Gene Summary

katanin p60 subunit A-like 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Katnal1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal retinal vasculature morphology Katnal1em1(IMPC)Tcp HET Early adult 3.19×10-05
abnormal spleen morphology Katnal1em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Katnal1em1(IMPC)Tcp HET Early adult 0.00
cataract Katnal1em1(IMPC)Tcp HET   Early adult 3.51×10-05
abnormal skin morphology Katnal1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retinal blood vessel morphology Katnal1em1(IMPC)Tcp HET Early adult 4.49×10-05
pallor Katnal1em1(IMPC)Tcp HOM E18.5 0.00
abnormal lens morphology Katnal1em1(IMPC)Tcp HET Early adult 1.39×10-05
enlarged kidney Katnal1em1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Katnal1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Katnal1em1(IMPC)Tcp HET Early adult 0.00

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Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection


11 Images


XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

108 Images

Eye Morphology

Images Slit Lamp

102 Images


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Skull Dorso Ventral Orientation

11 Images


XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Katnal1 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 Katnal1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Retinitis Pigmentosa 81
Pallor OMIM:617871
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Retinitis Pigmentosa 42
Pallor OMIM:612943
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
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 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 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Retinitis Pigmentosa 60
Pallor OMIM:613983
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism, Congenital adrenal hypoplasia OMIM:202150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Bardet-Biedl Syndrome 18
Retinal dystrophy, Renal insufficiency, Cataract, Rod-cone dystrophy OMIM:615995
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Micropenis, Cataract OMIM:610156
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Breath-Holding Spells
Pallor OMIM:607578
Optic Atrophy 9
Pallor OMIM:616289
Aniridia 3
Cataract OMIM:617142
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Morm Syndrome
Retinal dystrophy, Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy ORPHA:75858
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Retinitis Pigmentosa 70
Pallor OMIM:615922
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Retinitis Pigmentosa 73
Pallor OMIM:616544
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Galactosemia Ii
Galactosuria, Cataract OMIM:230200
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Nathalie Syndrome
Cataract ORPHA:2663
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Cataract OMIM:190330
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... ORPHA:753
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Retinal Venous Beading
Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunct... OMIM:180080
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Young Syndrome
Azoospermia OMIM:279000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Hematuria, Iris coloboma, Retinal d... ORPHA:1473
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Nephronophthisis, Stage 5 chronic kidney ... ORPHA:3156
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract OMIM:607906
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Polycystic kidney dysplasia, Cataract OMIM:263100
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Galactosemia Iv
Cataract OMIM:618881
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Hypogonadism-Cataract Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona... OMIM:240950
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Morning glory anomaly, Macular hyperpigmen... OMIM:120330
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614880
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Prote... ORPHA:85445
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus OMIM:204000
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... OMIM:264300
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... OMIM:193220
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Retinitis Pigmentosa 27
Pallor OMIM:613750
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Cataract, Splenomegaly ORPHA:79238
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... OMIM:310600
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kidney dysplasia,... OMIM:263200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Optic Atrophy 1
Pallor OMIM:165500
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Pallor, Purpura OMIM:254450
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Cataract, Ectopic kidney, Abnormality of the kidney OMIM:613730
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Maternally-Inherited Diabetes And Deafness
Macular dystrophy, Proteinuria, Cataract, Retinopathy, Glomerulopathy, Abnormal chorioretinal mor... ORPHA:225
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Asplenia, Enlarged kidney OMIM:615415
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... OMIM:604278
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia ORPHA:250923
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Retinitis Pigmentosa 75
Pallor OMIM:617023
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Rod-cone dystrophy, Macular degeneration OMIM:204200
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Aminoaciduria,... ORPHA:414
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Optic atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic... OMIM:617303
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... OMIM:608836
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... OMIM:203780
Elliptocytosis 1
Pallor OMIM:611804
Hemoglobin D Disease
Pallor ORPHA:90039
Irida Syndrome
Pallor ORPHA:209981
Autosomal Dominant Polycystic Kidney Disease
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... ORPHA:730
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract OMIM:614876
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... ORPHA:67043
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Developmental cataract OMIM:613763
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Nathalie Syndrome
Cataract OMIM:255990
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy, Posterior subcapsular cataract OMIM:617304
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Macular dystrophy, Abnormal retinal morphology on macular OCT, Membranopro... ORPHA:251004
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Cataract OMIM:120433
Intermediate Uveitis
Tubulointerstitial nephritis, Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowball... ORPHA:279914
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Cataract 11, Multiple Types
Cataract OMIM:610623
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... OMIM:615986
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... OMIM:618173
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Lipemia retinalis, Decreased glomerular filtrat... OMIM:232200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:612572
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Lipemia retinalis, Decreased glomerular filtrat... OMIM:232220
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Asplenia, Renal dysplasia, Enlarged kidney, Renal insufficiency, Polycystic kidney ... OMIM:208540
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Kaposiform Lymphangiomatosis
Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphatic system, Abnormal... ORPHA:464329
Joubert Syndrome 9
Retinal dystrophy, Astigmatism, Cataract, Stage 5 chronic kidney disease OMIM:612285
Retinitis Pigmentosa 56
Pigmentary retinopathy, Nuclear cataract, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Cataract ORPHA:2571
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... ORPHA:280679
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Urinary incontinence, Cataract OMIM:270800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility ORPHA:85450
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... ORPHA:79239
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Astigmatism, Retinal detachment, Cataract ORPHA:250984
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
H Syndrome
Corneal arcus, Lymphadenopathy, Micropenis, Hepatosplenomegaly, Abnormality of the kidney, Enlarg... ORPHA:168569
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Retinal atrophy OMIM:616722
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Heavy proteinuria, Nephrotic syndrome, Bone m... ORPHA:505248
Uveal Melanoma
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... ORPHA:39044
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract ORPHA:570422
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Retinal coloboma, Bifid ureter, Multicystic kidney dysplasia, Cataract, Astigm... ORPHA:500095
Retinitis Pigmentosa 51
Pallor OMIM:613464
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Linear Verrucous Nevus Syndrome
Iris coloboma, Cataract, Retinopathy, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea... ORPHA:2611
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Re... ORPHA:330015
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Splenomegaly, ... ORPHA:290
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Peroxisome Biogenesis Disorder 10B
Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Senior-Loken Syndrome 8
Pallor OMIM:616307
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Tubulointerstitial nephritis, Urinary bladder inflammation,... ORPHA:449395
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Refsum Disease, Classic
Retinal degeneration, Abnormal renal physiology, Cardiomegaly, Rod-cone dystrophy, Cataract OMIM:266500
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... OMIM:612109
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney dise... OMIM:614376
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Renal... OMIM:276700
Proximal Myotonic Myopathy
Cataract ORPHA:606
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:609033
Leiomyomatosis, Diffuse, With Alport Syndrome
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... OMIM:308940
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Pallor, Skin ulcer ORPHA:848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Retinal detachment, Corneal opacity, Cataract OMIM:613153
Neuraminidase Deficiency
Hepatomegaly, Cherry red spot of the macula, Urinary excretion of sialylated oligosaccharides, Ca... OMIM:256550
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Aniridia 2
Aniridia, Cataract OMIM:617141
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... OMIM:106210
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Polysplenia, Enlarged kidney OMIM:200995
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Pellagra-Like Syndrome
Cataract OMIM:260650
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:90653
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney OMIM:612651
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... ORPHA:280921
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Renal hypoplasia, Hydronephrosis, Cataract, Aminoaciduria OMIM:617913
Cold Agglutinin Disease
Pallor ORPHA:56425
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney ORPHA:276280
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Pallor, Skin ulcer ORPHA:507
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Brushfield spots, Renal cyst, Splenomegaly, Hepatosplenomegaly, Cataract, Renal cor... OMIM:614866
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Retinal detachment, Cataract, Lens subluxation ORPHA:93296
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Corneal opacity, ... ORPHA:93399
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Primary Myelofibrosis
Ecchymosis, Pallor, Purpura, Petechiae ORPHA:824
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Mucopolysacchariduria, Hepatomegaly, Splenome... ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Cataract OMIM:615181
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Sclerocornea, Optic nerve hypoplasia, Peters anomaly,... OMIM:243605
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hepatomegaly, Hypoplasia of the fovea, Cherry red spot of ... ORPHA:93400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:2715
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Renal insufficiency, Cataract, Nephropathy OMIM:247410
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Knobloch Syndrome
Ectopia lentis, Vitreoretinopathy, Lymphangioma, Bifid ureter, Macular degeneration, Abnormal vit... ORPHA:1571
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Autosomal Recessive Polycystic Kidney Disease
Stage 5 chronic kidney disease, Splenomegaly, Recurrent urinary tract infections, Hypersplenism, ... ORPHA:731
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Hypoplasia of the thymus, Brushfield spots, Polycystic kidney dysplasia, Cataract, ... OMIM:214110
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Nephrolithiasis, Enlarged kid... OMIM:130650
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea ORPHA:139471
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Micropenis, Cataract, Microcornea OMIM:610125
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism OMIM:222300
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Choroideremia, Congenital megaureter, Cardiomegaly, Nephrolit... ORPHA:116
Tay-Sachs Disease
Pallor OMIM:272800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Cataract, Splenomegaly OMIM:608885
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... ORPHA:2969
Hereditary Leiomyomatosis And Renal Cell Cancer
Papillary renal cell carcinoma type 2, Cataract ORPHA:523
Hepatomegaly, Hydronephrosis, Abnormal renal artery morphology, Hypoplasia of the bladder, Ureter... ORPHA:79328
Dravet Syndrome
Pallor ORPHA:33069
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Cataract ORPHA:309288
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Retinal dysplasia, Retinal dystrophy, Chorioretina... ORPHA:899
Hereditary Mucoepithelial Dysplasia
Hematuria, Cataract, Corneal dystrophy, Abnormality of the bladder ORPHA:1839
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Werner Syndrome
Retinal degeneration, Cataract OMIM:277700
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... ORPHA:227
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:305400
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Non-acidotic proximal tubulopathy, Reti... OMIM:222448