Gene Summary

Name:
retinol binding protein 4, plasma
Synonyms:
retinol binding protein 4, cellular,  Rbp-4

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
eye hemorrhage Rbp4tm1.1(KOMP)Vlcg HOM   Early adult 2.00×10-07
increased mean corpuscular hemoglobin Rbp4tm1.1(KOMP)Vlcg HOM Early adult 1.05×10-05
persistence of hyaloid vascular system Rbp4tm1.1(KOMP)Vlcg HOM Early adult 5.66×10-16

Download data as:  TSV  XLS

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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
Aorta  Wholemount images heterozygote 50% (2 of 4)
Brain  Wholemount images heterozygote 75% (3 of 4)
Brown adipose tissue  Section images heterozygote 25% (1 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images heterozygote 50% (2 of 4)
Chest bone  Wholemount images heterozygote 25% (1 of 4)
Colon  Wholemount images  Section images heterozygote 75% (3 of 4)
Diaphragm  Wholemount images heterozygote 50% (2 of 4)
Duodenum  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images heterozygote 50% (2 of 4)
Eye  Wholemount images heterozygote 50% (2 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Gonadal fat pad  Wholemount images heterozygote 50% (2 of 4)
Harderian gland  Wholemount images heterozygote 50% (2 of 4)
Ileum  Wholemount images  Section images heterozygote 75% (3 of 4)
Jejunum  Wholemount images heterozygote 50% (2 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Liver  Wholemount images  Section images heterozygote 100% (4 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Mesenteric adipose tissue  Wholemount images heterozygote 50% (2 of 4)
Mesenteric lymph node  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images heterozygote 50% (2 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote 25% (1 of 4)
Pancreas  Wholemount images heterozygote 50% (2 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Skin  Wholemount images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images heterozygote 50% (2 of 4)
Spleen  Wholemount images heterozygote 50% (2 of 4)
Stomach  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 50% (2 of 4)
Tongue  Wholemount images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images heterozygote 25% (1 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 75% (3 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 75% (3 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cecum 5.88% (22 of 374)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
chest bone Unavailable
colon 15.44% (21 of 136)
diaphragm 0.0%
duodenum 2.99% (4 of 134)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.73% (1 of 137)
heart 0.35% (2 of 571)
hindlimb 0.0%
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
ileum 14.71% (20 of 136)
jejunum 8.82% (12 of 136)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.32% (1 of 312)
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
stomach pyloric region 0.0%
striatum 0.52% (3 of 582)
sublingual gland 0.0%
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
tongue 3.62% (5 of 138)
trachea 0.34% (2 of 589)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vagina 0.0%
vas deferens 4.45% (17 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

45 Images

Adult LacZ

LacZ Images Section

26 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Rbp4 mutations

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

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

The table below shows human diseases associated to Rbp4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Peripheral retinal atrophy, Reduced visual acuity, Nyctalopia, Absent foveal reflex,... OMIM:615147
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Optic pit OMIM:616428

The table below shows human diseases predicted to be associated to Rbp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Stargardt Disease
Color vision defect, Aplasia/Hypoplasia of the macula, Central scotoma, Retinal pigment epithelia... ORPHA:827
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Macular Dystrophy, Retinal, 2
Granular macular appearance, Central scotoma, Reduced visual acuity, Dyschromatopsia, Macular dys... OMIM:608051
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Best Vitelliform Macular Dystrophy
Color vision defect, Visual field defect, Cystoid macular degeneration, Metamorphopsia, Choroider... ORPHA:1243
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
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 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Macular Dystrophy, Retinal, 1, North Carolina Type
Central scotoma, Peripheral retinal atrophy, Abnormality of macular pigmentation, Reduced visual ... OMIM:136550
Late-Onset Retinal Degeneration
Sub-RPE deposits, Adult-onset night blindness, Choroidal neovascularization, Visual loss, Retinal... OMIM:605670
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Progressive visual loss, Drusen, Choroidal neovascularization OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Optic Atrophy 5
Tritanomaly, Constriction of peripheral visual field, Central scotoma, Optic disc pallor, Abnorma... OMIM:610708
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Blindness, Hyporeflective spaces on macular OCT, Retina... ORPHA:59181
Macular Dystrophy, Retinal, 3
Color vision defect, Central scotoma, Macular drusen, Reduced visual acuity, Retinal pigment epit... OMIM:608850
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Choroideremia
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... OMIM:303100
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... ORPHA:97341
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal bleeding, Splenomegaly ORPHA:231393
Retinitis Pigmentosa 73
Color vision defect, Blurred vision, Peripapillary atrophy, Constriction of peripheral visual fie... OMIM:616544
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Macular Degeneration, Early-Onset
Reduced visual acuity, Macular degeneration, Choroidal neovascularization OMIM:616118
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Color vision defect, Vitelliform-like macular lesions, Visual impairment, Metamo... OMIM:608161
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Bothnia Retinal Dystrophy
Paracentral scotoma, Color vision defect, Visual field defect, Central scotoma, Pigmentary retino... ORPHA:85128
Retinal Cone Dystrophy 1
Color vision defect, Cone/cone-rod dystrophy, Progressive visual loss, Retinal degeneration, Phot... OMIM:180020
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Reduced visual acuity, Exudative vitreoretinopathy, Retinal ... OMIM:605750
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Birdshot Chorioretinopathy
Vitreous floaters, Blurred vision, Abnormal retinal vascular morphology, Epiretinal membrane, Bli... ORPHA:179
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cone-Rod Dystrophy 5
Color vision defect, Central scotoma, Cone/cone-rod dystrophy, Retinal pigment epithelial mottlin... OMIM:600977
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Visual impairment, Retinal detachment, Myopia, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Macular Dystrophy, Patterned, 1
Pattern dystrophy of the retina, Metamorphopsia, Reduced visual acuity, Yellow/white lesions of t... OMIM:169150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Retinitis Pigmentosa 70
Constriction of peripheral visual field, Macular degeneration, Optic disc pallor, Retinal degener... OMIM:615922
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Color vision defect, Vitelliform-like macular lesions, Abnormality of vision... ORPHA:99000
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity, Macular degeneration OMIM:300834
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Reduced visual acuity, Perifoveal ring of hyperautofluoresce... OMIM:619531
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Bietti Crystalline Dystrophy
Blindness, Color vision defect, Paracentral scotoma, Constriction of peripheral visual field, Cen... ORPHA:41751
Peripheral Cone Dystrophy
Paracentral scotoma, Visual impairment, Cone/cone-rod dystrophy, Pericentral scotoma, Optic disc ... OMIM:609021
Retinitis Pigmentosa 11
Blindness, Macular atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, Macular ... OMIM:600138
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Cone-Rod Dystrophy 13
Color vision defect, Visual impairment, Cone/cone-rod dystrophy, Macular degeneration, Reduced vi... OMIM:608194
Exudative Vitreoretinopathy 5
Retinal exudate, Tractional retinal detachment, Falciform retinal fold, Exudative vitreoretinopat... OMIM:613310
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Leber Congenital Amaurosis 19
Visual impairment, Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Retinitis Pigmentosa 76
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... OMIM:617123
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Myopia, Retinal pigment epithelial mottling, Hypoautofluorescent macular les... OMIM:304020
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Progressive visual loss, Nyctalopia... OMIM:613660
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Wagner Vitreoretinopathy
Visual field defect, Optically empty vitreous, Vitreoretinopathy, Myopia, Peripheral tractional r... OMIM:143200
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Central scotoma, Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic ... OMIM:300476
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Retinal Dystrophy And Obesity
Peripapillary atrophy, Myopia, Retinal detachment, Reduced visual acuity, Retinal dots, Attenuati... OMIM:616188
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Irvan Syndrome
Vitreous floaters, Blurred vision, Retinal exudate, Retinal detachment, Tractional retinal detach... ORPHA:209943
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 38
Macular atrophy, Constriction of peripheral visual field, Peripheral retinal atrophy, Optic disc ... OMIM:613862
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina OMIM:172870
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Reduced visual acuity, Nyctalopia, Attenuation of retinal ... OMIM:613194
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati... OMIM:251270
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Macular degeneration, Photophobia, Slow decrease in vis... OMIM:610381
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 28
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:606068
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Optic disc pallor, Reduced visual acuity, Bone spicule p... OMIM:601718
Choroideremia
Visual impairment, Abnormality of vision, Progressive visual loss, Abnormality of retinal pigment... ORPHA:180
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Progressive vi... OMIM:603075
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Optic disc ... OMIM:618195
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Optic Atrophy 1
Tritanomaly, Central scotoma, Centrocecal scotoma, Visual impairment, Abnormal amplitude of patte... OMIM:165500
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... OMIM:618697
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... OMIM:611040
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Progressive visual loss, Peripheral retinal degeneration, Myopia, Dyschr... OMIM:264420
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:616108
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204100
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Cone-Rod Dystrophy 2
Blindness, Color vision defect, Constriction of peripheral visual field, Central scotoma, Cone/co... OMIM:120970
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Abnormal bleeding, Thrombocytopenia, ... ORPHA:231401
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... OMIM:613835
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:180100
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinitis Pigmentosa 3
Color vision defect, Perifoveal hypoautofluorescence, High myopia, Constriction of peripheral vis... OMIM:300029
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Posterior retinal... OMIM:193235
Congenital Glaucoma
Retinal detachment ORPHA:98976
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation ORPHA:35737
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Constriction of peripheral visual field, Hypermetropia, Cystoid macular degenera... OMIM:267760
Optic Atrophy 8
Central scotoma, Visual impairment, Visual loss, Abnormality of pattern visual evoked potentials,... OMIM:616648
Retinitis Pigmentosa 86
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:618613
Myopia, High, With Cataract And Vitreoretinal Degeneration
Vitreous floaters, Peripheral vitreoretinal degeneration, Mildly reduced visual acuity, Retinal d... OMIM:614292
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Idiopathic Aplastic Anemia
Retinal hemorrhage, Gingival bleeding, Anemia, Reticulocytopenia, Ecchymosis, Thrombocytopenia, P... ORPHA:88
Retinitis Pigmentosa 2
Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Chorioretinal... OMIM:312600
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... OMIM:612095
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... OMIM:604116
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:600105
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Acute Zonal Occult Outer Retinopathy
Constriction of peripheral visual field, Macular drusen, Abnormal retinal vascular morphology, Pi... ORPHA:284454
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation ORPHA:2196
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Retinal atrophy, Cystoid macular edema, Reduced visual a... OMIM:617304
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Leber Congenital Amaurosis 1
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels OMIM:204000
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... OMIM:145350
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... ORPHA:79435
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Retinitis Pigmentosa 58
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613617
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spermatogenic Failure 77
Cryptorchidism, Elevated circulating follicle stimulating hormone level, Azoospermia, Multiflagel... OMIM:620103
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... OMIM:605549
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Blindness, Retinal exudate, Retinal detac... OMIM:133780
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa 23
Color vision defect, Constriction of peripheral visual field, Severely reduced visual acuity, Att... OMIM:300424
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Jalili Syndrome
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... OMIM:217080
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Heterochromia iridis, Abnormality of retinal pigmentation ORPHA:1390
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:613756
Myopia 3, Autosomal Dominant
Retinal detachment, High myopia OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment, High myopia OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment, High myopia OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment, High myopia OMIM:608474
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Optic disc pallor, Reduced visual acuity, Bone spicule p... OMIM:613983
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613810
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Blindness... ORPHA:891
Canavan Disease
Blindness, Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked p... ORPHA:141
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Retinitis Pigmentosa 25
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:602772
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Aganglionic megacolon, Abnormality of ret... ORPHA:897
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Heimler Syndrome 1
Retinal pigment epithelial mottling, Macular dystrophy OMIM:234580
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Blindness, Retinal exudate, Tractional retinal detachment, F... OMIM:601813
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris coloboma, Posterior lenticonus ORPHA:231736
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Retinitis Punctata Albescens
Macular atrophy, Central scotoma, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentar... ORPHA:52427
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Peripheral retinal atrophy, Reduced visual acuity, Nyctalopia, Absent foveal reflex,... OMIM:615147
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:791
Exudative Vitreoretinopathy 6
Retinal exudate, Retinal detachment, Tractional retinal detachment, Progressive visual loss, Patc... OMIM:616468
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Remnants of the hyaloid vascular system, Glial remnants anterior t... ORPHA:91495
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Elevated circu... OMIM:228300
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Oculocutaneous Albinism Type 1
Depigmented fundus, Hypoplasia of the fovea, Optic nerve misrouting, Amblyopia, Reduced visual ac... ORPHA:352731
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... ORPHA:79434
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation... OMIM:600132
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Myopia 28, Autosomal Recessive
Retinal detachment, High myopia OMIM:619781
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Epidural hemorrhage, Bruising susceptibility, Anemia, Abnormal spleen morphol... ORPHA:464329
Bietti Crystalline Corneoretinal Dystrophy
Paracentral scotoma, Constriction of peripheral visual field, Progressive visual loss, Retinal de... OMIM:210370
Primary Familial Polycythemia
Abnormal bleeding, Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... ORPHA:79432
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... OMIM:193220
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Spermatogenic Failure 14
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:615842
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... OMIM:616469
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration, Photophobia, Hemeralopia, Visual impairment, Dyschromatopsia OMIM:617236
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Leukocytosis, Bundle branch block, Bradycardia, Neutrophilia, Epi... ORPHA:99827
Eales Disease
Rhegmatogenous retinal detachment, Peripheral retinal neovascularization, Ischemic stroke, Optic ... ORPHA:40923
Enhanced S-Cone Syndrome
Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Autosomal Dominant Optic Atrophy Plus Syndrome
Constriction of peripheral visual field, Temporal optic disc pallor, Abnormal retinal nerve fiber... ORPHA:1215
Leber Congenital Amaurosis 15
Color vision defect, Peripapillary atrophy, Constriction of peripheral visual field, Hypermetropi... OMIM:613843
Retinitis Pigmentosa 66
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615233
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617547
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pig... ORPHA:5
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Congestive heart failure, Pericarditis, Splenomegaly ORPHA:163596
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Intracranial ... ORPHA:464321
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Yellow/white lesions of the retina, Retinal flecks ORPHA:100996
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy ORPHA:255241
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigmentation of... OMIM:609033
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Hyphema OMIM:221900
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Leukopenia, Hypotension, Lymphopenia, Ecchymosis, Purpura, Thrombocyto... ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Hypotension, Anemia, Palpitations, Intracranial hemorrhage, Hypertension, Capillary... ORPHA:340
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... OMIM:615986
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Thrombocytopenia, Lymphocytosis, Decreased ... OMIM:617718
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Neurocutaneous Melanocytosis
Numerous congenital melanocytic nevi, Abnormality of retinal pigmentation, Chorioretinal coloboma... ORPHA:2481
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Palpitations, Anemia of inade... ORPHA:86839
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... ORPHA:448237
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Progressive visual loss, Undetectable visual evoked pote... ORPHA:436245
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:601777
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment ORPHA:39044
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome