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Gene: Pin1 MGI:1346036

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peptidyl-prolyl cis/trans isomerase, NIMA-interacting 1
Synonyms:
D9Bwg1161e,  0610025L01Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pin1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Small for gestational age, Retin... OMIM:275400
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa Inversa With Deafness
External genital hypoplasia, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Cryptorchidi... OMIM:615982
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Diabetes mel... OMIM:615981
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Stargardt Disease 3
Macular flecks, Macular atrophy, Macular dystrophy OMIM:600110
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Obesity OMIM:615993
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Myeloma, Multiple
Amyloidosis OMIM:254500
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity OMIM:615703
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Azoospermia, Absent facial hair, Hypergonadotropic hypogonadism, Low posterio... ORPHA:2183
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Cone-Rod Dystrophy 11
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Young Syndrome
Azoospermia OMIM:279000
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Micropenis, Truncal obesity ORPHA:75858
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Primary amenorrhea, Hypoplasia of the uterus, Sparse body hair, Eunuchoid habitus, Del... ORPHA:432
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Reduced sperm m... OMIM:602271
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:613862
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... ORPHA:3000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... OMIM:608161
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Optic atrophy OMIM:204200
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Nephronophthisis 15
Retinal degeneration, Obesity OMIM:614845
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Low posterior hairline, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Bardet-Biedl Syndrome 9
Irregular menstruation, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of th... OMIM:615986
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... ORPHA:8
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Achromatopsia
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy OMIM:256730
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... OMIM:613750
Bardet-Biedl Syndrome 17
Rod-cone dystrophy, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy,... OMIM:615994
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Variant Abeta2M Amyloidosis
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Renal amyloidosis, ... ORPHA:314652
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Acys Amyloidosis
Cerebral amyloid angiopathy, Amyloidosis ORPHA:100008
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Diabetes mellitus, Cryptorchidism OMIM:249270
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:261519
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Premature graying of hair, Decreased testi... ORPHA:280679
Senior-Loken Syndrome 9
Rod-cone dystrophy, Hypogonadism, Macular degeneration, Retinal dystrophy, Obesity OMIM:616629
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cryptorchidism ORPHA:404451
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Hemochromatosis, Type 1
Alopecia, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogon... OMIM:235200
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy, Type II diabetes mellitus OMIM:520000
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
48,Xxyy Syndrome
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... ORPHA:10
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex OMIM:616517
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... ORPHA:2232
Macular Degeneration, Age-Related, 3
Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... OMIM:304020
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Premature graying of hair, Decreased testi... OMIM:300845
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Broad eyebrow, Macular degeneration OMIM:612948
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration, Puberty and gonadal disorders, Failure to thrive, Incre... ORPHA:79320
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Ovarian Fibrothecoma
Gonadal calcification, Abnormality of the ovary, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Elevated circulating luteinizing hormone level, Primary... OMIM:614324
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration, Obesity OMIM:604360
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Nephronophthisis 14
Retinal degeneration OMIM:614844
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Hsd10 Mitochondrial Disease
Retinal degeneration, Optic atrophy, Abnormal mitochondrial morphology OMIM:300438
Mucolipidosis Iv
Retinal degeneration, Hypergastrinemia, Optic atrophy OMIM:252650
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex OMIM:615147
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Oguchi Disease
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon ORPHA:75382
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Brittle hair, Macular degeneration, Fine hair, Abnormality of macu... ORPHA:1573
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... OMIM:145350
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... OMIM:270200
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Bardet-Biedl Syndrome 1
Rod-cone dystrophy, Hypogonadism, Hyperautofluorescent macular lesion, Decreased testicular size,... OMIM:209900
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... ORPHA:96179
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Synophrys, Retinal degeneration, Macular atrophy, Attenuation of retinal blood vessels, Geographi... OMIM:619260
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
48,Xxxy Syndrome
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of pe... ORPHA:96263
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Amenorrhea, Hypopla... ORPHA:3130
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Retinitis Punctata Albescens
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... ORPHA:52427
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
8P11.2 Deletion Syndrome
Hypogonadism, Retinal dystrophy, Azoospermia, Hypoplasia of penis, Cryptorchidism, Hypogonadotrop... ORPHA:251066
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Late-Onset Retinal Degeneration
Peripapillary atrophy, Macular degeneration, Choroidal neovascularization, Multifocal subretinal ... ORPHA:67042
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Retinitis Pigmentosa 45
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:613767
49,Xxxxy Syndrome
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... ORPHA:96264
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Rod-cone dystrophy, Absent eyelashes, Retinal degeneration, Absent eyebrow, Cryptorchid... ORPHA:166035
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Reduced sperm motility, Macular atrophy OMIM:615434
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Hypothyroidism, Hypogonadism, Retinal atrophy, Type II diabetes mellitus, Infertility, ... ORPHA:412057
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... OMIM:605549
Sjögren-Larsson Syndrome
Macular degeneration, Retinopathy, Abnormality of retinal pigmentation ORPHA:816
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... OMIM:300424
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... ORPHA:300298
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus, Primary amenorrhea ORPHA:247768
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Cone-Rod Dystrophy 10
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Abetalipoproteinemia
Retinal degeneration, Retinopathy OMIM:200100
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy OMIM:610127
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Retinal degeneration, Optic atrophy ORPHA:442835
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy ORPHA:79264
Scheie Syndrome
Retinal degeneration OMIM:607016
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... OMIM:120970
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Alzheimer Disease 4
Cerebral amyloid angiopathy, Neurofibrillary tangles OMIM:606889
H Syndrome
Alopecia, Abnormal eyebrow morphology, Hypogonadism, Decreased testicular size, Azoospermia, Hype... ORPHA:168569
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration, Obesity OMIM:615630
Werner Syndrome
Retinal degeneration, Alopecia of scalp, Diabetes mellitus, Hypogonadism OMIM:277700
Joubert Syndrome 6
Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma OMIM:610688
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Autosomal Dominant Cerebellar Ataxia
Retinal degeneration, Macular degeneration, Azoospermia, Pigmentary retinopathy ORPHA:99
Paget Disease Of Bone 5, Juvenile-Onset
Retinopathy, Angioid streaks of the fundus, Retinal degeneration, Failure to thrive, Macular scar OMIM:239000
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Ring Chromosome 22 Syndrome
Thick eyebrow, Azoospermia ORPHA:1446
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Hsd10 Disease, Infantile Type
Retinal degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:391428
Aceruloplasminemia
Retinal degeneration, Diabetes mellitus OMIM:604290
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Cerebral amyloid angiopathy, Neurofibrillary tangles OMIM:117300
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Optic atrophy, Testicular atrophy, Diabetes mellitus, Pigment... OMIM:222300
Cancer-Associated Retinopathy
Pancreatic adenocarcinoma, Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on ma... ORPHA:71505
Bloom Syndrome
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... OMIM:210900
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Bloom Syndrome
Retinopathy, Small for gestational age, Premature ovarian insufficiency, Azoospermia, Oligospermi... ORPHA:125
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... OMIM:616959
Myotonic Dystrophy 1
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Leber Congenital Amaurosis 15
Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves... OMIM:613843
Aceruloplasminemia
Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation, Diabetes mellitu... ORPHA:48818
Bone Marrow Failure Syndrome 5
Testicular atrophy, Nail dystrophy, Hypogonadism OMIM:618165
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy ORPHA:168549
Atypical Werner Syndrome
Decreased body weight, Abnormal testis morphology, Premature graying of hair, White forelock, Neo... ORPHA:79474
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, R... OMIM:250410
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Widow's peak, Decreased serum testosterone concentration... OMIM:305400
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Cerebral amyloid angiopathy OMIM:176500
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell... ORPHA:465508
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Trichothiodystrophy
Sparse scalp hair, Tiger tail banding, Brittle hair, Retinal degeneration, Macular degeneration, ... ORPHA:33364
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Chorioretinal atrophy OMIM:210370
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Absent scrotum, Synophrys, Retinal degeneration, Long eyelashes, Hirsutism, Laterally extended ey... OMIM:618479
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy ORPHA:100006
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium ORPHA:436245
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Hypoplastic male exter... OMIM:236670
Senior-Loken Syndrome 8
Pancreatic cysts, Retinal dystrophy, Rod-cone dystrophy, Macular atrophy OMIM:616307
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Fanconi Anemia
Abnormal preputium morphology, Weight loss, Abnormal testis morphology, Hypogonadism, Bicornuate ... ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Azoospermia, Type I... OMIM:602782
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy OMIM:252600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Cockayne Syndrome
Retinal hemorrhage, Dry hair, Retinal arteriolar constriction, Optic atrophy, Retinal atrophy, Re... ORPHA:191
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Cockayne Syndrome A
Irregular menstruation, Dry hair, Pigmentary retinopathy, Hypogonadism, Optic atrophy, Retinal at... OMIM:216400
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Bull's eye maculopathy, ... ORPHA:157850
Pseudoxanthoma Elasticum
Retinal hemorrhage, Retinal peau d'orange, Optic disc drusen, Angioid streaks of the fundus, Macu... OMIM:264800
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration, Thick eyebrow, Hypertrichosis, Low anterior hairline OMIM:248500
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:601777
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Retinal degeneration, Failure to thrive, Macular coloboma, Pigmentary retinopathy,... ORPHA:79282
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration, Obesity, Overweight ORPHA:2822
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... ORPHA:85167
Papillorenal Syndrome
Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Macular hyperpigmentation, Re... OMIM:120330
Say-Barber-Miller Syndrome
Sparse eyebrow, Rod-cone dystrophy, Hypogonadism, Optic atrophy, Macular degeneration, Hirsutism,... ORPHA:3132
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Hyperaldosteronism, Sparse scalp hair, Abnormal calcium-phosphate regulating ... ORPHA:534
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Cerebral Amyloid Angiopathy, App-Related
Cerebral amyloid angiopathy OMIM:605714
Hurler Syndrome
Retinal degeneration, Hirsutism OMIM:607014
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Mucopolysaccharidosis Type 3
Rod-cone dystrophy, Optic atrophy, Synophrys, Retinal degeneration, Hirsutism, Coarse hair, Gener... ORPHA:581
Aapoaiv Amyloidosis
Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits, Cutaneous amyloidosis ORPHA:439232
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Kniest Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative ... ORPHA:485
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, AA amyloidosis OMIM:142680
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Retinal degeneration, Pancreatic fibrosis, Bile duct proliferation OMIM:208500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Azoospermia, Delayed puberty, Papilledema, Cholelithiasis ORPHA:2072
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Optic atrophy, Choroideremia, Anterior hyp... ORPHA:1435
Nephronophthisis 11
Retinal degeneration OMIM:613550
Cockayne Syndrome Type 3
Dry hair, Retinal hemorrhage, Premature graying of hair, Retinal atrophy, Retinal degeneration, R... ORPHA:90324
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus OMIM:177850
Spinocerebellar Ataxia Type 7
Failure to thrive, Macular degeneration, Abnormal fundus morphology, Cone/cone-rod dystrophy ORPHA:94147
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Synophrys, Annular pancreas, Severe failure to thrive, Cholelithi... ORPHA:97297
Knobloch Syndrome
Macular degeneration, Vitreoretinopathy, Retinal detachment, Abnormal hair morphology, Abnormal v... ORPHA:1571
Farber Disease
Failure to thrive, Macular degeneration, Cherry red spot of the macula ORPHA:333
Mucopolysaccharidosis Type 2
Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti... ORPHA:580
Osteopetrosis With Renal Tubular Acidosis
Abnormal retinal morphology, Optic atrophy, Retinal atrophy, Secondary hyperparathyroidism, Failu... ORPHA:2785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal dysplasia OMIM:253280
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, Sparse scalp hair, Rod-cone dystrophy, Frontal upsweep of hair, Fair hair, Macu... OMIM:266920
Alport Syndrome
Retinal flecks, Macular degeneration, Clitoral hypertrophy ORPHA:63
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 1
Retinal degeneration, Pigmentary retinopathy, Optic atrophy OMIM:234200
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Synophrys, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryp... ORPHA:3063
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Familial Mediterranean Fever
Renal amyloidosis, Amyloidosis OMIM:249100
Steinert Myotonic Dystrophy
Decreased fertility, Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation... ORPHA:273
Alström Syndrome
Cone/cone-rod dystrophy, Oligospermia, Frontal balding, Hirsutism, Decreased circulating T4 conce... ORPHA:64
Q Fever
Amyloidosis ORPHA:781
Turner Syndrome Due To Structural X Chromosome Anomalies
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... ORPHA:99413
Turner Syndrome
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... ORPHA:881
Mosaic Monosomy X
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... ORPHA:99228
Monosomy X
Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... ORPHA:99226
Primary Sclerosing Cholangitis
Amyloidosis ORPHA:171

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 Pin1

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 Pin1.

No publications found that use IMPC mice or data for Pin1.

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MGI Allele Allele Type Produced
Pin1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pin1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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