Registered for phenotyping at IMPC

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

Gene Summary

Name:
nephronophthisis 4 (juvenile) homolog (human)
Synonyms:
4930564O18Rik,  nmf192

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nphp4 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 Nphp4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy ORPHA:3156
Senior-Loken Syndrome 4
Rod-cone dystrophy OMIM:606996
Nephronophthisis 4
OMIM:606966

The table below shows human diseases predicted to be associated to Nphp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Retinal dystrophy OMIM:615860
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Pigmentary retinopathy OMIM:614307
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Infertility, Rod-cone dystrophy OMIM:300719
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, R... OMIM:610951
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Pachygyria, Chorioretinal ... OMIM:251270
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Hypoplasia o... OMIM:275400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Multiple Mitochondrial Dysfunctions Syndrome 5
Pachygyria, Pigmentary retinopathy OMIM:617613
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Polymicrogyria OMIM:615771
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy OMIM:619090
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Pigmentary retinopathy OMIM:268050
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadism, Hypogonadotropic hypogonadism, Decreased ferti... ORPHA:1173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Gonadal dysgenesis, Type II lissencephaly OMIM:615041
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Laurence-Moon Syndrome
Scrotal hypoplasia, Micropenis, Pigmentary retinopathy OMIM:245800
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Cofs Syndrome
Hypogonadism, Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy OMIM:204100
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, External genital hypoplasia OMIM:268010
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal testis morphology, Abnormal retinal vascular morpho... ORPHA:791
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of neuronal migration, Abnormality of the optic ... ORPHA:65
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Polycystic o... ORPHA:3085
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Hypergonadotropic hypogonadism, Cerebral atrophy, Polycystic ovaries, Cer... OMIM:268020
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy OMIM:204000
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Narp Syndrome
Retinal pigment epithelial mottling, Cerebral cortical atrophy, Corticospinal tract atrophy, Reti... ORPHA:644
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Congenital Glaucoma
Retinal detachment ORPHA:98976
Bardet-Biedl Syndrome 3
External genital hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Bardet-Biedl Syndrome 4
Cryptorchidism, Retinal degeneration, External genital hypoplasia, Hypogonadism, Rod-cone dystrophy OMIM:615982
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Irregular menstruation, Retinal degeneration, Bone spicule ... OMIM:615986
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Micropenis ORPHA:370968
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Type II lissencephaly OMIM:614830
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration ORPHA:44
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Albinism, Freckling, Hypopigmentation... ORPHA:79434
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Primary amenorrhea, Hypogonadotropic hypogonadism, De... ORPHA:2235
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy, Type II lissencephaly OMIM:613154
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neu... ORPHA:2518
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Bardet-Biedl Syndrome 2
External genital hypoplasia, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy, Micropenis OMIM:613156
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular hyper... OMIM:120970
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic nevus, Abnormality of ne... ORPHA:2481
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Congenital stationary night blindness,... ORPHA:8
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy OMIM:268100
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, Re... ORPHA:5
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Patent ductus arteriosus ORPHA:290
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Gray matter heterotopia, Cerebr... ORPHA:1493
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Bardet-Biedl Syndrome
Cryptorchidism, Pigmentary retinopathy, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Cerebellar atrophy, Decreased nerve conduction velocity, Hypog... OMIM:610651
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Type II lissencephaly ORPHA:324416
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, External genital hypoplasia, Hypogonadism, Retinal degeneration OMIM:615994
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Wolfram Syndrome 1
Testicular atrophy, Optic atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:222300
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Micro Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Pachygyria, Retinal coloboma, Clitoral hypop... ORPHA:2510
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy, Optic disc pa... ORPHA:79264
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Oligospermia, Oligomenorrhea, Ab... ORPHA:52901
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Corpus callosum atrophy, Abnormal sperm head morphology, Cer... ORPHA:320391
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Usher Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Decreased fertility ORPHA:886
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of ... ORPHA:88628
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Blotching pigmentation of the... OMIM:560000
Nephronophthisis 14
Retinal degeneration OMIM:614844
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Norrie Disease
Retinal dysplasia, Retinal fold, Retinal detachment, Optic atrophy OMIM:310600
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Polymicrogyria, Optic nerve dysplasia, ... OMIM:614866
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Optic atrophy ORPHA:585
Myopia, High, With Cataract And Vitreoretinal Degeneration
Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Male hypogonadism, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Fe... OMIM:240300
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia, Cerebellar atrophy ORPHA:276183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Myopathy, Mitochondrial, And Ataxia
Primary amenorrhea, Pigmentary retinopathy OMIM:617675
Werner Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Premature graying of hair, Abnormal testis... ORPHA:902
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Primary amenorrhea, Pigmentary retinopathy, Optic disc pallor ORPHA:502423
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hypopigmentation, Multiple ca... ORPHA:1969
Gapo Syndrome
Oligospermia, Amenorrhea, Hypopigmented skin patches, Dysmenorrhea, Hypogonadism, Optic atrophy ORPHA:2067
Hardikar Syndrome
Mottled pigmentation, Pigmentary retinopathy, Patent ductus arteriosus, Chorioretinal degeneratio... OMIM:612726
Cohen Syndrome
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Optic atrophy, Chorioretinal dys... OMIM:216550
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Decreased amplitude of sensory action potentials, Periventricular heteroto... OMIM:618733
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Clitoral hypertr... OMIM:214110
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration ORPHA:48818
Alstrom Syndrome
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Irregular menstruation, Pigmentary retin... OMIM:203800
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Neurodegeneration, Papilledema OMIM:309900
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Pigmentary retinopathy, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypos... OMIM:309801
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Autosomal Dominant Cerebellar Ataxia
Azoospermia, Macular degeneration, Pigmentary retinopathy, Retinal degeneration ORPHA:99
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility, Rod-cone dystrophy ORPHA:244
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Aicardi Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Pa... ORPHA:50
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Pigmentary retinopathy, Absent brainstem auditory responses, A... ORPHA:90321
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Gray matter heterotopia, Patent ductus ... OMIM:214100
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Cerebellar atrophy OMIM:613909
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Ovarian cyst, Oligospermia, Amenorrhea, Impotenc... ORPHA:91348
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neu... ORPHA:192
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Retinal flecks, Pallidal degeneration, Retinal degeneration, Optic atroph... ORPHA:157850
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s... ORPHA:330015
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hyperpigmentation of the skin, Hypogonadotropic hypogo... OMIM:300200
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Cohen Syndrome
Abnormality of skin pigmentation, Cryptorchidism, Abnormality of retinal pigmentation, Optic atro... ORPHA:193
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment OMIM:615113
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Pigmentary retinopathy ORPHA:71212
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Ramon Syndrome
Enlarged labia minora, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Classic Homocystinuria
Abnormality of retinal pigmentation, Optic atrophy, Retinal detachment ORPHA:394
Bloom Syndrome
Azoospermia, Oligospermia, Cafe-au-lait spot, Male infertility, Retinopathy, Premature ovarian in... ORPHA:125
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612650
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Pigmentary retinopathy OMIM:612582
Cystinosis, Nephropathic
Hypopigmentation of hair, Male hypogonadism, Pigmentary retinopathy, Retinal pigment epithelial m... OMIM:219800
Cockayne Syndrome A
Abnormality of skin pigmentation, Cryptorchidism, Pigmentary retinopathy, Irregular menstruation,... OMIM:216400
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Ambiguous genitalia, Abnormality of retinal pigmentation, Chori... ORPHA:2556
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Myotonic Dystrophy 2
Hypogonadism, Oligospermia OMIM:602668
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Abnormality of t... ORPHA:2526
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Abnormality of peripheral somatosensory evoked potentials, A... ORPHA:466768
Ciliary Dyskinesia, Primary, 19
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:614935
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus, Pigmentary retinopathy OMIM:618460
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degeneration, Hyperpigme... OMIM:234200
Melas
Vitiligo, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Hypogonadotropic hypo... ORPHA:550
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Antiphospholipid Syndrome, Familial
Vitritis, Central retinal artery occlusion, Retinal detachment, Retinal vasculitis OMIM:107320
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Pigmentary retinopathy OMIM:277400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Patent ductus arteriosus, Brain atrophy ORPHA:505248
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... ORPHA:167
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Melanocytic nevus, Oligospermia OMIM:314300
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Patent ductus arteriosus, Retinal dystrophy, Hypoplasia of penis, Hy... ORPHA:251066
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Cerebral atrophy, Atrophy of the spinal cord, Retinal degeneration, Abnor... ORPHA:79282
Trisomy 18
Cryptorchidism, Abnormality of retinal pigmentation, Abnormal morphology of female internal genit... ORPHA:3380
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Cancer-Associated Retinopathy
Vitritis, Retinal atrophy, Diffuse cerebellar atrophy, Prostate cancer, Retinal pigment epithelia... ORPHA:71505
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinal degeneratio... ORPHA:580
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Abetalipoproteinemia
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy ORPHA:14
Neurofibromatosis Type 1
Chorioretinal coloboma, Abnormality of retinal pigmentation, Cryptorchidism, Freckling, Heterochr... ORPHA:636
Cockayne Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Cer... ORPHA:191
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Pituitary Dermoid And Epidermoid Cysts
Hypogonadism, Oligomenorrhea, Amenorrhea, Oligospermia ORPHA:91351
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary ame... ORPHA:79239
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... ORPHA:217085
Cockayne Syndrome B
Abnormality of skin pigmentation, Cryptorchidism, Pigmentary retinopathy, Cerebral atrophy, Abnor... OMIM:133540
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... ORPHA:217093
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Premature graying of hair, Abnormal testis... ORPHA:79474
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Retinal degeneration, Central nervous system degeneration, Optic atrophy,... ORPHA:581
Proteus Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Ce... ORPHA:744
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Pigmentary retinopathy, Cerebral atrophy, Cone/cone-rod dystrophy, Cerebellar atrophy, Optic atro... ORPHA:404454
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Oligomenorrhea, Oligospermia, Precocious puberty, Female pseudo... ORPHA:786
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Renal tubular epithelial necrosis, Cystoid macular edema, Pa... ORPHA:91500
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Tetrasomy 9P
Abnormal chorioretinal morphology, Infertility, Cryptorchidism, Pachygyria, Oligospermia, Polymic... ORPHA:3310
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligospermia OMIM:614813
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Cryptorchidism, Oligospermia, Abnormal ovarian morphology, Increased size of... ORPHA:95699
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Irregula... ORPHA:90793
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Alagille Syndrome 1
Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Pearson Syndrome
Hyperpigmentation of the skin, Cafe-au-lait spot, Pigmentary retinopathy ORPHA:699
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Male infertility, Micropenis, A... ORPHA:1772
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Macroorch... ORPHA:91
Senior-Loken Syndrome 4
Rod-cone dystrophy OMIM:606996
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Pigmentary retinopathy, Optic disc hypoplasia, Polymicrogyria, Wide penis, Hypogo... ORPHA:3455
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Cryptorchidism, Hypergonadotropic hypogonadism, Cafe-au-lait sp... OMIM:227650
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Hypoplasia of the uterus, Epididymal cyst, Cerebral cortical atrophy, Bic... OMIM:137920
Alström Syndrome
Hyoplasia of the Leydig cells, Oligospermia, Irregular menstruation, Hypergonadotropic hypogonadi... ORPHA:64
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Noonan Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Hypospadias, Hypogonadism, Male infertility OMIM:163950
Cystic Fibrosis
Male infertility OMIM:219700
Nephronophthisis 4
OMIM:606966

Histopathology

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

There is no histopathology data for Nphp4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nphp4.

No publications found that use IMPC mice or data for Nphp4.

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MGI Allele Allele Type Produced
Nphp4em1(IMPC)Bay Exon Deletion Mice
Nphp4tm598(L1L2_Bact_P) Targeting vectors

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