Gene Summary

pleckstrin homology domain containing, family A member 5
PEPP2,  2810431N21Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
narrow eye opening Plekha5em1(IMPC)Tcp HOM   Early adult 9.43×10-07
enlarged urinary bladder Plekha5em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Plekha5em1(IMPC)Tcp HOM Early adult 0.00
cataract Plekha5em1(IMPC)Tcp HOM   Early adult 6.60×10-05
enlarged lymph nodes Plekha5em1(IMPC)Tcp HOM Early adult 0.00
increased spleen weight Plekha5em1(IMPC)Tcp HOM Early adult 9.17×10-06
decreased mean corpuscular hemoglobin Plekha5em1(IMPC)Tcp HOM Early adult 2.47×10-05
abnormal placement of pupils Plekha5em1(IMPC)Tcp HOM Early adult 3.87×10-05
corneal vascularization Plekha5em1(IMPC)Tcp HOM   Early adult 4.04×10-05
abnormal retina blood vessel morphology Plekha5em1(IMPC)Tcp HOM   Early adult 1.44×10-05
abnormal retina vasculature morphology Plekha5em1(IMPC)Tcp HOM   Early adult 1.50×10-05
increased startle reflex Plekha5em1(IMPC)Tcp HOM Early adult 6.75×10-06

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

94 Images


XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

91 Images

Gross Pathology and Tissue Collection


10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Plekha5 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 Plekha5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Aniridia 1
Bilateral ptosis, Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic ... OMIM:106210
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Iris cyst, Ptosis, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure OMIM:620086
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno... OMIM:617388
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae ORPHA:1885
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Tremor, Optic disc pallor OMIM:165300
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Downslanted palpebral fissures, Hepatomegaly, Epicanthus OMIM:614882
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Microphthalmia/Coloboma 10
Optic pit, Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Corneal neovascularization, Entropion, Keratitis, Conjunctivitis, Cataract, Choreoathe... OMIM:278730
Bardet-Biedl Syndrome 18
Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microcornea, Long eyelashes, Cryptophthalmos, Sclerocornea, Ectopia pupillae, Epican... OMIM:615877
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Astigmatism, Ectopia pupillae, Unilateral narrow palpebral fissure, Cataract OMIM:618727
Woolly Hair
Cataract, Sparse lateral eyebrow, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Cataract, Long eyelashes OMIM:190330
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Retinal atrophy, Corneal opacity, Cone/cone-rod dystrophy, Abnormality of retin... ORPHA:85167
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Corneal opacity, Cone/con... OMIM:608940
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity... OMIM:175780
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Macular edema, Macular exudate, Chorioretinal atroph... ORPHA:891
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Ptosis, Cho... ORPHA:1473
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Shallow anterior chamber, Intraretinal exudate, Peripheral vitr... OMIM:305390
Phacoanaphylactic Uveitis
Cystoid macular edema, Hyphema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseud... ORPHA:209959
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Downslanted palpebral fissures, Spl... ORPHA:2969
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Bilateral ptosis, Corneal neovascularization, Hepatomegaly, Generalized aminoacidu... ORPHA:404454
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Hematuria, Melena, Keratoconjunctivitis, Eosinophilia, Cataract, Opac... OMIM:158310
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr... ORPHA:263479
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Hypospadias, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior em... OMIM:180500
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Retinal nonattachment... OMIM:221900
X-Linked Recessive Ocular Albinism
Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma... ORPHA:54
Eales Disease
Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Hec Syndrome
Cardiomyopathy, Developmental cataract, Abnormal retinal vascular morphology, Arrhythmia, Abnorma... ORPHA:2119
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, T lymphocytopenia, Pulmonic stenosis, Ectopia pupillae, Epicanthus, A... OMIM:618223
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Vitreous hemorrhage, Retinal detachment, Microcornea, Retinal arteriolar occlusion, Developmental... OMIM:193220
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Leber Congenital Amaurosis 1
Hepatomegaly, Keratoconus, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessel... OMIM:204000
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Microcornea, Glial remnants anterior to the optic ... ORPHA:91495
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Vacuolated lymphocytes, Macular degenerati... OMIM:204200
Leber Congenital Amaurosis 2
Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara... OMIM:204100
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma, Epicanthus ORPHA:2489
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:611040
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Hepatic fibrosis, Anisocoria, Retinal degeneration, Stage 5 c... OMIM:613550
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
22Q11.2 Deletion Syndrome
Corneal neovascularization, Gastrointestinal hemorrhage, Upslanted palpebral fissure, Hypertensiv... ORPHA:567
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Kid Syndrome
Corneal neovascularization, Corneal erosion, Aplastic/hypoplastic lacrimal glands, Limbal stem ce... ORPHA:477
N Syndrome
Abnormality of chromosome stability, Cryptorchidism, Hypospadias OMIM:310465
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Iris coloboma OMIM:120433
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Hypertension, Abnormality of retinal pigmentation, Congenita... ORPHA:3156
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Upslanted palpebral fissure, Epicanthus ORPHA:2528
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Warburg-Cinotti Syndrome
Corneal neovascularization, Retinal dystrophy, Limbal stem cell deficiency, Decreased corneal thi... OMIM:618175
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Mevalonic Aciduria
Cataract, Downslanted palpebral fissures, Splenomegaly ORPHA:29
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Jaundice, Corneal opacity, Abnormality of retinal pigmentation, Thrombocyto... ORPHA:290
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hypospadias, Hepatomegaly, Anemia of inadequate production, Hypertrop... OMIM:613673
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Blepharophimosis, Iris coloboma ORPHA:3374
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Ptosis, Epicanthus ORPHA:1373
Cyanosis, Transient Neonatal
Jaundice, Hepatomegaly, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Intention tremor, Abnormality of the liver, Cataract, Rod-cone dystrophy, Pigmentary reti... OMIM:614307
Short Syndrome
Abnormal anterior chamber morphology, Telecanthus, Corneal opacity, Megalocornea, Hypoplasia of t... ORPHA:3163
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Abnormal lacrimal duct morphology, Hypopl... ORPHA:2363
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Cardiomyopathy, Tremor, Sid... OMIM:222300
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Alagille Syndrome
Hepatomegaly, Keratoconus, Corneal dystrophy, Hypertension, Cholestasis, Abnormality of the urete... ORPHA:52
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corneal opacity,... OMIM:152950
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Telangiectasia, Leukocoria OMIM:219250
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Highly arched eyebrow, Rieger anomaly, Ptosis, Biliary tract abnor... OMIM:194190
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Hepatomegaly, Downslanted palpebral fissures, Epicanthus, Cataract, Iris coloboma ORPHA:79326
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Knobloch Syndrome 1
Iris transillumination defect, Telecanthus, Retinal detachment, Band keratopathy, Chorioretinal a... OMIM:267750
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Anemia, Jaundice, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypertension, Microcori... OMIM:609049
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Abnormal peritoneum morphology, Hyperten... ORPHA:1764
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Mowat-Wilson Syndrome
Broad eyebrow, Hypospadias, Microcornea, Pulmonic stenosis, Ptosis, Downslanted palpebral fissure... OMIM:235730
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Retinopathy, Blepharitis, Thro... ORPHA:158029
Intermediate Uveitis
Band keratopathy, Vasculitis, Cystoid macular edema, Vitreous snowballs, Optic neuritis, Vitreous... ORPHA:279914
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascit... OMIM:256550
Alexander Disease
Microcoria OMIM:203450
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Angina pectoris, Corneal opacity, Splenomegaly ORPHA:79292
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia, Cataract ORPHA:67048
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Highly arched eyebrow, Iris atrophy, Hyphema, Pulmonic stenosis, Aortic val... ORPHA:261552
Congenital Fibrosis Of Extraocular Muscles
Congenital fibrosis of extraocular muscles, Torticollis, Optic nerve hypoplasia, Levator palpebra... ORPHA:45358
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia ORPHA:2151
Refsum Disease, Classic
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Ptosis, Abnormal renal physiology, Arrhyt... OMIM:266500
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Duane Retraction Syndrome
Short palpebral fissure, Aniridia, Optic disc hypoplasia, Ectopic kidney, Blepharophimosis, Micro... ORPHA:233
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Hypertension, Asplenia, Chemosis, Nephritis, Epistaxis,... OMIM:614034
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Nasolacrimal duct obstruction, Retina... OMIM:612109
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Downslanted palpebral fissures, Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Oculodentodigital Dysplasia, Autosomal Recessive
Short palpebral fissure, Telecanthus, Microcornea, Persistent pupillary membrane, Sparse eyelashe... OMIM:257850
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Arrhythmia, Cataract, Hepatic steatosis OMIM:606069
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Revesz Syndrome
Aplastic anemia, Macrocytic anemia, Exudative retinopathy, Megalocornea, Bone marrow hypocellular... OMIM:268130
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Macular edema, Normochromic anemia, Glomerular sc... ORPHA:247691
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Intention tremor, Ptosis, Cataract, Tortuosity of conjunctival vessels ORPHA:284289
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, D... OMIM:610377
Trisomy 9P
Downslanted palpebral fissures, Abnormal pupil morphology ORPHA:236
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme... ORPHA:585
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Telecanthus, Absent inner eyelashes, Mi... ORPHA:1791
Beta-Thalassemia Intermedia
Cirrhosis, Hepatomegaly, Jaundice, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro... ORPHA:231222
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Jaundice, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cystic renal dysplasia OMIM:613730
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Anemia, Jaundice, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Sialidosis Type 1
Tremor, Corneal opacity, Retinopathy, Urinary excretion of sialylated oligosaccharides, Splenomeg... ORPHA:812
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epistaxis, Sple... OMIM:314050
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Palpebral edema, Hepatomegaly, Jaundice, Polycystic kidney dysplasia, Intr... OMIM:214110
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Reduced systolic function, Cataract, Dilated cardiomyopathy, Hepatic ... OMIM:618805
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy, Ptosis, Re... ORPHA:254913
Joubert Syndrome 9
Astigmatism, Retinal dystrophy, Hepatic fibrosis, Cataract, Stage 5 chronic kidney disease OMIM:612285
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Cataract, Increased left ventricular end-diastolic volume, Dilated cardi... OMIM:615184
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Refsum Disease
Heart block, Cardiomyopathy, Retinopathy, Ptosis, Abnormality of retinal pigmentation, Splenomega... ORPHA:773
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Attenuation of retinal... OMIM:615986
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Epistaxis, Hepatosplenomegaly... OMIM:612840
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Vogt-Koyanagi-Harada Disease
Cataract, Abnormal eyelash morphology, Abnormal eyebrow morphology, Retinal detachment ORPHA:3437
Intellectual Developmental Disorder, Autosomal Dominant 70
Short palpebral fissure, Retinal telangiectasia, Highly arched eyebrow, Optic nerve hypoplasia, R... OMIM:620157
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leuk... OMIM:259720
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Hepatomegaly, Hypochromic microcytic anemia, Jaundice, Decreased ... ORPHA:231214
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Bone Marrow Failure Syndrome 3
Aplastic anemia, Astigmatism, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia, In... OMIM:617052
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Intention tremor, Cataract, Rod-cone dystrophy OMIM:612674
Sandhoff Disease, Infantile Form
Mitral regurgitation, Cherry red spot of the macula, Hepatosplenomegaly, Exaggerated startle resp... ORPHA:309155
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Wound Botulism
Ptosis, Mydriasis, Urinary retention, Cardiac arrest ORPHA:178475
Iatrogenic Botulism
Mydriasis, Urinary retention, Ptosis, Orthostatic hypotension ORPHA:254509
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Corneal opacity, Ascites, Develo... ORPHA:93400
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Palpebral edema, Pyelonephritis, Telecanthus, Unilateral renal agenesis... OMIM:181270
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Renal insufficiency, Ptosis, Pulmonary lymphangiectasia, Cataract, Nephropathy OMIM:247410
Papillorenal Syndrome
Hypertension, Stage 5 chronic kidney disease, Lens luxation, Chorioretinal atrophy, Orbital cyst,... OMIM:120330
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosaccharid... ORPHA:309288
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Re... ORPHA:98977
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Nephrolithiasis OMIM:619365
Sickle Cell Disease
Hepatomegaly, Hematuria, Jaundice, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis... OMIM:603903
Retinal hemorrhage, Anisocoria, Abnormal optic nerve morphology, Conjunctival hyperemia, Abnormal... ORPHA:863
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Downslanted pa... OMIM:620609
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero... ORPHA:790
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Corneal neovascularization, Hypospadias, Unilateral renal agenesis, A... OMIM:308205
Intestinal Botulism
Mydriasis, Ptosis ORPHA:178481
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Incr... ORPHA:232
Toxin-Mediated Infectious Botulism
Mydriasis, Ptosis ORPHA:230800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Knobloch Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ... ORPHA:1571
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Corneal opacity, Visceromegaly, Hepatosplenomegaly, Cherry red spot ... ORPHA:93399
Facial Spasm
Anisocoria OMIM:134300
Amyloidosis, Finnish Type
Orthostatic hypotension, Decreased heart rate variability, Cardiomyopathy, Optic neuropathy, Latt... OMIM:105120
Retinoblastoma, Retinal calcification, Vitritis, Leukocoria, Vitreous hemorrhage, Leukemia OMIM:180200
Sitosterolemia 1
Corneal arcus, Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic... OMIM:210250
Inhalational Botulism
Mydriasis, Urinary retention, Ptosis ORPHA:254504
Miller Fisher Syndrome
Mydriasis, Ptosis, Anisocoria ORPHA:98919
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of th... ORPHA:98791
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Foodborne Botulism
Mydriasis, Urinary retention, Ptosis, Arrhythmia ORPHA:228371
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Increa... OMIM:268800
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Infant Botulism
Mydriasis, Hypertension, Cardiac arrest, Hypotension, Ptosis, Keratoconjunctivitis sicca ORPHA:178478
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis, Anisocoria ORPHA:289483
Oculocerebrorenal Syndrome Of Lowe
Oligosacchariduria, Aminoaciduria, Anemia, Hematuria, Renal insufficiency, Hypercalciuria, Cornea... ORPHA:534
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Methemoglobinemia ORPHA:621
Aniridia-Absent Patella Syndrome
Cataract, Ptosis, Aniridia ORPHA:1069
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Ascites, Displacement of the urethral meatus, Telangiectasia of the skin, Leu... ORPHA:1556
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjunctivitis, Cataract OMIM:612843
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Aplasia/Hyp... ORPHA:649
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro... OMIM:300578
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Anisocoria OMIM:231550
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Iris coloboma ORPHA:139471
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ectropion, Anemia, Athetosis, Corneal opacity, Ureteral stenosis, Choroideremia, Iris hypopigment... ORPHA:2719
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid... OMIM:268315
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Tremor, Hematochezia, Cataract, ... ORPHA:79095
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re... OMIM:243605
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Pelvic kidney, Vesicoureteral reflux, Anisocoria, Hydronephrosis, Epicanth... OMIM:618653
Agel Amyloidosis
Bilateral ptosis, Blepharochalasis, Corneal ulceration, Cardiomyopathy, Abnormal spleen morpholog... ORPHA:85448
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Jaundice, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Micropenis, Neutropenia OMIM:620501
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia OMIM:250800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Peters anomaly, Persistent pupillary membrane OMIM:613150
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia OMIM:608885
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Hydronephrosis, Tremor, Exaggerated startle response OMIM:620327
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa... OMIM:269200
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Hypertension, Nephrotic syndrome, Nephritis, Pro... OMIM:203780
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Astigmatism, Persistence of hemoglobin F OMIM:619769
Stiff-Person Syndrome
Anemia, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia OMIM:184850
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Nephrocalcinosis, Irido... OMIM:240300
Aniridia 3
Cataract, Aniridia OMIM:617142
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Head tremor, Abnormal optic nerve morphology, Anisocoria ORPHA:99949
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Hypotension, Limb dystonia, Exaggerated... OMIM:608643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Pulmonic sten... OMIM:253800
Anisopoikilocytosis, Hepatomegaly, Intrahepatic cholestasis, Hypoplasia of penis, Microcornea, Pt... ORPHA:46059
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy, Iris atrophy OMIM:620422
Serotonin Syndrome
Mydriasis, Acute kidney injury, Hypertension, Tremor, Hypotension, Tachycardia ORPHA:43116
Congenital Syphilis
Myocarditis, Optic atrophy, Anemia, Pancreatitis, Lymphadenopathy, Chorioretinitis, Nephrotic syn... ORPHA:499009
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Anisocoria ORPHA:90658
Diamond-Blackfan Anemia
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... ORPHA:124
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Proboscis Lateralis
Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Ureteral agenesis, Duplicat... ORPHA:141099
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Ptosis, Orthostatic hypotension, Anisocoria OMIM:615510
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Blau Syndrome
Large vessel vasculitis, Anemia, Lymphadenopathy, Hypertension, Posterior uveitis, Nephropathy, P... ORPHA:90340
Mydriasis, Urinary retention, Arrhythmia ORPHA:1267
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys... ORPHA:91500
Cockayne Syndrome Type 3
Retinal atrophy, Cardiomyopathy, Splenomegaly, Retinal hemorrhage, Cataract, Keratoconjunctivitis... ORPHA:90324
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Posterior uveitis, Anterior chamber cells, Retinal hemorrh... ORPHA:79098
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cherry red spot of the macula, Exaggerated startle response ORPHA:309246
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Exaggerated startle response, Optic disc pallor OMIM:609541
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Downslanted palpebral fissures, Epicanthus, Persistence of hemoglobin F OMIM:617101
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Cocaine Intoxication
Mydriasis, Ischemic stroke, Acute kidney injury, Prolonged QT interval, Hematuria, Supraventricul... ORPHA:90068
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly... OMIM:300755
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Telecanthus, Exaggerated startle response, Long palpebral fissure, Dystonia, Epicanthus, Upslante... ORPHA:438216
Lymphedema-Distichiasis Syndrome
Ectropion, Corneal erosion, Distichiasis, Conjunctivitis, Ptosis, Proteinuria, Arrhythmia, Catara... ORPHA:33001
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... OMIM:612561
Pituitary Apoplexy
Mydriasis, Normochromic anemia, Hypertension, Hypotension, Ptosis ORPHA:95613
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Exaggerated startle response, Optic disc pallor ORPHA:320406
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Iris coloboma, Telecanthus, Microcornea, Ptosis, Eyelid coloboma, Ca... OMIM:229400
Ifap Syndrome 2
Cataract, Posterior blepharitis, Keratitis, Keratoconjunctivitis sicca OMIM:619016
Traboulsi Syndrome
Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Alternating Hemiplegia Of Childhood
Mydriasis, Tremor, Cardiomyopathy, Cardiac conduction abnormality, Dystonia, Thin eyebrow, Arrhyt... ORPHA:2131
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Micropenis OMIM:610125
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, ... ORPHA:699
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Cardiomyopathy, Exaggerated startle response, H... ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Ptosis, Exaggerated startle response, Long eyelashes OMIM:617301
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Optic disc hypoplasia, Microcornea, Vesicoureteral reflux, Ptosis, Chori... ORPHA:959
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Telecanthus, Hypoplasia of penis, Hydronephrosis, Abnormal hemoglobin, Epi... ORPHA:847
Smooth Muscle Dysfunction Syndrome
Mydriasis, Hypertension, Retinal infarction, Pulmonary arterial hypertension OMIM:613834
Scorpion Envenomation
Myocarditis, Mydriasis, Congestive heart failure, Acute kidney injury, Prominent U wave, Hyperten... ORPHA:466677
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... OMIM:105650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Mydriasis, Bidirectional shunt, Anuria, Peritonitis, Megacyst... OMIM:619351
Bickerstaff Brainstem Encephalitis
Mydriasis, Ptosis, Anisocoria ORPHA:79138
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response, Epicanthus OMIM:618056
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Exaggerated startle response, Ptosis, Epicanthus, Lacticaciduria OMIM:620451
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Thick eyebrow, Exaggerated startle response, Long eyelashes OMIM:617281
Superficial Siderosis
Functional abnormality of the bladder, Subarachnoid hemorrhage, Internal hemorrhage, Anisocoria ORPHA:247245
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia OMIM:250790
Neuroocular Syndrome
Highly arched eyebrow, Stellate iris, Nasolacrimal duct obstruction, Downslanted palpebral fissur... OMIM:619539
Meckel Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Ureteral duplication, Accessory spleen, Microco... ORPHA:564
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Exaggerated startle response OMIM:616881
Arachnoid Cyst
Mydriasis, Urinary incontinence, Urinary bladder sphincter dysfunction, Ptosis, Subarachnoid hemo... ORPHA:2356
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Partial development of the penile shaft, Exaggerated startle response, Bradycardia OMIM:608800
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Alagille Syndrome 1
Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, Renal tubular acidosis,... OMIM:118450
Phace Syndrome
Retinal vascular malformation, Abnormality of the orbital region, Optic nerve hypoplasia, Heteroc... ORPHA:42775
Schwannomatosis, Vestibular
Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac... OMIM:101000
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Anter... ORPHA:67036
Hematemesis, Mydriasis, Hepatomegaly, Hypotension, Lymphadenitis, Conjunctival hyperemia, Splenom... ORPHA:707
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P... OMIM:305000
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Nephroca... OMIM:260400
Witteveen-Kolk Syndrome
Short palpebral fissure, Medial flaring of the eyebrow, Hypospadias, Phimosis, Anisocoria, Shallo... OMIM:613406
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Mydriasis, Optic nerve compression, Optic neuropathy, Epicanthus OMIM:619727
Vascular Ehlers-Danlos Syndrome
Hypospadias, Telecanthus, Keratoconus, Abnormal eyelash morphology, Hypertension, Transient ische... ORPHA:286
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lead Poisoning
Abnormal T cell morphology, Anemia, Hypertension, Chronic kidney disease, Imbalanced hemoglobin s... ORPHA:330015
Blau Syndrome
Iritis, Band keratopathy, Cystoid macular edema, Hypertension, Pericarditis, Nongranulomatous uve... OMIM:186580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, H... OMIM:301040
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Optic atrophy, Tremor, Exaggerated startle response, Dystonia, Cherry red spot of the macula, Lar... ORPHA:845
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal conjunctiva morphology, Enlarged l... ORPHA:797
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Glomerulonephr... ORPHA:99867
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Black pigment gallstones, Hypertension, Nephrolithiasis, Hemolytic anemia, Aortic valve stenosis,... ORPHA:56
Sponastrime Dysplasia
Hypospadias, Congenital aphakia, Microcoria, Epicanthus, Cataract, Neutropenia ORPHA:93357
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Tremor, Exaggerated startle response OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Thrombocytopenia, Exaggerated startle response OMIM:620423
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle response, Almond-shaped palpe... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Telecanthus, Pelvic kidney, Grade III vesicoureteral reflux, E... OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Exaggerated startle response, Epiblepharon OMIM:618367


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 Plekha5

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 Plekha5.

No publications found that use IMPC mice or data for Plekha5.

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MGI Allele Allele Type Produced
Plekha5tm452423(L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Plekha5em1(IMPC)Tcp Exon Deletion Mice
Plekha5tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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