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Gene: Sgo1 MGI:1919665

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Gene Summary

Name:
shugoshin 1
Synonyms:
3300001M08Rik,  Sgol1

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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
decreased circulating HDL cholesterol level Sgo1tm1a(EUCOMM)Wtsi HET   Early adult 3.30×10-06
decreased circulating cholesterol level Sgo1tm1a(EUCOMM)Wtsi HET   Early adult 3.24×10-05
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
cataract Sgo1tm1a(EUCOMM)Wtsi HET Early adult 2.57×10-05

Download data as:  TSV  XLS

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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
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
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
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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Neoplasm, Leukemia OMIM:310465
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Trichomegaly
Cataract OMIM:190330
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Hyperferritinemia With Or Without Cataract
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract OMIM:600886
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
X-Linked Retinoschisis
Cataract ORPHA:792
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hijazi-Reis Syndrome
Astigmatism, Iris coloboma, Hyperbilirubinemia OMIM:301094
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Leukemia, Myelodysplasia OMIM:614082
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased total bilirubin OMIM:616299
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... OMIM:605724
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Gastroesophageal reflux OMIM:618097
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia OMIM:144010
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Chromosome breakage, Anal atresia OMIM:613390
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Nathalie Syndrome
Cataract OMIM:255990
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Developmental cataract OMIM:618810
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Cataract 47
Microcornea, Cataract OMIM:612018
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Leber Congenital Amaurosis 1
Keratoconus, Hyperthreoninuria, Cataract, Hyperthreoninemia OMIM:204000
Ataxia-Telangiectasia
Neoplasm, Abnormality of chromosome stability, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Immunodeficiency 54
Chromosome breakage, Lymphoproliferative disorder, Adrenocorticotropic hormone excess OMIM:609981
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Alpha-Methylacyl-Coa Racemase Deficiency
Increased phytanic acid:pristanic acid ratio, Cataract, Elevated circulating phytanic acid concen... OMIM:614307
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Chromosome breakage OMIM:615272
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents OMIM:616435
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Fanconi Anemia, Complementation Group S
Chromosome breakage, Breast carcinoma, Narrow palate, Ovarian neoplasm, Ovarian carcinoma OMIM:617883
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Galactose Epimerase Deficiency
Aminoaciduria, Cataract ORPHA:79238
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Gyrate Atrophy Of Choroid And Retina
Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract ORPHA:414
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Elevated circulating creatinine concentration OMIM:614376
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Retinitis Pigmentosa 40
Cataract OMIM:613801
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr... ORPHA:79303
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529808
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... ORPHA:529799
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Gastroesophageal reflux ORPHA:908
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Lig4 Syndrome
Abnormality of chromosome stability, Malabsorption, Cryptorchidism, Lymphoma, Acute leukemia ORPHA:99812
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Proximal Myotonic Myopathy
Cataract ORPHA:606
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Posterior embryotoxon, Increased circulating very long-chain fatty... OMIM:614887
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia OMIM:608885
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Elevated circulating creatine kinase concentration, Decreased plasma free carnitine, El... OMIM:608836
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Galactokinase Deficiency
Cataract, Increased level of galactitol in plasma, Nuclear cataract, Hypergalactosemia, Hyperchol... ORPHA:79237
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... ORPHA:85327
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Icf Syndrome
Macroglossia, Abnormality of chromosome stability, Malabsorption, Protruding tongue ORPHA:2268
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Chromoso... OMIM:620133
Galactosemia I
Cataract, Increased level of galactitol in plasma, Aminoaciduria, Hypergalactosemia, Increased le... OMIM:230400
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Pellagra-Like Syndrome
Cataract OMIM:260650
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Esophageal atresia, Patent ductus arteriosus, Tracheoesophag... OMIM:300514
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract OMIM:606069
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Ke... ORPHA:14
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents OMIM:610832
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increa... OMIM:227810
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia ORPHA:31150
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
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
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Cataract 48
Cataract OMIM:618415
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Astigmatism, Hypotriglycerid... OMIM:618885
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... OMIM:223900
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Cataract, Zonular cataract ORPHA:168577
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Aniridia 3
Aniridia, Cataract OMIM:617142
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea OMIM:613812
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Aminoaciduria OMIM:613404
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Peroxisome Biogenesis Disorder 9B
Cataract, Elevated circulating phytanic acid concentration OMIM:614879
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia OMIM:618805
Lathosterolosis
Cataract, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Opacification of th... OMIM:607330
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Generalized aminoaciduria,... OMIM:251880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Anal atresia OMIM:617244
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Squamous cell... OMIM:210900
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... ORPHA:411634
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma OMIM:613951
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleischer ring, Aminoacid... OMIM:277900
Kaufman Oculocerebrofacial Syndrome
Microcornea, Astigmatism, Hypocholesterolemia OMIM:244450
Nijmegen Breakage Syndrome
Anal stenosis, Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, An... ORPHA:647
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Fanconi Anemia, Complementation Group L
Chromosome breakage, Esophageal atresia, Chromosomal breakage induced by crosslinking agents, Tra... OMIM:614083
Papillorenal Syndrome
Cataract, Elevated circulating creatinine concentration, Lens luxation OMIM:120330
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancreatic steatosis, Cryptorchidism, Hyperechogenic... OMIM:617052
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... OMIM:603467
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Aminoaciduria OMIM:208085
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Mydriasis OMIM:259720
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Fumarase Deficiency
Conjunctival icterus, Aminoaciduria, Hyperbilirubinemia OMIM:606812
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid con... OMIM:614866
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Dubowitz Syndrome
Hypoplasia of the iris, Megalocornea, Iris coloboma, Hypocholesterolemia OMIM:223370
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Cadds
Cataract, Increased circulating very long-chain fatty acid concentration ORPHA:369942
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Leukemia... OMIM:227646
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... OMIM:600901
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Chromosomal breakage induced by crosslinki... OMIM:609053
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... OMIM:227650
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Elevated circulating creatine kinase concentration ORPHA:370997
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, Hyperbilirubinemia, Steatorrhea OMIM:557000
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Caroli Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:480520
Fanconi Anemia
Meckel diverticulum, Abnormality of chromosome stability, Aganglionic megacolon, Myelodysplasia, ... ORPHA:84
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Fructose Intolerance, Hereditary
Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Caroli Disease
Conjugated hyperbilirubinemia, Conjunctival icterus, Abnormal circulating alpha-fetoprotein conce... ORPHA:53035
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... OMIM:227645
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Developmental cataract ORPHA:163956
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Aganglionic megacolon, Malabsorption ORPHA:175
Revesz Syndrome
Abnormality of chromosome stability, Oral leukoplakia OMIM:268130
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Juvenile cataract, Cataract, Iris coloboma, Hyperbilirubinemia OMIM:619475
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Xanthelasma ORPHA:30391
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Iris atrophy, Decreased circulating cortisol level OMIM:620305
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... ORPHA:139411
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Smith-Lemli-Opitz Syndrome
Cataract, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholester... OMIM:270400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Keratoconjunctivitis, Increased erythrocyte protopo... ORPHA:79277
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Elevated circulating C-reactive protein concentration, Anterior chamber flare, Elevated... ORPHA:91500
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Conjunctival icterus, Unconjugated hyperbilirubinemia, Increased blood urea... ORPHA:447
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... ORPHA:99826
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Iris coloboma, Unconjugated hyperbilirubinemia OMIM:620186
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma ORPHA:221
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hypocalcemia, Increased VLDL cholesterol con... OMIM:243800
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

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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

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