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Gene: Asns MGI:1350929

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Gene Summary

Name:
asparagine synthetase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hemoglobin content Asnstm1a(EUCOMM)Wtsi HOM   Early adult 1.59×10-05
abnormal glucose homeostasis Asnstm1a(EUCOMM)Wtsi HOM Early adult 3.03×10-05
abnormal retina pigmentation Asnstm1a(EUCOMM)Wtsi HOM   Early adult 4.77×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Asns 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 Asns by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle OMIM:615574

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Type II diabetes mellitus, Abnormality of retinal pigmentation ORPHA:2579
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Macular Dystrophy, Retinal, 2
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... OMIM:608051
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hypoglycemia OMIM:609016
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... ORPHA:97341
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... ORPHA:75377
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... OMIM:618697
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Retinitis Pigmentosa 54
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... OMIM:613428
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Cone-Rod Dystrophy 5
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:600977
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... OMIM:613731
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... ORPHA:85128
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy ORPHA:75373
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 7
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... OMIM:608133
Retinitis Pigmentosa 68
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615725
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... OMIM:613750
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:618220
Retinitis Pigmentosa 90
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:619007
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration OMIM:617879
Cone-Rod Dystrophy 24
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:620342
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Neutropenia OMIM:266130
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmen... OMIM:251270
Achromatopsia
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... ORPHA:49382
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Retinitis Pigmentosa 2
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... OMIM:312600
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Retinitis Pigmentosa 77
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... OMIM:617304
Retinitis Pigmentosa 83
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... OMIM:618173
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia, Chorioretinal atrophy, Retinopathy, Abnormality of retina... ORPHA:5
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Diabetes mellitus, Rod-cone dystrophy OMIM:605231
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... OMIM:605549
Ramon Syndrome
Diabetes mellitus, Abnormality of retinal pigmentation ORPHA:3019
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen OMIM:204000
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Congenital Toxoplasmosis
Anemia, Abnormality of retinal pigmentation, Thrombocytopenia ORPHA:858
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... ORPHA:816
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Congenital Rubella Syndrome
Type I diabetes mellitus, Abnormality of retinal pigmentation, Splenomegaly, Thrombocytopenia, An... ORPHA:290
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Leukoencephalopathy, Progressive, With Ovarian Failure
Dementia, Lateral ventricle dilatation OMIM:615889
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation ORPHA:3085
Retinitis Pigmentosa 51
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Cone-Rod Dystrophy 10
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Diabetes mellitus, Retinal flecks ORPHA:100996
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... ORPHA:897
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Retinitis Pigmentosa
Optic atrophy, Hyperinsulinemia, Attenuation of retinal blood vessels, Type II diabetes mellitus,... ORPHA:791
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Bardet-Biedl Syndrome 9
Hyperglycemia, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentat... OMIM:615986
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopen... OMIM:222300
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinal Dystrophy With Or Without Macular Staphyloma
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... OMIM:617547
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer... OMIM:600462
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Polymicrogyria Due To Tubb2B Mutation
Attention deficit hyperactivity disorder, Cognitive impairment, Lateral ventricle dilatation, Age... ORPHA:300573
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... OMIM:120970
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:617023
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Insulin-resistant diabetes mellitus OMIM:268020
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Abnormality of retinal pigmentation ORPHA:96
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Dementia, Frontal lobe dementia, Memory impairment, Lateral ventricle dilatation OMIM:221770
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:609033
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Choroidal Atrophy-Alopecia Syndrome
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation ORPHA:1433
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Glycosuria, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic dis... OMIM:268315
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration, Hypochromic micr... ORPHA:48818
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Kearns-Sayre Syndrome
Sideroblastic anemia, Pigmentary retinopathy, Diabetes mellitus OMIM:530000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:2481
Cone-Rod Dystrophy 6
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... OMIM:601777
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... OMIM:619649
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy OMIM:256000
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Progressive language deterioration, Memory impairment, Lateral ventricle dilatation, Frontotempor... OMIM:607485
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:257270
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Type I diabetes mellitus, Pigmentary retinopathy, Abnormal erythrocyte morphology,... ORPHA:96180
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:300578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Intellectual Developmental Disorder, Autosomal Dominant 56
Attention deficit hyperactivity disorder, Short attention span, Lateral ventricle dilatation, Bra... OMIM:617854
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Vici Syndrome
Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Abnormal macula... ORPHA:1493
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:616034
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618736
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Optic atrophy, Pigmentary retinopathy, Glycosuria ORPHA:436271
Cohen Syndrome
Optic atrophy, Leukopenia, Bull's eye maculopathy, Chorioretinal dystrophy, Bone spicule pigmenta... OMIM:216550
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Type II diabetes mellitus ORPHA:79095
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy, Splenomegaly ORPHA:773
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypo... ORPHA:71212
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Werner Syndrome
Insulin resistance, Premature graying of hair, Type II diabetes mellitus, Abnormality of retinal ... ORPHA:902
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Optic atrophy, Pigmentary retinopathy, Glycosuria OMIM:220110
Cach Syndrome
Progressive neurologic deterioration, Lateral ventricle dilatation, Cognitive impairment ORPHA:135
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of neutrophil physiology, Hypopigmentation of the skin, Hemoph... ORPHA:167
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... OMIM:613843
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Splenomegaly ORPHA:585
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Type I diabetes mellitus, Pigmentary retinopathy, Vitiligo, Asplenia, Perifoveal ring of hyperaut... OMIM:240300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:620156
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Agenesis... ORPHA:79243
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Acanthocytosis, Retinal flecks, Re... ORPHA:157850
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia, Pigmentary retinopathy OMIM:609015
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Hepatosplenomegaly, Papilledema, Splenomegaly OMIM:309900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:214110
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock, Splenomegaly ORPHA:742
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin ... ORPHA:193
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Hypoglycemia, Retinal... ORPHA:79282
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Pigmentary retinopathy, Optic atrophy OMIM:617282
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Short attention span, Agenesis of corpus callosum, Diminished abili... OMIM:612863
Bardet-Biedl Syndrome 1
Insulin resistance, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Re... OMIM:209900
Melas
Optic atrophy, Type I diabetes mellitus, Pigmentary retinopathy, Vitiligo, Type II diabetes melli... ORPHA:550
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Hy... OMIM:617052
Alstrom Syndrome
Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Att... OMIM:203800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Hydrocephalus OMIM:619833
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cognitive impairment ORPHA:2148
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Abetalipoproteinemia
Hypopigmentation of the fundus, Acanthocytosis, Reticulocytosis, Abnormality of retinal pigmentat... ORPHA:14
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,... ORPHA:2526
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Hepatosplenomegaly, Leukopenia, Abnormality of retinal pigmentation, Thrombocytope... ORPHA:505248
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Cockayne Syndrome Type 1
Anemia, Optic atrophy, Pigmentary retinopathy, Hypermelanotic macule ORPHA:90321
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Pigmentary retinopathy ORPHA:746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... OMIM:613154
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Freckling OMIM:610651
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Lateral ventricle dilatation OMIM:618291
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He... ORPHA:790
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Memory impairment, Lateral ventricle dilatation, Short attention span, Deme... ORPHA:2822
Pearson Syndrome
Pigmentary retinopathy, Glycosuria, Pancytopenia, Reticulocytosis, Splenomegaly, Hyperpigmentatio... ORPHA:699
Cockayne Syndrome
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Splenomegaly, Abnormality... ORPHA:191
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Pigmentary retinopathy, Hepatosplenomegaly, Splenomegaly, Optic nerve dysplasia, R... OMIM:614866
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Cartilage-Hair Hypoplasia
Anemia, Abnormality of retinal pigmentation, Neutropenia ORPHA:175
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Nijmegen Breakage Syndrome
Progressive vitiligo, Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Thrombocy... OMIM:251260
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Chorioretinal scar, Choroidal neovascularization, Macular edema, Reduced hemat... ORPHA:91500
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Pigmentary retinopathy, Brushfield spots OMIM:214100
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder, Dilated third ventricle, La... ORPHA:544488
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Pigmentary retinopathy, Neutropenia OMIM:277400
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Pigmentary retinopathy, Neutropenia OMIM:618460
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:620113
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Premature graying of h... ORPHA:79474
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Short attention span, Attention deficit hy... OMIM:619575
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo... ORPHA:2556
Mucopolysaccharidosis Type 2
Optic atrophy, Retinopathy, Splenomegaly, Retinal degeneration, Abnormality of retinal pigmentati... ORPHA:580
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy ORPHA:581
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Spondyloenchondrodysplasia
Ventriculomegaly, Abnormal lateral ventricle morphology ORPHA:1855
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:617260
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Hepatosplenomegaly, Retinopathy, Splenomegaly, Abnormality of retinal pigmentation... ORPHA:217085
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Glycosuria, Retinal pigment epithelial mott... OMIM:219800
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Hepatosplenomegaly, Retinopathy, Splenomegaly, Abnormality of retinal pigmentation... ORPHA:217093
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Acanthocytosis, Retinal degeneration, Hyperpigmentation of... OMIM:234200
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Dandy-Walk... ORPHA:397715
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Inguinal freckling, Hypopigmented skin patches, Chorioretinal colob... ORPHA:636
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Optic atrophy, Abnormal hemoglobin ORPHA:847
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, Splenomegaly, Retinal... OMIM:216400
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Glycosuria ORPHA:411629
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Splenomegaly, Cone/cone-rod dystrophy, Optic disc pallor ORPHA:404454
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation ORPHA:466768
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:255210
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Pigmentary retinopathy, Glucose intolerance, Impair... OMIM:606721
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Gabriele-De Vries Syndrome
Attention deficit hyperactivity disorder, Lateral ventricle dilatation OMIM:617557
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Splenomegaly, Abnormality of skin pigmentation OMIM:133540
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder, Colpocephaly, Agenesis of c... OMIM:618820
Proteus Syndrome
Retinal nonattachment, Irregular hyperpigmentation, Thymus hyperplasia, Chorioretinal coloboma, C... ORPHA:744
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrocephalus, Colpocephaly, Dilated third ventricle, Lateral ventricle dilatation OMIM:620371
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:309801
Hardikar Syndrome
Pigmentary retinopathy, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:301068
Cancer-Associated Retinopathy
Optic atrophy, Foveal hyporeflective spaces on macular OCT, Retinal atrophy, Granular macular app... ORPHA:71505
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Aicardi Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Partial agenesis of t... OMIM:304050
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Progressi... OMIM:210710
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum OMIM:301043
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Pigmentary retinopathy, Type II diabetes mellitus, Optic disc hypoplasia ORPHA:3455
Alkaptonuria
Methemoglobinemia, Irregular hyperpigmentation, Hemolytic anemia, Abnormality of skin pigmentation ORPHA:56
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Smith-Lemli-Opitz Syndrome
Colpocephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:270400
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Social and occupational deterioration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Social and occupational deterioration ORPHA:353277
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated fourth ventricle, Dilated third ventricle OMIM:615574

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 Asns

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 Asns.

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
Asnstm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Asnstm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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