banner
Genes Phenotypes Help, News, Blog

Gene: Sgo1 MGI:1919665

Log in to follow

Gene Summary

Name:
shugoshin 1
Synonyms:
3300001M08Rik,  Sgol1

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
increased circulating creatinine level Sgo1tm1a(EUCOMM)Wtsi HET Early adult 9.29×10-12
increased circulating bilirubin level Sgo1tm1a(EUCOMM)Wtsi HET Early adult 1.55×10-05
abnormal lens morphology Sgo1tm1a(EUCOMM)Wtsi HET Early adult 3.06×10-05
decreased circulating cholesterol level Sgo1tm1a(EUCOMM)Wtsi HET   Early adult 3.24×10-05
preweaning lethality, complete penetrance Sgo1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
cataract Sgo1tm1a(EUCOMM)Wtsi HET Early adult 2.57×10-05
decreased circulating HDL cholesterol level Sgo1tm1a(EUCOMM)Wtsi HET   Early adult 3.30×10-06

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 7)
Aorta N/A heterozygote 0.0% (0 of 7)
Blood vessel N/A heterozygote 0.0% (0 of 7)
Bone N/A heterozygote 0.0% (0 of 7)
Brain N/A heterozygote 0.0% (0 of 7)
Brainstem N/A heterozygote 0.0% (0 of 7)
Brown adipose tissue N/A heterozygote 0.0% (0 of 7)
Cartilage tissue N/A heterozygote 0.0% (0 of 7)
Cerebellum N/A heterozygote 0.0% (0 of 7)
Cerebral cortex N/A heterozygote 0.0% (0 of 7)
Eye N/A heterozygote 0.0% (0 of 7)
Gall bladder N/A heterozygote 0.0% (0 of 7)
Heart N/A heterozygote 0.0% (0 of 7)
Hippocampus N/A heterozygote 0.0% (0 of 7)
Hypothalamus N/A heterozygote 0.0% (0 of 7)
Kidney N/A heterozygote 0.0% (0 of 7)
Large intestine N/A heterozygote 14.29% (1 of 7)
Liver N/A heterozygote 0.0% (0 of 7)
Lower urinary tract N/A heterozygote 0.0% (0 of 7)
Lung N/A heterozygote 0.0% (0 of 7)
Lymph node N/A heterozygote 42.86% (3 of 7)
Mammary gland N/A heterozygote 0.0% (0 of 7)
Esophagus N/A heterozygote 0.0% (0 of 7)
Olfactory lobe N/A heterozygote 0.0% (0 of 7)
Ovary N/A heterozygote 57.14% (4 of 7)
Oviduct N/A heterozygote 0.0% (0 of 7)
Pancreas N/A heterozygote 0.0% (0 of 7)
Parathyroid gland N/A heterozygote 0.0% (0 of 7)
Peripheral nervous system N/A heterozygote 0.0% (0 of 7)
Peyer's patch N/A heterozygote 71.43% (5 of 7)
Pituitary gland N/A heterozygote 0.0% (0 of 7)
Prostate gland N/A heterozygote 0.0% (0 of 7)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 7)
Skin N/A heterozygote 0.0% (0 of 7)
Small intestine N/A heterozygote 85.71% (6 of 7)
Spinal cord N/A heterozygote 0.0% (0 of 7)
Spleen N/A heterozygote 14.29% (1 of 7)
Stomach N/A heterozygote 0.0% (0 of 7)
Striatum N/A heterozygote 0.0% (0 of 7)
Testis N/A heterozygote 42.86% (3 of 7)
Thymus N/A heterozygote 85.71% (6 of 7)
Thyroid gland N/A heterozygote 0.0% (0 of 7)
Trachea N/A heterozygote 0.0% (0 of 7)
Uterus N/A heterozygote 0.0% (0 of 7)
White adipose tissue N/A heterozygote 0.0% (0 of 7)
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.

Phenotype associated images not available

Human diseases caused by Sgo1 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 Sgo1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chronic Atrial And Intestinal Dysrhythmia
Intestinal pseudo-obstruction OMIM:616201

The table below shows human diseases predicted to be associated to Sgo1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Rotor Syndrome
Conjunctival icterus, Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Developmental cataract, Decreased H... OMIM:616834
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cataract 42
Cataract, Developmental cataract OMIM:115900
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
N Syndrome
Leukemia, Abnormality of chromosome stability, Cryptorchidism, Neoplasm OMIM:310465
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
X-Linked Retinoschisis
Cataract ORPHA:792
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Nathalie Syndrome
Cataract ORPHA:2663
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Trichomegaly
Cataract OMIM:190330
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Hijazi-Reis Syndrome
Hyperbilirubinemia, Iris coloboma, Astigmatism OMIM:301094
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Fanconi Anemia, Complementation Group G
Leukemia, Abnormality of chromosome stability, Myelodysplasia OMIM:614082
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Alaninuria, Hyperglutaminuria OMIM:616299
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, T-cell acute lymphoblastic leukemias, Chromosomal breakage ... OMIM:605724
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Gastroesophageal reflux, Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Fanconi Anemia, Complementation Group O
Chromosome breakage, Anal atresia, Cryptorchidism, Rectal atresia OMIM:613390
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Developmental cataract OMIM:618810
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Nathalie Syndrome
Cataract OMIM:255990
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Hyperthreoninemia, Cataract OMIM:204000
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Cataract 47
Cataract, Microcornea OMIM:612018
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia OMIM:235555
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... OMIM:618156
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614307
Immunodeficiency 54
Adrenocorticotropic hormone excess, Chromosome breakage, Lymphoproliferative disorder OMIM:609981
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Esophageal atresia, Anteriorly placed anus OMIM:615272
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Ataxia-Telangiectasia
Abnormality of chromosome stability, Neoplasm, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Cataract OMIM:614376
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Maternal hyperphenylalaninemia, Hyp... OMIM:261600
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Hyperornithinemia, Subcapsular cataract ORPHA:414
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Narrow palate, Ovarian neoplasm, Breast carcinoma OMIM:617883
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Galactose Epimerase Deficiency
Aminoaciduria, Cataract ORPHA:79238
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529799
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Retinitis Pigmentosa 40
Cataract OMIM:613801
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentr... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Lathosterolosis
Cataract, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia OMIM:604278
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Posterior embryotoxon, Conjugated... OMIM:614887
Galactokinase Deficiency
Cataract, Nuclear cataract, Hypercholesterolemia, Increased level of galactitol in plasma, Hyperg... ORPHA:79237
Proximal Myotonic Myopathy
Cataract ORPHA:606
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased pla... OMIM:608836
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Galactosemia I
Increased level of galactitol in red blood cells, Cataract, Aminoaciduria, Increased level of gal... OMIM:230400
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Oral leukoplakia, Pancolitis, Chromosomal breakage induced b... OMIM:620133
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Peroxisome Biogenesis Disorder 7A (Zellweger)
Elevated circulating tetracosanoic acid concentration, Elevated circulating hexacosanoic acid con... OMIM:614872
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Hyperbilirubinemia, Increased serum bile acid concentrat... OMIM:227810
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Patent ductus arteriosus, Tracheoesophageal fistula, Esophag... OMIM:300514
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Elevated circulating creatinine concentration, Corneal ulceration, In... OMIM:223900
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism, Gastroesophageal reflux ORPHA:908
Hemochromatosis, Type 4
Cataract, Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:606069
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Astigmatism, Decreased HDL cholesterol concentra... OMIM:618885
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Conjugated hyperbilirubinemia, Zonular cataract ORPHA:168577
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Cataract 48
Cataract OMIM:618415
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Peroxisome Biogenesis Disorder 9B
Elevated circulating phytanic acid concentration, Cataract OMIM:614879
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Cryptorchidism, Lymphoma ORPHA:99812
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Aniridia 3
Cataract, Aniridia OMIM:617142
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hyperbilirubinemia OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Conjugated hyperbilirubinemia OMIM:613404
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... ORPHA:96180
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Azoospermia, Cryptorchidism, ... OMIM:210900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Gastrointestinal Stromal Tumor
Neurofibroma, Gastrointestinal stroma tumor, Dysphagia, Intestinal obstruction OMIM:606764
Fanconi Anemia, Complementation Group R
Anal atresia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract OMIM:618805
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Elevated circulating c... ORPHA:411634
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Icf Syndrome
Macroglossia, Abnormality of chromosome stability, Protruding tongue ORPHA:2268
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Elevated circulating alpha-fetopr... OMIM:251880
Fanconi Anemia, Complementation Group N
Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... OMIM:610832
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Papillorenal Syndrome
Elevated circulating creatinine concentration, Lens luxation, Cataract OMIM:120330
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Microcornea, Astigmatism OMIM:244450
Nijmegen Breakage Syndrome
Anal stenosis, Abnormality of chromosome stability, Acute leukemia, Glioma, Lymphoma, Neoplasm, B... ORPHA:647
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Fumarase Deficiency
Aminoaciduria, Conjunctival icterus, Hyperbilirubinemia OMIM:606812
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa... ORPHA:97286
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Aminoaciduria, Conjugated hyperbilirubinemia OMIM:208085
Fanconi Anemia, Complementation Group L
Chromosome breakage, Tracheoesophageal fistula, Chromosomal breakage induced by crosslinking agen... OMIM:614083
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents, Cryptorchidism OMIM:613951
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Bone Marrow Failure Syndrome 3
Chromosome breakage, Cryptorchidism, Hyperechogenic pancreas, Acute myeloid leukemia, Pancreatic ... OMIM:617052
Cadds
Increased circulating very long-chain fatty acid concentration, Cataract ORPHA:369942
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Aminoaciduria, Kayser-Fleischer ring, Hyperbil... OMIM:277900
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Steatorrhea OMIM:212065
Fanconi Anemia, Complementation Group F
Duodenal atresia, Decreased response to growth hormone stimulation test, Cryptorchidism, Chromoso... OMIM:603467
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Elevated circulating phytanic acid concentration, Opacification of the corneal stroma, ... OMIM:614866
Dubowitz Syndrome
Hypocholesterolemia, Iris coloboma, Hypoplasia of the iris, Megalocornea OMIM:223370
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Neuroblastoma, Gastrointestinal stroma tumor, Adrenal pheochromocytoma, Paraganglio... OMIM:115310
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Chromosomal breakage induced by crosslinki... OMIM:609053
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Caroli Syndrome
Conjunctival icterus, Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Cryptorchidism, Trac... OMIM:227646
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Punctate keratitis, Hyperbilirubinemia OMIM:557000
Fanconi Anemia, Complementation Group E
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... OMIM:600901
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Fanconi Anemia
Abnormality of chromosome stability, Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duoden... ORPHA:84
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... ORPHA:85450
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Elevated circulating creatine kinase concentration ORPHA:370997
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Fanconi Anemia, Complementation Group A
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... OMIM:227650
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Caroli Disease
Conjunctival icterus, Conjugated hyperbilirubinemia ORPHA:53035
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Developmental cataract ORPHA:163956
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Fanconi Anemia, Complementation Group C
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... OMIM:227645
Reynolds Syndrome
Steatorrhea, Hyperbilirubinemia, Calcinosis OMIM:613471
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Abnormality of chromosome stability ORPHA:175
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Hyperbilirubinemia, Iris coloboma, Juvenile cataract OMIM:619475
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia, Iris atrophy OMIM:620305
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Meningioma
Secondary growth hormone deficiency, Neoplasm of the skin, Neurofibroma, Increased circulating pr... ORPHA:2495
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Reduced haptoglobin level, Keratoconjunctivitis, Un... ORPHA:79277
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Traboulsi Syndrome
Cataract, Homocystinuria, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Ca... OMIM:270400
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia, Cataract ORPHA:469
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Cataract, Posterior synechiae of the anterior chamber, Elevated circulating creati... ORPHA:91500
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Mednik Syndrome
Increased circulating very long-chain fatty acid concentration, Cataract OMIM:609313
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Carney Triad
Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tu... ORPHA:139411
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Liver Disease, Severe Congenital
Aminoaciduria, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hy... OMIM:619991
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Conjunctival icterus, Reduced haptoglobin level, Increa... ORPHA:447
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjunctivitis, Conjugated hyperbilirubinemia OMIM:620376
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Iris coloboma OMIM:620186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Common Variable Immunodeficiency
Anal atresia, Lymphoma, Gastrointestinal stroma tumor ORPHA:1572
17Q11 Microdeletion Syndrome
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... ORPHA:97685
Johanson-Blizzard Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol con... OMIM:243800
Dermatomyositis
Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Dysphagia, Breast carcinoma ORPHA:221
Chronic Atrial And Intestinal Dysrhythmia
Intestinal pseudo-obstruction OMIM:616201

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 Sgo1

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 Sgo1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
GSK3-ARC/Arg3.1 and GSK3-Wnt signaling axes trigger amyloid-β accumulation and neuroinflammation in middle-aged Shugoshin 1 mice. Aging cell (August 2020) Sgo1tm1a(EUCOMM)Wtsi PMC7576275
"Amyloid-beta accumulation cycle" as a prevention and/or therapy target for Alzheimer's disease. Aging Cell (January 2020) Sgo1tm1a(EUCOMM)Wtsi PMC7059149
Dataset of Sgo1 expression in cardiac, gastrointestinal, hepatic and neuronal tissue in mouse. Data in brief (July 2017) Sgo1tm1a(EUCOMM)Wtsi PMC5512188
Characterization of Sgo1 expression in developing and adult mouse. Gene expression patterns : GEP (April 2017) Sgo1tm1a(EUCOMM)Wtsi 28465207

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
Sgo1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sgo1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sgo1tm47338(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter