banner
Genes Phenotypes Help, News, Blog

Gene: Uhrf1 MGI:1338889

Log in to follow

Gene Summary

Name:
ubiquitin-like, containing PHD and RING finger domains, 1
Synonyms:
ICBP90,  Np95

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 mean corpuscular volume Uhrf1tm1a(EUCOMM)Wtsi HET Early adult 6.42×10-05
increased NK cell number Uhrf1tm1a(EUCOMM)Wtsi HET Early adult 5.54×10-06
abnormal retina pigmentation Uhrf1tm1a(EUCOMM)Wtsi HET   Early adult 4.48×10-07
abnormal gait Uhrf1tm1a(EUCOMM)Wtsi HET Early adult 5.52×10-07
abnormal eye morphology Uhrf1tm1a(EUCOMM)Wtsi HET   Early adult 2.75×10-06
increased circulating aspartate transaminase level Uhrf1tm1a(EUCOMM)Wtsi HET Early adult 2.15×10-05
decreased body weight Uhrf1tm1a(EUCOMM)Wtsi HET Early adult 4.72×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Uhrf1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Uhrf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia, Gait disturbance ORPHA:1178
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:2246
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Pigmentary retinopathy, Neutropenia OMIM:266130
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia OMIM:610951
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Retinal pigment epithelial mottling, Ataxia, Optic disc pallor OMIM:619389
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Ataxia OMIM:551500
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:617613
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Small for gestational age, Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal d... ORPHA:3363
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Waddling gait, Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration OMIM:275400
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Spinocerebellar Ataxia 7
Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop... OMIM:164500
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Obesity, Ataxia OMIM:245800
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased circu... OMIM:614307
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Anemia, Abnormality of retinal pigmentation ORPHA:858
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Unsteady gait, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia ORPHA:3156
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:480
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Inability to walk, Weight loss, Pigmentary retinopathy, Tip-toe gait, Gait dis... ORPHA:216866
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased... OMIM:616050
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin conce... ORPHA:48818
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Narp Syndrome
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... ORPHA:644
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... ORPHA:96180
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... OMIM:600462
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Leber Congenital Amaurosis 1
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninemia, Attenuation of reti... OMIM:204000
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration OMIM:619473
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ambulation, Pigmentary retinopathy, Elevated circulating creatine kinase concentration ORPHA:370968
Cln3 Disease
Ataxia, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, Sh... ORPHA:228346
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep... OMIM:145350
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Loss of ambulation, Pigmentary retinopathy, Limb dysmetria, Gait imbalance ORPHA:329336
Joubert Syndrome 28
Optic disc pallor, Ataxia, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance ORPHA:96
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity ORPHA:791
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:600151
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Ramon Syndrome
Abnormality of retinal pigmentation, Failure to thrive ORPHA:3019
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Broad-based gait, Ataxia, Optic atrophy, Pigmentary reti... OMIM:609033
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Failure to thrive OMIM:618234
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Inability to walk, Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:613156
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Gait disturbance ORPHA:100996
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Inability to walk, Dysmetria, Limb at... OMIM:617675
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Lo... OMIM:617282
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy, Ataxia, Truncal ataxia OMIM:252011
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Abnormality of retin... ORPHA:14
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Verheij Syndrome
Branchial cyst, Short stature, Short neck, Growth delay, Intrauterine growth retardation OMIM:615583
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Fa... ORPHA:5
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo... ORPHA:158048
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of retinal pigmentation, Anemia ORPHA:290
Leigh Syndrome
Pigmentary retinopathy, Failure to thrive, Optic atrophy, Ataxia OMIM:256000
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Gait disturbance, Retinopathy, Ataxia ORPHA:578
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Thromb... OMIM:222300
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Ataxia ORPHA:1173
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus ORPHA:2801
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de... OMIM:615986
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Obesity ORPHA:3085
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Short stature, Webbed neck ORPHA:1131
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Failure to thrive, Anemia ORPHA:436271
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Pigmentary retinopathy, Ataxia, Weight loss ORPHA:3208
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... ORPHA:2169
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Ataxia, Gait ataxia, Pigmentary retinopathy, Gait distur... ORPHA:88628
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Immunodeficiency 54
Splenomegaly, Failure to thrive, Reduced natural killer cell count, Hyperpigmentation of the skin OMIM:609981
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia OMIM:619059
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Pantothenate Kinase-Associated Neurodegeneration
Abetalipoproteinemia, Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Choreoathetosis, Pig... ORPHA:157850
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:605231
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Failure to thrive, Ataxia, Mottled pigmentation of photoexposed areas OMIM:560000
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... OMIM:216550
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Ataxia, Obesity OMIM:612291
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Pigmentary retinopathy, Truncal ataxia, Failure to thrive, Anemia OMIM:220110
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Dysmetria, Pigmentary retinopathy, Progressive cerebellar ataxia, Dysdiadochok... ORPHA:502423
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... OMIM:617052
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Reticular hyperpigmentation, Anemia, Leukopenia, Premature graying of ha... OMIM:127550
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration ORPHA:79095
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Refsum Disease
Retinopathy, Splenomegaly, Abnormality of retinal pigmentation, Ataxia ORPHA:773
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy, Ataxia OMIM:608629
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... ORPHA:2715
Cockayne Syndrome Type 1
Ataxia, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Difficult... ORPHA:90321
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c... OMIM:615994
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity OMIM:616562
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Kearns-Sayre Syndrome
Sideroblastic anemia, Ataxia, Pigmentary retinopathy OMIM:530000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Megaloblastic anemia, Retina... ORPHA:79282
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hypoplasia of the thymus, Elevat... OMIM:214110
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... ORPHA:276
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... OMIM:301074
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Unsteady gait, Elevated circulating creatine kinase concentration, Retinal... OMIM:618733
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Intrauterine growth retardation, Branchial anomaly, Cystic hygroma ORPHA:453499
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Retinal pigment epithelial mottling OMIM:614105
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic... ORPHA:193
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Retinal pigment epithelial mottling, Dysmetria, Gait ataxia, Weight los... OMIM:607459
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Tip-toe gait, Failure to thrive in infancy, Hypocalcemia ORPHA:746
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Inability to walk, Optic atrophy, Hepatosplenomegaly, Anemia... ORPHA:505248
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Bor Syndrome
Branchial cyst ORPHA:107
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Brushfield spots, Rod-con... OMIM:614866
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count OMIM:242860
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Absent platelet dense granules, Fair hair, Decreased CD4:CD8 rati... OMIM:608233
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Holoprosencephaly
Encephalocele, Short neck, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly ORPHA:2162
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Ataxia, Hyperautofluorescent macular ... OMIM:209900
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Truncal o... OMIM:203800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Gait di... OMIM:234200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Retinal dysplasia, Optic atrophy, Elevated circulating creatine kinase co... OMIM:613154
Multiple Sulfatase Deficiency
Splenomegaly, Optic atrophy, Abnormality of retinal pigmentation ORPHA:585
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Loss of ambulation, E... OMIM:214100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Pearson Syndrome
Reticulocytosis, Pancytopenia, Small for gestational age, Hyperpigmentation of the skin, Ataxia, ... ORPHA:699
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... ORPHA:1969
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Ataxi... ORPHA:191
Lowry-Wood Syndrome
Pigmentary retinopathy, Small for gestational age OMIM:226960
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Gait disturbance ORPHA:192
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Obesity ORPHA:2235
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock, Slender build ORPHA:902
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Rod-cone dystrophy, Low plasma citrulline, Optic atrophy, Gait ataxia, Pigmentary retinop... ORPHA:255210
Melas
Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Failure to thrive, Anemia, Vitiligo ORPHA:550
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Bardet-Biedl Syndrome
Pigmentary retinopathy, Obesity ORPHA:110
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma ORPHA:2510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Prolidase Deficiency
Splenomegaly, White forelock, Abnormality of retinal pigmentation ORPHA:742
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy, Ataxia OMIM:610651
Mucopolysaccharidosis, Type Ii
Splenomegaly, Papilledema, Abnormality of retinal pigmentation, Hepatosplenomegaly OMIM:309900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Small for gestational age, Splenomegaly, Inability to... ORPHA:404454
Distal 22Q11.2 Microdeletion Syndrome
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation ORPHA:261330
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Khan-Khan-Katsanis Syndrome
Lymphopenia, Pigmentary retinopathy, Neutropenia, Failure to thrive, Anemia OMIM:618460
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia ORPHA:261250
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Hypocalcemia, Neutropenia, Failure to thrive, Anemia ORPHA:175
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Inability to walk, Tip-toe gait, Gait disturbance, Difficult... ORPHA:466768
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay ORPHA:352665
Usher Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:886
Alg3-Cdg
Neural tube defect ORPHA:79321
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Oligomeganephronia
Branchial cyst ORPHA:2260
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinopathy, Splenomegaly, ... OMIM:219800
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia, Failure ... ORPHA:411629
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Progressive vitiligo, T lymphoc... OMIM:251260
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:620133
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Cockayne Syndrome A
Retinal atrophy, Ataxia, Splenomegaly, Retinal pigment epithelial mottling, Optic atrophy, Abnorm... OMIM:216400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased... ORPHA:221139
Mucopolysaccharidosis Type 3
Ataxia, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Loss of ambulation... ORPHA:581
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxia, Hypopigmented skin pa... ORPHA:636
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Treacher-Collins Syndrome
Encephalocele, Branchial fistula ORPHA:861
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hydrocephalus, Low posterior hairline, Webbed neck ORPHA:261337
Cockayne Syndrome B
Small for gestational age, Ataxia, Splenomegaly, Optic atrophy, Abnormality of skin pigmentation,... OMIM:133540
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Trisomy 18
Abnormality of retinal pigmentation, Cachexia ORPHA:3380
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Hypopi... ORPHA:2556
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... OMIM:617718
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Intrauterine growth retardation OMIM:620186
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Dysmetria, Gait ataxia, Pigmentary retinopathy, ... OMIM:606721
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic... ORPHA:580
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Short neck, Intrauterine ... ORPHA:508488
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Decreased body weight OMIM:266270
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic... ORPHA:217085
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic... ORPHA:217093
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Hypertriglyceridemia, Patchy hypo- and hyperpigmentation, Pr... ORPHA:79474
Hardikar Syndrome
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Pigmentary retinopathy, Hyperbilirubinemia, Fail... OMIM:301068
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... ORPHA:744
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... OMIM:113620
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Alagille Syndrome 1
Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy, Hypercholesterolemia, Failur... OMIM:118450
Kikuchi-Fujimoto Disease
Ataxia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, We... ORPHA:50918
Eisenmenger Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... ORPHA:97214
Witteveen-Kolk Syndrome
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation OMIM:613406
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Optic disc hypoplasia, Ataxia, Optic atrophy, Pigmentary retinopathy, Trunc... ORPHA:3455
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Hydrocephalus OMIM:164210
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short neck, Wide anterior fontanel, Neural tube defect, Umbilical hernia ORPHA:798
Semilobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:220386
Alobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93926
Lobar Holoprosencephaly
Growth delay, Neural tube defect, Hydrocephalus, Short stature ORPHA:93924

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 Uhrf1

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 Uhrf1.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Epigenetic regulator UHRF1 orchestrates proinflammatory gene expression in rheumatoid arthritis in a suppressive manner. The Journal of clinical investigation (June 2022) Uhrf1tm1a(EUCOMM)Wtsi PMC9151705
Uhrf1 governs the proliferation and differentiation of muscle satellite cells. iScience (February 2022) Uhrf1tm1a(EUCOMM)Wtsi PMC8886052
TGF-β signaling controls Foxp3 methylation and T reg cell differentiation by modulating Uhrf1 activity. The Journal of experimental medicine (September 2019) Uhrf1tm1c(EUCOMM)Wtsi 31515281
Deletion of maternal UHRF1 severely reduces mouse oocyte quality and causes developmental defects in preimplantation embryos. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (April 2019) Uhrf1tm1c(EUCOMM)Wtsi Uhrf1tm1a(EUCOMM)Wtsi 30995416
Stella safeguards the oocyte methylome by preventing de novo methylation mediated by DNMT1. Nature (November 2018) Uhrf1tm1c(EUCOMM)Wtsi Uhrf1tm1a(EUCOMM)Wtsi Uhrf1tm1e(EUCOMM)Wtsi 30487604
Uhrf1 regulates active transcriptional marks at bivalent domains in pluripotent stem cells through Setd1a. Nature communications (July 2018) Uhrf1tm1a(EUCOMM)Wtsi PMC6030064
Uhrf1 regulates germinal center B cell expansion and affinity maturation to control viral infection. The Journal of experimental medicine (April 2018) Uhrf1tm1c(EUCOMM)Wtsi Uhrf1tm1a(EUCOMM)Wtsi 29618490
Uhrf1 is indispensable for normal limb growth by regulating chondrocyte differentiation through specific gene expression. Development (Cambridge, England) (January 2018) Uhrf1tm1c(EUCOMM)Wtsi Uhrf1tm1a(EUCOMM)Wtsi 29180567
Uhrf1 controls the self-renewal versus differentiation of hematopoietic stem cells by epigenetically regulating the cell-division modes. Proceedings of the National Academy of Sciences of the United States of America (December 2016) Uhrf1tm1c(EUCOMM)Wtsi PMC5240722
Loss of Uhrf1 in neural stem cells leads to activation of retroviral elements and delayed neurodegeneration. Genes & development (October 2016) Uhrf1tm1a(EUCOMM)Wtsi PMC5088568
Uhrf1 Controls iNKT Cell Survival and Differentiation through the Akt-mTOR Axis. Cell reports (March 2016) Uhrf1tm1c(EUCOMM)Wtsi Uhrf1tm1a(EUCOMM)Wtsi 27050515

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
Uhrf1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Uhrf1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter