Gene Summary

Name:
cell division cycle 42
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

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

lacZ Expression

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

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

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

4 Images

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
Optic atrophy, Unilateral renal agenesis, Hydronephrosis, Hypospadias OMIM:616737
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Unilateral renal agenesis, Hydronephrosis, Hypospadias 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
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Drusen, Glomerular subendothelial electron-dense deposits, Nephrotic syndrom... ORPHA:54370
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor... ORPHA:2843
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:144300
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... OMIM:619868
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... OMIM:603278
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly OMIM:232700
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria 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
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:614025
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Diarrhea 13
Hypoalbuminemia OMIM:620357
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concen... OMIM:616828
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Immunodeficiency 115 With Autoinflammation
Elevated circulating C-reactive protein concentration, Elevated haptoglobin level, Splenomegaly, ... OMIM:620632
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin... ORPHA:1473
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... ORPHA:656
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia, Hepatomegaly OMIM:618805
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... OMIM:617575
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat... ORPHA:64753
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Alg1-Cdg
Nephrotic syndrome, Hypoalbuminemia, Renal insufficiency, Abnormality of the kidney ORPHA:79327
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Dermoids Of Cornea
Corneal opacity OMIM:304730
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the cornea, Corneal dyst... OMIM:217800
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholeste... OMIM:612526
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Splenomegaly ORPHA:75234
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly OMIM:619013
Galactokinase Deficiency
Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Increased level of gala... ORPHA:79237
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating... OMIM:616050
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hepatomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:618528
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... OMIM:267700
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato... ORPHA:247585
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Corneal arcus, Decreased HDL cholesterol concentration, Proteinuria, Renal ... OMIM:245900
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Corneal opacity, Elevated circulating creatine kinase concentration, Left ven... OMIM:613153
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypoalbuminemia OMIM:602579
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly OMIM:209950
Paternal Uniparental Disomy Of Chromosome 1
Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Increased blood u... ORPHA:251004
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... OMIM:232200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Liver Failure, Infantile, Transient
Dicarboxylic aciduria, Hepatomegaly, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Hypoalbu... OMIM:613070
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Chorioretinal h... OMIM:617303
Mpi-Cdg
Hypoalbuminemia, Hepatomegaly ORPHA:79319
Leishmaniasis
Hypoalbuminemia, Hepatomegaly, Splenomegaly ORPHA:507
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma, Keratitis OMIM:148200
Immunodeficiency 32B
Hypoalbuminemia, Hepatomegaly, Splenomegaly OMIM:226990
Winchester Syndrome
Corneal opacity OMIM:277950
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:308240
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:618348
Morquio Syndrome C
Corneal opacity OMIM:252300
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Xfe Progeroid Syndrome
Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels, Proteinuria, Hypoalbuminem... OMIM:610965
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... ORPHA:567546
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, ... OMIM:232220
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Hypoplasia of penis, Mic... ORPHA:899
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Renal steatosis, Hepa... ORPHA:412
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Hepatomegaly OMIM:608104
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Macular dots, Retinal thinning, Astigmatism, Macular deg... OMIM:270200
Acute Bilirubin Encephalopathy
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Impai... OMIM:604278
Eosinophilic Gastroenteritis
Hypoalbuminemia, Steatorrhea, Elevated circulating C-reactive protein concentration ORPHA:2070
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Corneal ... ORPHA:14
Aicardi-Goutieres Syndrome 9
Optic atrophy, Hepatomegaly, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract i... OMIM:619487
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corneal opacity,... OMIM:152950
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Retinal detachment, Abnormal renal morphology, Abnorm... OMIM:182290
Sitosterolemia 1
Corneal arcus, Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin le... OMIM:210250
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals, Abnormal retinal morphology OMIM:219750
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Avian Influenza
Acute kidney injury, Elevated circulating C-reactive protein concentration, Elevated circulating ... ORPHA:454836
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hep... OMIM:603553
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... OMIM:254900
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... OMIM:613092
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hyperammonemia, Hydronephrosis, Conjugated hyperbilirubinemia, Decr... OMIM:617093
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hepatomegaly, Abnormal renal physiology, Splenomegaly, Hypoalbuminemia, Inc... ORPHA:540
Wolcott-Rallison Syndrome
Hepatomegaly, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Chronic kidney disease, Hypoalbum... ORPHA:1667
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly, Abnormal macular morphology, Nephropathy ORPHA:87876
Cystinosis
Hypokalemia, Nephropathy, Corneal opacity, Retinopathy, Proteinuria, Hypophosphatemia, Renal insu... ORPHA:213
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp... OMIM:249310
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Hematuria OMIM:617021
Galloway-Mowat Syndrome 1
Optic atrophy, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, Pr... OMIM:251300
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:633
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria, Hyp... OMIM:212065
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, 3-Methylglutaconic aciduria, Chorioretinal hyperpigmentation, Hyperalaninemia, Hyp... OMIM:618329
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Bardet-Biedl Syndrome 20
Astigmatism, Hypercholesterolemia, Papilledema, Proteinuria, Micropenis, Rod-cone dystrophy, Reti... OMIM:619471
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia, Hepatomegaly OMIM:226300
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... OMIM:618183
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alpha-fetoprotein con... OMIM:619662
Smith-Magenis Syndrome
Hypertriglyceridemia, Renal hypoplasia/aplasia, Retinal detachment, Microcornea, Abnormality of t... ORPHA:819
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Hypoalbuminemi... ORPHA:247353
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract, Micropenis, Hypospadias OMIM:618815
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Retinal hemorrhage, Abnormal circulating protein conc... ORPHA:86839
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Alagille Syndrome 1
Hypertriglyceridemia, Abnormal anterior chamber morphology, Duplicated collecting system, Renal t... OMIM:118450
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatomegaly, Hepatosplenomegaly ORPHA:367
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... OMIM:276700
Hepatoportal Sclerosis
Hypoalbuminemia, Splenomegaly, Hyperbilirubinemia ORPHA:64743
Al Amyloidosis
Renal interstitial amyloid deposits, Abnormality of the kidney, Hepatomegaly, Increased circulati... ORPHA:85443
Cog4-Cdg
Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Nephrotic syndrome, Abnormality of retinal pigmentation, Hepatosp... ORPHA:505248
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ... ORPHA:2479
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Corneal opacity, E... ORPHA:2788
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Congenital Rubella Syndrome
Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Cataract, Aplas... ORPHA:290
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hypercholesterolemia ORPHA:528
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insu... OMIM:166300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hyperbilirubinemia, Splenomegaly, Elevated circulating a... OMIM:251880
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Corneal arcus, Hepatosplenomega... ORPHA:168569
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Argininuria, Decrease... ORPHA:470
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... OMIM:617729
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Hypercholesterolemia OMIM:620454
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane... OMIM:221900
9Q31.1Q31.3 Microdeletion Syndrome
Renovascular hypertension, Hypercholesterolemia ORPHA:401923
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Astigmatism, Hypospadias, Duplicated collecting system, Optic nerve hypoplasia, Ves... OMIM:301056
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Corneal erosion, Decreased circulating carnitine concentration, Decreased circulating iron concen... ORPHA:89842
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... OMIM:278000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, 4-Hydroxyphenylpyruvic acidu... OMIM:617156
Wilson Disease
Sunflower cataract, Hepatomegaly, Increased urinary copper concentration, Decreased circulating c... OMIM:277900
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hepatomegaly, Splenomegaly, C... ORPHA:186
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Recurrent urinary tract infections, Elevated circulating creatine kinase concentrat... ORPHA:36234
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Hypotriglyceridemia, Retinal atrophy, Corneal opacity, Cone/cone-rod dystrophy,... ORPHA:85167
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatomegaly, Hyperuricemia, Tubulointerstiti... ORPHA:79259
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Retinal atrophy, Co... OMIM:236670
Alg12-Cdg
Hypospadias, Retinal detachment, Hyponatremia, Hypoalbuminemia, Hypocholesterolemia, Micropenis ORPHA:79324
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Sialidosis Type 1
Corneal opacity, Retinopathy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Che... ORPHA:812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatomegaly, Renal tubular acidosis, Myoglobinuria, Elevated circulating c... ORPHA:79240
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Vesicoureteral reflux, Hydronephrosis, Hypoalbuminemia, Horseshoe kidney OMIM:235510
Harel-Yoon Syndrome
Optic atrophy, Developmental cataract, Corneal opacity OMIM:617183
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Xanthelasma, Decreased HDL cholesterol concentration, O... ORPHA:425
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Familial Dysautonomia
Optic atrophy, Abnormality of the kidney, Glomerulopathy, Corneal erosion, Corneal opacity, Heter... ORPHA:1764
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Retinal detachment, Microcornea, Sclerocorn... OMIM:615145
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hepatomegaly, Hypospadias, Galactosuria, Hypergalactosemia, Rena... OMIM:222470
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Nephrotic syndrome, Hypomagnesemia,... ORPHA:37042
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Megalocornea, Mucopolysacchar... OMIM:252500
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Congenital Sialidosis Type 2
Optic atrophy, Abnormality of the kidney, Hepatomegaly, Yellow/white lesions of the retina, Corne... ORPHA:93400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Corneal opacity, Cataract ORPHA:496790
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatomegaly, Renal tubular acidosis, Myoglobinuria, Elevated circulating c... ORPHA:264580
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Enlarged polycystic ovaries, Glyco... ORPHA:2298
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Retinopathy, Mucopolysacchariduria, Hyperopic ... OMIM:252600
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Juvenile Sialidosis Type 2
Optic atrophy, Abnormality of the kidney, Hepatomegaly, Visceromegaly, Corneal opacity, Hepatospl... ORPHA:93399
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Zellweger Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Hepatomegaly, Hypospadias, Corneal opacity, Pos... ORPHA:912
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia, Hypospadias OMIM:610644
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal... ORPHA:90041
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Alpha-Mannosidosis
Cataract, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:61
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme... ORPHA:585
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93476
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:615415
Hypercholesterolemia, Familial, 1
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration OMIM:143890
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Dense posterior cortical cataract, Renal insuff... OMIM:309000
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collect... OMIM:270400
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Nephrotic range proteinuria, Hyperlipidemia, Corneal opacity, ... ORPHA:1830
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Hepatomegaly, Polycystic kidney dysplasia, Elevated circulating long chain... OMIM:214110
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Astigmatism, Cataract, Retinal coloboma, Bifid ureter, Nephroblastoma, Renal mal... ORPHA:500095
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Iris coloboma ORPHA:139471
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Left ventricular hypertrophy ORPHA:90065
Leprechaunism
Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Increased circulating ren... ORPHA:508
Fabry Disease
Abnormal circulating lipid concentration, Optic atrophy, Abnormal renal tubule morphology, Glomer... ORPHA:324
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Unilateral renal agenesis, Aniridia ORPHA:1064
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... OMIM:208540
Alpha-Mannosidosis, Adult Form
Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Optic disc pallor ORPHA:309288
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Nephrocalcinosis, Hypophosphatemia, Hyperaldosteronism, Multiple renal cysts, Ch... ORPHA:534
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Mucolipidosis Iii Gamma
Mucopolysacchariduria, Opacification of the corneal stroma, Increased serum beta-hexosaminidase OMIM:252605
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Keratoconjunctivitis sicca ORPHA:79128
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Splenomegaly, Hepatomegaly, Cherry red spot of the macula OMIM:230650
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Sanjad-Sakati Syndrome
Astigmatism, Hypoplasia of penis, Hypocalcemia, Corneal opacity, Hyperphosphatemia ORPHA:2323
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Proteinuria, Stage 5 chronic kidney disease, Retinal pigment epith... OMIM:219900
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... ORPHA:731
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Hypophosphatemic rickets, Corneal opacity, Horseshoe kidney OMIM:163200
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity, Hematuria, Proteinuria, Nephropathy ORPHA:1765
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ... ORPHA:93598
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Left ventricular hypertrophy, Hypochol... ORPHA:31150
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma OMIM:271630
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Hyperphosphaturia, Glycosuria, Renal Fanconi syndr... ORPHA:411629
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Retinal degeneration OMIM:272200
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts ORPHA:464329
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Corneal opacity, Cone/con... OMIM:608940
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Stromme Syndrome
Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral renal hypoplasia, Ca... OMIM:243605
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creatinine concent... ORPHA:411634
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Elevated circul... OMIM:175780
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Bartsocas-Papas Syndrome
Popliteal pterygium, Renal hypoplasia/aplasia, Corneal opacity ORPHA:1234
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia OMIM:151660
Scheie Syndrome
Retinal degeneration, Corneal opacity OMIM:607016
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Conjunctival hyperemia, Proteinuria, Conju... ORPHA:2331
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia OMIM:200995
Primary Sclerosing Cholangitis
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Renal insufficiency ORPHA:171
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93474
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Renal salt wasting, Hyponatremia, H... ORPHA:275761
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... ORPHA:79328
Galactosialidosis
Visceromegaly, Conjunctival telangiectasia, Hepatosplenomegaly, Cherry red spot of the macula, Op... OMIM:256540
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Hurler Syndrome
Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Hepatosplenomegaly, Splenomeg... OMIM:607014
Gm1 Gangliosidosis
Optic atrophy, Corneal opacity, Hepatosplenomegaly, Splenomegaly, Cherry red spot of the macula, ... ORPHA:354
Al-Gazali Syndrome
Sclerocornea, Hydronephrosis, Corneal opacity OMIM:609465
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Recurrent urinary tract infections, Unconjugated hyperbilirubinemia OMIM:613658
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ureteral stenosis, Choroideremia, Iris hypopigmentation, Cataract, Abnormality o... ORPHA:2719
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly OMIM:248370
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Cataract OMIM:261740
Lowry-Maclean Syndrome
Megalocornea, Developmental glaucoma, Corneal opacity, Hypospadias ORPHA:2409
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Ogden Syndrome
Enlarged kidney, Hyperbilirubinemia, Polycystic kidney dysplasia, Global glomerulosclerosis, Card... OMIM:300855
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Papillary renal cell carcinoma ORPHA:363618
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Unilateral renal agenesis OMIM:616603
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Hypospadias, Unilateral renal agenesis, Retinal detachment, Pelvic kidney, Corneal o... ORPHA:464311
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Micropenis OMIM:176270
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate... OMIM:607015
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat... OMIM:614866
Wagro Syndrome
Aniridia, Corneal opacity, Cataract, Proteinuria, Nephroblastoma OMIM:612469
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Opacification of the corneal stroma, Mucopolysacchariduria, Proteinuria OMIM:215250
Immunodeficiency 47
Hepatomegaly, Hypercholesterolemia, Splenomegaly, Decreased circulating copper concentration OMIM:300972
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Farber Disease
Macular degeneration, Corneal opacity, Hepatosplenomegaly, Cherry red spot of the macula, Opacifi... ORPHA:333
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Astigmatism OMIM:615873
Cystinosis, Nephropathic
Recurrent corneal erosions, Generalized aminoaciduria, Retinopathy, Renal Fanconi syndrome, Corne... OMIM:219800
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract ORPHA:284160
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Hydronephrosis... ORPHA:2092
Biliary, Renal, Neurologic, And Skeletal Syndrome
Stage 5 chronic kidney disease, Hepatomegaly, Renal insufficiency, Hyperbilirubinemia, Medullary ... OMIM:619534
Fucosidosis
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Corneal opacity ORPHA:349
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals, Retinal degeneration OMIM:210370
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Hepatomegaly, Corneal ulceration, Keratan sulfate excretion in urine... OMIM:615273
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Chondroitin sulfate excretion ... OMIM:253010
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Mucolipidosis Type Iii Alpha/Beta
Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity, Right ventricular hypert... ORPHA:423461
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Elevated circulating long chain fatty acid concentration, Pigmentary r... OMIM:214100
Mucopolysaccharidosis Type 3
Optic atrophy, Hepatomegaly, Heparan sulfate excretion in urine, Corneal opacity, Cataract, Mucop... ORPHA:581
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Polyuria, Developmental cataract, Cataract, Hypercholesterolemia, Pigmentar... 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
Hypoplasia of penis, Corneal opacity, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Hors... ORPHA:99776
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Multicystic kidney dysplasia, Retinal dysplasia, Elevated circulating crea... OMIM:615287
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400