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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
abnormal stomach morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Ppfibp2em1(IMPC)Tcp HOM Early adult 0.00
decreased grip strength Ppfibp2em1(IMPC)Tcp HOM Middle aged adult 3.74×10-05
abnormal retina blood vessel morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.13×10-15
enlarged urinary bladder Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal retina vasculature morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.66×10-13
enlarged lymph nodes Ppfibp2em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Ppfibp2em1(IMPC)Tcp HOM Early adult 0.00
abnormal optic disk morphology Ppfibp2em1(IMPC)Tcp HOM Late adult 2.13×10-15
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
abnormal vocalization Ppfibp2em1(IMPC)Tcp HOM   Late adult 2.44×10-07
decreased grip strength Ppfibp2em1(IMPC)Tcp HOM Late adult 4.82×10-06
persistence of hyaloid vascular system Ppfibp2em1(IMPC)Tcp HOM Late adult 4.20×10-15

Download data as:  TSV  XLS

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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.

Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

96 Images

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Eye Morphology

Images Slit Lamp

163 Images

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Eye Morphology

Images Ophthalmoscopy

50 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 Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 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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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
Cataract, Optic atrophy ORPHA:2253
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Hem... ORPHA:1473
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
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
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Camos Syndrome
Nephrotic syndrome, Renal insufficiency, Optic atrophy ORPHA:83472
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy, Bifid uvula, Cleft palate OMIM:618768
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Combined Saposin Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:611721
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Sensory axonal neuropathy, Dysphagia, Cataract ORPHA:329314
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia OMIM:271930
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology, Cry... ORPHA:281090
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
Optic disc pallor, Cerulean cataract OMIM:616732
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Dysphagia ORPHA:1171
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy, Webbed neck ORPHA:3456
Mucolipidosis Iv
Corneal opacity, Achlorhydria, Optic atrophy, Opacification of the corneal stroma, Retinal degene... OMIM:252650
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Celiac disease, Astigmatism, Optic atrophy, Calcium oxalate nephrolithiasis OMIM:248000
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Gastroesophageal reflux, Abno... ORPHA:457205
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy, Dysphagia OMIM:617086
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
3-Methylglutaconic Aciduria, Type Iii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy OMIM:258501
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy, Dysphagia OMIM:620221
Wildervanck Syndrome
Pseudopapilledema, Webbed neck OMIM:314600
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia OMIM:164500
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Retinopathy, Neoplasm of the stomach ORPHA:618
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte... OMIM:249660
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Abnormality of macular pigmentation, Abno... ORPHA:97229
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, U... OMIM:609033
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia ORPHA:3173
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Diencephalic Syndrome
Long penis, Optic atrophy ORPHA:1672
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Aminoaciduria, Gastroesophageal reflux, R... OMIM:249270
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, Corneal ... ORPHA:912
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi... OMIM:609049
Triple A Syndrome
Optic atrophy, Anterior hypopituitarism, Achalasia, Iris coloboma, Motor axonal neuropathy ORPHA:869
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... ORPHA:899
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... ORPHA:496790
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy ORPHA:370924
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Optic atrophy, Facial palsy, Hepatomegaly OMIM:615085
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atr... ORPHA:324737
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Pigmentary retinopathy, Dysphagia, Test... OMIM:222300
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum, Optic atrophy OMIM:615597
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Hepatosplenomegaly, Dy... ORPHA:93399
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cleft palate OMIM:257910
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Trisomy 13
Cataract, Abnormal retinal vascular morphology, Cryptorchidism, High, narrow palate, Optic atroph... ORPHA:3378
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy OMIM:611490
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a... ORPHA:1173
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... OMIM:619260
Infantile Refsum Disease
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Rod-cone dystrophy ORPHA:772
Warburg Micro Syndrome 3
Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Narrow palate, Developmental ca... OMIM:614222
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Dysphagia, Astigmatism, Gastroesophageal reflux, Chor... ORPHA:494344
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria, Macroglossi... ORPHA:309288
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con... ORPHA:220460
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Pyloric stenosis, Abnormal vitreous humor morpholog... ORPHA:1571
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Hypospadias OMIM:618688
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko... ORPHA:2714
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Optic atroph... ORPHA:93400
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Gastroesophageal reflux ORPHA:141
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Developm... OMIM:615663
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Distal Deletion 13Q
Ambiguous genitalia, Optic atrophy, Iris coloboma, Anal atresia ORPHA:1590
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... OMIM:614225
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cleft palate, Retinal neovascularization OMIM:619074
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ureteral atresia, Renal tubular aci... ORPHA:1493
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, S... OMIM:617516
Mitochondrial Complex I Deficiency, Nuclear Type 27
Neurogenic bladder, Optic atrophy OMIM:618248
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Madras Motor Neuron Disease
Optic atrophy, Facial palsy, Dysphagia ORPHA:137867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Cryptorch... OMIM:236670
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Optic atrophy, Opto-chiasmatic atrophy, Elevated urine acetoacetic acid level, 3-Methyl... OMIM:620089
Cinca Syndrome
Papilledema, Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Coach Syndrome 1
Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullar... OMIM:216360
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Proteinuria, Abnormal retinal... ORPHA:2715
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Pyloric stenosis ORPHA:664
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal optic disc morphology, Bifid uvula, Decre... ORPHA:293967
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Proteinuria, Abnormal retinal vascular mor... ORPHA:247691
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Mevalonic Aciduria
Optic disc pallor, Cataract, Fluctuating splenomegaly, Fluctuating hepatomegaly, Lymphadenopathy,... OMIM:610377
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Esophageal varix, Gastric varix, Hepato... ORPHA:64743
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Intestinal malrotation, Hiatus hernia, Abnormality of... ORPHA:2538
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Band keratopathy, Pyloric stenosis, Chorioretinal atrophy,... OMIM:267750
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Abnormal choriore... ORPHA:564
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Wolfram Syndrome 2
Neurogenic bladder, Gastric ulcer, Optic atrophy, Optic neuropathy OMIM:604928
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Bilateral cryptorchidism, Astigmatism, Retinal vascular tortuosity, Mal... OMIM:619471
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal pigment epithelia... ORPHA:71505
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, H... ORPHA:394
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism OMIM:610651
Hardikar Syndrome
Hepatomegaly, Renal insufficiency, Hydroureter, Cleft soft palate, Intestinal malrotation, Hypers... OMIM:301068
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, Microcornea, High palate, Gastroesophageal reflu... OMIM:122470
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract, Vitreous hemorrhage, Gastroesoph... OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Cockayne Syndrome Type 3
Microcornea, Lentiglobus, Gastroesophageal reflux, Retinal degeneration, Hepatomegaly, Retinal at... ORPHA:90324
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic atrophy, Optic neuropathy, Gastroesophageal reflux OMIM:618249
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... OMIM:146255
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Papilledema, Hyperparathyroidism OMIM:620366
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Gastroe... OMIM:617913
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Pyloric stenosis, Optic atrophy, Microcornea, Clitoral hypoplasia, M... OMIM:147791
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Chops Syndrome
Cataract, Splenomegaly, High, narrow palate, Cryptorchidism, Optic atrophy, Horseshoe kidney, Gas... OMIM:616368
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... OMIM:231550
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal ... ORPHA:512
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Aicardi Syndrome
Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Pre... ORPHA:50
Familial Dysautonomia
Orthostatic hypotension, Renal insufficiency, Corneal opacity, Abnormal pupil morphology, Corneal... ORPHA:1764
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Supernumerary nipple, Retinal vascular pro... OMIM:308300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Hepatomegaly OMIM:612291
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Axillary pterygium, Congenital pyloric atresia OMIM:226730
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Gastroesophageal reflux, Reti... ORPHA:191
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Pyloric stenosis, Cryptorchidism, Developmental glaucoma, Thin skin OMIM:614438
Knobloch Syndrome 2
Retinal detachment, Anterior cortical cataract, Vitreous floaters, Pyloric stenosis, Vitreoretino... OMIM:618458
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Corneal opacity, Hypospadias, Unilateral renal agenesis, C... ORPHA:464311
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated uri... ORPHA:892
Hyper-Igd Syndrome
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiom... OMIM:260920
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Hy... OMIM:603671
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormal urinary color, Hepatomegaly ORPHA:234
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Xerostomia, Keratoconjunctivitis sicca, Gastroe... ORPHA:779
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... OMIM:614077
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Chronic Granulomatous Disease
Hepatomegaly, Malabsorption, Splenomegaly, Mediastinal lymphadenopathy, Pyloric stenosis, Tracheo... ORPHA:379
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Corneal opacity, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal ... ORPHA:464306
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst... OMIM:259900
Wolfram Syndrome
Gastrointestinal hemorrhage, Dysuria, Malabsorption, Nephropathy, Optic atrophy, Gastric ulcer, H... ORPHA:3463
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Ureterocele,... OMIM:614863
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Retinal hamartoma, Abnormality of the lympha... ORPHA:538
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo... OMIM:618419
Congenital Tracheal Stenosis
Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno... ORPHA:141127
Agammaglobulinemia, X-Linked
Epididymitis, Lymph node hypoplasia, Conjunctivitis, Hepatocellular carcinoma, Prostatitis OMIM:300755
Esophageal Atresia
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... ORPHA:1199
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... ORPHA:587
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of... ORPHA:991
Primary Hyperoxaluria
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... ORPHA:416
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Optic atrophy, Renal cyst, Rod-cone dystrophy OMIM:601539
Dyskeratosis Congenita, X-Linked
Cataract, Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Optic a... OMIM:305000
Arima Syndrome
Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Esophageal varix, Stage 5 ... OMIM:243910
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Optic atrop... OMIM:619321
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Retinal dystrophy, Hypospadias, Supernumerary nipple, Subretinal deposits, R... ORPHA:397715
Ramon Syndrome
Optic disc pallor, Enlarged labia minora, Narrow palate, Pigmentary retinopathy, Axenfeld anomaly OMIM:266270
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Sho... OMIM:619539
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
Turcot Syndrome With Polyposis
Intestinal polyposis, Papilledema, Hyperpigmentation of the fundus, Epiretinal membrane, Pituitar... ORPHA:99818
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Hypoparathyroidism, Developmental cataract OMIM:127000
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Joubert Syndrome 21
Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Dysphagia, Retinopathy OMIM:615636
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... ORPHA:79403
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Facial palsy, Renal hypoplasia, Horseshoe kidney, Coloboma, ... ORPHA:508498
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal ... ORPHA:91500
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Abnormal optic disc morphology,... ORPHA:96121
Peters Plus Syndrome
Intestinal fistula, Ureteral duplication, Cataract, Corneal opacity, Hypospadias, Multicystic kid... ORPHA:709
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal... OMIM:157170
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Developmental cataract, Retinal calcification, Congenital hypoparathyroidism, Decrea... ORPHA:93325
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High palate, Microp... ORPHA:284339
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Pyloric sten... ORPHA:93111
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Ve... ORPHA:904
Leptospirosis
Papilledema, Hepatomegaly, Cellular urinary casts, Retinal hemorrhage, Lymphadenopathy, Chorioret... ORPHA:509
Microphthalmia, Syndromic 1
Hydroureter, Aganglionic megacolon, Hypospadias, Cryptorchidism, High, narrow palate, Optic disc ... OMIM:309800
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Aganglionic megacolon, Hypospadias, Supernumerary nipple, Cryptorchidism... OMIM:235730
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Branchiooculofacial Syndrome
Cataract, Hypospadias, Facial palsy, Supernumerary nipple, Malrotation of colon, Cryptorchidism, ... OMIM:113620
Viss Syndrome
Retinal detachment, Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Sub... OMIM:619472
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron... ORPHA:158684
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy 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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