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Gene: Slc30a8 MGI:2442682

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Gene Summary

Name:
solute carrier family 30 (zinc transporter), member 8
Synonyms:
ZnT-8,  ZnT8,  C820002P14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina pigmentation Slc30a8tm1a(KOMP)Wtsi HOM   Early adult 5.96×10-05
increased circulating alanine transaminase level Slc30a8tm1a(KOMP)Wtsi HOM Early adult 9.15×10-06
increased circulating aspartate transaminase level Slc30a8tm1a(KOMP)Wtsi HOM Early adult 1.92×10-08
abnormal retina morphology Slc30a8tm1a(KOMP)Wtsi HOM   Early adult 6.21×10-05
increased circulating alkaline phosphatase level Slc30a8tm1a(KOMP)Wtsi HOM   Early adult 1.08×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

10 Images

View images
Legacy Phenotype Associated Images
Slc30a8tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Slc30a8tm1a(KOMP)Wtsi
forearm, HOM, Male, WTSI
Slc30a8tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Slc30a8tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Slc30a8tm1a(KOMP)Wtsi
head, HOM, Male, WTSI

View all 87 images

Slc30a8tm1a(KOMP)Wtsi
eye, HOM, Female, WTSI
Slc30a8tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Slc30a8 mutations

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

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

The table below shows human diseases associated to Slc30a8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853

The table below shows human diseases predicted to be associated to Slc30a8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Ele... ORPHA:79230
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:617613
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Neonatal Hemochromatosis
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... ORPHA:446
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepatic cholestasis,... OMIM:617093
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Increased C-peptide level, Large for gestational age, Episodic hyperhidrosis, Hyper... ORPHA:276575
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance ORPHA:75563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Episodic h... ORPHA:276580
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
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 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Episodic hyperhidrosis, Large for... ORPHA:276556
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... OMIM:603358
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fibrosis, Hepat... ORPHA:541423
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
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
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conc... OMIM:201100
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
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
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
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 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep... OMIM:145350
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Leber Congenital Amaurosis 1
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninemia, Attenuation of reti... OMIM:204000
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Essential Fructosuria
Hyperglycemia ORPHA:2056
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circula... ORPHA:89842
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... ORPHA:140286
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Slc39A8-Cdg
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration, Failure to thrive ... ORPHA:468699
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu... ORPHA:263455
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Alpha-Methylacyl-Coa Racemase Deficiency
Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased circulating v... OMIM:614307
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Lysinuric Protein Intolerance
Hyperalaninemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyp... ORPHA:470
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:619473
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... ORPHA:465508
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal fibrosis, Hepatic fibrosis, Inc... OMIM:616278
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Elevated circulating creatine kinase concentration ORPHA:370968
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Aceruloplasminemia
Increased circulating ferritin concentration, Diabetes mellitus, Aceruloplasminemia, Decreased se... OMIM:604290
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus ORPHA:2801
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... ORPHA:231222
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulati... OMIM:235200
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
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... ORPHA:2126
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Congenital Disorder Of Glycosylation, Type Iiq
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... OMIM:617395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:613156
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Cholestasis, Severe failure to thrive, Hepatic fibrosis, Pa... OMIM:246200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... ORPHA:766
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia OMIM:619059
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... ORPHA:435934
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... ORPHA:848
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub... OMIM:615710
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Hypogonad... ORPHA:300298
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular carcinoma, Hy... ORPHA:231226
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... ORPHA:681
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Decreased serum iron, Overweight, Failure to thrive, Hypothyroidism ORPHA:391372
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Aceruloplasminemia
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased... ORPHA:48818
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceride... ORPHA:2088
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... ORPHA:231214
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... ORPHA:93111
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
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
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph... OMIM:609033
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Elevated circulating creatine kinase concentration ORPHA:79095
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
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
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Pigmentary retinopathy, Elevated circulating cr... OMIM:609015
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
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
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Porphyria Cutanea Tarda
Viral hepatitis, Decreased circulating hepcidin concentration, Diabetes mellitus, Hepatocellular ... ORPHA:101330
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Fail... OMIM:614602
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease... ORPHA:96180
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Pigmentary retinopathy OMIM:600462
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration OMIM:121270
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Retinal pigment epithelial mottling OMIM:614105
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentrati... ORPHA:79408
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia OMIM:615453
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:151660
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... ORPHA:363400
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron OMIM:212050
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Hyperinsulinemic hypoglycem... ORPHA:79319
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... ORPHA:1493
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Elevated circulating creatine kinase concentration, Retinal pigment epithe... OMIM:618733
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Hypergl... ORPHA:99885
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, Mildly elevated creatine kinase ORPHA:502423
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Hypokalemia, Hypergalacto... OMIM:227810
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Elevated circulating creatine kinase concentration OMIM:617675
Familial Benign Copper Deficiency
Decreased circulating copper concentration ORPHA:1551
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio... OMIM:276700
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Insulin res... ORPHA:528
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Splenomegaly, Abnormality of the pancreas, Jaundice, Cho... OMIM:222470
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancrea... OMIM:609069
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Elevated circulating long chain fatty acid concentration, Optic nerve dysplasia... OMIM:214110
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... OMIM:226980
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating copper concentration, Sp... OMIM:300972
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... ORPHA:14
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Short Syndrome
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... OMIM:269880
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Alstrom Syndrome
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pigmentar... OMIM:203800
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Failur... ORPHA:3008
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Pantothenate Kinase-Associated Neurodegeneration
Abetalipoproteinemia, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flec... ORPHA:157850
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma ORPHA:2510
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia... OMIM:277900
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Chédiak-Higashi Syndrome
Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypertriglycerid... ORPHA:167
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... OMIM:248370
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Optic atrophy, Hyperammonemia, Eleva... ORPHA:79282
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy ORPHA:585
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy OMIM:222300
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:192
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Splenomegaly, Abnormality of the liver, Hypoplasia of th... ORPHA:84064
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia ORPHA:746
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Elevated c... OMIM:614866
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... ORPHA:193
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:267000
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Cockayne Syndrome Type 1
Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule, Increased blood urea nitrogen ORPHA:90321
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Pigmentary reti... OMIM:277400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Optic atrophy, Hypoalbuminemia ORPHA:505248
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Elevated circulating long chain fatty acid concentration, Pigmentary retinopath... OMIM:214100
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia ORPHA:440713
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Mildly elevated creatine kinase OMIM:607459
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Freckling, Optic atrophy OMIM:610651
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... ORPHA:191
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Leprechaunism
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperald... ORPHA:508
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Mitochondrial Dna-Associated Leigh Syndrome
Low plasma citrulline, Optic atrophy, Pigmentary retinopathy, Hyperalaninemia, Rod-cone dystrophy ORPHA:255210
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat... ORPHA:91500
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Hypocalcemia ORPHA:175
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial ... OMIM:219800
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... OMIM:613327
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Decreased LDL cholesterol concentratio... ORPHA:404454
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Recur... OMIM:124000
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... ORPHA:2556
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... OMIM:608594
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:580
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... OMIM:269700
Melas
Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:581
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation ORPHA:466768
Pearson Syndrome
Hypomagnesemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalanine... ORPHA:699
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglyce... OMIM:600001
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217093
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Increased circulating creatine... ORPHA:466677
Cockayne Syndrome A
Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of skin pigmenta... OMIM:216400
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating leptin concentra... ORPHA:79474
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob... ORPHA:373
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo OMIM:251260
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Greenberg Dysplasia
Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly OMIM:215140
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron OMIM:616959
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin OMIM:234200
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... ORPHA:744
Cockayne Syndrome B
Abnormality of skin pigmentation, Pigmentary retinopathy, Optic atrophy OMIM:133540
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Hardikar Syndrome
Pigmentary retinopathy, Hyperbilirubinemia OMIM:301068
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity ORPHA:444077
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy OMIM:606721
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets, Microvesicular ... OMIM:220111
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Jaundice, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, G... ORPHA:447
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Hypertriglyceridemia, Optic disc hypoplasia, Pigmentary retinopathy ORPHA:3455
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the... ORPHA:438213
Wrinkly Skin Syndrome
Failure to thrive, High nonceruloplasmin-bound serum copper ORPHA:2834
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatoblastoma OMIM:312870
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318

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.

Phenotype Allele Zygosity Sex Life Stage
Lymph node - MPATH diagnostic term lymphoid neoplasms Slc30a8tm1a(KOMP)Wtsi HOM Early adult
Lymph node - hyperplasia Slc30a8tm1a(KOMP)Wtsi HOM Early adult
Lymph node - neoplasm Slc30a8tm1a(KOMP)Wtsi HOM Early adult
Eye with optic nerve - developmental dysplasia Slc30a8tm1a(KOMP)Wtsi HOM Early adult
Eye with optic nerve - developmental and structural abnormality Slc30a8tm1a(KOMP)Wtsi HOM Early adult

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 Slc30a8.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Slc30a8tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Slc30a8tm1a(KOMP)Wtsi PMC6459510

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
Slc30a8tm42535(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc30a8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Slc30a8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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