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Gene: Cdc42 MGI:106211

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Gene Summary

Name:
cell division cycle 42
Synonyms:
N/A

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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
increased circulating HDL cholesterol level Cdc42tm1b(EUCOMM)Hmgu HET Early adult 1.45×10-05
abnormal retina morphology Cdc42tm1b(EUCOMM)Hmgu HET Early adult 1.65×10-09
enlarged kidney Cdc42tm1b(EUCOMM)Hmgu HET Early adult 0.00
corneal opacity Cdc42tm1b(EUCOMM)Hmgu HET   Early adult 6.21×10-05
decreased circulating serum albumin level Cdc42tm1b(EUCOMM)Hmgu HET Early adult 3.80×10-07
preweaning lethality, complete penetrance Cdc42tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Cdc42tm1b(EUCOMM)Hmgu HOM   E12.5 0.00
increased circulating alkaline phosphatase level Cdc42tm1b(EUCOMM)Hmgu HET Early adult 6.12×10-07
increased circulating cholesterol level Cdc42tm1b(EUCOMM)Hmgu HET Early adult 1.48×10-06
embryonic lethality prior to organogenesis Cdc42tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
increased circulating aspartate transaminase level Cdc42tm1b(EUCOMM)Hmgu HET Early adult 1.76×10-07
abnormal cranium morphology Cdc42tm1b(EUCOMM)Hmgu HET Early adult 1.06×10-05

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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 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (3 of 3)
Ear N/A heterozygote 33.33% (1 of 3)
Embryo N/A heterozygote 100% (3 of 3)
Eye N/A heterozygote 100% (3 of 3)
Footplate N/A heterozygote 33.33% (1 of 3)
Forebrain N/A heterozygote 100% (3 of 3)
Forelimb N/A heterozygote 100% (3 of 3)
Handplate N/A heterozygote 33.33% (1 of 3)
Head N/A heterozygote 100% (3 of 3)
Heart N/A heterozygote 33.33% (1 of 3)
Hindbrain N/A heterozygote 100% (3 of 3)
Hindlimb N/A heterozygote 100% (3 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Lung N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A heterozygote 33.33% (1 of 3)
Midbrain N/A heterozygote 100% (3 of 3)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 100% (3 of 3)
Tail N/A heterozygote 100% (3 of 3)

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%
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%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

25 Images

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Echo

M-Mode Images

32 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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Human diseases caused by Cdc42 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 Cdc42 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Optic atrophy OMIM:616737
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Optic atrophy ORPHA:487796

The table below shows human diseases predicted to be associated to Cdc42 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... OMIM:614196
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Nephrotic Syndrome, Type 3
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Proteinuria, Nephrotic syndrome OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... OMIM:616730
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hepatic Lipase Deficiency
Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... OMIM:256300
Diarrhea 13
Hypoalbuminemia OMIM:620357
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Lcat Deficiency
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... ORPHA:650
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c... OMIM:616828
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... ORPHA:1473
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... ORPHA:656
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Reni Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:617575
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract, Hepatomegaly OMIM:618805
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... ORPHA:64753
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:618347
Alg1-Cdg
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Dermoids Of Cornea
Corneal opacity OMIM:304730
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... OMIM:217800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Hepat... OMIM:612526
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Galactokinase Deficiency
Cataract, Nuclear cataract, Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactit... ORPHA:79237
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circulating ferrit... OMIM:616050
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Keratoconus, Increased serum bile acid concentration, Conjunctivitis, Decreased ... OMIM:242150
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ... OMIM:245900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Citrullinemia Type Ii
Hypoalbuminemia, Enuresis, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperam... ORPHA:247585
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Corneal opacity, Decreased HDL cholesterol concentration ORPHA:79292
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Proximal tubulopathy, Renal cyst, Hepatomegaly, Steatorrhea OMIM:602579
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia OMIM:608776
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Retin... OMIM:613153
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentrati... OMIM:608836
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly OMIM:209950
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Proteinuria, Increased blood urea nitrogen, Membranop... ORPHA:251004
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid... OMIM:232200
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Liver Failure, Infantile, Transient
Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti... OMIM:613070
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Chorioretinal hypopigmentation, O... OMIM:617303
Mpi-Cdg
Hypoalbuminemia, Hepatomegaly ORPHA:79319
Leishmaniasis
Hypoalbuminemia, Hepatomegaly, Splenomegaly ORPHA:507
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Winchester Syndrome
Corneal opacity OMIM:277950
Immunodeficiency 32B
Hypoalbuminemia, Hepatomegaly, Splenomegaly OMIM:226990
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Hypert... ORPHA:158061
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Morquio Syndrome C
Corneal opacity OMIM:252300
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... ORPHA:567546
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Hypoalbuminemia OMIM:308240
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Xanthelasma, Decreased glomerular filtration rate, Hyperlipid... OMIM:232220
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels, Renal ins... OMIM:610965
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Opacification of the corneal e... OMIM:270200
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Renal steatosis, Hype... ORPHA:412
Walker-Warburg Syndrome
Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Abnorma... ORPHA:899
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Hepatomegaly OMIM:608104
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
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokale... OMIM:604278
Smith-Magenis Syndrome
Abnormality of the urinary system, Abnormal renal morphology, Retinal detachment, Hypercholestero... OMIM:182290
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Thickened glomerular basement membrane, Optic atrophy, Recurrent urinary tract i... OMIM:619487
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocholesterolemia, Abnorm... ORPHA:14
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... OMIM:210250
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hepatos... OMIM:603553
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals, Abnormal retinal morphology OMIM:219750
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Elevate... ORPHA:454836
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... OMIM:254900
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplicated collecting syst... OMIM:617093
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... OMIM:604229
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia... ORPHA:540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... ORPHA:1667
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Sialidosis Type 2
Nephropathy, Abnormal macular morphology, Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:87876
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Left ... OMIM:205400
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Retinopathy, Renal tubular dysfunction, Hypokale... ORPHA:213
Neuhauser Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia, Retinal detachment, Iri... OMIM:249310
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Hematuria OMIM:617021
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Focal segmental glomerulosclerosis, Optic atrophy, Hypoplasia of the i... OMIM:251300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Laron Syndrome
Hypoplasia of penis, Hypercholesterolemia ORPHA:633
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Proximal tubulopathy, Hypocholesterolemia, Proteinuria, Renal cyst, Rod-cone dys... OMIM:212065
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Astigmatism, Proteinuria, Papilledema, Hypercholesterolemia, Rod-con... OMIM:619471
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, 3-Methylglutaconic aciduria, Hyperalaninemia, Chorioretinal hyper... OMIM:618329
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Smith-Magenis Syndrome
Microcornea, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypercholesterolemia, Retinal d... ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbili... OMIM:619662
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hepatomegaly, Hypoproteinemia OMIM:226300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Developmental cataract, Corneal opacity OMIM:618815
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Generalized Pustular Psoriasis
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive... ORPHA:247353
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Microcornea, Band keratopathy, Renal hypoplasia, Pi... OMIM:118450
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Abnormal circulating protein concentration, Abnormal circulating albumin conc... ORPHA:86839
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatomegaly, Hepatosplenomegaly ORPHA:367
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly ORPHA:64743
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia ORPHA:263501
Al Amyloidosis
Hypoalbuminemia, Renal insufficiency, Proteinuria, Increased circulating NT-proBNP concentration,... ORPHA:85443
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Hypercholesterolemia, Abnormal a... ORPHA:2479
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Nephrotic syndrome, Heparan sulfate excretion in urine, Hepatospl... ORPHA:505248
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu... ORPHA:91495
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Abnormality of retinal pigmentation, Corn... ORPHA:290
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Corneal arcus, E... ORPHA:168569
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Cornea... OMIM:166300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Eleva... OMIM:251880
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Glomerulonephritis,... ORPHA:470
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... OMIM:617729
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Hypercholesterolemia, Hepatomegaly OMIM:620454
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly, ... OMIM:278000
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia ORPHA:401923
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Astigmatism, Elevated circulating creatine kinase concentration, Hydroneph... OMIM:301056
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Aminoaciduria, Glycosuria, Kayser-Fleischer ri... OMIM:277900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, 4-Hydroxyphenylpyruvic aciduria, Hyperty... OMIM:617156
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hepatomegal... ORPHA:186
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Xanthelasma, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nep... ORPHA:79259
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypotriglyceridemia, Ectopia pupillae, Retinal thinning, Macular atrophy, Abnormality of retinal ... ORPHA:85167
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Alg12-Cdg
Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Retinal detachment, Micropenis, Hypospadias ORPHA:79324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Peters anomaly, Megalocornea, Elevated circulating creatine kinase conce... OMIM:236670
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Sialidosis Type 1
Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Cherry red spot of the... ORPHA:812
Harel-Yoon Syndrome
Optic atrophy, Developmental cataract, Corneal opacity OMIM:617183
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney OMIM:235510
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Splenomegaly, Elevated circulating creatine kinase concentration, Myoglob... ORPHA:79240
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Renal insufficiency, Hyponatremia, Heterochromia iridis... ORPHA:1764
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma,... OMIM:615145
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decre... ORPHA:425
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Galactosuria, Sple... OMIM:222470
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Corneal opacity ORPHA:281090
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Nephrotic syndrome, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circul... ORPHA:37042
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Megalocornea, Splenomegaly, Cardiomegaly, Mucopolysaccharidu... OMIM:252500
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Hypoplasia of the fov... ORPHA:93400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, 3-Methylglutaconic aciduria, Corneal opacity, Optic nerve hypoplasia ORPHA:496790
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hype... ORPHA:90041
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Splenomegaly, Elevated circulating creatine kinase concentration, Myoglob... ORPHA:264580
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... OMIM:607364
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipid concentra... ORPHA:2298
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Visceromegaly, Cherry red spot of the macula, Hepatosplenomegaly, Abnorm... ORPHA:93399
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Zellweger Syndrome
Cataract, Multicystic kidney dysplasia, Optic atrophy, Hydronephrosis, Posterior embryotoxon, Cor... ORPHA:912
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Retinopathy, Retinal degeneration, Mucopolysacchariduria, He... OMIM:252600
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Alpha-Mannosidosis
Hepatomegaly, Cataract, Splenomegaly, Corneal opacity ORPHA:61
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating cortico... ORPHA:556037
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Splenomegaly, Abnormality of retinal pigmentation, Mucopolysacchariduria... ORPHA:585
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Corneal opacity ORPHA:93476
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... ORPHA:1830
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Corne... OMIM:309000
Hypercholesterolemia, Familial, 1
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cataract, Renal hypoplasia, Unilateral renal agenesis, Renal agenesis, Hypochole... OMIM:270400
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Leprechaunism
Nephrocalcinosis, Long penis, Hyperaldosteronism, Hypokalemia, Hypercalciuria, Enlarged ovaries, ... ORPHA:508
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic nerve... OMIM:214110
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating cortico... ORPHA:556030
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Astigmatism, Nephroblasto... ORPHA:500095
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Fabry Disease
Nephropathy, Cataract, Optic atrophy, Abnormal circulating lipid concentration, Hyperlipidemia, R... ORPHA:324
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia ORPHA:90065
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly... OMIM:208540
Alpha-Mannosidosis, Adult Form
Cataract, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Optic disc pallor ORPHA:309288
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chorioretinal dysplasi... ORPHA:534
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Cherry red spot of the macula OMIM:230650
Lymphoid Interstitial Pneumonia
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney ORPHA:79128
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Retinopath... OMIM:219900
Sanjad-Sakati Syndrome
Hyperphosphatemia, Astigmatism, Hypocalcemia, Corneal opacity, Hypoplasia of penis ORPHA:2323
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ... OMIM:614748
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria, Corneal opacity ORPHA:1765
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia, Corneal opacity OMIM:163200
Mucolipidosis Iii Gamma
Mucopolysacchariduria, Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Left ventricular hypertrophy, Corn... ORPHA:31150
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Infantile Nephropathic Cystinosis
Aminoaciduria, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Glycosuria, ... ORPHA:411629
Multiple Sulfatase Deficiency
Splenomegaly, Retinal degeneration, Mucopolysacchariduria, Corneal opacity, Hepatomegaly OMIM:272200
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal thinning, Mac... OMIM:608940
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Bilateral renal hypoplasia, H... OMIM:243605
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypopigmentation of the fundus, Ectopia pupillae, Hypoplasia of the iris, Retinal ar... OMIM:175780
Bartsocas-Papas Syndrome
Renal hypoplasia/aplasia, Popliteal pterygium, Corneal opacity ORPHA:1234
Scheie Syndrome
Retinal degeneration, Corneal opacity OMIM:607016
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Kawasaki Disease
Hypoalbuminemia, Sterile pyuria, Conjunctival hyperemia, Proteinuria, Elevated circulating C-reac... ORPHA:2331
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Primary Sclerosing Cholangitis
Hypoalbuminemia, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly ORPHA:171
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity ORPHA:93474
Lysosomal Acid Lipase Deficiency
Hypernatriuria, Abnormal urine potassium concentration, Xanthelasma, Hepatosplenomegaly, Hyponatr... ORPHA:275761
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Galactosialidosis
Visceromegaly, Cherry red spot of the macula, Hepatosplenomegaly, Conjunctival telangiectasia, Op... OMIM:256540
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... ORPHA:79328
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Hurler Syndrome
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Sple... OMIM:607014
Gm1 Gangliosidosis
Optic atrophy, Cherry red spot of the macula, Retinopathy of prematurity, Hepatosplenomegaly, Spl... ORPHA:354
Al-Gazali Syndrome
Sclerocornea, Hydronephrosis, Corneal opacity OMIM:609465
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Abnormality of the urinary system, Ureteral stenosis, Ocular alb... ORPHA:2719
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Recurrent urinary tract infections OMIM:613658
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cataract, Enlarged kidney OMIM:261740
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Ogden Syndrome
Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarge... OMIM:300855
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Astigmatism, Hydronephrosis, Renal cyst, Retinal detachme... ORPHA:464311
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Developmental cataract, Corneal opacity OMIM:616603
Prader-Willi Syndrome
Micropenis, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in urine, Corneal op... OMIM:607015
Wagro Syndrome
Cataract, Aniridia, Nephroblastoma, Proteinuria, Corneal opacity OMIM:612469
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Pigmentary retinopathy, Optic atrophy, Elevated circulating phytanic acid ... OMIM:614866
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome, Opacification of the corneal stroma OMIM:215250
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Immunodeficiency 47
Hepatomegaly, Decreased circulating copper concentration, Hypercholesterolemia, Splenomegaly OMIM:300972
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Farber Disease
Macular degeneration, Cherry red spot of the macula, Hepatosplenomegaly, Corneal opacity, Opacifi... ORPHA:333
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Astigmatism, Enlarged kidney OMIM:615873
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea, Hypoplasia of penis ORPHA:284160
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Hor... ORPHA:2092
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Corneal opacity ORPHA:349
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Increased circulating ferritin concentration, Hy... OMIM:619534
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration OMIM:210370
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan sulfate excre... OMIM:615273
Mucopolysaccharidosis, Type Ivb
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Corneal opacity, Hepa... OMIM:253010
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mucolipidosis Type Iii Alpha/Beta
Keratan sulfate excretion in urine, Right ventricular hypertrophy, Oligosacchariduria, Corneal op... ORPHA:423461
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Mucopolysaccharidosis Type 3
Cataract, Pigmentary retinopathy, Optic atrophy, Heparan sulfate excretion in urine, Urinary glyc... ORPHA:581
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Hydronephro... OMIM:214100
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Lipodystrophy, Familial Partial, Type 7
Cataract, Pigmentary retinopathy, Hypercholesterolemia, Polyuria, Developmental cataract, Hypertr... OMIM:606721
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Corneal opacity OMIM:620469
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Corneal opacity, Hypoplasia of penis, Ren... ORPHA:99776
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior ... OMIM:612582
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Mucopolysaccharidosis Type 1
Optic atrophy, Retinopathy, Splenomegaly, Mucopolysacchariduria, Corneal opacity ORPHA:579
Incontinentia Pigmenti
Cataract, Keratitis, Retinal vascular proliferation, Retinal detachment, Corneal opacity, Retinal... ORPHA:464
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Central heterochromia, Chorioretinal coloboma, Splen... ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concent... OMIM:615287
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Astigmatism, Hydronephrosis, Renal cyst, Corneal opacity,... ORPHA:464306
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypernatremia, Hypoalbuminemia OMIM:619381
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma, Increased circulating cortisol level ORPHA:3453
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Elevated circulating creatine ki... OMIM:253280
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Abnormal circulating lipid concentration, Corneal opacity ORPHA:488632
Gaucher Disease
Abnormal macular morphology, Increased circulating ferritin concentration, Decreased HDL choleste... ORPHA:355
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Splenomegaly, Corneal opacity ORPHA:584
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Corneal opacity, Hypospadias ORPHA:2059
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Hydronephrosis, Sclerocornea, Pelvic kidney OMIM:613001
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Retinal dystrophy, Abnormality of retinal pigmentation, Chorioretinal ... ORPHA:2556
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
3Mc Syndrome 3
Horseshoe kidney, Penoscrotal hypospadias, Micropenis, Corneal opacity OMIM:248340
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Histiocytoid Cardiomyopathy
Optic atrophy, Megalocornea, Cardiomegaly, Renal cyst, Corneal opacity, Congenital aphakia, Hepat... ORPHA:137675
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Hypospadias, Hypoplasia of penis, Iris coloboma ORPHA:77298
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Dermatan s... OMIM:253220
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Hurler Syndrome
Retinopathy, Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly ORPHA:93473
Pseudo-Torch Syndrome 1
Cataract, Renal insufficiency, Splenomegaly, Hepatomegaly, Opacification of the corneal stroma OMIM:251290
Williams Syndrome
Megalocornea, Posterior embryotoxon, Flat cornea, Cataract, Renal insufficiency, Renal duplicatio... ORPHA:904
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux, Corneal opacity ORPHA:96061
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... ORPHA:649
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Pigmentary retinopathy, Micropenis OMIM:614230
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Hypospadias, Anterior chamber synechiae OMIM:601499
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Proboscis Lateralis
Cataract, Microcornea, Unilateral renal agenesis, Duplication of renal pelvis, Chorioretinal colo... ORPHA:141099
Wilson Disease
Hepatomegaly, Splenomegaly, Kayser-Fleischer ring ORPHA:905
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Renal steatosis, ... ORPHA:391665
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Pigmentary retinopathy, Peters anomaly, Chordee, Micropenis, Sclerocornea,... OMIM:309801
Alpha-Mannosidosis, Infantile Form
Cataract, Oligosacchariduria, Recurrent urinary tract infections, Hepatosplenomegaly, Astigmatism... ORPHA:309282
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias OMIM:615877
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Hypermyelinated retinal nerve fibers, Corneal opacity OMIM:601812
Mucopolysaccharidosis Type 2
Optic atrophy, Retinopathy, Splenomegaly, Retinal degeneration, Abnormality of retinal pigmentati... ORPHA:580
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Astigmat... OMIM:242900
Carpenter Syndrome 1
Optic atrophy, Microcornea, Hydroureter, Hydronephrosis, Opacification of the corneal stroma OMIM:201000
De Barsy Syndrome
Cataract, Abnormal fundus fluorescein angiography, Corneal opacity ORPHA:2962
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Hepatomegaly, Cardiomegaly, Splenomegaly ORPHA:75565
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Heparan sulfate excretion in urine, Hepatosplenomegaly, Splenomegaly, Retinopathy,... ORPHA:217085
Smith-Lemli-Opitz Syndrome
Cataract, Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Optic atrop... ORPHA:818
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Heparan sulfate excretion in urine, Hepatosplenomegaly, Splenomegaly, Retinopathy,... ORPHA:217093
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Hypospadias, Corneal dystro... ORPHA:495875
Chime Syndrome
Hydronephrosis, Retinal coloboma, Abnormality of the kidney, Corneal opacity ORPHA:3474
Thrombocytopenia-Absent Radius Syndrome
Cataract, Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral re... OMIM:274000
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cyst, Hepatomega... OMIM:312870
Meckel Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Optic atrophy, Aplasia/Hypoplasia of the iri... ORPHA:564
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Optic disc coloboma, Megalocornea, Corneal opacity, Iris coloboma... ORPHA:536471
Spondyloepiphyseal Dysplasia, Maroteaux Type
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:184095
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Steinert Myotonic Dystrophy
Posterior subcapsular cataract, Hypercholesterolemia, Astigmatism ORPHA:273
Peters Plus Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Peters anomaly, Hypospadias, Optic atrophy, ... ORPHA:709
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Cardiac-Urogenital Syndrome
Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney OMIM:618280
Mosaic Variegated Aneuploidy Syndrome
Cataract, Multicystic kidney dysplasia, Nephroblastoma, Corneal opacity ORPHA:1052
Pmm2-Cdg
Hypoalbuminemia, Cataract, Reduced thyroxin-binding globulin, Proteinuria, Photoreceptor layer lo... ORPHA:79318
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Opacification of the corne... OMIM:158310
Lathosterolosis
Cataract, Microcornea, Horseshoe kidney, Hepatomegaly, Hypoplasia of penis, Opacification of the ... ORPHA:46059
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Splenomegaly, Dermatan sulfate excretion in urine, Corneal opacity OMIM:253200
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Retinopathy, Corneal opacity ORPHA:2396
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Micropenis, Sclerocornea, Hypospadias, Optic nerve hypoplasia OMIM:206900
Wiedemann-Rautenstrauch Syndrome
Cataract, Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Recurrent urinary tract i... ORPHA:3455
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Opacification of the corneal stroma, Chondroitin sulfate excretion in urine, Kerata... OMIM:253000
Oculoectodermal Syndrome
Microcornea, Astigmatism, Chorioretinal atrophy, Opacification of the corneal stroma, Limbal derm... OMIM:600268
Wolf-Hirschhorn Syndrome
Iris coloboma, Optic atrophy, Abnormality of the urinary system, Megalocornea, Retinopathy, Abnor... ORPHA:280
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Opacification of the corneal st... ORPHA:1692
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris ... ORPHA:42775
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Corneal opacity OMIM:620519
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Opacification of the corneal stroma, Splenomegaly ORPHA:583
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Cockayne Syndrome A
Cataract, Optic atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, Renal insuf... OMIM:216400
Neurofibromatosis Type 1
Cataract, Chorioretinal coloboma, Abnormality of retinal pigmentation, Heterochromia iridis, Lisc... ORPHA:636
Kindler Epidermolysis Bullosa
Neoplasm of the urethra, Phimosis, Urethral stricture, Corneal opacity, Conjunctivitis ORPHA:2908
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Hydroureter, Astigmatism, Hydronephrosis, Abnormality of the upper urinary tract, Abno... ORPHA:2273
Cockayne Syndrome B
Optic atrophy, Microcornea, Pigmentary retinopathy, Hypoplasia of the iris, Renal insufficiency, ... OMIM:133540
Moebius Syndrome
Corneal opacity ORPHA:570
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract, Optic disc pallor, Vesicoureteral reflux OMIM:619869
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Corneal erosion, Corneal opacity ORPHA:920
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly OMIM:231005
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Developmental cataract, Corneal ... ORPHA:90348
Fraser Syndrome 1
Renal hypoplasia, Renal hypoplasia/aplasia, Corneal opacity, Micropenis, Hypospadias OMIM:219000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatosplenomegaly, Papilledema, Splenomegaly, Corneal opacity ORPHA:2072
Larsen Syndrome
Corneal opacity OMIM:150250
Xeroderma Pigmentosum
Aminoaciduria, Cataract, Optic atrophy, Keratitis, Pterygium, Conjunctival telangiectasia, Opacif... ORPHA:910
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Abnormality of the kidney, Corneal opacity ORPHA:2369
Digeorge Syndrome
Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Splenomegaly, Hydronephrosis, Poste... OMIM:188400
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Keratoconjunctivitis, Abnormal renal tubule morphology, Abnormal prep... ORPHA:2907
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis, Corneal opacity ORPHA:666
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Van Den Ende-Gupta Syndrome
Sclerocornea, Dilatation of the renal pelvis OMIM:600920
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Ectopic kidney, Micropenis, Opacification of ... OMIM:263650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Opacification of the corneal st... OMIM:229850
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Yunis-Varon Syndrome
Cataract, Renal artery stenosis, Cardiomegaly, Micropenis, Sclerocornea, Renovascular hypertensio... ORPHA:3472
Roberts-Sc Phocomelia Syndrome
Cataract, Long penis, Horseshoe kidney, Corneal opacity, Polycystic kidney dysplasia, Opacificati... OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Microphthalmia, Syndromic 6
Sclerocornea, Renal hypoplasia, Microcornea, Retinal dystrophy OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Keratitis, Renal agenesis, Corneal neova... OMIM:308205
Yunis-Varon Syndrome
Sclerocornea, Cataract, Micropenis, Hypospadias OMIM:216340
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Optic atrophy OMIM:616737
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Optic atrophy ORPHA:487796

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 Cdc42

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 Cdc42.

No publications found that use IMPC mice or data for Cdc42.

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
Cdc42tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdc42tm536(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cdc42tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cdc42tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cdc42tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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