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Gene: Trnt1 MGI:1917297

Gene Summary

Name:

tRNA nucleotidyl transferase, CCA-adding, 1

Synonyms:

2610044E04Rik, CGI-47, 2410043H24Rik

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	Allele	Zyg	Life Stage	P Value
increased body weight	Trnt1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	9.36×10^-11
increased circulating glucose level	Trnt1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	7.32×10^-05
decreased mean corpuscular volume	Trnt1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	2.46×10^-05
abnormal retina pigmentation	Trnt1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	4.48×10^-07
abnormal eye morphology	Trnt1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	2.75×10^-06
increased bone mineral content	Trnt1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.63×10^-05

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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 Trnt1 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.

Human diseases associated with Trnt1 (2 diseases)
Human diseases predicted to be associated with Trnt1 (482 diseases)

The table below shows human diseases associated to Trnt1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Retinitis Pigmentosa And Erythrocytic Microcytosis		Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay		Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope...	OMIM:616084

The table below shows human diseases predicted to be associated to Trnt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo...	OMIM:615990
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
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
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
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hypoglycemia	OMIM:609016
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
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
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
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
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age	OMIM:256450
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age	OMIM:601820
Bardet-Biedl Syndrome 11	Retinopathy, Obesity	OMIM:615988
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Obesity	OMIM:615991
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615995
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit...	OMIM:618858
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration	OMIM:520000
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Ramon Syndrome	Diabetes mellitus, Failure to thrive, Abnormality of retinal pigmentation, Osteolysis	ORPHA:3019
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Obesity	OMIM:615987
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Neutropenia	OMIM:266130
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hyperinsulinemia, Obes...	ORPHA:791
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Small for gestational age, Retinal degeneration	OMIM:275400
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ...	OMIM:606176
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning	OMIM:618970
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Hyperglycemia, Rod-cone dystro...	OMIM:615986
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Diabetes mellitus, Obesity, Rod-cone dystrophy	OMIM:605231
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity	ORPHA:329249
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os...	ORPHA:232
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Bardet-Biedl Syndrome 5	Macular dystrophy, Rod-cone dystrophy, Obesity	OMIM:615983
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Abnormality of bone mineral density	ORPHA:3156
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia, Overgrowth, Obesity	OMIM:620195
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Obesity	OMIM:245800
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin...	ORPHA:5
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:600151
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Summitt Syndrome	Obesity, Craniosynostosis	OMIM:272350
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity	OMIM:614662
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Congenital Toxoplasmosis	Thrombocytopenia, Failure to thrive in infancy, Anemia, Abnormality of retinal pigmentation	ORPHA:858
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Type II diabetes mellitus, Hyperinsulinemia, Obesity, Abnormality of retinal pigmentation	ORPHA:3085
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Small for gestational age, Retinal degeneration	ORPHA:3363
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona...	ORPHA:293964
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ...	ORPHA:324575
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive, Osteoporosis	OMIM:618234
Juvenile Paget Disease	Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Osteoporosis, Melanocyt...	ORPHA:2801
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ...	OMIM:617406
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Diabetes mellitus, Obesity, Retinal degeneration	OMIM:615981
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli...	ORPHA:276608
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Bardet-Biedl Syndrome 22	Rod-cone dystrophy, Macular hypopigmentation, Obesity, Large for gestational age	OMIM:617119
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Red hair, Failure...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Red hair, Failure...	ORPHA:71526
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I...	OMIM:560000
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Splenomegaly, Anemia, Type I diabetes mellitus, Thrombocytop...	ORPHA:290
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Osteoporosis, Increased body weight, Hyperglycemia	OMIM:615954
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Chromosome Xq21 Deletion Syndrome	Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration	OMIM:303110
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic...	OMIM:600462
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Diabetes mellitus, Yellow/white lesions of the retina, Retinal flecks	ORPHA:100996
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hy...	ORPHA:276580
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:616562
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Obesity, Retinal degeneration	OMIM:615982
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Pigmentary retinopa...	OMIM:222300
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Insulin resistance, Obesity	OMIM:615703
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Obesity, Reduced bone mineral density, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rickets, Glycosuria, R...	OMIM:268315
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Diabetes mellitus, Small for gestational age, Increased body weight, Epiphyseal stippling, Type I...	OMIM:274300
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Abcd Syndrome	White eyelashes, White eyebrow, Albinism, Large for gestational age, Polycythemia, Hypopigmentati...	OMIM:600501
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets	OMIM:219900
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Desmoid Tumor	Abnormality of retinal pigmentation, Osteolysis	ORPHA:873
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Hyperglycemia, Optic disc pallor, Obesity	OMIM:619737
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume	OMIM:612561
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperin...	ORPHA:276575
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Craniosynostosis	ORPHA:88643
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy	ORPHA:370968
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c...	OMIM:615994
Senior-Loken Syndrome 9	Osteopenia, Retinal dystrophy, Obesity, Macular degeneration, Rod-cone dystrophy	OMIM:616629
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph...	OMIM:609033
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight, Anemia	OMIM:614450
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull...	OMIM:216550
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia, Fa...	ORPHA:2169
Cln3 Disease	Pigmentary retinopathy, Vacuolated lymphocytes, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Diabetes mellitus	ORPHA:96
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Fasting hypoglyce...	ORPHA:263455
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:2298
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Reduc...	OMIM:617052
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
Leigh Syndrome	Pigmentary retinopathy, Failure to thrive, Optic atrophy	OMIM:256000
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy, Obesity	OMIM:612291
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Obesity	OMIM:615985
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Maternal Uniparental Disomy Of Chromosome 4	Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Decreased...	ORPHA:96180
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Rod-cone dystrophy	OMIM:268020
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Weight loss	ORPHA:216866
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Osteoporosis, Obesity	OMIM:610628
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Insulin resistance, Osteopor...	ORPHA:902
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:1496
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Retinal coloboma, Obesity	OMIM:601794
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Optic atrophy, Obesity	OMIM:614651
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia	OMIM:615812
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Pigmentary retinopathy, Hyperinsulinemic hypogly...	ORPHA:71212
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre...	ORPHA:97279
Mulibrey Nanism	Pigmentary retinopathy, Thickened cortex of long bones	OMIM:253250
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Retinal coloboma, Obesity	ORPHA:363741
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Blue Diaper Syndrome	Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio	ORPHA:94086
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Diabetes mellitus, Hypochromic microcytic...	ORPHA:48818
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Glycosuria, Failure to thrive, Anemia	ORPHA:436271
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Blue irides, Advanced ossification of carpal bones, Obesity, Red hair, Fair hair	OMIM:614613
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia	OMIM:609015
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Kearns-Sayre Syndrome	Sideroblastic anemia, Diabetes mellitus, Pigmentary retinopathy	OMIM:530000
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Alstrom Syndrome	Cone/cone-rod dystrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Truncal obesity, ...	OMIM:203800
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity	OMIM:617885
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss	ORPHA:3208
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Glycosuria, Failure to thrive, Anemia	OMIM:220110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy	OMIM:613156
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Osteoporosis, Increased body weight	OMIM:615830
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Osteoporosis, Reticular hyperpigmentation, Anemia, Leukopenia, Premature graying...	OMIM:127550
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Hyperautofluoresce...	OMIM:209900
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula...	ORPHA:1493
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Obesity, Reactive hypoglycemia	OMIM:600955
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Donohue Syndrome	Hypermelanotic macule, Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hypergly...	OMIM:246200
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic...	ORPHA:193
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Bardet-Biedl Syndrome	Pigmentary retinopathy, Obesity	ORPHA:110
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cafe-au-lait spot, Increased body weight	ORPHA:589905
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Type II diabetes mellitus, Obesity	OMIM:618620
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Refsum Disease	Retinopathy, Splenomegaly, Abnormality of retinal pigmentation	ORPHA:773
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Hypopigmentatio...	ORPHA:167
Prolidase Deficiency	Splenomegaly, White forelock, Abnormality of retinal pigmentation, Reduced bone mineral density	ORPHA:742
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retina...	ORPHA:157850
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Craniosynostosis	OMIM:175700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria	OMIM:616026
Fanconi-Bickel Syndrome	Osteopenia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Fasting hypoglycemia, Glycosu...	ORPHA:2088
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hypoplasia of the thymus, Failur...	OMIM:214110
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:2163
Necrotizing Enterocolitis	Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia...	ORPHA:391673
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Type II diabetes mellitus	ORPHA:79095
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Progressive clavicula...	OMIM:608612
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Failure to thrive, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	ORPHA:88628
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Diab...	ORPHA:79474
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Abnormality of retinal pigmentation, Hypopigmentation of the fundus,...	ORPHA:14
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Macular coloboma, Megaloblastic anemia, Retinal degeneration, Optic atrophy, Pigmen...	ORPHA:79282
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Hyperglycemia, Failure to thrive, Anemia	OMIM:609069
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Splenomegaly, Osteoporosis, Weight loss, Hyperglycemia, Generalized bronze hyp...	ORPHA:465508
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Ketotic hypoglycemia, Splenomegaly, Osteoporosis, Increased body weight, Recurrent hypoglycemia, ...	ORPHA:79240
Multiple Sulfatase Deficiency	Splenomegaly, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:585
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Failure to thrive in infancy, Hypoketotic hypoglycemia	ORPHA:746
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Type I diabetes melli...	OMIM:240300
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Neonatal hypoglycemia, Large for gestation...	ORPHA:79644
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy, Osteoporosis, Disproporti...	ORPHA:394
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge...	ORPHA:1969
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Increased body weigh...	ORPHA:264580
Micro Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma	ORPHA:2510
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:905
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Lowry-Wood Syndrome	Pigmentary retinopathy, Small for gestational age	OMIM:226960
Melas	Diabetes mellitus, Optic atrophy, Pigmentary retinopathy, Type II diabetes mellitus, Type I diabe...	ORPHA:550
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Mucopolysaccharidosis, Type Ii	Splenomegaly, Papilledema, Abnormality of retinal pigmentation, Hepatosplenomegaly	OMIM:309900
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Neutropenia, Abnormal bone os...	ORPHA:175
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Brushfield spots, Splenomegaly, Rod-cone dystrophy, Optic nerve dyspla...	OMIM:614866
Cockayne Syndrome Type 1	Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy, Failure to thrive, Anemia	ORPHA:90321
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:614520
Smith-Magenis Syndrome	Retinal detachment, Increased body weight	OMIM:182290
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Pigmentary retinopathy, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:277400
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol...	OMIM:269880
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia	ORPHA:261250
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Failure to thrive, Rickets, Glycosuria	ORPHA:411629
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Brushfield spots, Epiphyseal stippling, Pigmentary retinopathy, Failure to thrive	OMIM:214100
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Obesity, Hypoglycemic seizures	OMIM:609734
Aromatase Deficiency	Eunuchoid habitus, Osteopenia, Delayed epiphyseal ossification, Insulin resistance, Osteoporosis,...	ORPHA:91
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pr...	OMIM:248370
Beta-Ketothiolase Deficiency	Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia	ORPHA:134
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Throm...	ORPHA:505248
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Osteoporosis, Obesity, Glucose intolerance, Abdominal obesity	OMIM:219090
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Cystinosis, Nephropathic	Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Retinopathy, Splenomeg...	OMIM:219800
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Hyperpigmentation of...	ORPHA:699
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Small for gestational age, Splenomegaly, Optic atroph...	ORPHA:404454
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Spotty hypopigmentation, Increased body weight	OMIM:300860
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Khan-Khan-Katsanis Syndrome	Failure to thrive, Pigmentary retinopathy, Neutropenia, Lymphopenia, Anemia	OMIM:618460
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Diabetes mellitus, Retinal atrophy, Retin...	ORPHA:191
Cole Disease	Hyperglycemia	OMIM:615522
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Osteoporosis, Increased body weight, Abdominal obesity, Cho...	ORPHA:398069
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Optic atrophy, Retinal dysplasia	OMIM:613154
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, C...	ORPHA:636
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia	ORPHA:440713
Fanconi-Bickel Syndrome	Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to t...	OMIM:227810
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:580
Sotos Syndrome	Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Neonatal hypoglycemia	OMIM:117550
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Progressive vitiligo, T lymphoc...	OMIM:251260
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Cockayne Syndrome B	Small for gestational age, Splenomegaly, Osteoporosis, Optic atrophy, Ivory epiphyses of the phal...	OMIM:133540
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Splenomegaly, Optic atrophy, Reduced bone mineral density, Pigmentary ...	ORPHA:581
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Hyperglycemia, Failure to ...	ORPHA:99885
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Trisomy 18	Abnormality of retinal pigmentation, Cachexia	ORPHA:3380
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Cockayne Syndrome A	Retinal atrophy, Splenomegaly, Retinal pigment epithelial mottling, Optic atrophy, Ivory epiphyse...	OMIM:216400
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Hypopi...	ORPHA:2556
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling	OMIM:618733
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycemia	ORPHA:90065
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Glucose intolerance, Abdominal obesity, Osteoporosis, Increased body weight	ORPHA:189427
Gaisböck Syndrome	Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,...	ORPHA:90041
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Weight loss	OMIM:607459
Mitochondrial Dna-Associated Leigh Syndrome	Rod-cone dystrophy, Failure to thrive, Optic atrophy, Pigmentary retinopathy	ORPHA:255210
Cushing Disease	Diabetes mellitus, Impaired glucose tolerance, Optic nerve compression, Leukocytosis, Osteoporosi...	ORPHA:96253
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retinopathy, Obesity, Type I diabetes mellitus	OMIM:619269
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:217085
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Decreased body weight	OMIM:266270
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic...	ORPHA:217093
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Adrenocortical Carcinoma	Diabetes mellitus, Increased body weight, Weight loss	ORPHA:1501
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, P...	OMIM:606721
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of...	OMIM:234200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation	ORPHA:466768
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Pigmentary retinopathy, Failure to...	OMIM:301068
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus	OMIM:615710
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Rod-cone dystrophy	OMIM:124000
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Pyruvate Carboxylase Deficiency	Hyperglycemia, Failure to thrive, Hypoglycemia	ORPHA:3008
Alagille Syndrome 1	Pigmentary retinopathy, Failure to thrive, Chorioretinal atrophy	OMIM:118450
Linear Skin Defects With Multiple Congenital Anomalies 1	Pigmentary retinopathy	OMIM:309801
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy, Type II diabetes mellit...	ORPHA:3455
Leprechaunism	Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Dec...	ORPHA:508
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Obesity, Weight loss	ORPHA:79102
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Obesity	ORPHA:444077
Cushing Syndrome Due To Ectopic Acth Secretion	Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Osteoporosis, Increased body weight,...	ORPHA:99889
Heart Defects, Congenital, And Other Congenital Anomalies	Diabetes mellitus, Hyperglycemia, Failure to thrive, Glycosuria	OMIM:600001
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperglycemia, Obesity	ORPHA:293987
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Failure to thrive, Small for gestational age, Hypoglycemia	OMIM:220111
Scorpion Envenomation	Hyperglycemia, Glycosuria	ORPHA:466677
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope...	OMIM:616084
Carney Complex	Increased body weight, Abdominal obesity, Multiple lentigines, Multiple cafe-au-lait spots, Spott...	ORPHA:1359

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 Trnt1

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 Trnt1.

No publications found that use IMPC mice or data for Trnt1.

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
Trnt1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Trnt1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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