM:601813
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma OMIM:601200
Bietti Crystalline Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Color vis... ORPHA:41751
Macular Dystrophy, Vitelliform, 1
Visual impairment, Macular dystrophy, Vitelliform-like macular lesions, Visual field defect, Redu... OMIM:153840
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Macular Dystrophy, Patterned, 1
Dark choroid, Reticular retinal dystrophy, Macular dystrophy, Pattern dystrophy of the retina, Ch... OMIM:169150
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Amblyopia, Retinal pigment epithelial mottl... ORPHA:97341
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Senior-Loken Syndrome 6
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Choroideremia
Constriction of peripheral visual field, Hypopigmentation of the fundus, Chorioretinal degenerati... OMIM:303100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Cataract, C... OMIM:221900
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Retinitis Pigmentosa 27
Blindness, Rod-cone dystrophy, Macular edema, Chorioretinal atrophy, Macular atrophy, Peripapilla... OMIM:613750
Newfoundland Rod-Cone Dystrophy
Color vision defect, Retinal dystrophy, Nyctalopia, Scotoma, Visual impairment OMIM:607476
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Oslam Syndrome
Anemia, Osteosarcoma, Neoplasm OMIM:165660
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Blurred vision, Retinal fold, Visual field defect, Exudative retinal detachment... ORPHA:209956
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Central scotoma, Central retinal vessel vascular tortuosity, Retinal nerve fiber edema, Retinal t... OMIM:619382
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Blindness, Retinal detachment, Posterior r... OMIM:193235
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, Drusen OMIM:616151
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Progressive visual loss, Rod-cone dystrophy, Optic disc pallor, Macul... OMIM:613862
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment, Myopia ORPHA:90654
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 78
Cystoid macular edema, Photopsia, Optic disc pallor, Visual field defect, Nyctalopia, Reduced vis... OMIM:617433
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 18
Progressive visual field defects, Rod-cone dystrophy, Retinal arteriolar constriction, Nyctalopia... OMIM:601414
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, ... OMIM:600059
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Breast carcinoma, Brain neoplasm, Neoplasm of the rectum, Adenocarcinoma of... ORPHA:447877
Subependymoma
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251639
Ependymoma
Neoplasm of the breast, Spinal cord tumor, Supratentorial neoplasm, Neoplasm of the liver, Ovaria... ORPHA:251636
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Refractory anemia ... OMIM:133180
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Nyctalopia, Cone/cone-rod dystrophy OMIM:610282
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Cone-Rod Dystrophy 12
Bull's eye maculopathy, Central scotoma, Color vision defect, Cone/cone-rod dystrophy, Nyctalopia... OMIM:612657
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macula... OMIM:608161
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Schopf-Schulz-Passarge Syndrome
Poroma, Basal cell carcinoma, Squamous cell carcinoma, Apocrine hidrocystoma OMIM:224750
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Retinitis Pigmentosa 63
Rod-cone dystrophy, Blurred vision, Optic disc pallor, Nyctalopia OMIM:614494
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma OMIM:603641
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 20
Rod-cone dystrophy, Severely reduced visual acuity, Nyctalopia, Attenuation of retinal blood vess... OMIM:613794
Macular Degeneration, X-Linked Atrophic
Macular degeneration, Reduced visual acuity OMIM:300834
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Bothnia Retinal Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Retinal d... ORPHA:85128
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Gastrointestinal hemorrhage, Dysphagia, Intestinal ... ORPHA:97286
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Nyctalopia, Visual field defect OMIM:615725
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Color vision defect, Visual impairment, Myopia, Hypoautofluor... OMIM:304020
Retinoschisis Of Fovea
Visual loss, Hypermetropia, Macular dystrophy, Rod-cone dystrophy, Foveoschisis, Mildly reduced v... OMIM:268080
Cone-Rod Dystrophy 21
Photophobia, Macular atrophy, Retinal dystrophy, Nyctalopia, Reduced visual acuity OMIM:616502
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment, High myopia OMIM:614284
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Macular dystrophy, Reduced visual acuity OMIM:601553
Neovascular Glaucoma
Visual loss, Retinal vein occlusion, Retinal vascular proliferation, Visual acuity test abnormali... ORPHA:94058
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Retinitis Pigmentosa 47
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Visual impairment OMIM:613758
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, High myopia, Peripheral vitreoretinal degeneration OMIM:614292
Retinal Cone Dystrophy 3A
Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dystrophy, Nyctalopia, Reduced visual... OMIM:610024
Leber Congenital Amaurosis 11
Visual impairment, Reduced visual acuity OMIM:613837
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Oslam Syndrome
Abnormality of neutrophils, Osteosarcoma, Increased mean corpuscular volume ORPHA:2760
Lichen Amyloidosis
Pruritus ORPHA:49804
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Mast Cell Sarcoma
Mastocytosis, Sarcoma, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Color vision defect, Progressive visual loss, Rod-cone dystro... OMIM:613660
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Micro... OMIM:251270
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Paragangliomas 5
Paraganglioma OMIM:614165
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuat... OMIM:613428
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor, Visual field defect, Nyctalopia OMIM:614181
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 17
Color vision defect, Rod-cone dystrophy, Photophobia, Bone spicule pigmentation of the retina, Ny... OMIM:600852
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
N Syndrome
Cryptorchidism, Hypospadias, Leukemia, Neoplasm OMIM:310465
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Corneal Dystrophy, Avellino Type
Visual impairment, Reduced visual acuity OMIM:607541
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Paragangliomas 4
Gastrointestinal stroma tumor, Chemodectoma, Paraganglioma, Neuroblastoma, Paraganglioma of head ... OMIM:115310
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Leber Congenital Amaurosis 4
Blindness, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, Attenuation o... OMIM:604393
Cone-Rod Dystrophy 22
Bull's eye maculopathy, Absent foveal reflex, Retinal pigment epithelial atrophy, Hypoautofluores... OMIM:619531
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Visual impairment, Rod-cone dystrophy, Optic disc pallor, Bon... OMIM:601718
Cone Dystrophy 3
Progressive visual loss, Photophobia, Macular atrophy, Cone/cone-rod dystrophy, Reduced visual ac... OMIM:602093
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of retinal b... OMIM:614180
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Progressive visual loss, Rod-cone dystrophy, Optic disc pallor, Phot... OMIM:614500
Macular Degeneration, Age-Related, 13
Macular scar, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Cataract 7
Visual loss, Mildly reduced visual acuity OMIM:115660
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Cataract, Retinal detachment, Corne... ORPHA:1473
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration, Visual impairment OMIM:613827
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Visual impairment, Reduced visual acuity OMIM:610156
Retinitis Pigmentosa
Rod-cone dystrophy, Constriction of peripheral visual field, Abnormality of fundus pigmentation, ... OMIM:268000
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Optic disc pallor, Photophobia, Retinal dystrophy, Nyctalopia OMIM:616079
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Acute myeloid leukemia, Colon cancer OMIM:246470
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Myopia, Blindness, Retinal exudate,... ORPHA:71213
Retinitis Pigmentosa 7
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Adult-onset night ... OMIM:608133
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Abnormality of vision, Nyct... ORPHA:180
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Retinitis Pigmentosa 4
Blindness, Rod-cone dystrophy, Pigmentary retinopathy, Visual field defect, Nyctalopia OMIM:613731
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Microphthalmia, Optic disc pallor, Macular atrophy, Optic atr... OMIM:616171
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Fundus Albipunctatus
Retinal flecks, Nyctalopia, Fundus albipunctatus OMIM:136880
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Uveal Melanoma
Visual loss, Zonular cataract, Retinal detachment, Photopsia, Choroidal melanoma, Iris melanoma, ... ORPHA:39044
Myopia 3, Autosomal Dominant
Retinal detachment, High myopia OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment, High myopia OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment, High myopia OMIM:608474
Myopia 22, Autosomal Dominant
Visual impairment, Myopia, Reduced visual acuity OMIM:615420
Retinal Detachment
Retinal detachment OMIM:180050
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Microphthalmia, Macular atrophy, Cystoid macular ... OMIM:267760
Stargardt Disease
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Retinal thinning, Aplas... ORPHA:827
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Cavitary Optic Disc Anomalies
Peripapillary atrophy, Nyctalopia, Visual field defect, Reduced visual acuity OMIM:611543
Cone-Rod Dystrophy 13
Color vision defect, Visual impairment, Macular degeneration, Photophobia, Cone/cone-rod dystroph... OMIM:608194
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Microphth... OMIM:611040
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Neurofibromatosis Type 2
Spinal meningioma, Blindness, Cortical cataract, Meningioma, Neoplasm of the skin, Neuroma, Gliom... ORPHA:637
Tumor Predisposition Syndrome
Lung adenocarcinoma, Cutaneous melanoma, Meningioma, Uveal melanoma, Renal cell carcinoma OMIM:614327
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Congenital blindness, Exudative vitreoretinopathy, Moderately... ORPHA:2788
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Constriction of periphe... OMIM:120970
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, High hypermetropia, Reduced visual acuity OMIM:617879
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Microspherophakia-Metaphyseal Dysplasia
Myopia, Retinal detachment, Lens subluxation, Lens coloboma, Microspherophakia OMIM:157151
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Keratoconus 9
Reduced visual acuity OMIM:617928
Retinal Aplasia
Congenital blindness OMIM:179900
Tritanopia
Abnormal retinal morphology, Color vision test abnormality, Tritanomaly, Photophobia, Reduced vis... ORPHA:88629
Cone Dystrophy 4
Visual impairment, Dyschromatopsia, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity OMIM:613093
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Const... OMIM:606068
Retinitis Pigmentosa 12
Rod-cone dystrophy, Nyctalopia OMIM:600105
Macular Dystrophy, Retinal, 1, North Carolina Type
Central scotoma, Peripheral retinal atrophy, Macular dystrophy, Abnormality of macular pigmentati... OMIM:136550
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Microspherophakia With Hernia
Retinal detachment, Myopia OMIM:157150
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Bothnia Retinal Dystrophy
Retinal dystrophy, Nyctalopia, Macular degeneration OMIM:607475
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis, Microphthalmia, Co... ORPHA:324416
Usher Syndrome, Type Iiia
Rod-cone dystrophy, Nyctalopia, Visual field defect, Reduced visual acuity OMIM:276902
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold OMIM:613517
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinitis Pigmentosa 37
Rod-cone dystrophy, Pigmentary retinopathy, Tritanomaly, Photophobia, Nyctalopia, Cystoid macular... OMIM:611131
Achromatopsia 7
Absent foveal reflex, Central scotoma, Hypoplasia of the fovea, Achromatopsia, Photophobia, Macul... OMIM:616517
Retinitis Pigmentosa 79
Optic disc pallor, Photophobia, Macular atrophy, Nyctalopia, Constriction of peripheral visual fi... OMIM:617460
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Vitreoretinochoroidopathy
Color vision defect, Abnormality of chorioretinal pigmentation, Dyschromatopsia, Blindness, Retin... OMIM:193220
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Retinitis Pigmentosa 92
Pigmentary retinopathy, Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field,... OMIM:619614
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Neoplasm OMIM:601811
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration, Nyctalopia OMIM:615922
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Morning Glory Disc Anomaly
Amblyopia, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Visual impairment, Congenital stationary night blindness, Myopia OMIM:614565
Retinitis Pigmentosa 60
Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:613983
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment ORPHA:436182
Nystagmus 1, Congenital, X-Linked
Reduced visual acuity, Mildly reduced visual acuity OMIM:310700
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Cone-Rod Dystrophy 20
Central scotoma, Color vision defect, Visual impairment, Cone/cone-rod dystrophy, Constriction of... OMIM:615973
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Neoplasm of the adrenal cortex, Chondrosarcoma, Hemangiomatos... ORPHA:163634
Aniridia 3
Cataract OMIM:617142
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Retinitis Pigmentosa 2
Bull's eye maculopathy, Pericentral scotoma, Central scotoma, Fundus atrophy, High myopia, Ring s... OMIM:312600
Optic Atrophy 12
Dyschromatopsia, Optic disc pallor, Photophobia, Abnormal Ishihara plate test, Optic atrophy, Red... OMIM:618977
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria ORPHA:2714
Usher Syndrome, Type Iv
Retinal degeneration, Ring scotoma, Retinal atrophy, Hyperautofluorescent macular lesion, Bone sp... OMIM:618144
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Night Blindness, Congenital Stationary, Type1I
Nyctalopia, Tritanomaly OMIM:618555
Carney Triad
Gastrointestinal stroma tumor, Paraganglioma, Gastrointestinal hemorrhage, Leiomyosarcoma, Pheoch... ORPHA:139411
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Optic Atrophy 9
Paracentral scotoma, Reduced visual acuity, Optic atrophy, Red-green dyschromatopsia, Visual impa... OMIM:616289
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Spermatogenic Failure 4
Azoospermia OMIM:270960
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Retinitis Pigmentosa 1
Myopia, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Constriction of ... OMIM:180100
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Visual impairment, Optic disc pallor, Cerebral visual impairment, Visual field defect, Optic atro... OMIM:615722
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Blindness, Pigmentary retinopathy, Optic disc pallor, Photo... OMIM:204100
Blue Cone Monochromacy
Visual impairment, Myopia, Blue cone monochromacy, Abnormality of macular pigmentation, Photophob... OMIM:303700
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field OMIM:616544
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Myopia, Amblyopia, Cataract, Retinal detachment, Astigmatism ORPHA:250984
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Morm Syndrome
Progressive night blindness, Micropenis, Retinal atrophy, Retinal dystrophy, Visual impairment ORPHA:75858
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Severely reduced visual acuity, Optic atrophy OMIM:309555
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Color vision defect, Retinal detachment, Retinal pigment epit... ORPHA:364055
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Hyp... OMIM:172870
Bestrophinopathy, Autosomal Recessive
Reduced visual acuity, Retinal pigment epithelial atrophy, Hypermetropia, Retinal flecks OMIM:611809
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Recurrent skin infections, Verrucae, Pustule, Seborrheic dermatitis ORPHA:302
Liposarcoma
Sarcoma ORPHA:69078
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Myopia, Abnormality of retinal pigmentation, Hypermetropia... ORPHA:215
Gardner Syndrome