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Gene: Zdhhc23 MGI:2685625

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Gene Summary

Name:
zinc finger, DHHC domain containing 23
Synonyms:
LOC385651,  LOC332175

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytosis Zdhhc23tm1.1(KOMP)Vlcg HOM Early adult 7.70×10-05
hyperactivity Zdhhc23tm1.1(KOMP)Vlcg HOM Early adult 6.19×10-05
corneal opacity Zdhhc23tm1.1(KOMP)Vlcg HOM Early adult 4.06×10-05

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
Brain  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 50% (2 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 75% (3 of 4)
Kidney  Section images heterozygote 25% (1 of 4)
Lung  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Ovary  Wholemount images  Section images heterozygote 50% (2 of 4)
Oviduct  Wholemount images  Section images heterozygote 50% (2 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images  Section images heterozygote 75% (3 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Trachea  Wholemount images heterozygote 50% (2 of 4)
Uterus  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 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)
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)
Cerebral cortex 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)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye 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)
Harderian gland 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 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
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)
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)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 4)
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
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
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)
Thymus 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

39 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Zdhhc23 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 Zdhhc23 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Thrombocythemia 2
Thrombocytosis OMIM:601977
Dermoids Of Cornea
Corneal opacity OMIM:304730
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Morquio Syndrome C
Corneal opacity OMIM:252300
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Hyperlysinemia, Type I
Hyperactivity, Anemia, Ectopia lentis OMIM:238700
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Galactosialidosis
Corneal opacity ORPHA:351
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia OMIM:604416
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Winchester Syndrome
Corneal opacity OMIM:277950
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Chemosis OMIM:614034
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... OMIM:152950
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... OMIM:261600
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia ORPHA:281090
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Self-injurious behavior, Thrombocyt... ORPHA:324636
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia ORPHA:290
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Beta-Ketothiolase Deficiency
Thrombocytosis, Anorexia, Leukocytosis, Agitation, Oral aversion ORPHA:134
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Cogan Syndrome
Keratitis, Leukocytosis, Conjunctivitis, Thrombocytosis, Anemia ORPHA:1467
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Lymphopenia, Thrombocytosis, Anemia OMIM:615934
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Fish-Eye Disease
Splenomegaly, Corneal opacity ORPHA:79292
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Leukocytosis, Leukopenia, Thrombocytosis, Anemia ORPHA:20
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia ORPHA:411777
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Sialidosis Type 2
Splenomegaly, Corneal opacity ORPHA:87876
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... OMIM:612469
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Agitation, Thrombocytos... OMIM:615688
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93476
Alpha-Mannosidosis
Splenomegaly, Cataract, Corneal opacity ORPHA:61
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Poems Syndrome
Thrombocytosis, Polycythemia ORPHA:2905
Neuroleptic Malignant Syndrome
Leukocytosis, Agitation, Dysphagia, Thrombocytosis, Thrombocytopenia ORPHA:94093
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... OMIM:105650
Wilson Disease
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Kayser-Fleischer ring, Anemia ORPHA:905
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Scheie Syndrome
Corneal opacity OMIM:607016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... OMIM:301074
Alpha-Mannosidosis, Adult Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Ectopia ... ORPHA:96125
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume OMIM:222470
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Dysphagia ORPHA:93399
Sialidosis Type 1
Splenomegaly, Cataract, Corneal opacity ORPHA:812
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Corneal opacity ORPHA:213
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia ORPHA:84064
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Brucellosis
Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis... ORPHA:1304
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Astigmatism, Corneal opacity, Thrombocytopenia OMIM:301056
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion... ORPHA:1830
Ocular Cystinosis
Corneal crystals ORPHA:411641
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Farber Disease
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... ORPHA:333
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Opacification of the corneal stroma OMIM:601853
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Congenital Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract ORPHA:912
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Gm1 Gangliosidosis
Corneal opacity, Splenomegaly, Hepatosplenomegaly, Dysphagia, Oral aversion ORPHA:354
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Multiple Sulfatase Deficiency
Splenomegaly, Cataract, Corneal opacity ORPHA:585
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation ORPHA:2719
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Mucopolysaccharidosis Type 3
Hyperactivity, Cataract, Corneal opacity, Aggressive behavior, Hypersexuality, Splenomegaly, Disi... ORPHA:581
Tangier Disease
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly ORPHA:31150
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma OMIM:251290
Schimke Immunoosseous Dysplasia
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor... OMIM:242900
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Leukocytosis, Conjunctivitis, Abnormality of neutrophil physiology, Impai... ORPHA:2968
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Incontinentia Pigmenti
Cataract, Corneal opacity, Eosinophilia, Keratitis, Attention deficit hyperactivity disorder ORPHA:464
Doors Syndrome
Thrombocytosis, Cataract ORPHA:79500
Multiple Sulfatase Deficiency
Splenomegaly, Corneal opacity OMIM:272200
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Hurler Syndrome
Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:607014
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity ORPHA:239
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Lathosterolosis
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... ORPHA:46059
Tangier Disease
Splenomegaly, Opacification of the corneal stroma OMIM:205400
Fucosidosis
Corneal opacity ORPHA:349
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Corneal op... ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Self-injurious behavior, Anemi... ORPHA:534
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Mucopolysaccharidosis Type 2
Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Splenomegaly, Abnormal temper t... ORPHA:580
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratoconjunctivitis sicca,... ORPHA:495875
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Astigmatism, Abnormal repetitive mannerisms, Corneal opacity ORPHA:464306
Congenital Disorder Of Deglycosylation 1
Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow response... OMIM:615273
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Anemia ORPHA:324
Focal Dermal Hypoplasia
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis ORPHA:2092
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... OMIM:158310
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism ORPHA:309282
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Hypoplasia of the thymus, Opacification of the corneal stroma OMIM:214110
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Moebius Syndrome
Corneal opacity, Dysphagia ORPHA:570
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos... ORPHA:2072
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:274000
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Mucopolysaccharidosis Type 1
Splenomegaly, Corneal opacity ORPHA:579
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... OMIM:175780
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Hurler Syndrome
Splenomegaly, Corneal opacity ORPHA:93473
Oculoectodermal Syndrome
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Fryns Syndrome
Corneal opacity ORPHA:2059
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
3Mc Syndrome 3
Corneal opacity OMIM:248340
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Anemia ORPHA:79396
Gaucher Disease
Pancytopenia, Corneal opacity, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia ORPHA:355
Neurofibromatosis Type 1
Cataract, Corneal opacity, Chronic myelogenous leukemia, Attention deficit hyperactivity disorder... ORPHA:636
Wilson Disease
Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Dysphagia, Thrombocytopenia OMIM:277900
Carpenter Syndrome 1
Microcornea, Polysplenia, Opacification of the corneal stroma OMIM:201000
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Kindler Epidermolysis Bullosa
Corneal opacity, Conjunctivitis, Anemia, Dysphagia ORPHA:2908
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cataract, Corneal opacity ORPHA:1052
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Mucopolysaccharidosis Type 6
Splenomegaly, Opacification of the corneal stroma ORPHA:583
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... OMIM:607330
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma, Dysphagia OMIM:214100
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Meckel Syndrome
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Larsen Syndrome
Corneal opacity OMIM:150250
Osteogenesis Imperfecta
Corneal opacity, Thrombocytopenia, Dysphagia ORPHA:666
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Self-injurious behavior, Attention deficit hyperactivity disorder, Iris c... ORPHA:818
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Williams Syndrome
Flat cornea, Cataract, Corneal opacity, Blue irides, Aplasia/Hypoplasia of the iris, Compulsive b... ORPHA:904
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma OMIM:614866
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:217085
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma OMIM:251300
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Corneal opacity, Hepatosplenomegaly ORPHA:217093
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis ORPHA:2273
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Dysphagia OMIM:601559
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Attention deficit hyperac... OMIM:188400
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Wolf-Hirschhorn Syndrome
Megalocornea, Iris coloboma, Sclerocornea ORPHA:280
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium ORPHA:910
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Megalocornea, Opacification of the corneal stroma OMIM:252500
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Cockayne Syndrome B
Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c... OMIM:133540
Fraser Syndrome 1
Corneal opacity OMIM:219000
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity ORPHA:740
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity ORPHA:3455
Cockayne Syndrome A
Splenomegaly, Cataract, Opacification of the corneal stroma OMIM:216400
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma OMIM:253280
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Fryns Syndrome
Polysplenia, Opacification of the corneal stroma OMIM:229850
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340

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 Zdhhc23

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 Zdhhc23.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
S-Acylation controls functional coupling of BK channel pore-forming α-subunits and β1-subunits. The Journal of biological chemistry (June 2019) Zdhhc23tm1(KOMP)Vlcg PMC6690687

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zdhhc23tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Zdhhc23tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zdhhc23tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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