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Gene: Ppfibp2 MGI:894649

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Gene Summary

Name:
PTPRF interacting protein, binding protein 2 (liprin beta 2)
Synonyms:
liprin beta 2,  Cclp1

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
thick skin Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
decreased grip strength Ppfibp2em1(IMPC)Tcp HOM Middle aged adult 3.74×10-05
enlarged lymph nodes Ppfibp2em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal stomach morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal retina blood vessel morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.13×10-15
abnormal retina vasculature morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.66×10-13
abnormal optic disk morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.13×10-15
persistence of hyaloid vascular system Ppfibp2em1(IMPC)Tcp HOM Late adult 4.20×10-15
abnormal seminal vesicle morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal lens morphology Ppfibp2em1(IMPC)Tcp HOM   Late adult 3.64×10-05
enlarged lymph nodes Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Ppfibp2em1(IMPC)Tcp HOM Early adult 0.00
decreased grip strength Ppfibp2em1(IMPC)Tcp HOM Late adult 4.83×10-06
abnormal vocalization Ppfibp2em1(IMPC)Tcp HOM   Late adult 2.44×10-07

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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.

Eye Morphology

Images Ophthalmoscopy

50 Images

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Eye Morphology

Images Slit Lamp

169 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

96 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

6 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Ppfibp2 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 Ppfibp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:612712
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Bilateral cleft palate, Corneal opacity, Posterior ... ORPHA:1473
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall... OMIM:609913
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Vitreoretinochoroidopathy
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Camos Syndrome
Optic atrophy, Nephrotic syndrome, Renal insufficiency ORPHA:83472
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Cleft palate, Bifid uvula, Retinal vascular tortuosity OMIM:618768
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pallor OMIM:616171
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Cone-Rod Dystrophy, X-Linked, 3
Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab... OMIM:300476
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Cataract, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Corneal opacity, Hypogonadism, Abnormal stomach m... ORPHA:281090
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Combined Saposin Deficiency
Optic atrophy, Hepatomegaly, Splenomegaly OMIM:611721
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Adenomat... ORPHA:157798
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Sensory axonal neuropathy, Dysphagia, Cataract ORPHA:329314
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia OMIM:271930
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Left ventricular hypertrophy OMIM:618632
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract, Optic disc pallor OMIM:616732
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Retinal vascular tortuosity ORPHA:104
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... OMIM:613581
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Premature pubarche, Gastroesophageal reflux, ... ORPHA:457205
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dysphagia ORPHA:1171
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Achlorhydria, Opacification of the corneal stroma, Retinal degene... OMIM:252650
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Rod-cone dystrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Astigmatism, Celiac disease, Calcium oxalate nephrolithiasis OMIM:248000
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Wildervanck Syndrome
Lens subluxation, Facial palsy, Webbed neck, Pseudopapilledema ORPHA:3456
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Dysphagia, Optic disc pallor OMIM:617086
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria OMIM:258501
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy, Dysphagia OMIM:620221
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascu... OMIM:221900
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Dysphagia, Pigmentary retinopathy OMIM:164500
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, ... OMIM:249660
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Wildervanck Syndrome
Webbed neck, Pseudopapilledema OMIM:314600
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor OMIM:618970
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... OMIM:600132
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leber Congenital Amaurosis 14
Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613341
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal arterial occlusion, Abn... ORPHA:98977
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Facial palsy, Abnormal au... ORPHA:97229
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Optic disc pallor ORPHA:3173
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc... ORPHA:263479
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Diencephalic Syndrome
Optic atrophy, Long penis ORPHA:1672
Optic Atrophy 14
Optic disc pallor OMIM:620550
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corneal opacity,... OMIM:152950
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Gastroesophageal reflux, Cone/cone-rod dystrophy, Retinal degeneration, Cryptorchi... OMIM:249270
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Optic disc coloboma, Flat cornea, ... OMIM:602499
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Conjunctivitis, Abs... ORPHA:448237
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Optic disc pallor, Attenuation of ... OMIM:612095
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Retinal dystrophy, Mic... ORPHA:899
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti... OMIM:615233
Stt3B-Cdg
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Peripheral axonal neuropathy,... ORPHA:496790
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Optic disc hypoplasia, Colo... ORPHA:324737
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Triple A Syndrome
Optic atrophy, Anterior hypopituitarism, Achalasia, Motor axonal neuropathy, Iris coloboma ORPHA:869
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Cataract, Rod-cone dyst... OMIM:612674
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
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
Zellweger Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Clitoral hypertrophy, Hepatomegaly, Hypospadias... ORPHA:912
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract ORPHA:163937
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Trisomy 13
Optic atrophy, High, narrow palate, Abnormality of the ureter, Hydronephrosis, Displacement of th... ORPHA:3378
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Neurogenic bladder, Hydronephrosis, Dysphagia, Cataract, Testicular a... OMIM:222300
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Facial palsy, Splenomegaly OMIM:615085
Micro Syndrome
Optic atrophy, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, High palate, Clitoral ... ORPHA:2510
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Visceromegaly, Corneal opacity, Protruding tongue, Hepatosplenomegal... ORPHA:93399
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Oculopalatocerebral Syndrome
Cleft palate, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism, Supernumerary nipple, Hypogonad... ORPHA:1173
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Septo-optic dysplasia, Anal atresia, Vaginal atresia, Cataract, Crypt... ORPHA:3301
Warburg Micro Syndrome 3
Optic atrophy, Narrow palate, Microcornea, Hypoplastic labia minora, Cataract, Decreased testicul... OMIM:614222
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Astigmatism, Hypospadias, Peters anomaly, Gastroesophageal reflux, Vesicoureteral ... ORPHA:494344
Knobloch Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ... ORPHA:1571
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Abnormal auditory evoked potentials, Attenuation of retinal... OMIM:619260
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Facial palsy, Splenomegaly, Optic disc pallor OMIM:611490
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme... ORPHA:585
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Abnormality of peripheral nerve conduction, P... ORPHA:280234
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Facial palsy, Cataract, Rod-cone dystrophy ORPHA:772
Alpha-Mannosidosis, Adult Form
Corneal opacity, Recurrent gastroenteritis, Hepatosplenomegaly, Cataract, Oligosacchariduria, Opt... ORPHA:309288
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Hypospadias OMIM:618688
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, L... ORPHA:2714
Warburg Micro Syndrome 4
Optic atrophy, Microcornea, Decreased testicular size, Developmental cataract, Small scrotum, Dec... OMIM:615663
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Corneal opacity, Protruding tong... ORPHA:93400
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Retinal detachment, Optic nerve hypoplasia, Coloboma, Abnormality iris morphology,... ORPHA:370959
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Gastroesophageal reflux ORPHA:141
3-Methylglutaconic Aciduria, Type V
Optic atrophy, 3-Methylglutaconic aciduria, Hypospadias, Decreased testicular size, 3-Methylgluta... OMIM:610198
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micr... OMIM:614225
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Abnormal optic disc morphology, Shawl scrotum, Cryptorchidism,... OMIM:617516
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Distal Deletion 13Q
Optic atrophy, Ambiguous genitalia, Anal atresia, Iris coloboma ORPHA:1590
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy ORPHA:1021
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Hydroureter, Abnormal autonomic nervous system physiology OMIM:598500
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal ... ORPHA:1215
Vici Syndrome
Optic atrophy, Renal tubular acidosis, High palate, Abnormality of retinal pigmentation, Ureteral... ORPHA:1493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Peters anomaly, Retinal detachment, Optic nerve hypoplasia, Col... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy, Neurogenic bladder OMIM:618248
Madras Motor Neuron Disease
Optic atrophy, Facial palsy, Dysphagia ORPHA:137867
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, 3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadi... OMIM:620089
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Decreased corneal thickness, Abnormal optic disc morpholog... ORPHA:293967
Cinca Syndrome
Papilledema, Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Small pituitary gland, Band keratopathy, Hypoplasia of the ir... OMIM:614195
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Coach Syndrome 1
Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Coloboma, Esophageal varix, Renal cyst... OMIM:216360
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract OMIM:616562
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Fetal Cytomegalovirus Syndrome
Optic atrophy, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Splenomegaly ORPHA:294
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Proteinuria, Abnormal retinal vascular morpho... ORPHA:2715
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly ORPHA:664
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Peripheral schwannoma, Facial palsy, Abnormal ... ORPHA:637
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Wolfram Syndrome 2
Optic atrophy, Neurogenic bladder, Optic neuropathy, Peptic ulcer OMIM:604928
Knobloch Syndrome 1
Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre... OMIM:267750
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Glomerular sclerosis, Retinal neovascularization, Retinal cotton woo... ORPHA:247691
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe... ORPHA:2538
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Nuclear cataract, Attenuation of retinal blood vessels... OMIM:610377
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Corneal dystrophy, Heterochromia iridis, Conjunctival telangie... ORPHA:3205
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Ureteral duplication, Multicystic kidney dyspla... ORPHA:564
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Splenomeg... ORPHA:64743
Systemic Sclerosis
Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gast... ORPHA:90291
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Leber Congenital Amaurosis 15
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Per... OMIM:613843
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Retinal atrophy, Photoreceptor layer loss on macular OCT... OMIM:616959
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Aplasia/Hyp... ORPHA:649
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibe... ORPHA:320406
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Bardet-Biedl Syndrome 20
Astigmatism, Bilateral cryptorchidism, Papilledema, Proteinuria, Rod-cone dystrophy, Male hypogon... OMIM:619471
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Cornelia De Lange Syndrome 1
Ectopic kidney, Malrotation of colon, Optic atrophy, Astigmatism, Hypospadias, Cleft palate, Redu... OMIM:122470
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Hypogonadism, Cataract, Pigmentary retinopathy OMIM:610651
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ... ORPHA:71505
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Gastrointestinal hemorrhage, Hepatomegaly, Retinal detachment, Esophageal varix, H... ORPHA:394
Chops Syndrome
Optic atrophy, High, narrow palate, Gastroesophageal reflux, Vesicoureteral reflux, Splenomegaly,... OMIM:616368
Cockayne Syndrome Type 3
Retinal atrophy, Splenomegaly, Peripheral axonal neuropathy, Retinal hemorrhage, Cataract, Abnorm... ORPHA:90324
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix, Splenomegaly OMIM:620367
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Optic disc pallor, Optic neuropathy, Gastroesophageal reflux OMIM:618249
Hardikar Syndrome
Hematemesis, Gastric varix, Hepatomegaly, Hydroureter, Cleft soft palate, Bilateral cleft palate,... OMIM:301068
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Hypospadias, Labial hypoplasia, Microcornea, Clitoral hypoplasia... OMIM:147791
Atelis Syndrome 2
Gastroesophageal reflux, High palate, Remnants of the hyaloid vascular system, Developmental cata... OMIM:620185
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Hematuria, Chronic kidney disease, Aplasia of the vagina, Aplasia of the uter... OMIM:146255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Developmental cataract, Posterior synechiae of the anterior cha... OMIM:613154
Osteopetrosis, Autosomal Recessive 9
Papilledema, Stage 3 chronic kidney disease, Hyperparathyroidism OMIM:620366
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Gastroesophageal reflux, Renal artery stenosis, High palate, Renal hypoplasia, Nep... OMIM:617913
Phace Association
Optic atrophy, Optic nerve hypoplasia, Developmental cataract, Increased retinal vascularity, Lin... OMIM:606519
Metachromatic Leukodystrophy
Abnormal stomach morphology, Decreased nerve conduction velocity, Urinary incontinence, Abnormal ... ORPHA:512
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Cutis Laxa, Autosomal Recessive, Type Iiib
Developmental glaucoma, Pyloric stenosis, Thin skin, Cataract, Cryptorchidism OMIM:614438
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anisocoria,... OMIM:231550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Cockayne Syndrome
Urinary incontinence, Retinal atrophy, Splenomegaly, Optic atrophy, Decreased nerve conduction ve... ORPHA:191
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Axillary pterygium, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Corneal erosion, Gastroesophageal reflux, Corneal opacity... ORPHA:1764
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Retinal detachment,... ORPHA:464311
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat... OMIM:308300
Joubert Syndrome 8
Hepatomegaly, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Astigmatism, Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, ... ORPHA:464306
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Hepatomegaly, Abnormal urinary color ORPHA:234
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid l... OMIM:260920
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic endocrine tumor, Retin... ORPHA:892
Knobloch Syndrome 2
Retinal detachment, Vitreoretinopathy, Vitreous floaters, Pyloric stenosis, Anterior cortical cat... OMIM:618458
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Myopic astigmatism, Hypoplasia of the fovea, Blue iri... OMIM:614077
Reynolds Syndrome
Hepatomegaly, Keratoconjunctivitis sicca, Gastroesophageal reflux, Abnormal gastric mucosa morpho... ORPHA:779
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal lens morphology, Abnormal optic disc morphology ORPHA:363417
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Decreased urinary urate, Elevated urinary guanosine level, Lymph ... OMIM:613179
Lymphangioleiomyomatosis
Optic atrophy, Retinal hamartoma, Gastrointestinal hemorrhage, Hematuria, Lymphadenopathy, Abnorm... ORPHA:538
Aicardi Syndrome
Optic atrophy, Intestinal polyposis, Gastroesophageal reflux, Retinal detachment, Precocious pube... ORPHA:50
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Retinal dystrophy, Ureterocele,... OMIM:614863
Xeroderma Pigmentosum
Optic atrophy, Pterygium, Conjunctival telangiectasia, Decreased testicular size, Thin skin, Kera... ORPHA:910
Hyperoxaluria, Primary, Type I
Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Hyperoxa... OMIM:259900
Dyskeratosis Congenita, X-Linked
Optic atrophy, Hypospadias, Pterygium, Phimosis, Decreased testicular size, Bone marrow hypocellu... OMIM:305000
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Anal atresia, Clitoral hypoplasi... OMIM:618419
Pagod Syndrome
Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uteru... ORPHA:991
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophageal fistula, Abnor... ORPHA:141127
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Coloboma,... ORPHA:1199
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Agammaglobulinemia, X-Linked
Prostatitis, Hepatocellular carcinoma, Lymph node hypoplasia, Epididymitis, Conjunctivitis OMIM:300755
Jacobsen Syndrome
Annular pancreas, Webbed neck, Duodenal atresia, Microcornea, Ectopic anus, Intestinal malrotatio... ORPHA:2308
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hepatomegaly, Hyperoxaluria, Renal cyst, Rod-cone dystrophy OMIM:601539
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Bifid uvul... OMIM:300166
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Cleft soft palate, Hypoplasia of the ovary, Optic nerve hypopla... OMIM:619321
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly ORPHA:379
Primary Hyperoxaluria
Optic atrophy, Hematuria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrolithiasis... ORPHA:416
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Retinal dystrophy, Renal insufficiency, Renal cortical cysts, Gastroesophageal reflu... ORPHA:397715
Arima Syndrome
Optic atrophy, Polyuria, Nephronophthisis, Hepatomegaly, Hematuria, Retinal dystrophy, Tubulointe... OMIM:243910
Neuroocular Syndrome
Short uvula, Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Ankyloglossia, ... OMIM:619539
Ramon Syndrome
Narrow palate, Enlarged labia minora, Axenfeld anomaly, Pigmentary retinopathy, Optic disc pallor OMIM:266270
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Hypoparathyroidism, Developmental cataract OMIM:127000
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Cleft palate, Submucous cleft so... OMIM:603671
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Pterygium, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture... ORPHA:79403
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular ... ORPHA:67036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal dysplasia, Coloboma, Retinal atrophy, Megalocornea, Hypoplasi... OMIM:253280
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Renal cyst, Retinopathy, Splenomegaly, Dysphagia OMIM:615636
Peters Plus Syndrome
Optic atrophy, Ureteral duplication, Hypospadias, Anterior hypopituitarism, Multicystic kidney dy... ORPHA:709
Turcot Syndrome With Polyposis
Intestinal polyposis, Melena, Adenomatous colonic polyposis, Hyperpigmentation of the fundus, Epi... ORPHA:99818
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Coloboma, Pelvic kidney, Facial palsy, Retinal coloboma, Abn... ORPHA:508498
Elsahy-Waters Syndrome
Anal stenosis, Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Megalocornea, Bilateral crypt... OMIM:211380
7Q11.23 Microduplication Syndrome
Astigmatism, Hypospadias, Unilateral renal agenesis, High palate, Enuresis, Abnormal optic disc m... ORPHA:96121
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, C... ORPHA:91500
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Retinal calcification, Decreased testicular size, Papilledema, Dev... ORPHA:93325
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Bilateral cleft palate, Remnants of the hyaloid vascular s... OMIM:157170
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Acute kidney injury, Aplasia/Hypoplasia of the pancreas, Hypospadias, Renal ... ORPHA:93111
Williams Syndrome
Hypoplasia of penis, Corneal opacity, Tracheoesophageal fistula, Nephrocalcinosis, Multiple renal... ORPHA:904
Leptospirosis
Acute kidney injury, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Macular cott... ORPHA:509
Microphthalmia, Syndromic 1
Rectal prolapse, Ciliary body coloboma, Aganglionic megacolon, Hypospadias, Hydroureter, Webbed n... OMIM:309800
Mowat-Wilson Syndrome
Aganglionic megacolon, Hypospadias, Microcornea, Bifid scrotum, Pyloric stenosis, Cleft palate, A... OMIM:235730
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Retinal detachment, Chronic gast... OMIM:619472
Branchiooculofacial Syndrome
Hypospadias, Gastroesophageal reflux, Facial palsy, Renal cyst, Retinal coloboma, Pyloric stenosi... OMIM:113620
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the... ORPHA:158684
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Bifid scrotum, Iris atrophy, Bifid uvula, Ectopia pupillae, Dysphagia, Dupl... ORPHA:261552
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700

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 Ppfibp2

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 Ppfibp2.

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

Title Journal IMPC Allele PubMed ID
Liprins in oncogenic signaling and cancer cell adhesion. Oncogene (October 2021) Ppfibp2tm1a(EUCOMM)Hmgu Ppfibp2em1(IMPC)Tcp 34654889

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ppfibp2em1(IMPC)Tcp Exon Deletion Mice, Tissue
Ppfibp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ppfibp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ppfibp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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