Gene Summary

Name:
FK506 binding protein 5
Synonyms:
FKBP51,  Dit1,  D17Ertd592e

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
preweaning lethality, incomplete penetrance Fkbp5tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased kidney weight Fkbp5tm1b(KOMP)Wtsi HOM   Early adult 1.40×10-05
increased kidney weight Fkbp5tm1b(KOMP)Wtsi HET   Early adult 6.83×10-05
corneal opacity Fkbp5tm1b(KOMP)Wtsi HOM Early adult 8.44×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (2 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 25% (1 of 4)
Eye  Wholemount images heterozygote 0.0% (0 of 4)
Harderian gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Ileum  Section images heterozygote 75% (3 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Ovary  Wholemount images  Section images heterozygote 50% (2 of 4)
Penis  Wholemount images  Section images heterozygote 50% (2 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Skin  Wholemount images  Section images heterozygote 100% (4 of 4)
Stomach  Section images heterozygote 75% (3 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 50% (2 of 4)
Vas deferens  Wholemount images  Section images heterozygote 50% (2 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 50% (2 of 4)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Midbrain N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 50% (2 of 4)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 4)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 50% (2 of 4)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 4)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (2 of 4)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 50% (2 of 4)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 4)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 4)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 4)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (2 of 4)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 50% (2 of 4)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 50% (2 of 4)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 50% (2 of 4)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 4)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 4)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (2 of 4)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 4)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 0.0% (0 of 4)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 50% (2 of 4)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 4)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 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)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

33 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

24 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Fkbp5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fkbp5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Dermoids Of Cornea
Corneal opacity OMIM:304730
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Wolfram-Like Syndrome, Autosomal Dominant
Diabetes mellitus, Anxiety, Depression OMIM:614296
Geniospasm 1
Anxiety OMIM:190100
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Apolipoprotein A-I Deficiency
Corneal opacity, Splenomegaly ORPHA:425
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Galactosialidosis
Corneal opacity ORPHA:351
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Winchester Syndrome
Corneal opacity OMIM:277950
Chorea, Benign Hereditary
Anxiety OMIM:118700
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Myoclonus-Dystonia Syndrome
Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Lcat Deficiency
Hematuria, Corneal opacity, Hepatomegaly, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:650
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular ac... OMIM:604278
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Neonatal death, Absence of renal cort... OMIM:263200
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556037
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Developmental cataract, Micropenis, Corneal opacity OMIM:618815
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Opacification of the corneal stroma, Proteinuria OMIM:245900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556030
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Stillbirth, Enlarged kidney OMIM:615415
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Isolated Optic Nerve Hypoplasia/Aplasia
Vesicoureteral reflux, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucopolysaccharidoses, Unclassified Types
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:252700
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Corneal opacity ORPHA:281090
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Nephropathy, Splenomegaly ORPHA:87876
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Unilateral renal agenesis, Corneal opacity ORPHA:1064
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Hepatomegaly, Cataract, Splenomegaly ORPHA:290
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93476
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Left ventricular hypertrophy, Corneal opacity OMIM:613153
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Astigmatism, Myopic astigmatism OMIM:152950
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Corneal opacity, Nephropathy, Proteinuria ORPHA:1765
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Unilateral renal agenesis, Corneal opacity OMIM:616603
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Cataract, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasi... OMIM:608836
Alpha-Mannosidosis
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly ORPHA:61
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Vesicoureteral reflux, Corneal opacity OMIM:120200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea, Hypospadias OMIM:615877
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Opacification of the corneal stroma, Proteinuria, Nephrotic syndrome OMIM:215250
Sialidosis Type 1
Corneal opacity, Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Splen... ORPHA:812
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Multicystic kidney dysplasia, Hepatomeg... ORPHA:912
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Hepatomegaly, Nephrot... OMIM:617303
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Corneal crystals, Proteinuria OMIM:219900
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea OMIM:615145
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Juvenile Sialidosis Type 2
Visceromegaly, Corneal opacity, Hepatomegaly, Cataract, Hepatosplenomegaly, Abnormality of the ki... ORPHA:93399
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Scheie Syndrome
Corneal opacity OMIM:607016
Cystinosis
Corneal opacity, Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Prot... ORPHA:213
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Scheie Syndrome
Mucopolysacchariduria, Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:93474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Opacification of the corneal stroma, Renal cyst, Hydronephrosis, Micropenis OMIM:615287
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re... OMIM:208540
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, 3-Methylglutaconic aciduria ORPHA:496790
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232200
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly OMIM:607015
Stromme Syndrome
Stillbirth, Iris coloboma, Cataract, Peters anomaly, Bilateral renal hypoplasia, Microcornea, Hyd... OMIM:243605
Bartsocas-Papas Syndrome
Popliteal pterygium, Renal hypoplasia/aplasia, Corneal opacity ORPHA:1234
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Renal Fanconi syndrome, Renal ... OMIM:276700
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio... OMIM:232220
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Corneal opacity, Hepatomegaly, Vesicoureteral reflux, Hydronephrosi... OMIM:301056
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy ORPHA:1806
Congenital Sialidosis Type 2
Developmental cataract, Corneal opacity, Hepatomegaly, Cataract, Hepatosplenomegaly, Abnormality ... ORPHA:93400
Alpha-Mannosidosis, Adult Form
Cataract, Hepatosplenomegaly, Oligosacchariduria, Corneal opacity ORPHA:309288
H Syndrome
Enlarged kidney, Corneal arcus, Hepatosplenomegaly, Micropenis, Abnormality of the kidney ORPHA:168569
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Cataract, Splenomegaly ORPHA:585
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Corneal opacity, Glomerulopathy, Renal insufficiency, Abno... ORPHA:1764
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Hyp... ORPHA:90796
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly OMIM:256540
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Pelvic kidney, Abnormal anterior chamber mo... OMIM:613001
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... ORPHA:95699
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Lowry-Maclean Syndrome
Developmental glaucoma, Hypospadias, Megalocornea, Corneal opacity ORPHA:2409
Wilson Disease
Hyperphosphaturia, Aminoaciduria, Kayser-Fleischer ring, Hepatomegaly, Hypercalciuria, Glycosuria... OMIM:277900
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Iris coloboma, Sclerocornea ORPHA:139471
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Nephrotic range proteinuria, Corneal opacity, Nephropathy, Mi... ORPHA:1830
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea, Hypoplasia of penis ORPHA:284160
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Fucosidosis
Mucopolysacchariduria, Cardiomegaly, Corneal opacity, Hepatomegaly ORPHA:349
Walker-Warburg Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Hypoplasia of penis ORPHA:899
Ocular Cystinosis
Corneal crystals ORPHA:411641
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Corneal opacity, Hyperphosphaturia OMIM:163200
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... OMIM:256800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Conjunctivitis, Nephrotic syndrome, Urinary ... ORPHA:505248
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Abnormality of the urinary system, Corneal opacity, Ocular albinism, Catar... ORPHA:2719
Mucopolysaccharidosis, Type Vii
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine, Hepatom... OMIM:253220
Brachymesomelia-Renal Syndrome
Renal insufficiency, Opacification of the corneal stroma OMIM:113470
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Multicystic kidney dysplasia, Cataract, Nephrob... ORPHA:500095
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Hepatosplenomegaly, Enlarged kidney ORPHA:464329
Hurler Syndrome
Corneal opacity, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Urinary glycosa... OMIM:607014
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Tangier Disease
Hepatomegaly, Opacification of the corneal stroma, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Renal cortical microcysts, Hepatomegaly, Cataract, Opacification of the corneal... OMIM:614866
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Splenomegaly, Corneal opacity, Hepatomegaly OMIM:272200
Pseudo-Torch Syndrome 1
Hepatomegaly, Cataract, Opacification of the corneal stroma, Splenomegaly, Renal insufficiency OMIM:251290
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Iris coloboma, Sclerocornea, Hypoplasia of penis ORPHA:77298
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypoplasia of penis ORPHA:2323
Mosaic Trisomy 9
Multiple renal cysts, Horseshoe kidney, Corneal opacity, Renal dysplasia, Hydronephrosis, Hypopla... ORPHA:99776
3Mc Syndrome 3
Horseshoe kidney, Micropenis, Corneal opacity, Penoscrotal hypospadias OMIM:248340
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity, Splenomegaly ORPHA:584
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma OMIM:601499
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Opacification of the corneal stroma, Nephrotic syndrome, Rena... OMIM:242900
Focal Dermal Hypoplasia
Horseshoe kidney, Ectopia lentis, Iris coloboma, Corneal opacity, Multicystic kidney dysplasia, H... ORPHA:2092
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Keratitis, Opacificatio... OMIM:308205
Fryns Syndrome
Corneal opacity, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Hypospadias ORPHA:2059
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
Gm1 Gangliosidosis
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:354
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Aminoaciduria, Hepatomegaly, Cataract, Opacification of the corneal stroma, Pol... OMIM:214110
Wilson Disease
Hepatomegaly, Splenomegaly, Kayser-Fleischer ring ORPHA:905
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Corneal opacity, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadia... ORPHA:464311
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Fabry Disease
Conjunctival telangiectasia, Abnormal renal tubule morphology, Hematuria, Proteinuria, Corneal op... ORPHA:324
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis, Corneal opacity ORPHA:96061
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Hepatosplenomegaly, Abnormal conjunctiva mo... ORPHA:333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Corneal opacity, Cataract, Megalocornea, Peters anomaly, Renal dysplasia OMIM:236670
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Corneal opacity, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadia... ORPHA:464306
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Stage 5 chronic kidney disease, Nephr... ORPHA:79259
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Enlarged kidney, Congenital megaureter, Visceromegaly, Nephropathy, Hepatom... ORPHA:116
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Mucoepithelial Dysplasia, Hereditary
Hematuria, Cataract, Opacification of the corneal stroma, Corneal neovascularization, Keratoconju... OMIM:158310
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... ORPHA:320
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Hepatomegaly, Megalocornea, Renal cyst, Cardiomegaly ORPHA:137675
Mucopolysaccharidosis Type 3
Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Cataract, Opacification of the corneal stro... ORPHA:581
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Lentiglobus, Olig... ORPHA:534
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis ORPHA:508
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Albuminuria, Aminoaciduria, Hepatomegaly, Cataract, Opacification of the cornea... OMIM:214100
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Corneal opacity, Splenomegaly ORPHA:579
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Iris coloboma, Cataract, Sclerocornea, Hypospadias, Micropenis OMIM:309801
Alpha-Mannosidosis, Infantile Form
Oligosacchariduria, Corneal opacity, Recurrent urinary tract infections, Cataract, Astigmatism, H... ORPHA:309282
Lathosterolosis
Horseshoe kidney, Hepatomegaly, Cataract, Opacification of the corneal stroma, Microcornea, Hypop... ORPHA:46059
Gaucher Disease, Type Iiic
Hepatomegaly, Opacification of the corneal stroma, Cardiomegaly, Splenomegaly OMIM:231005
Hurler Syndrome
Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93473
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Axenfeld anomaly, Ocular anterior segment dysgenesis, Peters anomaly, Opac... OMIM:612582
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma OMIM:211370
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Corneal opacity ORPHA:488632
Mosaic Variegated Aneuploidy Syndrome
Cataract, Nephroblastoma, Corneal opacity, Multicystic kidney dysplasia ORPHA:1052
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Opacification of the corneal stroma, Splenomegaly ORPHA:583
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal opacity, Keratoconjunctivitis sicca, Renal cyst, Hypospadias, Corneal dystrophy ORPHA:495875
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy, Abnormal urine p... ORPHA:411634
Congenital Disorder Of Deglycosylation
Hepatomegaly, Corneal opacity, Corneal ulceration OMIM:615273
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Keratan sulfate excr... OMIM:253000
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Renal Fanconi syndrome, Aminoaciduria, Glyco... ORPHA:411629
Carpenter Syndrome 1
Hydronephrosis, Opacification of the corneal stroma, Microcornea, Hydroureter OMIM:201000
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma OMIM:252600
Williams Syndrome
Recurrent urinary tract infections, Corneal opacity, Abnormality of the bladder, Hypercalciuria, ... ORPHA:904
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity ORPHA:464
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Corneal opacity ORPHA:31150
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Cataract, Opacification of the cornea... OMIM:251300
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Opacification of the corneal stroma, Renal cyst, Microp... ORPHA:1692
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Chime Syndrome
Abnormality of the kidney, Hydronephrosis, Corneal opacity ORPHA:3474
Meckel Syndrome
Urethral atresia, Aplasia/Hypoplasia of the iris, Multicystic kidney dysplasia, Cataract, Microco... ORPHA:564
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Opacification of the corneal stroma, Keratan sulfate excretion in urine OMIM:253010
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Bladder exstrophy, Astigmatism, Limbal dermoid OMIM:600268
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Peters Plus Syndrome
Anterior chamber synechiae, Iris coloboma, Corneal opacity, Multicystic kidney dysplasia, Catarac... ORPHA:709
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Hydroureter, Corneal opacity, Conjunctivitis, Keratitis, Hydronephrosis, Abnorma... ORPHA:2273
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis, Urethral stricture, Phimosis, Neoplasm of the urethra ORPHA:2908
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Posterior embryotoxon, Corneal opacity, Sclerocornea, Hypospadias, Epi... ORPHA:2556
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Moebius Syndrome
Corneal opacity ORPHA:570
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Nephroblastoma, Duplication of renal pelvis, Renal cyst, Splenomeg... OMIM:312870
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Dermatan sulfate excretion in urine, Opacification of the corneal stroma, Splenomegaly OMIM:253200
Ablepharon Macrostomia Syndrome
Corneal opacity, Hypoplasia of penis, Corneal erosion ORPHA:920
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Smith-Lemli-Opitz Syndrome
Iris coloboma, Multicystic kidney dysplasia, Abnormal localization of kidney, Cataract, Ureterope... ORPHA:818
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Megalocornea, Opacification of the corneal stroma, Cardiomeg... OMIM:252500
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Gaucher Disease
Hematuria, Corneal opacity, Hepatomegaly, Splenomegaly, Proteinuria ORPHA:355
Neurofibromatosis Type 1
Lisch nodules, Heterochromia iridis, Corneal opacity, Cataract, Abnormality of the upper urinary ... ORPHA:636
Mucopolysaccharidosis Type 2, Severe Form
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine, Splenom... ORPHA:217085
Fraser Syndrome 1
Renal hypoplasia, Corneal opacity, Hypospadias, Renal hypoplasia/aplasia, Micropenis OMIM:219000
Mucopolysaccharidosis Type 2, Attenuated Form
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine, Splenom... ORPHA:217093
Norrie Disease
Anterior chamber synechiae, Ectopia lentis, Corneal opacity, Hypoplasia of the iris, Cataract, Sc... ORPHA:649
Larsen Syndrome
Corneal opacity OMIM:150250
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Sclerocornea ORPHA:42775
Wolf-Hirschhorn Syndrome
Abnormality of the urinary system, Iris coloboma, Megalocornea, Sclerocornea, Hypospadias, Abnorm... ORPHA:280
Cockayne Syndrome B
Hypoplasia of the iris, Cataract, Hepatomegaly, Opacification of the corneal stroma, Microcornea,... OMIM:133540
Mucopolysaccharidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:580
Limb Body Wall Complex
Abnormality of the kidney, Iris coloboma, Corneal opacity, Lens subluxation ORPHA:2369
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Aggressive behavior, Apat... ORPHA:3385
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Iris coloboma, Corneal opacity ORPHA:536471
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis, Corneal opacity ORPHA:666
Hereditary Acrokeratotic Poikiloderma
Abnormal renal tubule morphology, Opacification of the corneal stroma, Abnormality of the urethra... ORPHA:2907
Stuve-Wiedemann Syndrome
Opacification of the corneal stroma OMIM:601559
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:2072
Lathosterolosis
Cataract, Opacification of the corneal stroma, Horseshoe kidney, Hepatosplenomegaly OMIM:607330
Fryns Syndrome
Renal agenesis, Stillbirth, Opacification of the corneal stroma, Renal cyst, Hydronephrosis, Hypo... OMIM:229850
Cockayne Syndrome A
Hepatomegaly, Cataract, Opacification of the corneal stroma, Splenomegaly, Renal insufficiency, M... OMIM:216400
Digeorge Syndrome
Posterior embryotoxon, Unilateral renal agenesis, Renal dysplasia, Hydronephrosis, Sclerocornea OMIM:188400
Yunis-Varon Syndrome
Cataract, Micropenis, Sclerocornea, Hypospadias OMIM:216340
Bartsocas-Papas Syndrome 1
Axillary pterygium, Pterygium, Opacification of the corneal stroma, Ectopic kidney, Corneal ulcer... OMIM:263650
Xeroderma Pigmentosum
Conjunctival telangiectasia, Aminoaciduria, Cataract, Keratitis, Pterygium, Opacification of the ... ORPHA:910
Wiedemann-Rautenstrauch Syndrome
Dilatation of renal calices, Recurrent urinary tract infections, Corneal opacity, Cataract, Vesic... ORPHA:3455
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Yunis-Varon Syndrome
Renovascular hypertension, Cataract, Cardiomegaly, Sclerocornea, Hypospadias, Micropenis, Renal a... ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma OMIM:253280
Microphthalmia, Syndromic 6
Renal hypoplasia, Microcornea, Sclerocornea, Hypospadias, Micropenis OMIM:607932
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Long penis, Stillbirth, Cataract, Opacification of the corneal stroma, Polycyst... OMIM:268300

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 Fkbp5

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 Fkbp5.

No publications found that use IMPC mice or data for Fkbp5.

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MGI Allele Allele Type Produced
Fkbp5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fkbp5tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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