Gene Summary

Name:
prothymosin alpha
Synonyms:
Thym

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
corneal opacity Ptmatm1.1(KOMP)Vlcg HET Early adult 1.15×10-08
persistence of hyaloid vascular system Ptmatm1.1(KOMP)Vlcg HET Early adult 1.15×10-05
preweaning lethality, complete penetrance Ptmatm1.1(KOMP)Vlcg HOM   Early adult 0.00

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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 33.33% (1 of 3)
Brain  Wholemount images heterozygote 33.33% (1 of 3)
Brown adipose tissue  Section images heterozygote 33.33% (1 of 3)
Cecum  Section images heterozygote 33.33% (1 of 3)
Cerebellum  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Colon  Section images heterozygote 66.67% (2 of 3)
Duodenum  Section images heterozygote 33.33% (1 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Esophagus  Section images heterozygote 33.33% (1 of 3)
Eye  Section images heterozygote 33.33% (1 of 3)
Harderian gland  Section images heterozygote 66.67% (2 of 3)
Ileum  Section images heterozygote 100% (3 of 3)
Jejunum  Section images heterozygote 33.33% (1 of 3)
Kidney  Section images heterozygote 66.67% (2 of 3)
Liver  Section images heterozygote 33.33% (1 of 3)
Lung  Section images heterozygote 33.33% (1 of 3)
Mesenteric lymph node  Section images heterozygote 33.33% (1 of 3)
Midbrain  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Olfactory lobe  Section images heterozygote 33.33% (1 of 3)
Ovary  Section images heterozygote 33.33% (1 of 3)
Oviduct  Section images heterozygote 33.33% (1 of 3)
Pancreas  Section images heterozygote 33.33% (1 of 3)
Skin  Section images heterozygote 0.0% (0 of 3)
Spinal cord  Section images heterozygote 33.33% (1 of 3)
Spleen  Section images heterozygote 33.33% (1 of 3)
Stomach  Section images heterozygote 66.67% (2 of 3)
Sublingual gland  Section images heterozygote 33.33% (1 of 3)
Testis  Wholemount images  Section images heterozygote 66.67% (2 of 3)
Thymus  Section images heterozygote 33.33% (1 of 3)
Thyroid gland  Section images heterozygote 33.33% (1 of 3)
Tongue  Section images heterozygote 33.33% (1 of 3)
Trachea  Section images heterozygote 33.33% (1 of 3)
Urinary bladder  Section images heterozygote 33.33% (1 of 3)
Uterus  Section images heterozygote 33.33% (1 of 3)
Vagina  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
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 100% (1 of 1)
Axial skeleton N/A homozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Central nervous system ganglion N/A heterozygote 100% (1 of 1)
Central nervous system ganglion N/A homozygote 100% (1 of 1)
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote 100% (1 of 1)
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Gut N/A heterozygote 100% (1 of 1)
Gut N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote 100% (1 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 100% (1 of 1)
Lung N/A homozygote 100% (1 of 1)
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote 100% (1 of 1)
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote 100% (1 of 1)
Skeleton N/A heterozygote 100% (1 of 1)
Skeleton N/A homozygote 100% (1 of 1)
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote 100% (1 of 1)
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Trachea N/A homozygote 100% (1 of 1)
Urinary system N/A heterozygote 100% (1 of 1)
Urinary system N/A homozygote 100% (1 of 1)

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 Section

81 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ptma 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 Ptma by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
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
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Frontotemporal cerebral atrophy... ORPHA:412066
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
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
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma OMIM:251505
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Stickler Syndrome Type 2
Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea, R... ORPHA:83461
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Retinal ... ORPHA:1473
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Winchester Syndrome
Corneal opacity OMIM:277950
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Oculoauricular Syndrome
Coloboma, Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea, Retinal detachment OMIM:610202
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Weight loss, Bradykinesia, Irritability, Anxiety OMIM:606438
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Coloboma, Cataract, Peters anomaly... OMIM:610256
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Autosomal Dominant Keratitis
Aniridia, Coloboma, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypopl... ORPHA:2334
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai... ORPHA:401901
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Huntington Disease-Like 1
Basal ganglia gliosis, Aggressive behavior, Dementia, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Peters anomaly,... OMIM:120200
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Depression, Abnormal cerebral white matter morphology, Frontotemporal ... ORPHA:100070
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Aplasia/Hypoplasia of the corpus callosum, Ataxia ORPHA:29822
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Microcephaly, Hypothermia, Lethargy OMIM:610006
Huntington Disease
Decreased body mass index, Dystonia, Weight loss, Memory impairment, Aggressive behavior, Apathy,... ORPHA:399
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Basal ganglia calcification, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Aplasia/Hypoplasia of the iris, Corneal opacity, Pseudopapilledema, Optic... ORPHA:137902
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Lethargy ORPHA:95717
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Developmental And Epileptic Encephalopathy 78
Inability to walk, Microcephaly, Hypothermia OMIM:618557
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Optic atrophy, Retinal degeneration OMIM:252650
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Opacification of the corneal epithelium OMIM:270200
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Hypothermia, Failure to thrive OMIM:618329
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Focal T2 hyperintense basal ganglia lesion, Hypothermia, Failure to thrive, Cerebral atrophy OMIM:245400
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Primary Erythromelalgia
Hypothermia ORPHA:90026
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Keratoglobus, Megalocornea, Flat cornea, Sclerocornea OMIM:614170
Menkes Disease
Microcephaly, Hypothermia OMIM:309400
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Dysdiadochokinesis, Gait ataxia, Aplasia/Hypoplasia of the corpus callos... ORPHA:99027
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Retinal detachment, Corneal opacity, Coloboma OMIM:613153
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Weight loss, Brad... OMIM:168605
Meningococcal Meningitis
Hypothermia, Irritability, Lethargy, Fever ORPHA:33475
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Dementia, Cerebral atrophy, Microcephaly, Ataxia, Failure to thrive, Periventricular wh... ORPHA:79282
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Familial Thyroid Dyshormonogenesis
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Lethargy ORPHA:95716
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Unsteady gait, Abnormality of temperature regulation, Hypothermia, Microcephal... OMIM:618493
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Alexander Disease
Agenesis of corpus callosum, Depression, Self-injurious behavior, Gait disturbance, Megalencephal... ORPHA:58
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Hypothermia, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Cataract, Microcornea, Retinal detachment, Astigmatism, Optic atrophy, Myopic as... OMIM:152950
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Retinal detachment, Sclerocornea OMIM:615145
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Bipolar affective disorder, Abnormal periventricular white matter morphology, ... ORPHA:488632
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Depression, Pituitary hypothyroidism, Increased circulating prolactin concentration, Fa... ORPHA:90674
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Lethargy, Blepharospasm, Emotional lability, Torticollis, Oculogyric cri... OMIM:608643
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy, Ataxia, Weight loss, Leukoencephalopathy, Microcephaly, Hypothermia, Fever ORPHA:20
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Cerebral atrophy, Anxiety, Abnormal fear... ORPHA:309246
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Carnitine-Acylcarnitine Translocase Deficiency
Microcephaly, Hypothermia, Irritability, Lethargy ORPHA:159
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Microcephaly, Hypothermia, Failure to thrive, Cerebral atrophy OMIM:251880
Congenital Hypothyroidism
Anterior hypopituitarism, Hypothermia, Anxiety, Depression ORPHA:442
Permanent Congenital Hypothyroidism
Hypothermia ORPHA:226292
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Congenital Rubella Syndrome
Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Yellow Fever
Malignant hyperthermia, Hypothermia, Lethargy, Fever ORPHA:99829
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Congenital Enterovirus Infection
Hypothermia, Irritability, Fever ORPHA:292
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Overweight, Small for gestational age, Hypothermia, Obesity ORPHA:26793
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Lcat Deficiency
Corneal opacity ORPHA:650
Genetic Transient Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Lethargy ORPHA:226316
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Gait ataxia, Focal T2 hyperintense basal ganglia lesion, Ataxia, Failure to thrive, Hyp... ORPHA:255210
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Coloboma, Conjunctival hyperemia ORPHA:2399
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Retinal detachment ORPHA:2788
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Aggressive behavior, Cerebral atrophy, Unsteady gait, Failure to thrive, Leukoencephalo... ORPHA:17
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Lethargy ORPHA:90673
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Optic nerve hypoplasia, Corneal opacity ORPHA:496790
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Fish-Eye Disease
Corneal opacity ORPHA:79292
Sialidosis Type 2
Corneal opacity ORPHA:87876
Ocular Cystinosis
Corneal crystals ORPHA:411641
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age OMIM:618775
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Aggressive behavior, Depression, Self-injurious behavior, Decreased resp... ORPHA:293987
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Lethargy, Overweight, Agenesis of corpus callosum, Pituitary hypothyroidism, ... ORPHA:226307
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Ethylene Glycol Poisoning
Cerebral edema, Hypothermia, Euphoria, Ataxia ORPHA:31826
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Corneal crystals OMIM:219900
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Walker-Warburg Syndrome
Iris coloboma, Corneal opacity, Retinal dysplasia, Cataract, Microcornea, Retinal detachment, Opt... ORPHA:899
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy ORPHA:1806
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hypothermia, Anxiety, Fever ORPHA:94093
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Multiple Sulfatase Deficiency
Cataract, Abnormality of retinal pigmentation, Optic atrophy, Corneal opacity ORPHA:585
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Optic disc pallor ORPHA:309288
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract, Optic atrophy ORPHA:912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Retinal atrophy, Coloboma, Corneal opacity, Retinal dysplasia, Cataract, Megalocorne... OMIM:236670
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Corneal opacity ORPHA:93399
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Optic atrophy, Corneal opacity ORPHA:93400
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Recurrent c... OMIM:256800
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Posterior embryotoxon, Corneal opacity, Hypoplasia of... ORPHA:96125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia, Opacification of the corneal stroma OMIM:615287
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Coloboma OMIM:163200
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Lethargy OMIM:218700
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Familial Dysautonomia
Heterochromia iridis, Corneal erosion, Corneal opacity, Optic atrophy, Abnormal pupil morphology ORPHA:1764
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Optic nerve hypoplasia, Corneal opacity OMIM:301056
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Menkes Disease
Microcephaly, Hypothermia ORPHA:565
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration OMIM:272200
Hurler Syndrome
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration OMIM:607014
Scheie Syndrome
Corneal opacity ORPHA:93474
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Microcornea, Optic nerve hypoplasia, Sclerocornea OMIM:243605
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Abnormality of the anterior pituitary, Absent septum pellucidum, Hyp... ORPHA:438213
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Opacification of the corneal stroma, Retinal degeneration OMIM:252600
Farber Disease
Opacification of the corneal stroma, Macular degeneration, Corneal opacity, Abnormal conjunctiva ... ORPHA:333
Gm1 Gangliosidosis
Optic atrophy, Corneal opacity ORPHA:354
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Cystinosis
Corneal opacity ORPHA:213
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Corneal opacity, Ocular albinism ORPHA:2719
Occipital Horn Syndrome
Hypothermia, Cerebral calcification ORPHA:198
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma, Optic ne... OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma, Optic ne... OMIM:214110
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Abnormal anterior chamber morphology, Limbal dermoid, Sclerocornea OMIM:613001
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma OMIM:601499
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Focal Dermal Hypoplasia
Chorioretinal coloboma, Ectopia lentis, Iris coloboma, Corneal opacity, Hypoplasia of the iris ORPHA:2092
Fucosidosis
Corneal opacity ORPHA:349
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Posterior embryotoxon, Axenfeld anomaly, Ocular anterior segment dysgenes... OMIM:612582
Mucopolysaccharidosis, Type Vii
Corneal opacity OMIM:253220
Incontinentia Pigmenti
Corneal opacity, Cataract, Keratitis, Retinal detachment, Retinal hemorrhage ORPHA:464
Norrie Disease
Remnants of the hyaloid vascular system, Anterior chamber synechiae, Ectopia lentis, Corneal opac... ORPHA:649
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Corneal opacity, Retinal degeneration, Cataract, Opacification of the cor... ORPHA:581
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Mucopolysaccharidosis Type 1
Optic atrophy, Corneal opacity ORPHA:579
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Ectopia pupillae, Mic... OMIM:175780
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma OMIM:251290
Sarcoidosis
Eosinophilia, Hypothermia, Fever, Weight loss ORPHA:797
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Cataract, Opacification of the corneal stroma OMIM:211370
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Retinal detachment, Corneal opacity, Optic disc pallor ORPHA:464311
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
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
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Pigmentary retinopathy, Sclerocornea OMIM:309801
Alpha-Mannosidosis, Infantile Form
Cataract, Astigmatism, Corneal opacity, Optic disc pallor ORPHA:309282
Histiocytoid Cardiomyopathy
Congenital aphakia, Megalocornea, Optic atrophy, Corneal opacity ORPHA:137675
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Cataract, Opacification of the corneal stroma, Corneal neovascularization OMIM:158310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Retinal atrophy, Coloboma, Retinal degeneration, Retinal dysplasia, Cataract, Megalo... OMIM:253280
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Optic nerve hypoplasia, Sclerocornea ORPHA:42775
Schimke Immunoosseous Dysplasia
Astigmatism, Opacification of the corneal stroma OMIM:242900
Fryns Syndrome
Corneal opacity ORPHA:2059
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Fabry Disease
Conjunctival telangiectasia, Corneal opacity, Cataract, Optic atrophy, Corneal dystrophy ORPHA:324
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity, Optic disc pallor ORPHA:464306
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
3Mc Syndrome 3
Corneal opacity OMIM:248340
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal opacity, Keratoconjunctivitis sicca, Optic nerve hypoplasia, Corneal dystrophy ORPHA:495875
Congenital Disorder Of Deglycosylation
Corneal opacity, Corneal ulceration OMIM:615273
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma, Optic di... OMIM:214100
Encephalocraniocutaneous Lipomatosis
Iris coloboma, Corneal opacity ORPHA:2396
Chime Syndrome
Retinal coloboma, Corneal opacity ORPHA:3474
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea, Optic atrophy OMIM:201000
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Posterior embryotoxon, Corneal opacity, Retinal dysplasia, S... ORPHA:2556
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Moebius Syndrome
Corneal opacity ORPHA:570
Neurofibromatosis Type 1
Chorioretinal coloboma, Lisch nodules, Abnormality of retinal pigmentation, Heterochromia iridis,... ORPHA:636
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Retinal degeneration, Optic at... ORPHA:580
Hurler Syndrome
Corneal opacity ORPHA:93473
Neurofibromatosis Type 2
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Spondylodysplastic Ehlers-Danlos Syndrome
Optic disc coloboma, Iris coloboma, Corneal opacity, Posterior subcapsular cataract, Megalocornea... ORPHA:536471
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Optic atrophy, Papilledema, Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Optic atrophy, Papilledema, Corneal opacity ORPHA:217093
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microcornea, Sclerocornea, Optic atrophy ORPHA:564
Oculoectodermal Syndrome
Astigmatism, Opacification of the corneal stroma, Microcornea, Limbal dermoid OMIM:600268
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Lentiglobus, Corneal opacity, Cataract, Abnormal pupil morphology ORPHA:534
Larsen Syndrome
Corneal opacity OMIM:150250
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Lathosterolosis
Cataract, Opacification of the corneal stroma, Microcornea ORPHA:46059
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma OMIM:253010
Ablepharon Macrostomia Syndrome
Corneal opacity, Corneal erosion ORPHA:920
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Optic atrophy OMIM:251300
Tangier Disease
Corneal opacity ORPHA:31150
Limb Body Wall Complex
Iris coloboma, Corneal opacity, Lens subluxation ORPHA:2369
Peters Plus Syndrome
Anterior chamber synechiae, Iris coloboma, Corneal opacity, Cataract, Peters anomaly, Microcornea... ORPHA:709
Wolf-Hirschhorn Syndrome
Megalocornea, Optic atrophy, Iris coloboma, Sclerocornea ORPHA:280
Stuve-Wiedemann Syndrome
Opacification of the corneal stroma OMIM:601559
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Corneal opacity, Conjunctivitis, Keratitis, Astigmatism ORPHA:2273
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Corneal opacity ORPHA:2072
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Pterygium, Opacification of the corneal stroma,... ORPHA:910
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Cockayne Syndrome B
Pigmentary retinopathy, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Mi... OMIM:133540
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Smith-Lemli-Opitz Syndrome
Cataract, Optic atrophy, Iris coloboma, Sclerocornea ORPHA:818
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma OMIM:253200
Williams Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Flat cornea, Me... ORPHA:904
Osteogenesis Imperfecta
Corneal opacity ORPHA:666
Gaucher Disease
Corneal opacity ORPHA:355
Mucolipidosis Ii Alpha/Beta
Megalocornea, Opacification of the corneal stroma OMIM:252500
Cockayne Syndrome A
Pigmentary retinopathy, Retinal pigment epithelial mottling, Cataract, Opacification of the corne... OMIM:216400
Microphthalmia, Syndromic 2
Developmental cataract, Remnants of the hyaloid vascular system, Iris coloboma, Microcornea, Reti... OMIM:300166
Hutchinson-Gilford Progeria Syndrome
Corneal opacity, Corneal ulceration ORPHA:740
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Fraser Syndrome 1
Corneal opacity OMIM:219000
Bartsocas-Papas Syndrome 1
Axillary pterygium, Pterygium, Opacification of the corneal stroma, Corneal ulceration, Popliteal... OMIM:263650
Wiedemann-Rautenstrauch Syndrome
Cataract, Optic atrophy, Corneal opacity, Pigmentary retinopathy ORPHA:3455
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Digeorge Syndrome
Posterior embryotoxon, Sclerocornea OMIM:188400
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Microphthalmia, Syndromic 6
Microcornea, Coloboma, Sclerocornea OMIM:607932
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Coloboma 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 Ptma

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 Ptma.

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

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MGI Allele Allele Type Produced
Ptmatm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ptmatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Ptmatm404304(L1L2_Bact_P) Targeting vectors

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