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
increased mean corpuscular hemoglobin Rbp4tm1.1(KOMP)Vlcg HOM Early adult 9.74×10-06
persistence of hyaloid vascular system Rbp4tm1.1(KOMP)Vlcg HOM Early adult 5.79×10-16
eye hemorrhage Rbp4tm1.1(KOMP)Vlcg HOM Early adult 9.87×10-05

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
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

26 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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 Hind Leg and Hip

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, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Peripheral retinal a... OMIM:615147
Microphthalmia/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
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal flecks, Macular atr... OMIM:603649
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Macular Dystrophy, Retinal, 1, North Carolina Type
Macular dystrophy, Drusen, Dyschromatopsia, Central scotoma, Abnormality of macular pigmentation,... OMIM:136550
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Choroideremia, Visual field defect, Metamorpho... ORPHA:1243
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Dyschromatopsia, Central scotoma, Reduced visual ... OMIM:608051
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Late-Onset Retinal Degeneration
Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma... OMIM:605670
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Macular dystrophy, Abnormal fundus autofluorescence imaging, V... ORPHA:59181
Macular Degeneration, Age-Related, 13
Drusen, Choroidal neovascularization, Macular degeneration, Macular scar, Progressive visual loss OMIM:615439
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Central Areolar Choroidal Dystrophy
Visual loss, Drusen, Full-thickness macular hole, Dyschromatopsia, Absent retinal pigment epithel... ORPHA:75377
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:616544
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Retinal Cone Dystrophy 1
Color vision defect, Photophobia, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degene... OMIM:180020
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Peripheral cystoid retinal degeneration, Retinal pigment epi... OMIM:312700
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Bothnia Retinal Dystrophy
Large central visual field defect, Color vision defect, Central scotoma, Increased OCT-measured f... ORPHA:85128
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Macular Degeneration, Early-Onset
Macular degeneration, Reduced visual acuity, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Vitelliform, 3
Color vision defect, Macular dystrophy, Drusen, Choroidal neovascularization, Photophobia, Vitell... OMIM:608161
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal ... OMIM:605750
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Stargardt Disease
Retinal thinning, Color vision defect, Central scotoma, Macular degeneration, Photopsia, Abnormal... ORPHA:827
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Arcuate scotoma, Retinal thinning, Visual loss, Choroidal neov... ORPHA:179
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Photophobia, Macular degeneration, Pericentral scotoma, Cone/cone-r... OMIM:620342
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Cone-Rod Dystrophy 22
Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ... OMIM:619531
Cone-Rod Dystrophy 5
Color vision defect, Photophobia, Central scotoma, Macular degeneration, Cone/cone-rod dystrophy,... OMIM:600977
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Myopia, Visual impairment, Chorioretinal dystrophy OMIM:600790
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Macular Dystrophy, Patterned, 1
Dark choroid, Macular dystrophy, Pattern dystrophy of the retina, Choroidal neovascularization, P... OMIM:169150
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Retinitis Pigmentosa 70
Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse... OMIM:615922
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Retinal nonattachment, Choroideremia, Visual field de... ORPHA:99000
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Bietti Crystalline Dystrophy
Large central visual field defect, Constriction of peripheral visual field, Color vision defect, ... ORPHA:41751
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Optic Atrophy 6
Optic atrophy, Photophobia, Red-green dyschromatopsia, Retinal degeneration, Visual impairment OMIM:258500
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cone-Rod Dystrophy 13
Color vision defect, Photophobia, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual a... OMIM:608194
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Paracentral scotoma, Pericentral scotoma, Cone/co... OMIM:609021
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Retinitis Pigmentosa 11
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular degener... OMIM:600138
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Visual field defect, Reduced visual acu... OMIM:615725
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Exudative Vitreoretinopathy 5
Retinal exudate, Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuit... OMIM:613310
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor, Visual impairment OMIM:618513
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Photophobia, Hypoautofluorescent macular lesion, Reduced visual acuity, Reti... OMIM:304020
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Retinal flecks, ... OMIM:613194
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig... OMIM:300476
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal... OMIM:613660
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Wagner Vitreoretinopathy
Optic atrophy, Visual loss, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitr... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Newfoundland Rod-Cone Dystrophy
Color vision defect, Bone spicule pigmentation of the retina, Scotoma, Retinal dystrophy, Central... OMIM:607476
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Irvan Syndrome
Optic atrophy, Photophobia, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional re... ORPHA:209943
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Retinitis Pigmentosa 38
Constriction of peripheral visual field, Progressive visual loss, Rod-cone dystrophy, Peripheral ... OMIM:613862
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Myopia, Progressive visual loss, Visu... ORPHA:180
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Cone-Rod Dystrophy 11
Photophobia, Macular degeneration, Slow decrease in visual acuity, Bull's eye maculopathy, Cone/c... OMIM:610381
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Optic disc pall... OMIM:601718
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Optic Atrophy 5
Constriction of peripheral visual field, Optic atrophy, Tritanomaly, Abnormality of pattern visua... OMIM:610708
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Dyschromatopsia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, My... OMIM:264420
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Cone-Rod Dystrophy 2
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:120970
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at... OMIM:613835
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... ORPHA:231401
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Thrombocytopenia,... ORPHA:88
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal... OMIM:193235
Retinitis Pigmentosa 3
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:300029
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Congenital Glaucoma
Retinal detachment ORPHA:98976
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Cystoid macular degeneration, Hypermetropia, Retinal deg... OMIM:267760
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Macular drusen, Reduce... OMIM:608850
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Retinal detachment, Peripheral vitreoretinal degeneration, Mildly reduced visual acu... OMIM:614292
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Marcus Gunn pupil, Visual field defect, Reduced visual acuity, Reti... ORPHA:284454
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... OMIM:312600
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Exudative Vitreoretinopathy 2, X-Linked
High myopia, Retinal detachment, Retinal fold, Intraretinal exudate, Reduced visual acuity, Perip... OMIM:305390
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... ORPHA:79435
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... OMIM:618173
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta... ORPHA:816
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Color vision defect, Photophobia, Mild myopia, Attenuati... OMIM:300424
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Laurence-Moon Syndrome
Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
High myopia, Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener... OMIM:618195
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Optic disc pall... OMIM:613983
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Waardenburg-Shah Syndrome
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor... ORPHA:897
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Retinitis Punctata Albescens
Photophobia, Central scotoma, Yellow/white lesions of the retina, Progressive night blindness, Cy... ORPHA:52427
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Reduced visual acu... OMIM:601813
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal bleeding, Abnormal hemoglobin ORPHA:90042
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Tractional re... ORPHA:91495
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Peripheral retinal a... OMIM:615147
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Myopia 28, Autosomal Recessive
High myopia, Retinal detachment OMIM:619781
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormal spleen morphology, Thrombocytopenia, Spl... ORPHA:464329
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Progressive night blindness, Chorioretinal ... OMIM:210370
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Oculocutaneous Albinism Type 2
Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp... ORPHA:79432
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis OMIM:268100
Spermatogenic Failure 14
Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula... OMIM:615842
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Dyschromatopsia, Macular degeneration, Hemeralopia, Retinal atrophy, Visual impairment OMIM:617236
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina... ORPHA:5
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:615233
Leber Congenital Amaurosis 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral... OMIM:613843
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Eales Disease
Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Rhegmatogenous... ORPHA:40923
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... ORPHA:99827
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Anemia, Reticulocytosis, Hepatos... ORPHA:846
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina ORPHA:100996
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Leukopenia, Subco... ORPHA:319213
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Anemia, Melena, Petechiae, Capillary leak, Hypertension, Leukocytosis, Hypotension, ... ORPHA:340
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti... OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis, Decreased mean platelet volume, Vasculitis in the skin, Thrombocytopen... OMIM:617718
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Retinitis Pigmentosa 97
Macular degeneration, Reduced visual acuity, Rod-cone dystrophy, Amblyopia, Nyctalopia OMIM:620422
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Coloboma Of Optic Nerve