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Gene: Grm6 MGI:1351343

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Gene Summary

Name:
glutamate receptor, metabotropic 6
Synonyms:
nob3,  nerg1,  mGluR6

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
abnormal eye morphology Grm6tm1b(EUCOMM)Wtsi HOM Early adult 0.00
cataract Grm6tm1b(EUCOMM)Wtsi HOM Early adult 1.59×10-05
mydriasis Grm6tm1b(EUCOMM)Wtsi HOM Early adult 1.57×10-22
increased kidney weight Grm6tm1b(EUCOMM)Wtsi HOM Early adult 2.75×10-10
increased heart weight Grm6tm1b(EUCOMM)Wtsi HOM Early adult 2.26×10-13
impaired pupillary reflex Grm6tm1b(EUCOMM)Wtsi HOM Early adult 1.38×10-22
hyperactivity Grm6tm1b(EUCOMM)Wtsi HOM   Early adult 3.55×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  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)
Parathyroid gland 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)
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)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea 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)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
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%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

32 Images

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Adult LacZ

LacZ Images Wholemount

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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Human diseases caused by Grm6 mutations

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

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

The table below shows human diseases associated to Grm6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270

The table below shows human diseases predicted to be associated to Grm6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis, Mydriasis OMIM:619365
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Morm Syndrome
Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Abnormality of the kidney, Aggressiv... ORPHA:75858
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis OMIM:156850
Iatrogenic Botulism
Urinary retention, Dysphagia, Mydriasis ORPHA:254509
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Wound Botulism
Urinary retention, Dysphagia, Mydriasis ORPHA:178475
Schizophrenia 15
Hyperactivity OMIM:613950
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intestinal Botulism
Dysphagia, Mydriasis ORPHA:178481
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cataract 42
Cataract, Developmental cataract OMIM:115900
Toxin-Mediated Infectious Botulism
Dysphagia, Mydriasis ORPHA:230800
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinuria, Ectopia lentis OMIM:238700
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Botulism
Urinary retention, Dysphagia, Mydriasis ORPHA:1267
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Foodborne Botulism
Urinary retention, Dysphagia, Mydriasis ORPHA:228371
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Serotonin Syndrome
Restlessness, Tremor, Agitation, Acute kidney injury, Mydriasis ORPHA:43116
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Trichomegaly
Cataract OMIM:190330
Inhalational Botulism
Urinary retention, Mydriasis ORPHA:254504
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Infant Botulism
Keratoconjunctivitis sicca, Dysphagia, Anorexia, Mydriasis ORPHA:178478
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy OMIM:620270
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior, Impulsivity, Dysphagia, Choreoa... ORPHA:2131
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... OMIM:204000
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Phenylketonuria
Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid level, Increased level of hippuric a... OMIM:261600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Miller Fisher Syndrome
Anisocoria, Dysphagia, Mydriasis ORPHA:98919
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Mannosidosis, Beta A, Lysosomal
Increased urinary disaccharide excretion, Hyperactivity, Tortuosity of conjunctival vessels, Aggr... OMIM:248510
Galactosemia Iv
Cataract OMIM:618881
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R... OMIM:613550
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Pulm... OMIM:620141
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... ORPHA:2119
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... ORPHA:85445
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Optic disc pallor, Splenomegaly, Optic atrophy, Hepatosplenomegaly, Mydriasis OMIM:259720
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... OMIM:239500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Retinal infarction, Mydriasis OMIM:613834
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Arachnoid Cyst
Urinary bladder sphincter dysfunction, Disinhibition, Urinary incontinence, Mydriasis ORPHA:2356
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Cataract, Abnormal chorioretinal morphology, Proteinuria, Ma... ORPHA:225
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity, Mydriasis OMIM:619351
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... ORPHA:3156
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Tremor, Hematuria, Tubulointerstitial nephritis, Agitation, Acut... ORPHA:90068
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Cataract ORPHA:79238
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cystic rena... OMIM:613730
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hepatomegaly, Hyperactivity, Dystonia OMIM:615924
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Abnormal r... ORPHA:488618
Scorpion Envenomation
Restlessness, Ketonuria, Miosis, Tremor, Myocarditis, Glycosuria, Acute kidney injury, Mydriasis ORPHA:466677
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Miosis, Retinal dystrophy, Macular atrophy, Corneal scarring, Bupht... OMIM:212550
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Optic neuropathy, Optic atrophy, Optic nerve compression, Mydriasis OMIM:619727
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot ORPHA:1381
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Pituitary Apoplexy
Mydriasis ORPHA:95613
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cataract 48
Cataract, Miosis OMIM:618415
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Cataract, 3-Methylglutaconic aciduria, Iris hypopigmentation ORPHA:67048
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... OMIM:203780
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... OMIM:619827
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... ORPHA:891
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Renal insufficiency, Astigmatism, Polydipsia, ... OMIM:615986
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami... ORPHA:414
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... OMIM:615415
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di... OMIM:608836
Refsum Disease, Classic
Cataract, Miosis, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Rod-cone dystrophy, Re... OMIM:266500
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Optic Atrophy 5
Abnormality of pattern visual evoked potentials OMIM:610708
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Chorioretinal hypopig... OMIM:617303
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Enuresis, Dysphagia, Aggressive behavior ORPHA:289483
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT... ORPHA:251004
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Attrv30M Amyloidosis
Vitreous floaters, Cardiomegaly, Cardiomyopathy, Nephropathy, Abnormal renal physiology ORPHA:85447
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract ORPHA:570422
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Dysphagia OMIM:300858
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Miosis, Vitreous haze, Vitreous floaters, Epiretinal memb... ORPHA:280921
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Proteus-Like Syndrome
Retinal detachment, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... ORPHA:2969
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Nephrolithiasis, Choreoathetosis, Self-injurious behavior OMIM:620023
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis ORPHA:3449
Alexander Disease
Microcoria OMIM:203450
Plague
Hepatomegaly, Anorexia, Splenomegaly, Endocarditis, Conjunctival hyperemia, Mydriasis ORPHA:707
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... OMIM:602482
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Microscopic... OMIM:308940
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Tremor, Optic atrophy, Cardiomyopathy, Pigmentary reti... OMIM:222300
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia OMIM:607371
Alagille Syndrome
Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Renal hypoplasia/aplasia... ORPHA:52
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality of the kidney, Abnormal pupil m... ORPHA:1764
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism, Stage 5 chronic kidney disease OMIM:612285
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Duplicated collectin... OMIM:267750
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Heparan sulfate exc... OMIM:252920
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Facial Spasm
Anisocoria OMIM:134300
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Cataract OMIM:615184
Aniridia 3
Aniridia, Cataract OMIM:617142
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Optic atrophy, Abnormal heart... ORPHA:93399
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti... OMIM:604278
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... ORPHA:505248
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Abnormal ri... ORPHA:500095
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... OMIM:208540
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, An... OMIM:180500
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder, Cataract OMIM:617370
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape, Slow pup... ORPHA:45358
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232220
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Neurogenic bladder, Cataract, Dysphagia OMIM:619780
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Abnormal pupil morphology, Microcor... ORPHA:233
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Wagro Syndrome
Cataract, Corneal opacity, Proteinuria, Aggressive behavior, Agitation, Compulsive behaviors, Ani... OMIM:612469
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Recurrent urinary tract infections, Abnormal repetitive mannerisms, Bruxism, Dysph... OMIM:615873
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
H Syndrome
Abnormality of the kidney, Hepatosplenomegaly, Corneal arcus, Micropenis, Enlarged kidney ORPHA:168569
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Tremor, Atrial septal defect, Patent foramen ovale, Hydro... OMIM:620327
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Alg9-Cdg
Hepatomegaly, Torticollis, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypopla... ORPHA:79328
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... OMIM:618280
Lymphoid Interstitial Pneumonia
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney ORPHA:79128
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae OMIM:615877
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Anorexia, Renal interstitial edema, Sterile pyuria, Tubulointerstit... ORPHA:91500
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Opa... OMIM:252500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Oculocerebrorenal Syndrome Of Lowe
Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoac... ORPHA:534
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Trichinellosis
Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... ORPHA:863
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response ORPHA:90658
Canavan Disease
Abnormality of visual evoked potentials ORPHA:141
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronep... OMIM:243605
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Igg4-Related Kidney Disease
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Dent Disease
Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... ORPHA:1652
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephropathy, Neph... ORPHA:116
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricul... OMIM:300855
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Anisocoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Abnormal repe... OMIM:618653
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm... OMIM:175780
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Micropenis OMIM:610125
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Cataract, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Devel... OMIM:181270
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a... OMIM:617913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials ORPHA:1933
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Optic atrophy OMIM:231550
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Pulmonic stenosis, Attention deficit hyperactivity disorder, Atrial septal defe... OMIM:618223
Knobloch Syndrome
Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Abnormal vitreous humor morphology, M... ORPHA:1571
Alagille Syndrome 1
Duplicated collecting system, Cataract, Ventricular septal defect, Band keratopathy, Multiple sma... OMIM:118450
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials ORPHA:1215
Charcot-Marie-Tooth Disease Type 4C
Abnormal pupillary light reflex, Optic atrophy, Anisocoria, Abnormal optic nerve morphology, Head... ORPHA:99949
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... ORPHA:79259
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials OMIM:617523
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials ORPHA:2971
Revesz Syndrome
Exudative retinopathy, Megalocornea, Leukocoria OMIM:268130
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Legius Syndrome
Hyperactivity, Cataract, Nephrolithiasis, Mitral valve prolapse, Lisch nodules, Male urethral mea... ORPHA:137605
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials ORPHA:96
Tuberous Sclerosis Complex
Hyperactivity, Renal insufficiency, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavio... ORPHA:805
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Pigmentary reti... OMIM:309801
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials OMIM:256600
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Multicystic kidney dysplasia, Displacement of the urethral meatus, Leukocoria ORPHA:1556
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Mepan Syndrome
Abnormality of visual evoked potentials ORPHA:508093
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macu... OMIM:186580
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Dysphagia OMIM:615510
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Abnormal pupil morphology, Microcornea, Vesicoureter... ORPHA:261552
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials OMIM:601152
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials ORPHA:168491
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... ORPHA:42775
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... ORPHA:67036
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials OMIM:616875
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials ORPHA:52368
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... OMIM:312870
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials ORPHA:702
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials OMIM:125310
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials ORPHA:35069
Mowat-Wilson Syndrome
Cataract, Ventricular septal defect, Hypospadias, Abnormality of the kidney, Abnormal heart morph... OMIM:235730
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials ORPHA:480898
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
Superficial Siderosis
Anisocoria, Functional abnormality of the bladder ORPHA:247245
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials ORPHA:485421
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
White-Sutton Syndrome
Abnormality of visual evoked potentials OMIM:616364
Witteveen-Kolk Syndrome
Hyperactivity, Cataract, Hypospadias, Aggressive behavior, Phimosis, Anisocoria, Male urethral me... OMIM:613406
Friedreich Ataxia
Abnormality of visual evoked potentials OMIM:229300
Micro Syndrome
Abnormality of visual evoked potentials ORPHA:2510
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ventricular septal defect, Hypospadias, Ectopia pupillae, Atrial septal defect, A... OMIM:194190
Infantile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206436
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials ORPHA:309263
Mogs-Cdg
Abnormality of visual evoked potentials ORPHA:79330
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials ORPHA:309271
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal heart valve morphology, Hypospadias, Abnormal pupil morphology, Cystocele, ... ORPHA:286
Sponastrime Dysplasia
Microcoria, Cataract, Hypospadias, Congenital aphakia ORPHA:93357
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials ORPHA:79430
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials ORPHA:512
Cerebrotendinous Xanthomatosis
Abnormality of visual evoked potentials ORPHA:909
Cockayne Syndrome B
Abnormality of visual evoked potentials OMIM:133540
Cockayne Syndrome A
Abnormality of visual evoked potentials OMIM:216400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials ORPHA:667
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270

Histopathology

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

There is no histopathology data for Grm6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Grm6.

No publications found that use IMPC mice or data for Grm6.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Grm6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Grm6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Grm6tm434(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Grm6tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Grm6tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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