Gene Summary

Name:
transmembrane protein 161B
Synonyms:
2810446P07Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Tmem161btm2b(EUCOMM)Hmgu HET Early adult 5.05×10-05
decreased bone mineral content Tmem161btm2b(EUCOMM)Hmgu HET Early adult 7.81×10-05
preweaning lethality, complete penetrance Tmem161btm2b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating total protein level Tmem161btm2b(EUCOMM)Hmgu HET Early adult 1.67×10-05
decreased circulating serum albumin level Tmem161btm2b(EUCOMM)Hmgu HET Early adult 3.44×10-05
increased total body fat amount Tmem161btm2b(EUCOMM)Hmgu HET Early adult 3.81×10-08

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue 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)
Liver 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)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland 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 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 50% (1 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

63 Images

Adult LacZ

LacZ Images Wholemount

21 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

4 Images

Auditory Brain Stem Response

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

1 Images

Human diseases caused by Tmem161b 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 Tmem161b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis ORPHA:88643
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Hyperreflexia
Abnormality of retinal pigmentation, Microcephaly OMIM:145290
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia OMIM:256300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel... OMIM:618889
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Acrania, Micrognathia, Dysplastic corpus callosum, Colpocephaly, Chiari... OMIM:618820
Refractory Celiac Disease
Osteoporosis, Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypop... ORPHA:398063
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi... OMIM:246700
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... OMIM:619389
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia ORPHA:2246
Cofs Syndrome
Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Micrognathia, Optic at... ORPHA:1466
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy, Microcephaly OMIM:619090
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Abnormality of retinal pigmentation, Micrognathia, Microcephaly, Retrognathia ORPHA:2521
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia OMIM:608093
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Turricephaly, Craniosynostosis, Microcephaly, Agenesis of co... ORPHA:1496
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Pachygyria, Microcephaly OMIM:617613
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
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
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Dengue Fever
Hypoproteinemia ORPHA:99828
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, Microcephaly, Flat occiput, Dolichocephaly OMIM:616606
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D... OMIM:616108
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Microcephaly, Optic atrophy, Wide nasal bridge, Biparietal n... ORPHA:2518
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Later... OMIM:619517
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Optic atrophy, Brachycephaly, Wide nasal bridge, Pigmentary retinopathy, Rod-con... OMIM:264470
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Leber Congenital Amaurosis 2
Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary... OMIM:204100
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Frontal bossing, Retinal degeneration, Microcephaly ORPHA:3363
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2315
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypoproteinemia, Hypocalcemia OMIM:235255
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... ORPHA:816
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly OMIM:608104
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2070
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Microcephaly, Pigmentary retinopathy, Abnormal pons morphology, Cer... ORPHA:370968
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Microcephaly ORPHA:2515
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Carious teeth, Malar f... ORPHA:1390
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypoproteinemia, Hypocalcemia ORPHA:1655
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Immunodeficiency 32B
Failure to thrive, Hypoalbuminemia OMIM:226990
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:1873
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Secondary microcephaly, Hypoplasia of the corpus callosum, C... ORPHA:397951
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Joubert Syndrome 3
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Retinal dystrophy, Wide nasal bridge, Pigme... OMIM:608629
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Dolichocephaly, Optic atrophy, Wide nasal bridge, Macrocephaly ORPHA:44
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy, Carious teeth ORPHA:1897
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Hypoalbuminemia OMIM:617021
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Failure to thrive, Hypoalbuminemia ORPHA:367
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Micro Syndrome
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Ab... ORPHA:2510
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Olivopontocerebellar atrophy OMIM:164500
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... OMIM:610965
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Microcephaly, Retinal pigment epithelial mottling, Lateral ventricle dilatation,... OMIM:614105
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... OMIM:617093
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation, Calvarial skull defect ORPHA:1117
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Aplasia/Hypoplasia of the ce... ORPHA:65
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight ORPHA:1667
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Mulibrey Nanism
Frontal bossing, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Wide n... OMIM:253250
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decreased circulating carni... ORPHA:89842
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Autosomal Recessive Spastic Paraplegia Type 15
Abnormal cerebellum morphology, Pigmentary retinopathy, Deep cerebral white matter hyperintensiti... ORPHA:100996
Juvenile Paget Disease
Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Melanocytic nevus, Macr... ORPHA:2801
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, ... OMIM:212065
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Microcephaly, Pigmentary retinopathy, Cerebellar hypoplasia, Hypopl... OMIM:613156
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hyperbi... OMIM:251880
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Retinal pigment epithelial mottling, Wide nasal bridge, Hypoplasia of the corpus c... OMIM:617102
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Abnormal adipose tissue morphology, Abnormal bone ossification, Fa... ORPHA:79324
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... ORPHA:29073
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Abnormality of retinal pigmentation, Malar prominence, Abnormal retinal va... ORPHA:2715
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Vici Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the pons, Optic atrophy, Agenesis of corpus ca... ORPHA:1493
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hypoalbuminemia, Osteoporosis, Weight loss OMIM:619487
Narp Syndrome
Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Retinal arteriolar tortuosity, Re... ORPHA:644
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypoalbuminemia, Hypernatremia OMIM:615508
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Failure to thrive, Small for gestational age, Elevated circulating creatine kina... OMIM:619055
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Wi... ORPHA:897
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Ramon Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology ORPHA:3019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hypoplasia of the pons, Optic atrophy, Pigmentary retinopathy, Lateral ven... OMIM:613154
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... OMIM:617156
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Wide na... ORPHA:791
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia OMIM:618329
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Biparietal narrowing, Microcephaly ORPHA:578
Joubert Syndrome 28
Optic disc pallor, Wide nasal bridge, Pigmentary retinopathy OMIM:617121
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly ORPHA:858
Bacterial Toxic-Shock Syndrome
Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive ORPHA:79396
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hyp... ORPHA:14
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Hypoalbuminemia OMIM:617303
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia OMIM:617729
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Camptodactyly, Umbilical hernia, Coronal craniosynostosis, Joint contracture of ... OMIM:235510
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly ORPHA:2163
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoporosis, Hypo... OMIM:277900
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... ORPHA:186
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Liver Disease, Severe Congenital
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... OMIM:619991
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Inguinal hernia, Small for gestational age, Rickets, Reduced bone mineral density, Hy... OMIM:613658
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Microce... OMIM:216550
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Prominent occiput, Abnormality of retinal pigmentation ORPHA:1259
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... ORPHA:90041
Galloway-Mowat Syndrome 1
Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th... OMIM:251300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... ORPHA:37042
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Abnormal cerebra... ORPHA:79264
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Weight loss ORPHA:85443
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Supernumerary tooth ORPHA:1264
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Macrocephaly ORPHA:141
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Microcephaly, Retinal pigment epithelial mottling, Congen... ORPHA:448237
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Brachycephaly ORPHA:1173
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis... OMIM:222470
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Increase... ORPHA:2298
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Brachycephaly, Pigmentary retinopathy, Macrocephaly, Malar flattening, Agenesis ... OMIM:612582
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Microcepha... ORPHA:50
Cln3 Disease
Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce... ORPHA:228346
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Pierson Syndrome
Hypoproteinemia OMIM:609049
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Progressive leukoencephalopathy, Optic atrophy, Leukoencephalopathy OMIM:252011
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Microcephaly OMIM:619059
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Coffin-Lowry Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Frontal bossing, Craniofacial hyp... ORPHA:192
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy, Leukoencephalopathy OMIM:619473
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Hypoalbuminemia, Hernia ORPHA:505248
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Hypoalbuminemia, Cachexia ORPHA:79076
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia OMIM:254900
Juvenile Polyposis Syndrome
Multiple lipomas, Failure to thrive, Hypoproteinemia, Rectocele ORPHA:2929
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microcephaly ORPHA:290
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis, Micrognathia, Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, C... OMIM:601374
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Primary Sclerosing Cholangitis
Osteopenia, Hypoalbuminemia, Osteoporosis, Weight loss ORPHA:171
Chromosome Xp11.3 Deletion Syndrome
Microcephaly, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal b... OMIM:300578
Usher Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:886
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Microcephaly, Basal ganglia calcification, Optic atrophy, Pigmentary retinopa... OMIM:610651
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph... OMIM:609033
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Khan-Khan-Katsanis Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Pigmentary retinopathy... OMIM:618460
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Absent septum pe... ORPHA:2556
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Micrognathia, Microcephaly OMIM:600462
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Dolichocephaly, Scap... OMIM:309900
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Trisomy 18
Microretrognathia, Abnormality of retinal pigmentation, Microcephaly, Anencephaly, Aplasia/Hypopl... ORPHA:3380
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Microcephaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:1824
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Leigh Syndrome
Pigmentary retinopathy, Focal substantia nigra T2 hyperintensity, Optic atrophy OMIM:256000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Turricephaly, Micrognathia, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Doli... OMIM:214110
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... OMIM:270400
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Eye of the tiger anomaly of globus... ORPHA:216866
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia... OMIM:619381
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Macrocephaly, Optic atrophy, Microcephaly ORPHA:585
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microcephaly, Micrognathia, Hypopla... ORPHA:193
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Micrognathia, Brushfield spots, Pachygyria, Optic nerve dysplasia, Optic atro... OMIM:614866
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Mild microcephaly ORPHA:3208
Cockayne Syndrome A
Cerebellar atrophy, Mandibular prognathia, Retinal atrophy, Delayed eruption of primary teeth, Mi... OMIM:216400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Flat occiput, Micrognathia, Brushfield spots, Aplasia/Hypoplasia of the corpus... OMIM:214100
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Micrognathia, Pigmentary retinopathy, Cerebellar hypoplasia, Hyperintensity of... ORPHA:502423
Cockayne Syndrome
Cerebral calcification, Basal ganglia calcification, Retinal arteriolar constriction, Retinal deg... ORPHA:191
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Prolidase Deficiency
Abnormality of retinal pigmentation, Micrognathia, Carious teeth, White forelock, Hypoplasia of t... ORPHA:742
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Abnormal dentate nucleus morphology, R... ORPHA:48818
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Kearns-Sayre Syndrome
Pigmentary retinopathy, Basal ganglia calcification, Microcephaly OMIM:530000
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... OMIM:619534
Cockayne Syndrome B
Mandibular prognathia, Cerebellar calcifications, Delayed eruption of primary teeth, Microcephaly... OMIM:133540
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy, Wide nasal bridge, Hypoplasia of the corpus callosum, Micrognathia OMIM:614230
Cockayne Syndrome Type 1
Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Basal ganglia ca... ORPHA:90321
Lowry-Wood Syndrome
Pigmentary retinopathy, Microcephaly OMIM:226960
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Nijmegen Breakage Syndrome
Sinusitis, Microcephaly, Long nose, Retinal pigment epithelial mottling, Micrognathia, Malar prom... OMIM:251260
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Agenesis of corpus callosum, Retinal pigment epithelial mottling OMIM:618733
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy, Cerebral atrophy OMIM:222300
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Frontal bossing, Platybasia, Failure of eruption of permanen... OMIM:272460
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Pigmentary retinopathy, Micrognathia OMIM:617675
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... ORPHA:157850
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Pigmentary retinopathy, Colpocephaly, Agenesis of corpus ... OMIM:309801
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Leptospirosis
Hyperproteinemia ORPHA:509
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormality of retinal pigmentation, Microcephaly, Abnormal cerebral white ma... ORPHA:466768
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Cachexia ORPHA:75565
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Enamel hypoplasia, Pigmentary retinopathy, Vitiligo OMIM:240300
Melas
Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Optic atrophy, Pigm... ORPHA:550
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy, Hyperostosis frontalis interna OMIM:203800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Microcephaly, Optic atrophy, Cerebral atrophy, Leukoencephalopathy, Pigmentary ... ORPHA:79282
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Wide... ORPHA:580
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Mucopolysaccharidosis Type 2, Attenuated Form