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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 fasting circulating glucose level Rbp1tm2b(EUCOMM)Hmgu HOM Late adult 1.45×10-05
decreased fasting circulating glucose level Rbp1tm2b(EUCOMM)Hmgu HOM   Early adult 6.68×10-05
decreased grip strength Rbp1tm2b(EUCOMM)Hmgu HOM Early adult 9.56×10-06

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Echo

M-Mode Images

52 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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Adult LacZ

LacZ Images Wholemount

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

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
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Retinitis Pigmentosa 59
Hepatomegaly, Cystoid macular edema, Rod-cone dystrophy, Micropenis, Elevated hepatic transaminas... OMIM:613861
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Low levels of vitamin A, Elevated circulating aspartate... OMIM:615558
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Low levels of vitamin A, Elevated circulating aspartate aminotransferase con... OMIM:619481
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Oliver-Mcfarlane Syndrome
Severe short stature, Hypoplasia of penis, Decreased response to growth hormone stimulation test,... OMIM:275400
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Liberfarb Syndrome
Retinal degeneration, Short stature, Retinal pigment epithelial mottling, Optic disc pallor, Bone... OMIM:618889
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Abnormality of vitamin E metabolism, Acute hepatic... ORPHA:209902
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Pigmentary retinopathy OMIM:609016
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Maternal Uniparental Disomy Of Chromosome 4
Rod-cone dystrophy, Short stature, Low levels of vitamin A, Low levels of vitamin K, Pigmentary r... ORPHA:96180
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Low levels of vitamin A, Aplastic anemia, Macroc... ORPHA:811
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Glutathione Synthetase Deficiency
Hemolytic anemia, Reduced glutathione synthetase level, Pigmentary retinopathy, Neutropenia OMIM:266130
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... ORPHA:79302
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Low levels of vitamin A, Cholesta... ORPHA:171
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Short stature, Retinal detachment, Retinal dystrophy, Optic ... OMIM:251270
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... OMIM:264470
Congenital Toxoplasmosis
Intrauterine growth retardation, Abnormality of retinal pigmentation, Hepatomegaly, Elevated hepa... ORPHA:858
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hepatomegaly, Rod-cone dystrophy, Low levels of vitamin A, C... ORPHA:14
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Low levels of vitamin A, Cholestasis, Jaundice, Pancreatic cy... ORPHA:731
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Chylomicron Retention Disease
Retinopathy, Acanthocytosis, Elevated hepatic transaminase, Increased hepatocellular lipid drople... ORPHA:71
Cofs Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Hypogonadism, Intrauterine gro... ORPHA:1466
Senior-Loken Syndrome
Short stature, Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis ORPHA:3156
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Laurence-Moon Syndrome
Short stature, Pigmentary retinopathy, Small scrotum, Micropenis OMIM:245800
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Generalized Eruptive Histiocytosis
Histiocytosis, Spotty hyperpigmentation, Hypereosinophilia, Elevated total serum tryptase, Abnorm... ORPHA:157991
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Pigmentary retinopathy OMIM:617613
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypoplasia of penis, O... ORPHA:791
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Short stature, Hypergonadotropic hypogonadism, Decreased tes... ORPHA:3085
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Leber Congenital Amaurosis 1
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... OMIM:204000
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Postnatal growth retardation, Hypospadias, Optic atrophy, Decre... OMIM:610198
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Short stature OMIM:619090
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Intrauterine growth retardation, Short stature ORPHA:2515
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Abnormality of the liver, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abno... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Cholestatic liver disease, Abnormal enzyme/coenzyme activit... ORPHA:79095
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Moderately short... ORPHA:506353
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Short stature, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Elevat... OMIM:268020
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Intrauterine growth retardation, Short stature, Low levels of vitamin A... OMIM:613658
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Pigmentary retinopathy, Hypogonadism OMIM:268050
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Abnormal protein N-linked glycosylation, Elevated circulating alkaline ... OMIM:616829
Congenital Rubella Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly,... ORPHA:290
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Formiminoglutamic Aciduria
Megaloblastic anemia, Abnormal enzyme/coenzyme activity, Abnormality of folate metabolism, Anemia... ORPHA:51208
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Low levels of vitamin A, Low levels of vitamin K, Iron deficie... ORPHA:309031
Diamond-Blackfan Anemia 9
Growth delay, Anemia, Low levels of vitamin D OMIM:613308
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Low levels of... OMIM:619991
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hepatic fibrosis, Hepat... OMIM:614480
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Cryptorchidism, Pigmentary retinopathy, Micropenis ORPHA:370968
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol, Exudative vitreoretinopathy, Short stature, Retinal detachment, Isosexual p... ORPHA:2788
Hypercholanemia, Familial, 2
Low levels of vitamin D, Prolonged neonatal jaundice OMIM:619256
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Macular degeneration, Short stature, Retinopathy, Generalize... ORPHA:816
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hyperpigmentation of the sk... OMIM:613313
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Short stature, Hypogonadotropic hypogo... ORPHA:1173
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Classic Galactosemia
Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Abnormal erythrocyte enzyme lev... ORPHA:79239
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Low levels of vitamin A OMIM:277350
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Short stature, Retinal coloboma, Abnorm... ORPHA:2510
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Abnormality of visual evoked potentials, Hypoplasia of... ORPHA:352731
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Pigmentary retinopathy, Hepatic fibr... ORPHA:110
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Jeune Syndrome
Abnormality of retinal pigmentation, Abnormality of the liver, Short stature ORPHA:474
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the liver, Short stature ORPHA:44
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Elevated hepatic transaminase, Hyperpigmen... OMIM:604250
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Abnormality of the pancreas, Elevated hepatic transaminase, Anemia, ... ORPHA:54251
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic bil... OMIM:614866
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Ring Chromosome 14 Syndrome
Growth delay, Pigmentary retinopathy OMIM:616606
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness, Hypergonadotropic hypogonadism, Abnormal spermatogenesis, ... ORPHA:90646
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, External genital hypoplasia, Rod-cone dystrophy OMIM:600151
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Elevated ... OMIM:617406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cryptorchidism, Pigmentary retinopathy, Micropenis OMIM:613156
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methylcobalamin, Decreased adenosylcobalamin, Methylmalonic acidemia, Neutropenia, Grow... OMIM:614857
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dys... OMIM:214110
Narp Syndrome
Rod-cone dystrophy, Short stature, Retinal pigment epithelial mottling, Optic disc pallor, Retina... ORPHA:644
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Low levels o... ORPHA:139507
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatic failure, Hepatosplenomegaly... ORPHA:158057
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Cholestatic liver disease, Retinopathy, Chorio... ORPHA:5
Vitamin D-Dependent Rickets, Type 3
Decreased circulating calcifediol concentration, Low serum calcitriol, Elevated circulating alkal... OMIM:619073
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Short stature, Attenuation of retinal blood vessels, Pigmentary retinopathy, ... OMIM:300578
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Bardet-Biedl Syndrome 6
External genital hypoplasia, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Vaginal atr... OMIM:605231
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy... OMIM:222300
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Xq12-Q13.3 Duplication Syndrome
Short stature, Abnormality of visual evoked potentials, Low alkaline phosphatase, Optic disc pall... ORPHA:314389
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Imerslund-Grasbeck Syndrome 1
Abnormal blood folate concentration, Megaloblastic anemia, Vitamin B12 deficiency, Malabsorption ... OMIM:261100
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Cohen Syndrome
Decreased response to growth hormone stimulation test, Short stature, Leukopenia, Optic atrophy, ... OMIM:216550
Leigh Syndrome With Leukodystrophy
Optic atrophy, Anemia, Pigmentary retinopathy ORPHA:255241
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism, Intrauterine growth retardation, Hepatic failure, Hepatosple... ORPHA:541423
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1433
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Elevated circulating alk... ORPHA:400
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Mulibrey Nanism
Hepatomegaly, Short stature, Pigmentary retinopathy, Growth delay, Intrauterine growth retardation OMIM:253250
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Rod-cone dystrophy, Short s... ORPHA:2235
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Short stature OMIM:252011
Juvenile Paget Disease
Optic atrophy, Short stature, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Chédiak-Higashi Syndrome
Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Large clumps of pigment... ORPHA:167
Aceruloplasminemia
Abnormal pancreas morphology, Abnormality of retinal pigmentation, Retinal degeneration, Macular ... ORPHA:48818
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Decreased proportion of CD3-positive T cells, Reduced proportio... ORPHA:90362
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation, Parathyroid adenoma ORPHA:122
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Cryptorchidism, Hepatomegaly, Postnat... ORPHA:90321
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Short stature, Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Gallbladder Disease 1
Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Pancreatitis, Cholestasi... OMIM:600803
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Hypoplastic spleen, Pancytopeni... ORPHA:699
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Micropenis, Cone/cone-rod dystrophy, Macular atrophy, B... OMIM:615994
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Short stature, Optic atrophy, Ab... ORPHA:585
Warburg Micro Syndrome 2
Micropenis, Optic atrophy, Undetectable visual evoked potentials, Hypoplastic labia majora, Postn... OMIM:614225
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Short stature OMIM:108145
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Decreased adenosylcobalamin, Pigmentary retinopathy, Methylmalonic acidemia... OMIM:277400
Cohen Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Abnormality of skin pigmentati... ORPHA:193
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... ORPHA:567983
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Abnormal enzyme/coenzyme activity ORPHA:79264
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Vita... ORPHA:35858
Celiac Disease, Susceptibility To, 1
Reduced blood folate concentration, Short stature, Low levels of vitamin K, Iron deficiency anemi... OMIM:212750
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Short stature OMIM:619059
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... OMIM:619644
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... ORPHA:1215
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Sh... OMIM:203800
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Hepatomegaly, Severe short stature, Splenomegaly, Papilledem... OMIM:309900
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg... OMIM:613812
Dilated Cardiomyopathy With Ataxia
Growth delay, Microvesicular hepatic steatosis, Hypoplasia of penis, Hypochromic microcytic anemi... ORPHA:66634
Secondary Short Bowel Syndrome
Growth delay, Abnormality of vitamin metabolism, Aganglionic megacolon, Cholestasis ORPHA:95427
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Intrauterine growth retardation, Short stature ORPHA:2518
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Refractory Celiac Disease
Low serum calcitriol, Increased proportion of HLA DR+ T cells, Normocytic anemia, Iron deficiency... ORPHA:398063
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Pernicious Anemia
Megaloblastic anemia, Malabsorption of Vitamin B12 OMIM:170900
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Hepatomegaly ORPHA:2971
Lead Poisoning
Abnormality of vitamin D metabolism, Abnormality of the autonomic nervous system, Oligospermia, L... ORPHA:330015
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Perifoveal ring of hyperautofluorescence, Chronic active hepa... OMIM:240300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic st... ORPHA:436271
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic f... ORPHA:71212
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Vici Syndrome
Abnormality of retinal pigmentation, Short stature, Abnormal macular morphology, Hypopigmentation... ORPHA:1493
Werner Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Short stature, Aplasia/Hypoplasia of the t... ORPHA:902
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Retinal dystrophy, Undetectable visual evoked potentials, Optic disc pallor, Aplas... ORPHA:423479
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1, Abnormal autonomic nervous system physiology, Postural hypotension with... ORPHA:369873
Bardet-Biedl Syndrome 1
Retinal degeneration, Bone spicule pigmentation of the retina, Micropenis, Rod-cone dystrophy, At... OMIM:209900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Growth delay, Hepatosplenomegaly, Anisopoikilocytosis, Elevate... ORPHA:300298
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Autosomal Dominant Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Iron deficiency anemia, Tooth abscess, G... ORPHA:89937
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,... OMIM:301068
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Delayed puberty, Cryptorchidism, Intrauterine growth ret... ORPHA:3121
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Mal... OMIM:261000
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia, Pigmentary retinopathy, Short stature OMIM:530000
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Immunodeficiency 47
Exocrine pancreatic insufficiency, Abnormal protein N-linked glycosylation, Hepatomegaly, Splenom... OMIM:300972
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Increased circulating lactate dehydrogenase concentrat... OMIM:601775
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Increased hepatoce... OMIM:220110
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Abnormality of visual evoked potentials, Hypopigme... ORPHA:79431
Cockayne Syndrome A
Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Micropenis, Retinal pigment epit... OMIM:216400
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Mpdu1-Cdg
Type I transferrin isoform profile, Decreased response to growth hormone stimulation test, Abnorm... ORPHA:79323
Mogs-Cdg
Hydrocele testis, Absent brainstem auditory responses, Fair hair, External genital hypoplasia, He... ORPHA:79330
Mitochondrial Trifunctional Protein Deficiency
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Pig... OMIM:609015
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Leukoc... ORPHA:480520
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Decreased adenosylcobalamin, Reduced number of intrahepatic bile ducts, Vit... ORPHA:79284
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Intrauterine growth retardation, Retinal degeneration, Abnormality of macul... ORPHA:79282
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Short stature, Optic a... ORPHA:2715
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... ORPHA:288
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Increased circulating lactate dehydrogenase concentration... ORPHA:91547
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Low levels of vitamin K ORPHA:565899
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Splenomegaly ORPHA:773
Isolated Succinate-Coq Reductase Deficiency
Proportionate short stature, Severe short stature, Intrauterine growth retardation, Pigmentary re... ORPHA:3208
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Short stature OMIM:266265
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Hepatomegaly, Pigmentary retinopathy OMIM:560000
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Pyruvate Dehydrogenase E2 Deficiency
Abnormal enzyme/coenzyme activity, Low levels of vitamin B1, Retinal degeneration ORPHA:79244
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Short stature, Pigmentary retinopathy, Optic atrophy, Freckl... OMIM:610651
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatic failure, Hepatosp... OMIM:259720
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Pigmentary retinopathy, Cholestasis, Diffuse hepatic steatosis, Chronic hepat... ORPHA:746
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Decreased adenosylcobalamin, Pancytope... OMIM:251110
Classic Homocystinuria
Abnormality of retinal pigmentation, Hepatomegaly, Retinal detachment, Optic atrophy, Elevated he... ORPHA:394
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, ... ORPHA:30391
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Polycythemia, Low levels of vitamin E, Abnorm... ORPHA:309854
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal enzyme/coenzyme activity, Abnormality of visual evoked potentials, Abnormal amplitude of... ORPHA:168491
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Microphthalmia With Linear Skin Defects Syndrome
Vitritis, Abnormality of retinal pigmentation, Hypopigmented skin patches, Severe short stature, ... ORPHA:2556
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Pigmentary retinopathy, Optic disc pallor, Clitoral hypertrophy, Brush... OMIM:214100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Abnormal enzyme/coenzyme activity, Abnormal myeloid leukocyte morphology, Short sta... ORPHA:79259
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Abnormal... OMIM:203700
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Decreased adenosylcobalamin, Pancytopenia, Methylmalonic acidemia, Neutrope... OMIM:277380
Congenital Disorder Of Glycosylation, Type Iit
Short stature, Abnormal protein O-linked glycosylation, Iron deficiency anemia, Pineal cyst, Low ... OMIM:618885
Cockayne Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Decreased nerve conduction velocity, Retinal d... ORPHA:191
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Decreased adenosylcobalamin, Pancytope... OMIM:251100
Cockayne Syndrome B
Hepatomegaly, Decreased nerve conduction velocity, Severe short stature, Splenomegaly, Micropenis... OMIM:133540
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated hepatic transaminase, Hepatitis ORPHA:829
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly ORPHA:742
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Growth delay, Intrauterine gro... OMIM:612562
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Splenomegaly, Short stature, Pancreatic fibrosis, Hepatocellular carc... OMIM:232220
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased motor nerve ... OMIM:601152
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Cryptorchidism, Pigmentary retinopathy, Micropenis OMIM:614230
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:2163
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Short stature, Optic atrophy, Optic disc pallor, Bone spicule pigmentation of... OMIM:268315
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Abnormality of visual evoked potentials, Increased ... ORPHA:35069
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Severe short stature, Retinal thinning, Cone/cone-rod dystro... ORPHA:85167
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Decreased adenosylcobalamin, Methylmalon... OMIM:277410
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Bardet-Biedl Syndrome 20
Pancreatitis, Rod-cone dystrophy, Micropenis, Papilledema, Retinal vascular tortuosity, Elevated ... OMIM:619471
Aicardi Syndrome
Precocious puberty, Abnormality of retinal pigmentation, Hepatoblastoma, Retinal detachment, Opti... ORPHA:50
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:1824
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Short stature ORPHA:1389
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Short stature ORPHA:702
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal sensory nerve conduction velocity, Pigmentary r... ORPHA:88628
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Short stature, Pigmentary retinopathy, Increased circulating prolactin concentration, Optic disc ... ORPHA:502423
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Short stature ORPHA:1933
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Precocious puberty, Abnormality of retinal pigmentation, Multiple c... ORPHA:636
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrop... OMIM:229300
Trisomy 18
Abnormality of retinal pigmentation, Short stature, Abnormal morphology of female internal genita... ORPHA:3380
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Cartilage-Hair Hypoplasia
Disproportionate short-limb short stature, Abnormality of retinal pigmentation, Hepatomegaly, Abn... ORPHA:175
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, Growth delay, Pigmentary retinopathy, Short stature OMIM:617675
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Growth delay, Elevated circulating alkaline phosphatase concentrat... OMIM:277440
Mohr-Tranebjaerg Syndrome
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Abno... ORPHA:52368
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Lowry-Wood Syndrome
Intrauterine growth retardation, Pigmentary retinopathy, Short stature OMIM:226960
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Elevated alkaline phosphatase of bone origin, Short stature, High serum calcitriol ORPHA:157215
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Low serum calcitriol, Short stature, Elevated alkaline phosphatase... ORPHA:289157
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... ORPHA:485421
Hermansky-Pudlak Syndrome
Neutropenia, Ocular albinism, Hypopigmentation of the skin, Abnormality of visual evoked potentia... ORPHA:79430
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunction, Abnorm... ORPHA:309271
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration, High serum calcitriol OMIM:600785
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormal enzyme/coenzyme acti... ORPHA:206436
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Acanthocytosis, Retinal flecks,... ORPHA:157850
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Short stature, Congenital hypoparathyroidism, Papilledema, Retinal calcification, D... ORPHA:93325
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Severe short stature, Retinopathy, Retinal detachment, Retin... ORPHA:2526
Achalasia-Addisonianism-Alacrima Syndrome
Abnormal autonomic nervous system physiology, Short stature, Orthostatic hypotension, Abnormality... OMIM:231550
Late-Infantile/Juvenile Krabbe Disease
Abnormal enzyme/coenzyme activity, Abnormality of visual evoked potentials, Decreased nerve condu... ORPHA:206443
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Chol... ORPHA:309256
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Short stature ORPHA:192
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Chol... ORPHA:309263
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Growth delay, Elevated circulating alkaline phosphatase concentration, High serum calcitriol OMIM:241530
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Melas
Hypoparathyroidism, Short stature, Hypogonadotropic hypogonadism, Pigmentary retinopathy, Optic a... ORPHA:550
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Hepatomegaly, Decreased nerve conduction velocity, Retinal d... ORPHA:580
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Leukopenia, Hepatosplenomegaly, Optic atrophy, Anemia, Throm... ORPHA:505248
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Growth delay, Abnormality of visual evoked potentials OMIM:614457
Hyperprolinemia Type 2
Abnormal enzyme/coenzyme activity, Reduced circulating vitamin B6 level ORPHA:79101
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Generalized hypopigmentation, Melanocytic nev... ORPHA:1969
Marchiafava-Bignami Disease
Facial palsy, Low levels of vitamin B1 ORPHA:221074
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Azoospermia, Retinal degeneration, Macular degeneration ORPHA:99
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism, Growth delay, Pigmentary retinopathy ORPHA:411629
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis OMIM:614204
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Pigmentary ... ORPHA:404454
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Short stature, Hypospadias, Ovotestis, Pigmentary ... OMIM:309801
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Granular macular appearance, Uterine neoplasm, Prostate cancer, Testicu... ORPHA:71505
Retinoblastoma
Vitreous hemorrhage, Retinoblastoma, Abnormality of retinal pigmentation, Heterochromia iridis, R... ORPHA:790
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Vitiligo ORPHA:480898
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Abnormal enzyme/coenzyme activit... ORPHA:217085
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Abnormal foveal morphology, Abnormal enzyme/coenzyme activit... ORPHA:217093
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of vitamin D metabolism, Low serum calcitriol, Short stature, Elevated alkaline phosp... ORPHA:289176
White-Sutton Syndrome
Rod-cone dystrophy, Short stature, Optic nerve hypoplasia, Abnormality of visual evoked potential... OMIM:616364
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Rod-cone dystrophy, Hepatic failure, Abnormality of Krebs cycle metabolism, Pigment... ORPHA:255210
Mucopolysaccharidosis Type 3
Hepatomegaly, Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Pigmentary retinopathy, Opt... ORPHA:581
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Iron deficiency anemia, Delayed puberty, Growth delay, Anemia, Abnormality of... ORPHA:79408
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Retinal pigment epithelial mottlin... OMIM:219800
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Hepatosplenomegaly, Optic disc pallor OMIM:260920
Metachromatic Leukodystrophy