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Gene: Rbp1 MGI:97876

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Gene Summary

Name:
retinol binding protein 1, cellular
Synonyms:
Crbp,  CRBPI,  Rbp-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Rbp1tm2b(EUCOMM)Hmgu HOM Early adult 9.56×10-06
decreased fasting circulating glucose level Rbp1tm2b(EUCOMM)Hmgu HOM   Early adult 6.51×10-05
decreased fasting circulating glucose level Rbp1tm2b(EUCOMM)Hmgu HOM Late adult 1.78×10-05

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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
Parathyroid gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

72 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Adult LacZ

LacZ Images Wholemount

2 Images

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Human diseases caused by Rbp1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Rbp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to g... OMIM:275400
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Acanthocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Dec... ORPHA:96180
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... OMIM:618889
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly OMIM:609016
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormal circulating vitamin A concentration, Hepatitis, Cholestasis, Acute hepatic steatosis, Ch... ORPHA:209902
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Pigmentary r... ORPHA:3363
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Reduced glutathione synthetase level, Hemolytic anemia, Neutropenia OMIM:266130
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Short stature, Retinal dyst... ORPHA:3156
Abetalipoproteinemia
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Reticulocytosis... ORPHA:14
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Intrauterine growth retardation, Mic... OMIM:613861
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Congenital Toxoplasmosis
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopeni... ORPHA:858
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Sh... OMIM:251270
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Diffuse hepat... OMIM:264470
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... OMIM:301045
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Moderately short stature, Central retinal vessel vascular to... ORPHA:506353
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Cofs Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Hypogonadism, Intrauterine gro... ORPHA:1466
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Short stature, Cryptorchidis... ORPHA:3085
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Pigmentary retinopathy OMIM:617613
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, A... ORPHA:79239
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Elevated total serum tryptase, Spotty hyperpigmentation, Abnormal vi... ORPHA:157991
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Short stature OMIM:619090
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Leber Congenital Amaurosis 1
Hepatomegaly, Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, Attenuatio... OMIM:204000
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Chylomicron Retention Disease
Elevated hepatic transaminase, Acanthocytosis, Growth delay, Abnormality of vitamin metabolism, R... ORPHA:71
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... OMIM:616108
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Short stature, Abnormality of retinal pigmentation ORPHA:2515
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Pancreatic Triacylglycerol Lipase Deficiency
Decreased circulating vitamin E concentration, Growth delay, Reduced circulating vitamin A concen... ORPHA:309031
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Hypobetalipoproteinemia, Familial, 1
Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Decreased circulat... OMIM:615558
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Abnormality of the liver, Rod-cone dystrophy, Hypergonadotropic hypogonadism OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Short stature, Hypergonadotropic hypogonadism, Secondary amenorrhe... OMIM:268020
Laurence-Moon Syndrome
Small scrotum, Short stature, Chorioretinal atrophy, Pigmentary retinopathy, Micropenis OMIM:245800
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Formiminoglutamic Aciduria
Abnormal circulating enzyme concentration or activity, Megaloblastic anemia, Abnormality of folat... ORPHA:51208
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva... OMIM:614480
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Short stature, Splenomegaly, Jaundice, Thrombo... ORPHA:290
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Hypercholanemia, Familial, 2
Low levels of vitamin D, Prolonged neonatal jaundice OMIM:619256
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Diamond-Blackfan Anemia 9
Growth delay, Low levels of vitamin D, Anemia OMIM:613308
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Anemia, Hypogona... OMIM:613313
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Anemia, Impotence, Cirrhosis, Neutr... OMIM:604250
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Micropenis, Facial palsy, Pigmentary retinopathy ORPHA:370968
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Macular degene... ORPHA:816
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol, Retinal detachment, Short stature, Isosexual precocious puberty, Abnormal v... ORPHA:2788
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Short stature, Hypogonadotropic hypogonadism, Supernumerary ... ORPHA:1173
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration ORPHA:352641
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Short stature, Retinal dystrophy, Aplastic anemia, Pancreat... OMIM:617052
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Ring Chromosome 14 Syndrome
Growth delay, Pigmentary retinopathy OMIM:616606
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplas... ORPHA:2510
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy, Short stature ORPHA:44
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... ORPHA:54251
Bardet-Biedl Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the ova... ORPHA:110
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Low levels of vitamin B1, Abnormal spermatogenesis, Delayed puber... ORPHA:90646
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Intrinsic Factor Deficiency
Vitamin B12 deficiency, Increased circulating lactate dehydrogenase concentration, Increased RBC ... OMIM:261000
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Jeune Syndrome
Abnormality of retinal pigmentation, Abnormality of the liver, Short stature ORPHA:474
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Decreased methionine synthase activity, Cryptorchidism, Decreased adenosy... OMIM:614857
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Decreased circulating calcifed... OMIM:214950
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 level OMIM:115430
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Narp Syndrome
Optic disc pallor, Short stature, Retinal arteriolar tortuosity, Retinal pigment epithelial mottl... ORPHA:644
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... OMIM:214110
Chromosome Xp11.3 Deletion Syndrome
Short stature, Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenua... OMIM:300578
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Growth delay, Pigmentary retinopathy, ... OMIM:222300
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Chorioretin... ORPHA:5
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Micropenis, Facial palsy, Pigmentary retinopathy OMIM:613156
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Vitamin D-Dependent Rickets, Type 3
Growth delay, Elevated circulating alkaline phosphatase concentration, Low serum calcitriol, Decr... OMIM:619073
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Short stature, Cryptorchidism, Low alkaline phosphatase, Abnormality of visual... ORPHA:314389
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia OMIM:600151
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Imerslund-Grasbeck Syndrome 1
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration, Megalo... OMIM:261100
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Vitamin B12 deficiency, Macrocytic anemia, Short stature, Postnata... OMIM:212750
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Abnormal blood folate concentration, ... OMIM:613839
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration... ORPHA:48818
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Abnormality of vita... ORPHA:541423
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Lead Poisoning
Decreased female libido, Abnormality of the autonomic nervous system, Abnormality of the menstrua... ORPHA:330015
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pigmentary retinopath... OMIM:600462
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short stature, Bull's eye macul... OMIM:216550
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal opt... ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Growth delay, Abnormality of vitamin metabolism, Decreased proportion of CD3... ORPHA:90362
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Vaginal atr... OMIM:605231
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Supernumer... ORPHA:1433
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Short stature, Reduced circulating prolactin concentration, Decrea... ORPHA:2235
Mulibrey Nanism
Hepatomegaly, Short stature, Growth delay, Pigmentary retinopathy, Intrauterine growth retardation OMIM:253250
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Short stature, Macular coloboma, Undetectable visual evoked... ORPHA:423479
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi... OMIM:617780
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy, Short stature OMIM:252011
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Neutropenia, Short stature, Exocrine pancreatic insufficiency OMIM:618752
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Melanocytic nevus ORPHA:2801
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospad... OMIM:614866
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Hypermelanotic ... ORPHA:90321
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Growth... ORPHA:300298
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Short stature, Retinal fold OMIM:108145
Cln3 Disease
Pigmentary retinopathy, Vacuolated lymphocytes, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Short stature, Cryptorchidism, Opti... ORPHA:193
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D, Elevated circulating alanine aminotransferase concentration, Elevated ci... OMIM:617308
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1, Postural hypotension with compensatory tachycardia, Short stature, Abno... ORPHA:369873
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration, Abnormal circulating enzyme conc... ORPHA:79264
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Abnormality of retinal pigmentation ORPHA:122
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Irregular menstruation, Rod-cone dystrophy, Retinal dege... OMIM:615986
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... OMIM:619644
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Short stature, Splenomegaly, Optic atrophy, Ab... ORPHA:585
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Vitamin B12 deficiency, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, A... ORPHA:35858
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... OMIM:617547
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Short stature OMIM:619059
Alstrom Syndrome
Cone/cone-rod dystrophy, Hepatomegaly, Elevated hepatic transaminase, Chronic active hepatitis, H... OMIM:203800
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Decreased methionine synthase activity, Megaloblastic anemia, Decreased a... OMIM:277400
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Secondary Short Bowel Syndrome
Growth delay, Abnormality of vitamin metabolism, Aganglionic megacolon, Cholestasis ORPHA:95427
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Hepatocellular necrosis OMIM:256000
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Papilledema, Severe short stature, Short stature, Hepatomega... OMIM:309900
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Low serum calcitriol, Macrocytic anemia, Elevat... ORPHA:398063
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Hepatomegaly, Optic atrophy ORPHA:2971
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Hypogonadism, ... OMIM:615994
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Intrauterine growth retardation, Optic atrophy, Short stature, Abnormality of retinal pigmentation ORPHA:2518
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Pernicious Anemia
Malabsorption of Vitamin B12, Megaloblastic anemia OMIM:170900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatiti... OMIM:240300
Werner Syndrome
Abnormality of retinal pigmentation, Short stature, Decreased fertility, Secondary amenorrhea, Ov... ORPHA:902
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Warburg Micro Syndrome 2
Small scrotum, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Hypoplastic labia maj... OMIM:614225
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Ruvalcaba Syndrome
Cryptorchidism, Hypopigmented skin patches, Delayed puberty, Abnormality of visual evoked potenti... ORPHA:3121
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Hepatic necros... ORPHA:71212
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Optic atrophy, He... ORPHA:79330
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Decreased liver function, Diffuse hepatic st... ORPHA:436271
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Severe short stature, Pigmentary retinopathy, Proportionate shor... ORPHA:3208
Vici Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Hypopigmentation of the skin, ... ORPHA:1493
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentration, Lo... ORPHA:89937
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Megaloblastic Anemia, Folate-Responsive
Vitamin B12 deficiency, Folate-responsive megaloblastic anemia, Schistocytosis, Hypersegmentation... OMIM:601775
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Jaundice, Leukocytosis, Leukopenia... ORPHA:91547
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Pigmentary retinopathy, Elevated circulating aspartate aminotransf... OMIM:609015
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Joubert Syndrome 8
Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy, Hepatomegaly OMIM:612291
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Cockayne Syndrome A
Hepatomegaly, Retinal atrophy, Short stature, Abnormal auditory evoked potentials, Decreased nerv... OMIM:216400
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Short stature, Abnormal retinal vascular morphology, Optic a... ORPHA:2715
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1, Abnormal circulating enzyme concentration or activity, Retinal degenera... ORPHA:79244
Methylmalonic Acidemia With Homocystinuria Type Cblf
Vitamin B12 deficiency, Megaloblastic anemia, Decreased adenosylcobalamin, Decreased methylcobala... ORPHA:79284
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... ORPHA:485421
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Decreased adenosylcobalamin... OMIM:251100
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Low levels of vitamin K ORPHA:565899
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Decreased liver function, Increased hepatoce... OMIM:220110
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Jaundice, Optic... ORPHA:79282
Kearns-Sayre Syndrome
Hypoparathyroidism, Pigmentary retinopathy, Sideroblastic anemia, Short stature OMIM:530000
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Retinal pigment epithelial mottling OMIM:614105
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Short stature, Pancytopenia, Facia... OMIM:259720
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal... ORPHA:288
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal circulating enzyme concentration or activity, A... ORPHA:168491
Refsum Disease
Splenomegaly, Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating aspartate aminotransferase concentration, Optic atrophy, Pigmentary retinopa... OMIM:613154
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Classic Homocystinuria
Elevated hepatic transaminase, Retinal detachment, Abnormality of retinal pigmentation, Hepatomeg... ORPHA:394
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Chronic neutr... ORPHA:79259
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Decreased adenosylcobalamin... OMIM:251110
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Short stature OMIM:617102
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Congenital Disorder Of Glycosylation, Type Iit
Short stature, Pineal cyst, Iron deficiency anemia, Low levels of vitamin D, Abnormal protein O-l... OMIM:618885
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Pigmentary retinopathy, Diffuse hepatic steatosis, Chronic hepat... ORPHA:746
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Hypospadias, Brushfield spots, ... OMIM:214100
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Abnormal blood folate concen... OMIM:275350
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis ORPHA:829
Xeroderma Pigmentosum, Complementation Group B
Short stature, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogo... OMIM:610651
Prolidase Deficiency
Splenomegaly, Abnormality of retinal pigmentation, White forelock, Hepatomegaly ORPHA:742
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... OMIM:601152
Diamond-Blackfan Anemia 7
Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro... OMIM:612562
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Cockayne Syndrome
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Optic disc pallor, Severe sho... ORPHA:191
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of visual evoked potenti... ORPHA:35069
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Melanocytic nevus,... ORPHA:79430
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia... ORPHA:293173
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Cockayne Syndrome B
Hepatomegaly, Severe short stature, Abnormal auditory evoked potentials, Postnatal growth retarda... OMIM:133540
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Bilateral cryptorchidism, Retinal vascular tortuosity... OMIM:619471
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Short stature, Primary amenorrhea, Growth delay, Pigmentary retinopathy, Incre... ORPHA:502423
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Optic atrophy, Rod-con... OMIM:268315
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Cryptorchidism, Micropenis, Pigmentary retinopathy OMIM:614230
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Low serum calcitriol, Decreased circulating calcifediol concentration, Growth delay, Elevated cir... OMIM:264700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, R... ORPHA:85167
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Severe short stature, Hypospadias... ORPHA:2556
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Short stature ORPHA:1389
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Short stature ORPHA:702
Myopathy, Mitochondrial, And Ataxia
Short stature, Primary amenorrhea, Growth delay, Pigmentary retinopathy, Increased circulating pr... OMIM:617675
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Short stature ORPHA:1933
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:1824
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:2163
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen... ORPHA:88628
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Short stature, Portal hypertension, C... OMIM:613658
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Precocious pub... ORPHA:636
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Growth delay, High serum calcitriol, High serum calcifediol, Elevated circulating alkaline phosph... OMIM:241530
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... ORPHA:52368
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Reticulocytosis, Premature ovarian insufficiency, Increased B cell count, Autoimmun... ORPHA:3261
Friedreich Ataxia
Optic atrophy, Decreased pyruvate carboxylase activity, Abnormality of visual evoked potentials, ... OMIM:229300
Trisomy 18
Abnormality of retinal pigmentation, Short stature, Cryptorchidism, Growth delay, Intrauterine gr... ORPHA:3380
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Growth delay, Elevated circulating alkaline phosphatase concentration, Decreased circulating calc... OMIM:600081
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... ORPHA:206436
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, High serum calcitriol, Short stature, Elevated alkaline phosphatase of bone origin ORPHA:157215
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Low levels o... OMIM:619991
Vitamin D-Dependent Rickets, Type 2A
Growth delay, High serum calcitriol, Elevated circulating alkaline phosphatase concentration, Sec... OMIM:277440
Lowry-Wood Syndrome
Intrauterine growth retardation, Short stature, Pigmentary retinopathy OMIM:226960
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Hepatomegaly, Rhizomelia, Aganglionic megacolon, Abnormality... ORPHA:175
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Short stature, Optic atrophy, Abnormal autonomic nervous system physiolo... OMIM:231550
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Severe short stature, Retinal dystrophy,... ORPHA:2526
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration, High serum calcitriol OMIM:600785
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Short stature, Retinal pigment epit... OMIM:251260
Hypocalcemic Vitamin D-Dependent Rickets
Low serum calcitriol, Elevated alkaline phosphatase of bone origin, Short stature, Postnatal grow... ORPHA:289157
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... ORPHA:206443
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Marchiafava-Bignami Disease
Low levels of vitamin B1, Facial palsy ORPHA:221074
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro... ORPHA:157850
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level, Abnormal circulating enzyme concentration or activity ORPHA:79101
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Neoplasm of the gallbladder, A... ORPHA:309271
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Chol... ORPHA:309256
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:192
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Chol... ORPHA:309263
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Khan-Khan-Katsanis Syndrome
Short stature, Pigmentary retinopathy, Neutropenia, Intrauterine growth retardation, Lymphopenia,... OMIM:618460
Usher Syndrome
Abnormality of retinal pigmentation, Decreased fertility ORPHA:886
Infantile Nephropathic Cystinosis
Growth delay, Pigmentary retinopathy, Abnormality of vitamin D metabolism ORPHA:411629
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly, Leukope... ORPHA:505248
Melas
Hypoparathyroidism, Hypogonadotropic hypogonadism, Short stature, Optic atrophy, Pigmentary retin... ORPHA:550
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Elevated hepatic transaminase, Nodular ... ORPHA:404454
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy, Vitiligo ORPHA:480898
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Short stature, Abnormal foveal mo... ORPHA:580
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Growth delay, Abnormality of visual evoked potentials OMIM:614457
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot... ORPHA:1969
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
White-Sutton Syndrome
Short stature, Optic nerve hypoplasia, Abnormality of visual evoked potentials, Intrauterine grow... OMIM:616364
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
High serum calcitriol, Angioid streaks of the fundus OMIM:211900
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of the skin, Hypopigmentation of hair, Hepatomegaly, Short sta... OMIM:219800
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration or ac... ORPHA:217085
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis OMIM:249100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Pineoblastoma, Ret... ORPHA:790
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration or ac... ORPHA:217093
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Short stature, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy, Chordee,... OMIM:309801
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy OMIM:260920
Mucopolysaccharidosis Type 3
Hepatomegaly, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Low levels of vitamin D, Rod-c... ORPHA:581
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal circulating enzyme concentration or activity, Optic neuropathy, Abnor... ORPHA:909
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Abnormality of Krebs cycle metabolism, Rod-cone dystrophy, Optic atrophy, Pigmentar... ORPHA:255210
Alagille Syndrome 1
Elevated hepatic transaminase, Hepatocellular carcinoma, Chorioretinal atrophy, Cholestasis, Pigm... OMIM:118450
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Short stature, Patchy hypo-... ORPHA:79474
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Decreased nerve conduction velocity, Abnor... ORPHA:512
Autosomal Recessive Hypophosphatemic Rickets
Low serum calcitriol, Short stature, Elevated alkaline phosphatase of bone origin, Abnormality of... ORPHA:289176
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Orchitis, Splenomegaly, Jaundice, E... ORPHA:99827
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal vitamin B12 level ORPHA:544503
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Abnormal neutrophil count ORPHA:723
Eiken Syndrome
Elevated circulating alkaline phosphatase concentration, Low levels of vitamin D, Short stature OMIM:600002
Fanconi Renotubular Syndrome 2
High serum calcitriol, Short stature OMIM:613388
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... ORPHA:744
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Low levels of vitamin D, Growth delay, Delayed puberty, Irregular hyperpigmentation, Anemia ORPHA:89842
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess OMIM:612852
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Short stature, Enlarged labia minora OMIM:266270
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Short stature, Chorioretinal dysplasia, Cryptorchidism, Anemia, Azoospermia,... ORPHA:534
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Leukocytosi... ORPHA:3260
Hypophosphatemic Rickets, X-Linked Recessive
High serum calcitriol, Short stature OMIM:300554
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Growth delay, Abnormality of visual evoked potentials, Optic nerve co... ORPHA:667
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... ORPHA:466768
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Growth delay, Iron deficiency anemia, Abnormality of vitamin metabolism, Delayed puberty, Low lev... ORPHA:79408
Dent Disease 1
High serum calcitriol, Short stature OMIM:300009
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Thrombocytopenia, Leukopenia, Poik... ORPHA:79277
Epidermal Nevus Syndrome
Low levels of vitamin D, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, High serum calcitriol OMIM:617994
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Short stature, Precocious puberty, Cryptorchidism, Abnormality of the anterior... ORPHA:438213
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K, Moderate postnatal growth retardation OMIM:118650
Neurodegeneration With Brain Iron Accumulation 1
Hyperpigmentation of the skin, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal deg... OMIM:234200
Ataxia With Vitamin E Deficiency
Decreased circulating vitamin E concentration, Abnormality of central somatosensory evoked potent... OMIM:277460
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Disproportionate short-trunk short stature OMIM:272460
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:3455
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:99829
Multiple Myeloma
Splenomegaly, Anemia, Abnormality of vitamin B12 metabolism ORPHA:29073
Juvenile Nephropathic Cystinosis
Growth delay, Low levels of vitamin D, Elevated alkaline phosphatase of bone origin ORPHA:411634
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Dent Disease
High serum calcitriol ORPHA:1652
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Intrauterine growth retardation, Low levels of vitamin D ORPHA:90348
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension, Recurrent pancreatitis OMIM:606721

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rbp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rbp1.

No publications found that use IMPC mice or data for Rbp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rbp1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rbp1tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rbp1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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