Gene Summary

Name:
homeodomain interacting protein kinase 4
Synonyms:
LOC233020

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Hipk4tm1b(KOMP)Mbp HOM Late adult 2.81×10-05
abnormal vitreous body morphology Hipk4tm1b(KOMP)Mbp HOM   Late adult 1.98×10-06
male infertility Hipk4tm1b(KOMP)Mbp HOM Early adult 0.00
fused cornea and lens Hipk4tm1b(KOMP)Mbp HOM   Late adult 1.98×10-06
abnormal retina vasculature morphology Hipk4tm1b(KOMP)Mbp HOM   Late adult 1.98×10-06
abnormal retina blood vessel morphology Hipk4tm1b(KOMP)Mbp HOM   Late adult 1.98×10-06
iris synechia Hipk4tm1b(KOMP)Mbp HOM   Late adult 2.01×10-06
cataract Hipk4tm1b(KOMP)Mbp HOM   Late adult 1.55×10-05
persistence of hyaloid vascular system Hipk4tm1b(KOMP)Mbp HOM   Late adult 7.61×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Section

10 Images

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

Auditory Brain Stem Response

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

6 Images

Human diseases caused by Hipk4 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 Hipk4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 4
Azoospermia OMIM:270960
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility OMIM:615703
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility OMIM:261550
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Young Syndrome
Azoospermia OMIM:279000
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Optic Atrophy 5
Optic atrophy OMIM:610708
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Aniridia 3
Cataract OMIM:617142
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Intermediate Uveitis
Macular scar, Band keratopathy, Optic neuritis, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size OMIM:229070
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Hypop... OMIM:614837
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Uveitis, Retinal detachment, Posterior ret... OMIM:193235
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Oligospermia, Precocious puberty OMIM:300200
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Nathalie Syndrome
Cataract ORPHA:2663
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, O... ORPHA:137902
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Trichomegaly
Cataract OMIM:190330
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Decreased testicular size, Premature ovarian insufficiency, Hypo... OMIM:612885
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Functioning Gonadotropic Adenoma
Infertility, Decreased female libido, Amenorrhea, Ovarian cyst, Enlarged polycystic ovaries, Olig... ORPHA:91348
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Cataract, Macular degeneration, Optic atrophy OMIM:204200
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility, Patent ductus arteriosus OMIM:618300
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea ORPHA:91351
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract OMIM:616469
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Optic Atrophy 6
Optic atrophy OMIM:258500
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Fundus atrophy, Abnormal suspensory ligament of lens mo... ORPHA:67042
Galactosemia Iv
Cataract OMIM:618881
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Cataract, Optic atrophy ORPHA:329314
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Kennedy Disease
Erectile dysfunction, Decreased fertility, Testicular atrophy ORPHA:481
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy OMIM:608611
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
48,Xyyy Syndrome
Azoospermia, Male hypogonadism ORPHA:99329
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Amenorrhea ORPHA:1445
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... OMIM:312600
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Galactosemia Ii
Cataract OMIM:230200
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Leukodystrophy, Hypomyelinating, 13
Optic atrophy OMIM:616881
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Optic Atrophy 9
Optic atrophy OMIM:616289
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation ORPHA:3456
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligospermia, Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia,... ORPHA:786
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Retinal vascular tortuosity, Optic atrophy ORPHA:104
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Camos Syndrome
Optic atrophy ORPHA:83472
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Periventricular Nodular Heterotopia 7
Optic atrophy OMIM:617201
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Developmental And Epileptic Encephalopathy 58